Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.153636375T>ACA358506149TMEM131Lc.4632T>A (p.Asp1544Glu)
c.3963T>A (p.Asp1321Glu)
c.4629T>A (p.Asp1543Glu)
c.2754T>A (p.Asp918Glu)
c.4719T>A (p.Asp1573Glu)
c.4716T>A (p.Asp1572Glu)
c.4689T>A (p.Asp1563Glu)
c.4467T>A (p.Asp1489Glu)
c.4626T>A (p.Asp1542Glu)
c.4686T>A (p.Asp1562Glu)
 gnomAD v4
4g.153636375T>CCA441799807TMEM131Lc.4632T>C (p.Asp1544=)
c.3963T>C (p.Asp1321=)
c.4629T>C (p.Asp1543=)
c.2754T>C (p.Asp918=)
c.4719T>C (p.Asp1573=)
c.4716T>C (p.Asp1572=)
c.4689T>C (p.Asp1563=)
c.4467T>C (p.Asp1489=)
c.4626T>C (p.Asp1542=)
c.4686T>C (p.Asp1562=)
 dbSNP gnomAD v4
4g.153636375T>GCA358506151TMEM131Lc.4632T>G (p.Asp1544Glu)
c.3963T>G (p.Asp1321Glu)
c.4629T>G (p.Asp1543Glu)
c.2754T>G (p.Asp918Glu)
c.4719T>G (p.Asp1573Glu)
c.4716T>G (p.Asp1572Glu)
c.4689T>G (p.Asp1563Glu)
c.4467T>G (p.Asp1489Glu)
c.4626T>G (p.Asp1542Glu)
c.4686T>G (p.Asp1562Glu)
4g.153636376G>ACA358506157TMEM131Lc.4633G>A (p.Val1545Met)
c.3964G>A (p.Val1322Met)
c.4630G>A (p.Val1544Met)
c.2755G>A (p.Val919Met)
c.4720G>A (p.Val1574Met)
c.4717G>A (p.Val1573Met)
c.4690G>A (p.Val1564Met)
c.4468G>A (p.Val1490Met)
c.4627G>A (p.Val1543Met)
c.4687G>A (p.Val1563Met)
4g.153636376G>CCA358506155TMEM131Lc.4633G>C (p.Val1545Leu)
c.3964G>C (p.Val1322Leu)
c.4630G>C (p.Val1544Leu)
c.2755G>C (p.Val919Leu)
c.4720G>C (p.Val1574Leu)
c.4717G>C (p.Val1573Leu)
c.4690G>C (p.Val1564Leu)
c.4468G>C (p.Val1490Leu)
c.4627G>C (p.Val1543Leu)
c.4687G>C (p.Val1563Leu)
 dbSNP gnomAD v2
4g.153636376G=CA1504512158TMEM131Lc.4633G= (p.Val1545=)
c.3964G= (p.Val1322=)
c.4630G= (p.Val1544=)
c.2755G= (p.Val919=)
c.4720G= (p.Val1574=)
c.4717G= (p.Val1573=)
c.4690G= (p.Val1564=)
c.4468G= (p.Val1490=)
c.4627G= (p.Val1543=)
c.4687G= (p.Val1563=)
4g.153636376G>TCA358506153TMEM131Lc.4633G>T (p.Val1545Leu)
c.3964G>T (p.Val1322Leu)
c.4630G>T (p.Val1544Leu)
c.2755G>T (p.Val919Leu)
c.4720G>T (p.Val1574Leu)
c.4717G>T (p.Val1573Leu)
c.4690G>T (p.Val1564Leu)
c.4468G>T (p.Val1490Leu)
c.4627G>T (p.Val1543Leu)
c.4687G>T (p.Val1563Leu)
4g.153636377T>ACA358506159TMEM131Lc.4634T>A (p.Val1545Glu)
c.3965T>A (p.Val1322Glu)
c.4631T>A (p.Val1544Glu)
c.2756T>A (p.Val919Glu)
c.4721T>A (p.Val1574Glu)
c.4718T>A (p.Val1573Glu)
c.4691T>A (p.Val1564Glu)
c.4469T>A (p.Val1490Glu)
c.4628T>A (p.Val1543Glu)
c.4688T>A (p.Val1563Glu)
4g.153636377T>CCA358506160TMEM131Lc.4634T>C (p.Val1545Ala)
c.3965T>C (p.Val1322Ala)
c.4631T>C (p.Val1544Ala)
c.2756T>C (p.Val919Ala)
c.4721T>C (p.Val1574Ala)
c.4718T>C (p.Val1573Ala)
c.4691T>C (p.Val1564Ala)
c.4469T>C (p.Val1490Ala)
c.4628T>C (p.Val1543Ala)
c.4688T>C (p.Val1563Ala)
4g.153636377T>GCA358506162TMEM131Lc.4634T>G (p.Val1545Gly)
c.3965T>G (p.Val1322Gly)
c.4631T>G (p.Val1544Gly)
c.2756T>G (p.Val919Gly)
c.4721T>G (p.Val1574Gly)
c.4718T>G (p.Val1573Gly)
c.4691T>G (p.Val1564Gly)
c.4469T>G (p.Val1490Gly)
c.4628T>G (p.Val1543Gly)
c.4688T>G (p.Val1563Gly)
4g.153636378G>ACA441799810TMEM131Lc.4635G>A (p.Val1545=)
c.3966G>A (p.Val1322=)
c.4632G>A (p.Val1544=)
c.2757G>A (p.Val919=)
c.4722G>A (p.Val1574=)
c.4719G>A (p.Val1573=)
c.4692G>A (p.Val1564=)
c.4470G>A (p.Val1490=)
c.4629G>A (p.Val1543=)
c.4689G>A (p.Val1563=)
 dbSNP gnomAD v4
4g.153636378G>CCA441799809TMEM131Lc.4635G>C (p.Val1545=)
c.3966G>C (p.Val1322=)
c.4632G>C (p.Val1544=)
c.2757G>C (p.Val919=)
c.4722G>C (p.Val1574=)
c.4719G>C (p.Val1573=)
c.4692G>C (p.Val1564=)
c.4470G>C (p.Val1490=)
c.4629G>C (p.Val1543=)
c.4689G>C (p.Val1563=)
4g.153636378G=CA1504512159TMEM131Lc.4635G= (p.Val1545=)
c.3966G= (p.Val1322=)
c.4632G= (p.Val1544=)
c.2757G= (p.Val919=)
c.4722G= (p.Val1574=)
c.4719G= (p.Val1573=)
c.4692G= (p.Val1564=)
c.4470G= (p.Val1490=)
c.4629G= (p.Val1543=)
c.4689G= (p.Val1563=)
4g.153636378G>TCA441799808TMEM131Lc.4635G>T (p.Val1545=)
c.3966G>T (p.Val1322=)
c.4632G>T (p.Val1544=)
c.2757G>T (p.Val919=)
c.4722G>T (p.Val1574=)
c.4719G>T (p.Val1573=)
c.4692G>T (p.Val1564=)
c.4470G>T (p.Val1490=)
c.4629G>T (p.Val1543=)
c.4689G>T (p.Val1563=)
 COSMIC COSMIC
4g.153636379T>ACA358506164TMEM131Lc.4636T>A (p.Tyr1546Asn)
c.3967T>A (p.Tyr1323Asn)
c.4633T>A (p.Tyr1545Asn)
c.2758T>A (p.Tyr920Asn)
c.4723T>A (p.Tyr1575Asn)
c.4720T>A (p.Tyr1574Asn)
c.4693T>A (p.Tyr1565Asn)
c.4471T>A (p.Tyr1491Asn)
c.4630T>A (p.Tyr1544Asn)
c.4690T>A (p.Tyr1564Asn)
4g.153636379T>CCA358506166TMEM131Lc.4636T>C (p.Tyr1546His)
c.3967T>C (p.Tyr1323His)
c.4633T>C (p.Tyr1545His)
c.2758T>C (p.Tyr920His)
c.4723T>C (p.Tyr1575His)
c.4720T>C (p.Tyr1574His)
c.4693T>C (p.Tyr1565His)
c.4471T>C (p.Tyr1491His)
c.4630T>C (p.Tyr1544His)
c.4690T>C (p.Tyr1564His)
 dbSNP
4g.153636379T>GCA358506167TMEM131Lc.4636T>G (p.Tyr1546Asp)
c.3967T>G (p.Tyr1323Asp)
c.4633T>G (p.Tyr1545Asp)
c.2758T>G (p.Tyr920Asp)
c.4723T>G (p.Tyr1575Asp)
c.4720T>G (p.Tyr1574Asp)
c.4693T>G (p.Tyr1565Asp)
c.4471T>G (p.Tyr1491Asp)
c.4630T>G (p.Tyr1544Asp)
c.4690T>G (p.Tyr1564Asp)
4g.153636379T=CA1504512160TMEM131Lc.4636T= (p.Tyr1546=)
c.3967T= (p.Tyr1323=)
c.4633T= (p.Tyr1545=)
c.2758T= (p.Tyr920=)
c.4723T= (p.Tyr1575=)
c.4720T= (p.Tyr1574=)
c.4693T= (p.Tyr1565=)
c.4471T= (p.Tyr1491=)
c.4630T= (p.Tyr1544=)
c.4690T= (p.Tyr1564=)
4g.153636380A=CA1504512161TMEM131Lc.4637A= (p.Tyr1546=)
c.3968A= (p.Tyr1323=)
c.4634A= (p.Tyr1545=)
c.2759A= (p.Tyr920=)
c.4724A= (p.Tyr1575=)
c.4721A= (p.Tyr1574=)
c.4694A= (p.Tyr1565=)
c.4472A= (p.Tyr1491=)
c.4631A= (p.Tyr1544=)
c.4691A= (p.Tyr1564=)
4g.153636380A>CCA107951346TMEM131Lc.4637A>C (p.Tyr1546Ser)
c.3968A>C (p.Tyr1323Ser)
c.4634A>C (p.Tyr1545Ser)
c.2759A>C (p.Tyr920Ser)
c.4724A>C (p.Tyr1575Ser)
c.4721A>C (p.Tyr1574Ser)
c.4694A>C (p.Tyr1565Ser)
c.4472A>C (p.Tyr1491Ser)
c.4631A>C (p.Tyr1544Ser)
c.4691A>C (p.Tyr1564Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.153636380A>GCA358506169TMEM131Lc.4637A>G (p.Tyr1546Cys)
c.3968A>G (p.Tyr1323Cys)
c.4634A>G (p.Tyr1545Cys)
c.2759A>G (p.Tyr920Cys)
c.4724A>G (p.Tyr1575Cys)
c.4721A>G (p.Tyr1574Cys)
c.4694A>G (p.Tyr1565Cys)
c.4472A>G (p.Tyr1491Cys)
c.4631A>G (p.Tyr1544Cys)
c.4691A>G (p.Tyr1564Cys)
 gnomAD v4
4g.153636380A>TCA358506171TMEM131Lc.4637A>T (p.Tyr1546Phe)
c.3968A>T (p.Tyr1323Phe)
c.4634A>T (p.Tyr1545Phe)
c.2759A>T (p.Tyr920Phe)
c.4724A>T (p.Tyr1575Phe)
c.4721A>T (p.Tyr1574Phe)
c.4694A>T (p.Tyr1565Phe)
c.4472A>T (p.Tyr1491Phe)
c.4631A>T (p.Tyr1544Phe)
c.4691A>T (p.Tyr1564Phe)
4g.153636381T>ACA358506173TMEM131Lc.4638T>A (p.Tyr1546Ter)
c.3969T>A (p.Tyr1323Ter)
c.4635T>A (p.Tyr1545Ter)
c.2760T>A (p.Tyr920Ter)
c.4725T>A (p.Tyr1575Ter)
c.4722T>A (p.Tyr1574Ter)
c.4695T>A (p.Tyr1565Ter)
c.4473T>A (p.Tyr1491Ter)
c.4632T>A (p.Tyr1544Ter)
c.4692T>A (p.Tyr1564Ter)
4g.153636381T>CCA441799811TMEM131Lc.4638T>C (p.Tyr1546=)
