Supplementary 2 Article 10-127-11

| Post date: 2025/12/29 |

Supplementary 2. Putative pathogenic variants in the PAH gene listed in the Iranome genomic database

PAH missense variants	Number of heterozygotes	CADD Score	SIFT	Polyphen2	MutationTaster	MutationAssessor	FATHMM	FATHMM MKL	N/6 Damaging Prediction	Population with the most Frequency of Allele	Population with the Least Frequency of Allele
c.1169A>G	1	23.4	Damaging	Possibly damaging	Damaging	Predicted functional (Medium)	Damaging	Damaging	6	Persian (0.005)	Turkmen (0)
c.1157A>G	1	25.1	Damaging	Probably damaging	Damaging	Predicted functional (High)	Damaging	Damaging	6	Persian (0.005)	Turkmen (0)
c.1139C>T	5	26.3	Damaging	Probably damaging	Damaging	Predicted functional (High)	Damaging	Damaging	6	Azeri (0.015)	Turkmen (0)
c.1066T>C	1	9.756	Tolerated	Possibly damaging	Damaging	Predicted non-functional (Low)	Damaging	Damaging	4	Kurd (0.005)	Turkmen (0)
c.898G>T	4	34	Damaging	Probably damaging	Damaging	Predicted functional (Medium)	Damaging	Damaging	6	Azeri (0.005)	Persian Gulf Islander (0)
c.820A>G	2	18.93	Tolerated	Benign	Damaging	Predicted non-functional (Neutral)	Damaging	Damaging	3	Persian (0.005)	Turkmen (0)
c.728G>A	1	35	Damaging	Probably damaging	Damaging	Predicted functional (Medium)	Damaging	Damaging	6	Arab (0.005)	Turkmen (0)
c.688G>A	13	22.7	Tolerated	Benign	Damaging	Predicted non-functional (Neutral)	Damaging	Damaging	3	Kurd (0.03)	Turkmen (0)
c.533A>G	1	24	Damaging	Possibly damaging	Damaging	Predicted functional (Medium)	Damaging	Damaging	6	Turkmen (0.005)	Persian Gulf Islander (0)
c.506G>A	1	25.9	Damaging	Benign	Damaging	Predicted functional (Medium)	Damaging	Damaging	5	Arab (0.005)	Turkmen (0)
c.281T>G	1	21.9	Damaging	Benign	Damaging	Predicted functional (Medium)	Damaging	Damaging	5	Arab (0.005)	Turkmen (0)
c.280A>G	1	7.262	Tolerated	Benign	Damaging	Predicted non-functional (Neutral)	Damaging	Damaging	3	Turkmen (0.005)	Persian Gulf Islander (0)
c.169G>A	3	22.8	Tolerated	Benign	Damaging	Predicted non-functional (Low)	Damaging	Damaging	3	Lur (0.01)	Turkmen (0)
c.165T>G	3	24.5	Damaging	Probably damaging	Damaging	Predicted functional (Medium)	Damaging	Damaging	6	Persian (0.015)	Turkmen (0)
c.143T>C	1	27.8	Damaging	Probably damaging	Damaging	Predicted functional (High)	Damaging	Damaging	6	Persian (0.005)	Turkmen (0)
c.86G>A	1	8.002	Damaging	Benign	Tolerated	Predicted non-functional (Neutral)	Damaging	Tolerated	2	Lur (0.005)	Turkmen (0)
c.25A>G	1	14.07	Damaging	Benign	Tolerated	Predicted non-functional (Neutral)	Damaging	Damaging	3	Baloch (0.005)	Turkmen (0)
c.34G>T	1	21.3	Damaging	Benign	Tolerated	Predicted non-functional (Neutral)	Damaging	Tolerated	2	Lur (0.005)	Turkmen (0)
c.51G>T	1	13.91	Damaging	Benign	Tolerated	Predicted non-functional (Neutral)	Damaging	Damaging	3	Arab (0.005)	Turkmen (0)
c.121G>T	5	13.92	Damaging	Benign	Tolerated	Predicted non-functional (Neutral)	Tolerated	Damaging	2	Baloch (0.01099)	Persian Gulf Islander (0)

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