c.3969T>C (p.Tyr1323=)
c.4635T>C (p.Tyr1545=)
c.2760T>C (p.Tyr920=)
c.4725T>C (p.Tyr1575=)
c.4722T>C (p.Tyr1574=)
c.4695T>C (p.Tyr1565=)
c.4473T>C (p.Tyr1491=)
c.4632T>C (p.Tyr1544=)
c.4692T>C (p.Tyr1564=)
4g.153636381T>GCA358506175TMEM131Lc.4638T>G (p.Tyr1546Ter)
c.3969T>G (p.Tyr1323Ter)
c.4635T>G (p.Tyr1545Ter)
c.2760T>G (p.Tyr920Ter)
c.4725T>G (p.Tyr1575Ter)
c.4722T>G (p.Tyr1574Ter)
c.4695T>G (p.Tyr1565Ter)
c.4473T>G (p.Tyr1491Ter)
c.4632T>G (p.Tyr1544Ter)
c.4692T>G (p.Tyr1564Ter)
4g.153636382G>ACA358506176TMEM131Lc.4639G>A (p.Glu1547Lys)
c.3970G>A (p.Glu1324Lys)
c.4636G>A (p.Glu1546Lys)
c.2761G>A (p.Glu921Lys)
c.4726G>A (p.Glu1576Lys)
c.4723G>A (p.Glu1575Lys)
c.4696G>A (p.Glu1566Lys)
c.4474G>A (p.Glu1492Lys)
c.4633G>A (p.Glu1545Lys)
c.4693G>A (p.Glu1565Lys)
4g.153636382G>CCA358506178TMEM131Lc.4639G>C (p.Glu1547Gln)
c.3970G>C (p.Glu1324Gln)
c.4636G>C (p.Glu1546Gln)
c.2761G>C (p.Glu921Gln)
c.4726G>C (p.Glu1576Gln)
c.4723G>C (p.Glu1575Gln)
c.4696G>C (p.Glu1566Gln)
c.4474G>C (p.Glu1492Gln)
c.4633G>C (p.Glu1545Gln)
c.4693G>C (p.Glu1565Gln)
4g.153636382G>TCA358506180TMEM131Lc.4639G>T (p.Glu1547Ter)
c.3970G>T (p.Glu1324Ter)
c.4636G>T (p.Glu1546Ter)
c.2761G>T (p.Glu921Ter)
c.4726G>T (p.Glu1576Ter)
c.4723G>T (p.Glu1575Ter)
c.4696G>T (p.Glu1566Ter)
c.4474G>T (p.Glu1492Ter)
c.4633G>T (p.Glu1545Ter)
c.4693G>T (p.Glu1565Ter)
4g.153636383A>CCA358506182TMEM131Lc.4640A>C (p.Glu1547Ala)
c.3971A>C (p.Glu1324Ala)
c.4637A>C (p.Glu1546Ala)
c.2762A>C (p.Glu921Ala)
c.4727A>C (p.Glu1576Ala)
c.4724A>C (p.Glu1575Ala)
c.4697A>C (p.Glu1566Ala)
c.4475A>C (p.Glu1492Ala)
c.4634A>C (p.Glu1545Ala)
c.4694A>C (p.Glu1565Ala)
4g.153636383A>GCA358506186TMEM131Lc.4640A>G (p.Glu1547Gly)
c.3971A>G (p.Glu1324Gly)
c.4637A>G (p.Glu1546Gly)
c.2762A>G (p.Glu921Gly)
c.4727A>G (p.Glu1576Gly)
c.4724A>G (p.Glu1575Gly)
c.4697A>G (p.Glu1566Gly)
c.4475A>G (p.Glu1492Gly)
c.4634A>G (p.Glu1545Gly)
c.4694A>G (p.Glu1565Gly)
4g.153636383A>TCA358506184TMEM131Lc.4640A>T (p.Glu1547Val)
c.3971A>T (p.Glu1324Val)
c.4637A>T (p.Glu1546Val)
c.2762A>T (p.Glu921Val)
c.4727A>T (p.Glu1576Val)
c.4724A>T (p.Glu1575Val)
c.4697A>T (p.Glu1566Val)
c.4475A>T (p.Glu1492Val)
c.4634A>T (p.Glu1545Val)
c.4694A>T (p.Glu1565Val)
4g.153636384A=CA1504512162TMEM131Lc.4641A= (p.Glu1547=)
c.3972A= (p.Glu1324=)
c.4638A= (p.Glu1546=)
c.2763A= (p.Glu921=)
c.4728A= (p.Glu1576=)
c.4725A= (p.Glu1575=)
c.4698A= (p.Glu1566=)
c.4476A= (p.Glu1492=)
c.4635A= (p.Glu1545=)
c.4695A= (p.Glu1565=)
4g.153636384A>CCA358506189TMEM131Lc.4641A>C (p.Glu1547Asp)
c.3972A>C (p.Glu1324Asp)
c.4638A>C (p.Glu1546Asp)
c.2763A>C (p.Glu921Asp)
c.4728A>C (p.Glu1576Asp)
c.4725A>C (p.Glu1575Asp)
c.4698A>C (p.Glu1566Asp)
c.4476A>C (p.Glu1492Asp)
c.4635A>C (p.Glu1545Asp)
c.4695A>C (p.Glu1565Asp)
4g.153636384A>GCA441799812TMEM131Lc.4641A>G (p.Glu1547=)
c.3972A>G (p.Glu1324=)
c.4638A>G (p.Glu1546=)
c.2763A>G (p.Glu921=)
c.4728A>G (p.Glu1576=)
c.4725A>G (p.Glu1575=)
c.4698A>G (p.Glu1566=)
c.4476A>G (p.Glu1492=)
c.4635A>G (p.Glu1545=)
c.4695A>G (p.Glu1565=)
 dbSNP gnomAD v2 gnomAD v4
4g.153636384A>TCA358506191TMEM131Lc.4641A>T (p.Glu1547Asp)
c.3972A>T (p.Glu1324Asp)
c.4638A>T (p.Glu1546Asp)
c.2763A>T (p.Glu921Asp)
c.4728A>T (p.Glu1576Asp)
c.4725A>T (p.Glu1575Asp)
c.4698A>T (p.Glu1566Asp)
c.4476A>T (p.Glu1492Asp)
c.4635A>T (p.Glu1545Asp)
c.4695A>T (p.Glu1565Asp)
4g.153636385A=CA1504512163TMEM131Lc.4642A= (p.Asn1548=)
c.3973A= (p.Asn1325=)
c.4639A= (p.Asn1547=)
c.2764A= (p.Asn922=)
c.4729A= (p.Asn1577=)
c.4726A= (p.Asn1576=)
c.4699A= (p.Asn1567=)
c.4477A= (p.Asn1493=)
c.4636A= (p.Asn1546=)
c.4696A= (p.Asn1566=)
4g.153636385A>CCA3110586TMEM131Lc.4642A>C (p.Asn1548His)
c.3973A>C (p.Asn1325His)
c.4639A>C (p.Asn1547His)
c.2764A>C (p.Asn922His)
c.4729A>C (p.Asn1577His)
c.4726A>C (p.Asn1576His)
c.4699A>C (p.Asn1567His)
c.4477A>C (p.Asn1493His)
c.4636A>C (p.Asn1546His)
c.4696A>C (p.Asn1566His)
 dbSNP ExAC gnomAD v4
4g.153636385A>GCA358506194TMEM131Lc.4642A>G (p.Asn1548Asp)
c.3973A>G (p.Asn1325Asp)
c.4639A>G (p.Asn1547Asp)
c.2764A>G (p.Asn922Asp)
c.4729A>G (p.Asn1577Asp)
c.4726A>G (p.Asn1576Asp)
c.4699A>G (p.Asn1567Asp)
c.4477A>G (p.Asn1493Asp)
c.4636A>G (p.Asn1546Asp)
c.4696A>G (p.Asn1566Asp)
 dbSNP gnomAD v2 gnomAD v4
4g.153636385A>TCA358506195TMEM131Lc.4642A>T (p.Asn1548Tyr)
c.3973A>T (p.Asn1325Tyr)
c.4639A>T (p.Asn1547Tyr)
c.2764A>T (p.Asn922Tyr)
c.4729A>T (p.Asn1577Tyr)
c.4726A>T (p.Asn1576Tyr)
c.4699A>T (p.Asn1567Tyr)
c.4477A>T (p.Asn1493Tyr)
c.4636A>T (p.Asn1546Tyr)
c.4696A>T (p.Asn1566Tyr)
4g.153636386A=CA1504512164TMEM131Lc.4643A= (p.Asn1548=)
c.3974A= (p.Asn1325=)
c.4640A= (p.Asn1547=)
c.2765A= (p.Asn922=)
c.4730A= (p.Asn1577=)
c.4727A= (p.Asn1576=)
c.4700A= (p.Asn1567=)
c.4478A= (p.Asn1493=)
c.4637A= (p.Asn1546=)
c.4697A= (p.Asn1566=)
4g.153636386A>CCA358506198TMEM131Lc.4643A>C (p.Asn1548Thr)
c.3974A>C (p.Asn1325Thr)
c.4640A>C (p.Asn1547Thr)
c.2765A>C (p.Asn922Thr)
c.4730A>C (p.Asn1577Thr)
c.4727A>C (p.Asn1576Thr)
c.4700A>C (p.Asn1567Thr)
c.4478A>C (p.Asn1493Thr)
c.4637A>C (p.Asn1546Thr)
c.4697A>C (p.Asn1566Thr)
4g.153636386A>GCA358506200TMEM131Lc.4643A>G (p.Asn1548Ser)
c.3974A>G (p.Asn1325Ser)
c.4640A>G (p.Asn1547Ser)
c.2765A>G (p.Asn922Ser)
c.4730A>G (p.Asn1577Ser)
c.4727A>G (p.Asn1576Ser)
c.4700A>G (p.Asn1567Ser)
c.4478A>G (p.Asn1493Ser)
c.4637A>G (p.Asn1546Ser)
c.4697A>G (p.Asn1566Ser)
 dbSNP gnomAD v2 gnomAD v4
4g.153636386A>TCA358506201TMEM131Lc.4643A>T (p.Asn1548Ile)
c.3974A>T (p.Asn1325Ile)
c.4640A>T (p.Asn1547Ile)
c.2765A>T (p.Asn922Ile)
c.4730A>T (p.Asn1577Ile)
c.4727A>T (p.Asn1576Ile)
c.4700A>T (p.Asn1567Ile)
c.4478A>T (p.Asn1493Ile)
c.4637A>T (p.Asn1546Ile)
c.4697A>T (p.Asn1566Ile)
4g.153636387T>ACA358506204TMEM131Lc.4644T>A (p.Asn1548Lys)
c.3975T>A (p.Asn1325Lys)
c.4641T>A (p.Asn1547Lys)
c.2766T>A (p.Asn922Lys)
c.4731T>A (p.Asn1577Lys)
c.4728T>A (p.Asn1576Lys)
c.4701T>A (p.Asn1567Lys)
c.4479T>A (p.Asn1493Lys)
c.4638T>A (p.Asn1546Lys)
c.4698T>A (p.Asn1566Lys)
4g.153636387T>CCA3110587TMEM131Lc.4644T>C (p.Asn1548=)
c.3975T>C (p.Asn1325=)
c.4641T>C (p.Asn1547=)
c.2766T>C (p.Asn922=)
c.4731T>C (p.Asn1577=)
c.4728T>C (p.Asn1576=)
c.4701T>C (p.Asn1567=)
c.4479T>C (p.Asn1493=)
c.4638T>C (p.Asn1546=)
c.4698T>C (p.Asn1566=)
 dbSNP ExAC gnomAD v4
4g.153636387T>GCA358506207TMEM131Lc.4644T>G (p.Asn1548Lys)
c.3975T>G (p.Asn1325Lys)
c.4641T>G (p.Asn1547Lys)
c.2766T>G (p.Asn922Lys)
c.4731T>G (p.Asn1577Lys)
c.4728T>G (p.Asn1576Lys)
c.4701T>G (p.Asn1567Lys)
c.4479T>G (p.Asn1493Lys)
c.4638T>G (p.Asn1546Lys)
c.4698T>G (p.Asn1566Lys)
 dbSNP gnomAD v4
4g.153636387T=CA1504512165TMEM131Lc.4644T= (p.Asn1548=)
c.3975T= (p.Asn1325=)
c.4641T= (p.Asn1547=)
c.2766T= (p.Asn922=)
c.4731T= (p.Asn1577=)
c.4728T= (p.Asn1576=)
c.4701T= (p.Asn1567=)
c.4479T= (p.Asn1493=)
c.4638T= (p.Asn1546=)
c.4698T= (p.Asn1566=)
4g.153636388T>ACA358506209TMEM131Lc.4645T>A (p.Cys1549Ser)
c.3976T>A (p.Cys1326Ser)
c.4642T>A (p.Cys1548Ser)
c.2767T>A (p.Cys923Ser)
c.4732T>A (p.Cys1578Ser)
c.4729T>A (p.Cys1577Ser)
c.4702T>A (p.Cys1568Ser)
c.4480T>A (p.Cys1494Ser)
c.4639T>A (p.Cys1547Ser)
c.4699T>A (p.Cys1567Ser)
4g.153636388T>CCA358506211TMEM131Lc.4645T>C (p.Cys1549Arg)
c.3976T>C (p.Cys1326Arg)
c.4642T>C (p.Cys1548Arg)
c.2767T>C (p.Cys923Arg)
c.4732T>C (p.Cys1578Arg)
c.4729T>C (p.Cys1577Arg)
c.4702T>C (p.Cys1568Arg)
c.4480T>C (p.Cys1494Arg)
c.4639T>C (p.Cys1547Arg)
c.4699T>C (p.Cys1567Arg)
4g.153636388T>GCA358506210TMEM131Lc.4645T>G (p.Cys1549Gly)
c.3976T>G (p.Cys1326Gly)
c.4642T>G (p.Cys1548Gly)
c.2767T>G (p.Cys923Gly)
c.4732T>G (p.Cys1578Gly)
c.4729T>G (p.Cys1577Gly)
c.4702T>G (p.Cys1568Gly)
c.4480T>G (p.Cys1494Gly)
c.4639T>G (p.Cys1547Gly)
c.4699T>G (p.Cys1567Gly)
4g.153636389G>ACA358506214TMEM131Lc.4646G>A (p.Cys1549Tyr)
c.3977G>A (p.Cys1326Tyr)
c.4643G>A (p.Cys1548Tyr)
c.2768G>A (p.Cys923Tyr)
c.4733G>A (p.Cys1578Tyr)
c.4730G>A (p.Cys1577Tyr)
c.4703G>A (p.Cys1568Tyr)
c.4481G>A (p.Cys1494Tyr)
c.4640G>A (p.Cys1547Tyr)
c.4700G>A (p.Cys1567Tyr)
4g.153636389G>CCA358506218TMEM131Lc.4646G>C (p.Cys1549Ser)
c.3977G>C (p.Cys1326Ser)
c.4643G>C (p.Cys1548Ser)
c.2768G>C (p.Cys923Ser)
c.4733G>C (p.Cys1578Ser)
c.4730G>C (p.Cys1577Ser)
c.4703G>C (p.Cys1568Ser)
c.4481G>C (p.Cys1494Ser)
c.4640G>C (p.Cys1547Ser)
c.4700G>C (p.Cys1567Ser)
 gnomAD v4
4g.153636389G>TCA358506216TMEM131Lc.4646G>T (p.Cys1549Phe)
c.3977G>T (p.Cys1326Phe)
c.4643G>T (p.Cys1548Phe)
c.2768G>T (p.Cys923Phe)
c.4733G>T (p.Cys1578Phe)
c.4730G>T (p.Cys1577Phe)
c.4703G>T (p.Cys1568Phe)
c.4481G>T (p.Cys1494Phe)
c.4640G>T (p.Cys1547Phe)
c.4700G>T (p.Cys1567Phe)
4g.153636390C>ACA358506221TMEM131Lc.4647C>A (p.Cys1549Ter)
c.3978C>A (p.Cys1326Ter)
c.4644C>A (p.Cys1548Ter)
c.2769C>A (p.Cys923Ter)
c.4734C>A (p.Cys1578Ter)
c.4731C>A (p.Cys1577Ter)
c.4704C>A (p.Cys1568Ter)
c.4482C>A (p.Cys1494Ter)
c.4641C>A (p.Cys1547Ter)
c.4701C>A (p.Cys1567Ter)
4g.153636390C=CA1504512166TMEM131Lc.4647C= (p.Cys1549=)
c.3978C= (p.Cys1326=)
c.4644C= (p.Cys1548=)
c.2769C= (p.Cys923=)
c.4734C= (p.Cys1578=)
c.4731C= (p.Cys1577=)
c.4704C= (p.Cys1568=)
c.4482C= (p.Cys1494=)
c.4641C= (p.Cys1547=)
c.4701C= (p.Cys1567=)
4g.153636390C>GCA358506222TMEM131Lc.4647C>G (p.Cys1549Trp)
c.3978C>G (p.Cys1326Trp)
c.4644C>G (p.Cys1548Trp)
c.2769C>G (p.Cys923Trp)
c.4734C>G (p.Cys1578Trp)
c.4731C>G (p.Cys1577Trp)
c.4704C>G (p.Cys1568Trp)
c.4482C>G (p.Cys1494Trp)
c.4641C>G (p.Cys1547Trp)
c.4701C>G (p.Cys1567Trp)
 dbSNP gnomAD v3 gnomAD v4
4g.153636390C>TCA3110588TMEM131Lc.4647C>T (p.Cys1549=)
c.3978C>T (p.Cys1326=)
c.4644C>T (p.Cys1548=)
c.2769C>T (p.Cys923=)
c.4734C>T (p.Cys1578=)
c.4731C>T (p.Cys1577=)
c.4704C>T (p.Cys1568=)
c.4482C>T (p.Cys1494=)
c.4641C>T (p.Cys1547=)
c.4701C>T (p.Cys1567=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636391T>ACA358506226TMEM131Lc.4648T>A (p.Cys1550Ser)
c.3979T>A (p.Cys1327Ser)
c.4645T>A (p.Cys1549Ser)
c.2770T>A (p.Cys924Ser)
c.4735T>A (p.Cys1579Ser)
c.4732T>A (p.Cys1578Ser)
c.4705T>A (p.Cys1569Ser)
c.4483T>A (p.Cys1495Ser)
c.4642T>A (p.Cys1548Ser)
c.4702T>A (p.Cys1568Ser)
4g.153636391T>CCA358506227TMEM131Lc.4648T>C (p.Cys1550Arg)
c.3979T>C (p.Cys1327Arg)
c.4645T>C (p.Cys1549Arg)
c.2770T>C (p.Cys924Arg)
c.4735T>C (p.Cys1579Arg)
c.4732T>C (p.Cys1578Arg)
c.4705T>C (p.Cys1569Arg)
c.4483T>C (p.Cys1495Arg)
c.4642T>C (p.Cys1548Arg)
c.4702T>C (p.Cys1568Arg)
 gnomAD v4
4g.153636391T>GCA358506228TMEM131Lc.4648T>G (p.Cys1550Gly)
c.3979T>G (p.Cys1327Gly)
c.4645T>G (p.Cys1549Gly)
c.2770T>G (p.Cys924Gly)
c.4735T>G (p.Cys1579Gly)
c.4732T>G (p.Cys1578Gly)
c.4705T>G (p.Cys1569Gly)
c.4483T>G (p.Cys1495Gly)
c.4642T>G (p.Cys1548Gly)
c.4702T>G (p.Cys1568Gly)
4g.153636392G>ACA358506230TMEM131Lc.4649G>A (p.Cys1550Tyr)
c.3980G>A (p.Cys1327Tyr)
c.4646G>A (p.Cys1549Tyr)
c.2771G>A (p.Cys924Tyr)
c.4736G>A (p.Cys1579Tyr)
c.4733G>A (p.Cys1578Tyr)
c.4706G>A (p.Cys1569Tyr)
c.4484G>A (p.Cys1495Tyr)
c.4643G>A (p.Cys1548Tyr)
c.4703G>A (p.Cys1568Tyr)
 dbSNP gnomAD v3 gnomAD v4
4g.153636392G>CCA358506231TMEM131Lc.4649G>C (p.Cys1550Ser)
c.3980G>C (p.Cys1327Ser)
c.4646G>C (p.Cys1549Ser)
c.2771G>C (p.Cys924Ser)
c.4736G>C (p.Cys1579Ser)
c.4733G>C (p.Cys1578Ser)
c.4706G>C (p.Cys1569Ser)
c.4484G>C (p.Cys1495Ser)
c.4643G>C (p.Cys1548Ser)
c.4703G>C (p.Cys1568Ser)
4g.153636392G=CA1504512167TMEM131Lc.4649G= (p.Cys1550=)
c.3980G= (p.Cys1327=)
c.4646G= (p.Cys1549=)
c.2771G= (p.Cys924=)
c.4736G= (p.Cys1579=)
c.4733G= (p.Cys1578=)
c.4706G= (p.Cys1569=)
c.4484G= (p.Cys1495=)
c.4643G= (p.Cys1548=)
c.4703G= (p.Cys1568=)
4g.153636392G>TCA358506232TMEM131Lc.4649G>T (p.Cys1550Phe)
c.3980G>T (p.Cys1327Phe)
c.4646G>T (p.Cys1549Phe)
c.2771G>T (p.Cys924Phe)
c.4736G>T (p.Cys1579Phe)
c.4733G>T (p.Cys1578Phe)
c.4706G>T (p.Cys1569Phe)
c.4484G>T (p.Cys1495Phe)
c.4643G>T (p.Cys1548Phe)
c.4703G>T (p.Cys1568Phe)
4g.153636393C>ACA358506235TMEM131Lc.4650C>A (p.Cys1550Ter)
c.3981C>A (p.Cys1327Ter)
c.4647C>A (p.Cys1549Ter)
c.2772C>A (p.Cys924Ter)
c.4737C>A (p.Cys1579Ter)
c.4734C>A (p.Cys1578Ter)
c.4707C>A (p.Cys1569Ter)
c.4485C>A (p.Cys1495Ter)
c.4644C>A (p.Cys1548Ter)
c.4704C>A (p.Cys1568Ter)
4g.153636393C>GCA358506236TMEM131Lc.4650C>G (p.Cys1550Trp)
c.3981C>G (p.Cys1327Trp)
c.4647C>G (p.Cys1549Trp)
c.2772C>G (p.Cys924Trp)
c.4737C>G (p.Cys1579Trp)
c.4734C>G (p.Cys1578Trp)
c.4707C>G (p.Cys1569Trp)
c.4485C>G (p.Cys1495Trp)
c.4644C>G (p.Cys1548Trp)
c.4704C>G (p.Cys1568Trp)
4g.153636393C>TCA441799814TMEM131Lc.4650C>T (p.Cys1550=)
c.3981C>T (p.Cys1327=)
c.4647C>T (p.Cys1549=)
c.2772C>T (p.Cys924=)
c.4737C>T (p.Cys1579=)
c.4734C>T (p.Cys1578=)
c.4707C>T (p.Cys1569=)
c.4485C>T (p.Cys1495=)
c.4644C>T (p.Cys1548=)
c.4704C>T (p.Cys1568=)
4g.153636394C>ACA358506240TMEM131Lc.4651C>A (p.Pro1551Thr)
c.3982C>A (p.Pro1328Thr)
c.4648C>A (p.Pro1550Thr)
c.2773C>A (p.Pro925Thr)
c.4738C>A (p.Pro1580Thr)
c.4735C>A (p.Pro1579Thr)
c.4708C>A (p.Pro1570Thr)
c.4486C>A (p.Pro1496Thr)
c.4645C>A (p.Pro1549Thr)
c.4705C>A (p.Pro1569Thr)
4g.153636394C=CA1504512168TMEM131Lc.4651C= (p.Pro1551=)
c.3982C= (p.Pro1328=)
c.4648C= (p.Pro1550=)
c.2773C= (p.Pro925=)
c.4738C= (p.Pro1580=)
c.4735C= (p.Pro1579=)
c.4708C= (p.Pro1570=)
c.4486C= (p.Pro1496=)
c.4645C= (p.Pro1549=)
c.4705C= (p.Pro1569=)
4g.153636394C>GCA358506238TMEM131Lc.4651C>G (p.Pro1551Ala)
c.3982C>G (p.Pro1328Ala)
c.4648C>G (p.Pro1550Ala)
c.2773C>G (p.Pro925Ala)
c.4738C>G (p.Pro1580Ala)
c.4735C>G (p.Pro1579Ala)
c.4708C>G (p.Pro1570Ala)
c.4486C>G (p.Pro1496Ala)
c.4645C>G (p.Pro1549Ala)
c.4705C>G (p.Pro1569Ala)
4g.153636394C>TCA107951354TMEM131Lc.4651C>T (p.Pro1551Ser)
c.3982C>T (p.Pro1328Ser)
c.4648C>T (p.Pro1550Ser)
c.2773C>T (p.Pro925Ser)
c.4738C>T (p.Pro1580Ser)
c.4735C>T (p.Pro1579Ser)
c.4708C>T (p.Pro1570Ser)
c.4486C>T (p.Pro1496Ser)
c.4645C>T (p.Pro1549Ser)
c.4705C>T (p.Pro1569Ser)
 dbSNP
4g.153636395C>ACA358506242TMEM131Lc.4652C>A (p.Pro1551His)
c.3983C>A (p.Pro1328His)
c.4649C>A (p.Pro1550His)
c.2774C>A (p.Pro925His)
c.4739C>A (p.Pro1580His)
c.4736C>A (p.Pro1579His)
c.4709C>A (p.Pro1570His)
c.4487C>A (p.Pro1496His)
c.4646C>A (p.Pro1549His)
c.4706C>A (p.Pro1569His)
4g.153636395C>GCA358506244TMEM131Lc.4652C>G (p.Pro1551Arg)
c.3983C>G (p.Pro1328Arg)
c.4649C>G (p.Pro1550Arg)
c.2774C>G (p.Pro925Arg)
c.4739C>G (p.Pro1580Arg)
c.4736C>G (p.Pro1579Arg)
c.4709C>G (p.Pro1570Arg)
c.4487C>G (p.Pro1496Arg)
c.4646C>G (p.Pro1549Arg)
c.4706C>G (p.Pro1569Arg)
4g.153636395C>TCA358506246TMEM131Lc.4652C>T (p.Pro1551Leu)
c.3983C>T (p.Pro1328Leu)
c.4649C>T (p.Pro1550Leu)
c.2774C>T (p.Pro925Leu)
c.4739C>T (p.Pro1580Leu)
c.4736C>T (p.Pro1579Leu)
c.4709C>T (p.Pro1570Leu)
c.4487C>T (p.Pro1496Leu)
c.4646C>T (p.Pro1549Leu)
c.4706C>T (p.Pro1569Leu)
4g.153636396C>ACA441799815TMEM131Lc.4653C>A (p.Pro1551=)
c.3984C>A (p.Pro1328=)
c.4650C>A (p.Pro1550=)
c.2775C>A (p.Pro925=)
c.4740C>A (p.Pro1580=)
c.4737C>A (p.Pro1579=)
c.4710C>A (p.Pro1570=)
c.4488C>A (p.Pro1496=)
c.4647C>A (p.Pro1549=)
c.4707C>A (p.Pro1569=)
4g.153636396C>GCA441799817TMEM131Lc.4653C>G (p.Pro1551=)
c.3984C>G (p.Pro1328=)
c.4650C>G (p.Pro1550=)
c.2775C>G (p.Pro925=)
c.4740C>G (p.Pro1580=)
c.4737C>G (p.Pro1579=)
c.4710C>G (p.Pro1570=)
c.4488C>G (p.Pro1496=)
c.4647C>G (p.Pro1549=)
c.4707C>G (p.Pro1569=)
4g.153636396C>TCA441799816TMEM131Lc.4653C>T (p.Pro1551=)
c.3984C>T (p.Pro1328=)
c.4650C>T (p.Pro1550=)
c.2775C>T (p.Pro925=)
c.4740C>T (p.Pro1580=)
c.4737C>T (p.Pro1579=)
c.4710C>T (p.Pro1570=)
c.4488C>T (p.Pro1496=)
c.4647C>T (p.Pro1549=)
c.4707C>T (p.Pro1569=)
4g.153636397delCA2672415923TMEM131Lc.4654del (p.Ile1552SerfsTer?)
c.3985del (p.Ile1329SerfsTer?)
c.4651del (p.Ile1551SerfsTer?)
c.2776del (p.Ile926SerfsTer?)
c.4741del (p.Ile1581SerfsTer?)
c.4738del (p.Ile1580SerfsTer?)
c.4711del (p.Ile1571SerfsTer?)
c.4489del (p.Ile1497SerfsTer?)
c.4648del (p.Ile1550SerfsTer?)
c.4708del (p.Ile1570SerfsTer?)
 gnomAD v4
4g.153636397A=CA1504512169TMEM131Lc.4654A= (p.Ile1552=)
c.3985A= (p.Ile1329=)
c.4651A= (p.Ile1551=)
c.2776A= (p.Ile926=)
c.4741A= (p.Ile1581=)
c.4738A= (p.Ile1580=)
c.4711A= (p.Ile1571=)
c.4489A= (p.Ile1497=)
c.4648A= (p.Ile1550=)
c.4708A= (p.Ile1570=)
4g.153636397A>CCA358506248TMEM131Lc.4654A>C (p.Ile1552Leu)
c.3985A>C (p.Ile1329Leu)
c.4651A>C (p.Ile1551Leu)
c.2776A>C (p.Ile926Leu)
c.4741A>C (p.Ile1581Leu)
c.4738A>C (p.Ile1580Leu)
c.4711A>C (p.Ile1571Leu)
c.4489A>C (p.Ile1497Leu)
c.4648A>C (p.Ile1550Leu)
c.4708A>C (p.Ile1570Leu)
4g.153636397A>GCA107951357TMEM131Lc.4654A>G (p.Ile1552Val)
c.3985A>G (p.Ile1329Val)
c.4651A>G (p.Ile1551Val)
c.2776A>G (p.Ile926Val)
c.4741A>G (p.Ile1581Val)
c.4738A>G (p.Ile1580Val)
c.4711A>G (p.Ile1571Val)
c.4489A>G (p.Ile1497Val)
c.4648A>G (p.Ile1550Val)
c.4708A>G (p.Ile1570Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.153636397A>TCA358506250TMEM131Lc.4654A>T (p.Ile1552Phe)
c.3985A>T (p.Ile1329Phe)
c.4651A>T (p.Ile1551Phe)
c.2776A>T (p.Ile926Phe)
c.4741A>T (p.Ile1581Phe)
c.4738A>T (p.Ile1580Phe)
c.4711A>T (p.Ile1571Phe)
c.4489A>T (p.Ile1497Phe)
c.4648A>T (p.Ile1550Phe)
c.4708A>T (p.Ile1570Phe)
4g.153636398T>ACA358506253TMEM131Lc.4655T>A (p.Ile1552Asn)
c.3986T>A (p.Ile1329Asn)
c.4652T>A (p.Ile1551Asn)
c.2777T>A (p.Ile926Asn)
c.4742T>A (p.Ile1581Asn)
c.4739T>A (p.Ile1580Asn)
c.4712T>A (p.Ile1571Asn)
c.4490T>A (p.Ile1497Asn)
c.4649T>A (p.Ile1550Asn)
c.4709T>A (p.Ile1570Asn)
4g.153636398T>CCA358506255TMEM131Lc.4655T>C (p.Ile1552Thr)
c.3986T>C (p.Ile1329Thr)
c.4652T>C (p.Ile1551Thr)
c.2777T>C (p.Ile926Thr)
c.4742T>C (p.Ile1581Thr)
c.4739T>C (p.Ile1580Thr)
c.4712T>C (p.Ile1571Thr)
c.4490T>C (p.Ile1497Thr)
c.4649T>C (p.Ile1550Thr)
c.4709T>C (p.Ile1570Thr)
4g.153636398T>GCA358506256TMEM131Lc.4655T>G (p.Ile1552Ser)
c.3986T>G (p.Ile1329Ser)
c.4652T>G (p.Ile1551Ser)
c.2777T>G (p.Ile926Ser)
c.4742T>G (p.Ile1581Ser)
c.4739T>G (p.Ile1580Ser)
c.4712T>G (p.Ile1571Ser)
c.4490T>G (p.Ile1497Ser)
c.4649T>G (p.Ile1550Ser)
c.4709T>G (p.Ile1570Ser)
4g.153636399C>ACA441799818TMEM131Lc.4656C>A (p.Ile1552=)
c.3987C>A (p.Ile1329=)
c.4653C>A (p.Ile1551=)
c.2778C>A (p.Ile926=)
c.4743C>A (p.Ile1581=)
c.4740C>A (p.Ile1580=)
c.4713C>A (p.Ile1571=)
c.4491C>A (p.Ile1497=)
c.4650C>A (p.Ile1550=)
c.4710C>A (p.Ile1570=)
4g.153636399C=CA1504512170TMEM131Lc.4656C= (p.Ile1552=)
c.3987C= (p.Ile1329=)
c.4653C= (p.Ile1551=)
c.2778C= (p.Ile926=)
c.4743C= (p.Ile1581=)
c.4740C= (p.Ile1580=)
c.4713C= (p.Ile1571=)
c.4491C= (p.Ile1497=)
c.4650C= (p.Ile1550=)
c.4710C= (p.Ile1570=)
4g.153636399C>GCA358506259TMEM131Lc.4656C>G (p.Ile1552Met)
c.3987C>G (p.Ile1329Met)
c.4653C>G (p.Ile1551Met)
c.2778C>G (p.Ile926Met)
c.4743C>G (p.Ile1581Met)
c.4740C>G (p.Ile1580Met)
c.4713C>G (p.Ile1571Met)
c.4491C>G (p.Ile1497Met)
c.4650C>G (p.Ile1550Met)
c.4710C>G (p.Ile1570Met)
4g.153636399C>TCA441799819TMEM131Lc.4656C>T (p.Ile1552=)
c.3987C>T (p.Ile1329=)
c.4653C>T (p.Ile1551=)
c.2778C>T (p.Ile926=)
c.4743C>T (p.Ile1581=)
c.4740C>T (p.Ile1580=)
c.4713C>T (p.Ile1571=)
c.4491C>T (p.Ile1497=)
c.4650C>T (p.Ile1550=)
c.4710C>T (p.Ile1570=)
 dbSNP gnomAD v4
4g.153636400A>CCA358506264TMEM131Lc.4657A>C (p.Asn1553His)
c.3988A>C (p.Asn1330His)
c.4654A>C (p.Asn1552His)
c.2779A>C (p.Asn927His)
c.4744A>C (p.Asn1582His)
c.4741A>C (p.Asn1581His)
c.4714A>C (p.Asn1572His)
c.4492A>C (p.Asn1498His)
c.4651A>C (p.Asn1551His)
c.4711A>C (p.Asn1571His)
4g.153636400A>GCA358506265TMEM131Lc.4657A>G (p.Asn1553Asp)
c.3988A>G (p.Asn1330Asp)
c.4654A>G (p.Asn1552Asp)
c.2779A>G (p.Asn927Asp)
c.4744A>G (p.Asn1582Asp)
c.4741A>G (p.Asn1581Asp)
c.4714A>G (p.Asn1572Asp)
c.4492A>G (p.Asn1498Asp)
c.4651A>G (p.Asn1551Asp)
c.4711A>G (p.Asn1571Asp)
4g.153636400A>TCA358506261TMEM131Lc.4657A>T (p.Asn1553Tyr)
c.3988A>T (p.Asn1330Tyr)
c.4654A>T (p.Asn1552Tyr)
c.2779A>T (p.Asn927Tyr)
c.4744A>T (p.Asn1582Tyr)
c.4741A>T (p.Asn1581Tyr)
c.4714A>T (p.Asn1572Tyr)
c.4492A>T (p.Asn1498Tyr)
c.4651A>T (p.Asn1551Tyr)
c.4711A>T (p.Asn1571Tyr)
4g.153636401A>CCA358506266TMEM131Lc.4658A>C (p.Asn1553Thr)
c.3989A>C (p.Asn1330Thr)
c.4655A>C (p.Asn1552Thr)
c.2780A>C (p.Asn927Thr)
c.4745A>C (p.Asn1582Thr)
c.4742A>C (p.Asn1581Thr)
c.4715A>C (p.Asn1572Thr)
c.4493A>C (p.Asn1498Thr)
c.4652A>C (p.Asn1551Thr)
c.4712A>C (p.Asn1571Thr)
4g.153636401A>GCA358506268TMEM131Lc.4658A>G (p.Asn1553Ser)
c.3989A>G (p.Asn1330Ser)
c.4655A>G (p.Asn1552Ser)
c.2780A>G (p.Asn927Ser)
c.4745A>G (p.Asn1582Ser)
c.4742A>G (p.Asn1581Ser)
c.4715A>G (p.Asn1572Ser)
c.4493A>G (p.Asn1498Ser)
c.4652A>G (p.Asn1551Ser)
c.4712A>G (p.Asn1571Ser)
 gnomAD v4
4g.153636401A>TCA358506269TMEM131Lc.4658A>T (p.Asn1553Ile)
c.3989A>T (p.Asn1330Ile)
c.4655A>T (p.Asn1552Ile)
c.2780A>T (p.Asn927Ile)
c.4745A>T (p.Asn1582Ile)
c.4742A>T (p.Asn1581Ile)
c.4715A>T (p.Asn1572Ile)
c.4493A>T (p.Asn1498Ile)
c.4652A>T (p.Asn1551Ile)
c.4712A>T (p.Asn1571Ile)
4g.153636402C>ACA358506271TMEM131Lc.4659C>A (p.Asn1553Lys)
c.3990C>A (p.Asn1330Lys)
c.4656C>A (p.Asn1552Lys)
c.2781C>A (p.Asn927Lys)
c.4746C>A (p.Asn1582Lys)
c.4743C>A (p.Asn1581Lys)
c.4716C>A (p.Asn1572Lys)
c.4494C>A (p.Asn1498Lys)
c.4653C>A (p.Asn1551Lys)
c.4713C>A (p.Asn1571Lys)
4g.153636402C=CA1504512171TMEM131Lc.4659C= (p.Asn1553=)
c.3990C= (p.Asn1330=)
c.4656C= (p.Asn1552=)
c.2781C= (p.Asn927=)
c.4746C= (p.Asn1582=)
c.4743C= (p.Asn1581=)
c.4716C= (p.Asn1572=)
c.4494C= (p.Asn1498=)
c.4653C= (p.Asn1551=)
c.4713C= (p.Asn1571=)
4g.153636402C>GCA358506273TMEM131Lc.4659C>G (p.Asn1553Lys)
c.3990C>G (p.Asn1330Lys)
c.4656C>G (p.Asn1552Lys)
c.2781C>G (p.Asn927Lys)
c.4746C>G (p.Asn1582Lys)
c.4743C>G (p.Asn1581Lys)
c.4716C>G (p.Asn1572Lys)
c.4494C>G (p.Asn1498Lys)
c.4653C>G (p.Asn1551Lys)
c.4713C>G (p.Asn1571Lys)
4g.153636402C>TCA3110589TMEM131Lc.4659C>T (p.Asn1553=)
c.3990C>T (p.Asn1330=)
c.4656C>T (p.Asn1552=)
c.2781C>T (p.Asn927=)
c.4746C>T (p.Asn1582=)
c.4743C>T (p.Asn1581=)
c.4716C>T (p.Asn1572=)
c.4494C>T (p.Asn1498=)
c.4653C>T (p.Asn1551=)
c.4713C>T (p.Asn1571=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636403C>ACA3110590TMEM131Lc.4660C>A (p.Pro1554Thr)
c.3991C>A (p.Pro1331Thr)
c.4657C>A (p.Pro1553Thr)
c.2782C>A (p.Pro928Thr)
c.4747C>A (p.Pro1583Thr)
c.4744C>A (p.Pro1582Thr)
c.4717C>A (p.Pro1573Thr)
c.4495C>A (p.Pro1499Thr)
c.4654C>A (p.Pro1552Thr)
c.4714C>A (p.Pro1572Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636403C=CA1504512172TMEM131Lc.4660C= (p.Pro1554=)
c.3991C= (p.Pro1331=)
c.4657C= (p.Pro1553=)
c.2782C= (p.Pro928=)
c.4747C= (p.Pro1583=)
c.4744C= (p.Pro1582=)
c.4717C= (p.Pro1573=)
c.4495C= (p.Pro1499=)
c.4654C= (p.Pro1552=)
c.4714C= (p.Pro1572=)
4g.153636403C>GCA358506277TMEM131Lc.4660C>G (p.Pro1554Ala)
c.3991C>G (p.Pro1331Ala)
c.4657C>G (p.Pro1553Ala)
c.2782C>G (p.Pro928Ala)
c.4747C>G (p.Pro1583Ala)
c.4744C>G (p.Pro1582Ala)
c.4717C>G (p.Pro1573Ala)
c.4495C>G (p.Pro1499Ala)
c.4654C>G (p.Pro1552Ala)
c.4714C>G (p.Pro1572Ala)
4g.153636403C>TCA3110591TMEM131Lc.4660C>T (p.Pro1554Ser)
c.3991C>T (p.Pro1331Ser)
c.4657C>T (p.Pro1553Ser)
c.2782C>T (p.Pro928Ser)
c.4747C>T (p.Pro1583Ser)
c.4744C>T (p.Pro1582Ser)
c.4717C>T (p.Pro1573Ser)
c.4495C>T (p.Pro1499Ser)
c.4654C>T (p.Pro1552Ser)
c.4714C>T (p.Pro1572Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636404C>ACA358506281TMEM131Lc.4661C>A (p.Pro1554His)
c.3992C>A (p.Pro1331His)
c.4658C>A (p.Pro1553His)
c.2783C>A (p.Pro928His)
c.4748C>A (p.Pro1583His)
c.4745C>A (p.Pro1582His)
c.4718C>A (p.Pro1573His)
c.4496C>A (p.Pro1499His)
c.4655C>A (p.Pro1552His)
c.4715C>A (p.Pro1572His)
4g.153636404C>GCA358506282TMEM131Lc.4661C>G (p.Pro1554Arg)
c.3992C>G (p.Pro1331Arg)
c.4658C>G (p.Pro1553Arg)
c.2783C>G (p.Pro928Arg)
c.4748C>G (p.Pro1583Arg)
c.4745C>G (p.Pro1582Arg)
c.4718C>G (p.Pro1573Arg)
c.4496C>G (p.Pro1499Arg)
c.4655C>G (p.Pro1552Arg)
c.4715C>G (p.Pro1572Arg)
4g.153636404C>TCA358506284TMEM131Lc.4661C>T (p.Pro1554Leu)
c.3992C>T (p.Pro1331Leu)
c.4658C>T (p.Pro1553Leu)
c.2783C>T (p.Pro928Leu)
c.4748C>T (p.Pro1583Leu)
c.4745C>T (p.Pro1582Leu)
c.4718C>T (p.Pro1573Leu)
c.4496C>T (p.Pro1499Leu)
c.4655C>T (p.Pro1552Leu)
c.4715C>T (p.Pro1572Leu)
4g.153636405C>ACA441799820TMEM131Lc.4662C>A (p.Pro1554=)
c.3993C>A (p.Pro1331=)
c.4659C>A (p.Pro1553=)
c.2784C>A (p.Pro928=)
c.4749C>A (p.Pro1583=)
c.4746C>A (p.Pro1582=)
c.4719C>A (p.Pro1573=)
c.4497C>A (p.Pro1499=)
c.4656C>A (p.Pro1552=)
c.4716C>A (p.Pro1572=)
4g.153636405C>GCA441799821TMEM131Lc.4662C>G (p.Pro1554=)
c.3993C>G (p.Pro1331=)
c.4659C>G (p.Pro1553=)
c.2784C>G (p.Pro928=)
c.4749C>G (p.Pro1583=)
c.4746C>G (p.Pro1582=)
c.4719C>G (p.Pro1573=)
c.4497C>G (p.Pro1499=)
c.4656C>G (p.Pro1552=)
c.4716C>G (p.Pro1572=)
4g.153636405C>TCA441799822TMEM131Lc.4662C>T (p.Pro1554=)
c.3993C>T (p.Pro1331=)
c.4659C>T (p.Pro1553=)
c.2784C>T (p.Pro928=)
c.4749C>T (p.Pro1583=)
c.4746C>T (p.Pro1582=)
c.4719C>T (p.Pro1573=)
c.4497C>T (p.Pro1499=)
c.4656C>T (p.Pro1552=)
c.4716C>T (p.Pro1572=)
 gnomAD v4
4g.153636406A=CA1504512173TMEM131Lc.4663A= (p.Thr1555=)
c.3994A= (p.Thr1332=)
c.4660A= (p.Thr1554=)
c.2785A= (p.Thr929=)
c.4750A= (p.Thr1584=)
c.4747A= (p.Thr1583=)
c.4720A= (p.Thr1574=)
c.4498A= (p.Thr1500=)
c.4657A= (p.Thr1553=)
c.4717A= (p.Thr1573=)
4g.153636406A>CCA358506294TMEM131Lc.4663A>C (p.Thr1555Pro)
c.3994A>C (p.Thr1332Pro)
c.4660A>C (p.Thr1554Pro)
c.2785A>C (p.Thr929Pro)
c.4750A>C (p.Thr1584Pro)
c.4747A>C (p.Thr1583Pro)
c.4720A>C (p.Thr1574Pro)
c.4498A>C (p.Thr1500Pro)
c.4657A>C (p.Thr1553Pro)
c.4717A>C (p.Thr1573Pro)
4g.153636406A>GCA358506295TMEM131Lc.4663A>G (p.Thr1555Ala)
c.3994A>G (p.Thr1332Ala)
c.4660A>G (p.Thr1554Ala)
c.2785A>G (p.Thr929Ala)
c.4750A>G (p.Thr1584Ala)
c.4747A>G (p.Thr1583Ala)
c.4720A>G (p.Thr1574Ala)
c.4498A>G (p.Thr1500Ala)
c.4657A>G (p.Thr1553Ala)
c.4717A>G (p.Thr1573Ala)
 dbSNP
4g.153636406A>TCA358506292TMEM131Lc.4663A>T (p.Thr1555Ser)
c.3994A>T (p.Thr1332Ser)
c.4660A>T (p.Thr1554Ser)
c.2785A>T (p.Thr929Ser)
c.4750A>T (p.Thr1584Ser)
c.4747A>T (p.Thr1583Ser)
c.4720A>T (p.Thr1574Ser)
c.4498A>T (p.Thr1500Ser)
c.4657A>T (p.Thr1553Ser)
c.4717A>T (p.Thr1573Ser)
4g.153636407C>ACA358506297TMEM131Lc.4664C>A (p.Thr1555Asn)
c.3995C>A (p.Thr1332Asn)
c.4661C>A (p.Thr1554Asn)
c.2786C>A (p.Thr929Asn)
c.4751C>A (p.Thr1584Asn)
c.4748C>A (p.Thr1583Asn)
c.4721C>A (p.Thr1574Asn)
c.4499C>A (p.Thr1500Asn)
c.4658C>A (p.Thr1553Asn)
c.4718C>A (p.Thr1573Asn)
4g.153636407C>GCA358506299TMEM131Lc.4664C>G (p.Thr1555Ser)
c.3995C>G (p.Thr1332Ser)
c.4661C>G (p.Thr1554Ser)
c.2786C>G (p.Thr929Ser)
c.4751C>G (p.Thr1584Ser)
c.4748C>G (p.Thr1583Ser)
c.4721C>G (p.Thr1574Ser)
c.4499C>G (p.Thr1500Ser)
c.4658C>G (p.Thr1553Ser)
c.4718C>G (p.Thr1573Ser)
4g.153636407C>TCA358506300TMEM131Lc.4664C>T (p.Thr1555Ile)
c.3995C>T (p.Thr1332Ile)
c.4661C>T (p.Thr1554Ile)
c.2786C>T (p.Thr929Ile)
c.4751C>T (p.Thr1584Ile)
c.4748C>T (p.Thr1583Ile)
c.4721C>T (p.Thr1574Ile)
c.4499C>T (p.Thr1500Ile)
c.4658C>T (p.Thr1553Ile)
c.4718C>T (p.Thr1573Ile)
4g.153636408dupCA2672415941TMEM131Lc.4665dup (p.Thr1556HisfsTer?)
c.3996dup (p.Thr1333HisfsTer?)
c.4662dup (p.Thr1555HisfsTer?)
c.2787dup (p.Thr930HisfsTer?)
c.4752dup (p.Thr1585HisfsTer?)
c.4749dup (p.Thr1584HisfsTer?)
c.4722dup (p.Thr1575HisfsTer?)
c.4500dup (p.Thr1501HisfsTer?)
c.4659dup (p.Thr1554HisfsTer?)
c.4719dup (p.Thr1574HisfsTer?)
 gnomAD v4
4g.153636408C>ACA441799823TMEM131Lc.4665C>A (p.Thr1555=)
c.3996C>A (p.Thr1332=)
c.4662C>A (p.Thr1554=)
c.2787C>A (p.Thr929=)
c.4752C>A (p.Thr1584=)
c.4749C>A (p.Thr1583=)
c.4722C>A (p.Thr1574=)
c.4500C>A (p.Thr1500=)
c.4659C>A (p.Thr1553=)
c.4719C>A (p.Thr1573=)
4g.153636408C>GCA441799824TMEM131Lc.4665C>G (p.Thr1555=)
c.3996C>G (p.Thr1332=)
c.4662C>G (p.Thr1554=)
c.2787C>G (p.Thr929=)
c.4752C>G (p.Thr1584=)
c.4749C>G (p.Thr1583=)
c.4722C>G (p.Thr1574=)
c.4500C>G (p.Thr1500=)
c.4659C>G (p.Thr1553=)
c.4719C>G (p.Thr1573=)
4g.153636408C>TCA441799825TMEM131Lc.4665C>T (p.Thr1555=)
c.3996C>T (p.Thr1332=)
c.4662C>T (p.Thr1554=)
c.2787C>T (p.Thr929=)
c.4752C>T (p.Thr1584=)
c.4749C>T (p.Thr1583=)
c.4722C>T (p.Thr1574=)
c.4500C>T (p.Thr1500=)
c.4659C>T (p.Thr1553=)
c.4719C>T (p.Thr1573=)
4g.153636409A>CCA358506303TMEM131Lc.4666A>C (p.Thr1556Pro)
c.3997A>C (p.Thr1333Pro)
c.4663A>C (p.Thr1555Pro)
c.2788A>C (p.Thr930Pro)
c.4753A>C (p.Thr1585Pro)
c.4750A>C (p.Thr1584Pro)
c.4723A>C (p.Thr1575Pro)
c.4501A>C (p.Thr1501Pro)
c.4660A>C (p.Thr1554Pro)
c.4720A>C (p.Thr1574Pro)
4g.153636409A>GCA358506304TMEM131Lc.4666A>G (p.Thr1556Ala)
c.3997A>G (p.Thr1333Ala)
c.4663A>G (p.Thr1555Ala)
c.2788A>G (p.Thr930Ala)
c.4753A>G (p.Thr1585Ala)
c.4750A>G (p.Thr1584Ala)
c.4723A>G (p.Thr1575Ala)
c.4501A>G (p.Thr1501Ala)
c.4660A>G (p.Thr1554Ala)
c.4720A>G (p.Thr1574Ala)
4g.153636409A>TCA358506306TMEM131Lc.4666A>T (p.Thr1556Ser)
c.3997A>T (p.Thr1333Ser)
c.4663A>T (p.Thr1555Ser)
c.2788A>T (p.Thr930Ser)
c.4753A>T (p.Thr1585Ser)
c.4750A>T (p.Thr1584Ser)
c.4723A>T (p.Thr1575Ser)
c.4501A>T (p.Thr1501Ser)
c.4660A>T (p.Thr1554Ser)
c.4720A>T (p.Thr1574Ser)
4g.153636410C>ACA358506308TMEM131Lc.4667C>A (p.Thr1556Lys)
c.3998C>A (p.Thr1333Lys)
c.4664C>A (p.Thr1555Lys)
c.2789C>A (p.Thr930Lys)
c.4754C>A (p.Thr1585Lys)
c.4751C>A (p.Thr1584Lys)
c.4724C>A (p.Thr1575Lys)
c.4502C>A (p.Thr1501Lys)
c.4661C>A (p.Thr1554Lys)
c.4721C>A (p.Thr1574Lys)
4g.153636410C=CA1504512174TMEM131Lc.4667C= (p.Thr1556=)
c.3998C= (p.Thr1333=)
c.4664C= (p.Thr1555=)
c.2789C= (p.Thr930=)
c.4754C= (p.Thr1585=)
c.4751C= (p.Thr1584=)
c.4724C= (p.Thr1575=)
c.4502C= (p.Thr1501=)
c.4661C= (p.Thr1554=)
c.4721C= (p.Thr1574=)
4g.153636410C>GCA358506309TMEM131Lc.4667C>G (p.Thr1556Arg)
c.3998C>G (p.Thr1333Arg)
c.4664C>G (p.Thr1555Arg)
c.2789C>G (p.Thr930Arg)
c.4754C>G (p.Thr1585Arg)
c.4751C>G (p.Thr1584Arg)
c.4724C>G (p.Thr1575Arg)
c.4502C>G (p.Thr1501Arg)
c.4661C>G (p.Thr1554Arg)
c.4721C>G (p.Thr1574Arg)
4g.153636410C>TCA3110592TMEM131Lc.4667C>T (p.Thr1556Met)
c.3998C>T (p.Thr1333Met)
c.4664C>T (p.Thr1555Met)
c.2789C>T (p.Thr930Met)
c.4754C>T (p.Thr1585Met)
c.4751C>T (p.Thr1584Met)
c.4724C>T (p.Thr1575Met)
c.4502C>T (p.Thr1501Met)
c.4661C>T (p.Thr1554Met)
c.4721C>T (p.Thr1574Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636411G>ACA107951367TMEM131Lc.4668G>A (p.Thr1556=)
c.3999G>A (p.Thr1333=)
c.4665G>A (p.Thr1555=)
c.2790G>A (p.Thr930=)
c.4755G>A (p.Thr1585=)
c.4752G>A (p.Thr1584=)
c.4725G>A (p.Thr1575=)
c.4503G>A (p.Thr1501=)
c.4662G>A (p.Thr1554=)
c.4722G>A (p.Thr1574=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.153636411G>CCA441799826TMEM131Lc.4668G>C (p.Thr1556=)
c.3999G>C (p.Thr1333=)
c.4665G>C (p.Thr1555=)
c.2790G>C (p.Thr930=)
c.4755G>C (p.Thr1585=)
c.4752G>C (p.Thr1584=)
c.4725G>C (p.Thr1575=)
c.4503G>C (p.Thr1501=)
c.4662G>C (p.Thr1554=)
c.4722G>C (p.Thr1574=)
4g.153636411G=CA1504512175TMEM131Lc.4668G= (p.Thr1556=)
c.3999G= (p.Thr1333=)
c.4665G= (p.Thr1555=)
c.2790G= (p.Thr930=)
c.4755G= (p.Thr1585=)
c.4752G= (p.Thr1584=)
c.4725G= (p.Thr1575=)
c.4503G= (p.Thr1501=)
c.4662G= (p.Thr1554=)
c.4722G= (p.Thr1574=)
4g.153636411G>TCA441799827TMEM131Lc.4668G>T (p.Thr1556=)
c.3999G>T (p.Thr1333=)
c.4665G>T (p.Thr1555=)
c.2790G>T (p.Thr930=)
c.4755G>T (p.Thr1585=)
c.4752G>T (p.Thr1584=)
c.4725G>T (p.Thr1575=)
c.4503G>T (p.Thr1501=)
c.4662G>T (p.Thr1554=)
c.4722G>T (p.Thr1574=)
4g.153636412G>ACA358506313TMEM131Lc.4669G>A (p.Glu1557Lys)
c.4000G>A (p.Glu1334Lys)
c.4666G>A (p.Glu1556Lys)
c.2791G>A (p.Glu931Lys)
c.4756G>A (p.Glu1586Lys)
c.4753G>A (p.Glu1585Lys)
c.4726G>A (p.Glu1576Lys)
c.4504G>A (p.Glu1502Lys)
c.4663G>A (p.Glu1555Lys)
c.4723G>A (p.Glu1575Lys)
4g.153636412G>CCA358506315TMEM131Lc.4669G>C (p.Glu1557Gln)
c.4000G>C (p.Glu1334Gln)
c.4666G>C (p.Glu1556Gln)
c.2791G>C (p.Glu931Gln)
c.4756G>C (p.Glu1586Gln)
c.4753G>C (p.Glu1585Gln)
c.4726G>C (p.Glu1576Gln)
c.4504G>C (p.Glu1502Gln)
c.4663G>C (p.Glu1555Gln)
c.4723G>C (p.Glu1575Gln)
4g.153636412G=CA1504512176TMEM131Lc.4669G= (p.Glu1557=)
c.4000G= (p.Glu1334=)
c.4666G= (p.Glu1556=)
c.2791G= (p.Glu931=)
c.4756G= (p.Glu1586=)
c.4753G= (p.Glu1585=)
c.4726G= (p.Glu1576=)
c.4504G= (p.Glu1502=)
c.4663G= (p.Glu1555=)
c.4723G= (p.Glu1575=)
4g.153636412G>TCA358506317TMEM131Lc.4669G>T (p.Glu1557Ter)
c.4000G>T (p.Glu1334Ter)
c.4666G>T (p.Glu1556Ter)
c.2791G>T (p.Glu931Ter)
c.4756G>T (p.Glu1586Ter)
c.4753G>T (p.Glu1585Ter)
c.4726G>T (p.Glu1576Ter)
c.4504G>T (p.Glu1502Ter)
c.4663G>T (p.Glu1555Ter)
c.4723G>T (p.Glu1575Ter)
 dbSNP
4g.153636413A>CCA358506322TMEM131Lc.4670A>C (p.Glu1557Ala)
c.4001A>C (p.Glu1334Ala)
c.4667A>C (p.Glu1556Ala)
c.2792A>C (p.Glu931Ala)
c.4757A>C (p.Glu1586Ala)
c.4754A>C (p.Glu1585Ala)
c.4727A>C (p.Glu1576Ala)
c.4505A>C (p.Glu1502Ala)
c.4664A>C (p.Glu1555Ala)
c.4724A>C (p.Glu1575Ala)
4g.153636413A>GCA358506320TMEM131Lc.4670A>G (p.Glu1557Gly)
c.4001A>G (p.Glu1334Gly)
c.4667A>G (p.Glu1556Gly)
c.2792A>G (p.Glu931Gly)
c.4757A>G (p.Glu1586Gly)
c.4754A>G (p.Glu1585Gly)
c.4727A>G (p.Glu1576Gly)
c.4505A>G (p.Glu1502Gly)
c.4664A>G (p.Glu1555Gly)
c.4724A>G (p.Glu1575Gly)
4g.153636413A>TCA358506319TMEM131Lc.4670A>T (p.Glu1557Val)
c.4001A>T (p.Glu1334Val)
c.4667A>T (p.Glu1556Val)
c.2792A>T (p.Glu931Val)
c.4757A>T (p.Glu1586Val)
c.4754A>T (p.Glu1585Val)
c.4727A>T (p.Glu1576Val)
c.4505A>T (p.Glu1502Val)
c.4664A>T (p.Glu1555Val)
c.4724A>T (p.Glu1575Val)
4g.153636414A=CA1504512177TMEM131Lc.4671A= (p.Glu1557=)
c.4002A= (p.Glu1334=)
c.4668A= (p.Glu1556=)
c.2793A= (p.Glu931=)
c.4758A= (p.Glu1586=)
c.4755A= (p.Glu1585=)
c.4728A= (p.Glu1576=)
c.4506A= (p.Glu1502=)
c.4665A= (p.Glu1555=)
c.4725A= (p.Glu1575=)
4g.153636414A>CCA358506324TMEM131Lc.4671A>C (p.Glu1557Asp)
c.4002A>C (p.Glu1334Asp)
c.4668A>C (p.Glu1556Asp)
c.2793A>C (p.Glu931Asp)
c.4758A>C (p.Glu1586Asp)
c.4755A>C (p.Glu1585Asp)
c.4728A>C (p.Glu1576Asp)
c.4506A>C (p.Glu1502Asp)
c.4665A>C (p.Glu1555Asp)
c.4725A>C (p.Glu1575Asp)
4g.153636414A>GCA3110593TMEM131Lc.4671A>G (p.Glu1557=)
c.4002A>G (p.Glu1334=)
c.4668A>G (p.Glu1556=)
c.2793A>G (p.Glu931=)
c.4758A>G (p.Glu1586=)
c.4755A>G (p.Glu1585=)
c.4728A>G (p.Glu1576=)
c.4506A>G (p.Glu1502=)
c.4665A>G (p.Glu1555=)
c.4725A>G (p.Glu1575=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636414A>TCA358506325TMEM131Lc.4671A>T (p.Glu1557Asp)
c.4002A>T (p.Glu1334Asp)
c.4668A>T (p.Glu1556Asp)
c.2793A>T (p.Glu931Asp)
c.4758A>T (p.Glu1586Asp)
c.4755A>T (p.Glu1585Asp)
c.4728A>T (p.Glu1576Asp)
c.4506A>T (p.Glu1502Asp)
c.4665A>T (p.Glu1555Asp)
c.4725A>T (p.Glu1575Asp)
4g.153636415C>ACA358506328TMEM131Lc.4672C>A (p.His1558Asn)
c.4003C>A (p.His1335Asn)
c.4669C>A (p.His1557Asn)
c.2794C>A (p.His932Asn)
c.4759C>A (p.His1587Asn)
c.4756C>A (p.His1586Asn)
c.4729C>A (p.His1577Asn)
c.4507C>A (p.His1503Asn)
c.4666C>A (p.His1556Asn)
c.4726C>A (p.His1576Asn)
4g.153636415C>GCA358506332TMEM131Lc.4672C>G (p.His1558Asp)
c.4003C>G (p.His1335Asp)
c.4669C>G (p.His1557Asp)
c.2794C>G (p.His932Asp)
c.4759C>G (p.His1587Asp)
c.4756C>G (p.His1586Asp)
c.4729C>G (p.His1577Asp)
c.4507C>G (p.His1503Asp)
c.4666C>G (p.His1556Asp)
c.4726C>G (p.His1576Asp)
4g.153636415C>TCA358506330TMEM131Lc.4672C>T (p.His1558Tyr)
c.4003C>T (p.His1335Tyr)
c.4669C>T (p.His1557Tyr)
c.2794C>T (p.His932Tyr)
c.4759C>T (p.His1587Tyr)
c.4756C>T (p.His1586Tyr)
c.4729C>T (p.His1577Tyr)
c.4507C>T (p.His1503Tyr)
c.4666C>T (p.His1556Tyr)
c.4726C>T (p.His1576Tyr)
4g.153636416A=CA1504512178TMEM131Lc.4673A= (p.His1558=)
c.4004A= (p.His1335=)
c.4670A= (p.His1557=)
c.2795A= (p.His932=)
c.4760A= (p.His1587=)
c.4757A= (p.His1586=)
c.4730A= (p.His1577=)
c.4508A= (p.His1503=)
c.4667A= (p.His1556=)
c.4727A= (p.His1576=)
4g.153636416A>CCA358506334TMEM131Lc.4673A>C (p.His1558Pro)
c.4004A>C (p.His1335Pro)
c.4670A>C (p.His1557Pro)
c.2795A>C (p.His932Pro)
c.4760A>C (p.His1587Pro)
c.4757A>C (p.His1586Pro)
c.4730A>C (p.His1577Pro)
c.4508A>C (p.His1503Pro)
c.4667A>C (p.His1556Pro)
c.4727A>C (p.His1576Pro)
4g.153636416A>GCA3110594TMEM131Lc.4673A>G (p.His1558Arg)
c.4004A>G (p.His1335Arg)
c.4670A>G (p.His1557Arg)
c.2795A>G (p.His932Arg)
c.4760A>G (p.His1587Arg)
c.4757A>G (p.His1586Arg)
c.4730A>G (p.His1577Arg)
c.4508A>G (p.His1503Arg)
c.4667A>G (p.His1556Arg)
c.4727A>G (p.His1576Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636416A>TCA358506337TMEM131Lc.4673A>T (p.His1558Leu)
c.4004A>T (p.His1335Leu)
c.4670A>T (p.His1557Leu)
c.2795A>T (p.His932Leu)
c.4760A>T (p.His1587Leu)
c.4757A>T (p.His1586Leu)
c.4730A>T (p.His1577Leu)
c.4508A>T (p.His1503Leu)
c.4667A>T (p.His1556Leu)
c.4727A>T (p.His1576Leu)
4g.153636417T>ACA358506338TMEM131Lc.4674T>A (p.His1558Gln)
c.4005T>A (p.His1335Gln)
c.4671T>A (p.His1557Gln)
c.2796T>A (p.His932Gln)
c.4761T>A (p.His1587Gln)
c.4758T>A (p.His1586Gln)
c.4731T>A (p.His1577Gln)
c.4509T>A (p.His1503Gln)
c.4668T>A (p.His1556Gln)
c.4728T>A (p.His1576Gln)
 COSMIC COSMIC
4g.153636417T>CCA441799828TMEM131Lc.4674T>C (p.His1558=)
c.4005T>C (p.His1335=)
c.4671T>C (p.His1557=)
c.2796T>C (p.His932=)
c.4761T>C (p.His1587=)
c.4758T>C (p.His1586=)
c.4731T>C (p.His1577=)
c.4509T>C (p.His1503=)
c.4668T>C (p.His1556=)
c.4728T>C (p.His1576=)
4g.153636417T>GCA358506340TMEM131Lc.4674T>G (p.His1558Gln)
c.4005T>G (p.His1335Gln)
c.4671T>G (p.His1557Gln)
c.2796T>G (p.His932Gln)
c.4761T>G (p.His1587Gln)
c.4758T>G (p.His1586Gln)
c.4731T>G (p.His1577Gln)
c.4509T>G (p.His1503Gln)
c.4668T>G (p.His1556Gln)
c.4728T>G (p.His1576Gln)
4g.153636418T>ACA358506343TMEM131Lc.4675T>A (p.Ser1559Thr)
c.4006T>A (p.Ser1336Thr)
c.4672T>A (p.Ser1558Thr)
c.2797T>A (p.Ser933Thr)
c.4762T>A (p.Ser1588Thr)
c.4759T>A (p.Ser1587Thr)
c.4732T>A (p.Ser1578Thr)
c.4510T>A (p.Ser1504Thr)
c.4669T>A (p.Ser1557Thr)
c.4729T>A (p.Ser1577Thr)
4g.153636418T>CCA358506344TMEM131Lc.4675T>C (p.Ser1559Pro)
c.4006T>C (p.Ser1336Pro)
c.4672T>C (p.Ser1558Pro)
c.2797T>C (p.Ser933Pro)
c.4762T>C (p.Ser1588Pro)
c.4759T>C (p.Ser1587Pro)
c.4732T>C (p.Ser1578Pro)
c.4510T>C (p.Ser1504Pro)
c.4669T>C (p.Ser1557Pro)
c.4729T>C (p.Ser1577Pro)
 dbSNP gnomAD v2 gnomAD v4
4g.153636418T>GCA358506346TMEM131Lc.4675T>G (p.Ser1559Ala)
c.4006T>G (p.Ser1336Ala)
c.4672T>G (p.Ser1558Ala)
c.2797T>G (p.Ser933Ala)
c.4762T>G (p.Ser1588Ala)
c.4759T>G (p.Ser1587Ala)
c.4732T>G (p.Ser1578Ala)
c.4510T>G (p.Ser1504Ala)
c.4669T>G (p.Ser1557Ala)
c.4729T>G (p.Ser1577Ala)
4g.153636418T=CA1504512179TMEM131Lc.4675T= (p.Ser1559=)
c.4006T= (p.Ser1336=)
c.4672T= (p.Ser1558=)
c.2797T= (p.Ser933=)
c.4762T= (p.Ser1588=)
c.4759T= (p.Ser1587=)
c.4732T= (p.Ser1578=)
c.4510T= (p.Ser1504=)
c.4669T= (p.Ser1557=)
c.4729T= (p.Ser1577=)
4g.153636419C>ACA358506349TMEM131Lc.4676C>A (p.Ser1559Ter)
c.4007C>A (p.Ser1336Ter)
c.4673C>A (p.Ser1558Ter)
c.2798C>A (p.Ser933Ter)
c.4763C>A (p.Ser1588Ter)
c.4760C>A (p.Ser1587Ter)
c.4733C>A (p.Ser1578Ter)
c.4511C>A (p.Ser1504Ter)
c.4670C>A (p.Ser1557Ter)
c.4730C>A (p.Ser1577Ter)
4g.153636419C=CA1504512180TMEM131Lc.4676C= (p.Ser1559=)
c.4007C= (p.Ser1336=)
c.4673C= (p.Ser1558=)
c.2798C= (p.Ser933=)
c.4763C= (p.Ser1588=)
c.4760C= (p.Ser1587=)
c.4733C= (p.Ser1578=)
c.4511C= (p.Ser1504=)
c.4670C= (p.Ser1557=)
c.4730C= (p.Ser1577=)
4g.153636419C>GCA107951376TMEM131Lc.4676C>G (p.Ser1559Trp)
c.4007C>G (p.Ser1336Trp)
c.4673C>G (p.Ser1558Trp)
c.2798C>G (p.Ser933Trp)
c.4763C>G (p.Ser1588Trp)
c.4760C>G (p.Ser1587Trp)
c.4733C>G (p.Ser1578Trp)
c.4511C>G (p.Ser1504Trp)
c.4670C>G (p.Ser1557Trp)
c.4730C>G (p.Ser1577Trp)
 dbSNP gnomAD v3 gnomAD v4
4g.153636419C>TCA107951378TMEM131Lc.4676C>T (p.Ser1559Leu)
c.4007C>T (p.Ser1336Leu)
c.4673C>T (p.Ser1558Leu)
c.2798C>T (p.Ser933Leu)
c.4763C>T (p.Ser1588Leu)
c.4760C>T (p.Ser1587Leu)
c.4733C>T (p.Ser1578Leu)
c.4511C>T (p.Ser1504Leu)
c.4670C>T (p.Ser1557Leu)
c.4730C>T (p.Ser1577Leu)
 dbSNP gnomAD v4
4g.153636420G>ACA3110595TMEM131Lc.4677G>A (p.Ser1559=)
c.4008G>A (p.Ser1336=)
c.4674G>A (p.Ser1558=)
c.2799G>A (p.Ser933=)
c.4764G>A (p.Ser1588=)
c.4761G>A (p.Ser1587=)
c.4734G>A (p.Ser1578=)
c.4512G>A (p.Ser1504=)
c.4671G>A (p.Ser1557=)
c.4731G>A (p.Ser1577=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636420G>CCA441799830TMEM131Lc.4677G>C (p.Ser1559=)
c.4008G>C (p.Ser1336=)
c.4674G>C (p.Ser1558=)
c.2799G>C (p.Ser933=)
c.4764G>C (p.Ser1588=)
c.4761G>C (p.Ser1587=)
c.4734G>C (p.Ser1578=)
c.4512G>C (p.Ser1504=)
c.4671G>C (p.Ser1557=)
c.4731G>C (p.Ser1577=)
4g.153636420G=CA1504512181TMEM131Lc.4677G= (p.Ser1559=)
c.4008G= (p.Ser1336=)
c.4674G= (p.Ser1558=)
c.2799G= (p.Ser933=)
c.4764G= (p.Ser1588=)
c.4761G= (p.Ser1587=)
c.4734G= (p.Ser1578=)
c.4512G= (p.Ser1504=)
c.4671G= (p.Ser1557=)
c.4731G= (p.Ser1577=)
4g.153636420G>TCA441799829TMEM131Lc.4677G>T (p.Ser1559=)
c.4008G>T (p.Ser1336=)
c.4674G>T (p.Ser1558=)
c.2799G>T (p.Ser933=)
c.4764G>T (p.Ser1588=)
c.4761G>T (p.Ser1587=)
c.4734G>T (p.Ser1578=)
c.4512G>T (p.Ser1504=)
c.4671G>T (p.Ser1557=)
c.4731G>T (p.Ser1577=)
4g.153636421A>CCA358506358TMEM131Lc.4678A>C (p.Thr1560Pro)
c.4009A>C (p.Thr1337Pro)
c.4675A>C (p.Thr1559Pro)
c.2800A>C (p.Thr934Pro)
c.4765A>C (p.Thr1589Pro)
c.4762A>C (p.Thr1588Pro)
c.4735A>C (p.Thr1579Pro)
c.4513A>C (p.Thr1505Pro)
c.4672A>C (p.Thr1558Pro)
c.4732A>C (p.Thr1578Pro)
4g.153636421A>GCA358506364TMEM131Lc.4678A>G (p.Thr1560Ala)
c.4009A>G (p.Thr1337Ala)
c.4675A>G (p.Thr1559Ala)
c.2800A>G (p.Thr934Ala)
c.4765A>G (p.Thr1589Ala)
c.4762A>G (p.Thr1588Ala)
c.4735A>G (p.Thr1579Ala)
c.4513A>G (p.Thr1505Ala)
c.4672A>G (p.Thr1558Ala)
c.4732A>G (p.Thr1578Ala)
4g.153636421A>TCA358506361TMEM131Lc.4678A>T (p.Thr1560Ser)
c.4009A>T (p.Thr1337Ser)
c.4675A>T (p.Thr1559Ser)
c.2800A>T (p.Thr934Ser)
c.4765A>T (p.Thr1589Ser)
c.4762A>T (p.Thr1588Ser)
c.4735A>T (p.Thr1579Ser)
c.4513A>T (p.Thr1505Ser)
c.4672A>T (p.Thr1558Ser)
c.4732A>T (p.Thr1578Ser)
4g.153636422C>ACA3110596TMEM131Lc.4679C>A (p.Thr1560Asn)
c.4010C>A (p.Thr1337Asn)
c.4676C>A (p.Thr1559Asn)
c.2801C>A (p.Thr934Asn)
c.4766C>A (p.Thr1589Asn)
c.4763C>A (p.Thr1588Asn)
c.4736C>A (p.Thr1579Asn)
c.4514C>A (p.Thr1505Asn)
c.4673C>A (p.Thr1558Asn)
c.4733C>A (p.Thr1578Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636422C=CA1504512182TMEM131Lc.4679C= (p.Thr1560=)
c.4010C= (p.Thr1337=)
c.4676C= (p.Thr1559=)
c.2801C= (p.Thr934=)
c.4766C= (p.Thr1589=)
c.4763C= (p.Thr1588=)
c.4736C= (p.Thr1579=)
c.4514C= (p.Thr1505=)
c.4673C= (p.Thr1558=)
c.4733C= (p.Thr1578=)
4g.153636422C>GCA358506368TMEM131Lc.4679C>G (p.Thr1560Ser)
c.4010C>G (p.Thr1337Ser)
c.4676C>G (p.Thr1559Ser)
c.2801C>G (p.Thr934Ser)
c.4766C>G (p.Thr1589Ser)
c.4763C>G (p.Thr1588Ser)
c.4736C>G (p.Thr1579Ser)
c.4514C>G (p.Thr1505Ser)
c.4673C>G (p.Thr1558Ser)
c.4733C>G (p.Thr1578Ser)
 gnomAD v4
4g.153636422C>TCA358506370TMEM131Lc.4679C>T (p.Thr1560Ile)
c.4010C>T (p.Thr1337Ile)
c.4676C>T (p.Thr1559Ile)
c.2801C>T (p.Thr934Ile)
c.4766C>T (p.Thr1589Ile)
c.4763C>T (p.Thr1588Ile)
c.4736C>T (p.Thr1579Ile)
c.4514C>T (p.Thr1505Ile)
c.4673C>T (p.Thr1558Ile)
c.4733C>T (p.Thr1578Ile)
4g.153636423C>ACA441799831TMEM131Lc.4680C>A (p.Thr1560=)
c.4011C>A (p.Thr1337=)
c.4677C>A (p.Thr1559=)
c.2802C>A (p.Thr934=)
c.4767C>A (p.Thr1589=)
c.4764C>A (p.Thr1588=)
c.4737C>A (p.Thr1579=)
c.4515C>A (p.Thr1505=)
c.4674C>A (p.Thr1558=)
c.4734C>A (p.Thr1578=)
4g.153636423C>GCA441799833TMEM131Lc.4680C>G (p.Thr1560=)
c.4011C>G (p.Thr1337=)
c.4677C>G (p.Thr1559=)
c.2802C>G (p.Thr934=)
c.4767C>G (p.Thr1589=)
c.4764C>G (p.Thr1588=)
c.4737C>G (p.Thr1579=)
c.4515C>G (p.Thr1505=)
c.4674C>G (p.Thr1558=)
c.4734C>G (p.Thr1578=)
4g.153636423C>TCA441799832TMEM131Lc.4680C>T (p.Thr1560=)
c.4011C>T (p.Thr1337=)
c.4677C>T (p.Thr1559=)
c.2802C>T (p.Thr934=)
c.4767C>T (p.Thr1589=)
c.4764C>T (p.Thr1588=)
c.4737C>T (p.Thr1579=)
c.4515C>T (p.Thr1505=)
c.4674C>T (p.Thr1558=)
c.4734C>T (p.Thr1578=)
4g.153636424C>ACA358506373TMEM131Lc.4681C>A (p.His1561Asn)
c.4012C>A (p.His1338Asn)
c.4678C>A (p.His1560Asn)
c.2803C>A (p.His935Asn)
c.4768C>A (p.His1590Asn)
c.4765C>A (p.His1589Asn)
c.4738C>A (p.His1580Asn)
c.4516C>A (p.His1506Asn)
c.4675C>A (p.His1559Asn)
c.4735C>A (p.His1579Asn)
4g.153636424C>GCA358506374TMEM131Lc.4681C>G (p.His1561Asp)
c.4012C>G (p.His1338Asp)
c.4678C>G (p.His1560Asp)
c.2803C>G (p.His935Asp)
c.4768C>G (p.His1590Asp)
c.4765C>G (p.His1589Asp)
c.4738C>G (p.His1580Asp)
c.4516C>G (p.His1506Asp)
c.4675C>G (p.His1559Asp)
c.4735C>G (p.His1579Asp)
4g.153636424C>TCA358506377TMEM131Lc.4681C>T (p.His1561Tyr)
c.4012C>T (p.His1338Tyr)
c.4678C>T (p.His1560Tyr)
c.2803C>T (p.His935Tyr)
c.4768C>T (p.His1590Tyr)
c.4765C>T (p.His1589Tyr)
c.4738C>T (p.His1580Tyr)
c.4516C>T (p.His1506Tyr)
c.4675C>T (p.His1559Tyr)
c.4735C>T (p.His1579Tyr)
4g.153636425A>CCA358506379TMEM131Lc.4682A>C (p.His1561Pro)
c.4013A>C (p.His1338Pro)
c.4679A>C (p.His1560Pro)
c.2804A>C (p.His935Pro)
c.4769A>C (p.His1590Pro)
c.4766A>C (p.His1589Pro)
c.4739A>C (p.His1580Pro)
c.4517A>C (p.His1506Pro)
c.4676A>C (p.His1559Pro)
c.4736A>C (p.His1579Pro)
4g.153636425A>GCA358506381TMEM131Lc.4682A>G (p.His1561Arg)
c.4013A>G (p.His1338Arg)
c.4679A>G (p.His1560Arg)
c.2804A>G (p.His935Arg)
c.4769A>G (p.His1590Arg)
c.4766A>G (p.His1589Arg)
c.4739A>G (p.His1580Arg)
c.4517A>G (p.His1506Arg)
c.4676A>G (p.His1559Arg)
c.4736A>G (p.His1579Arg)
4g.153636425A>TCA358506384TMEM131Lc.4682A>T (p.His1561Leu)
c.4013A>T (p.His1338Leu)
c.4679A>T (p.His1560Leu)
c.2804A>T (p.His935Leu)
c.4769A>T (p.His1590Leu)
c.4766A>T (p.His1589Leu)
c.4739A>T (p.His1580Leu)
c.4517A>T (p.His1506Leu)
c.4676A>T (p.His1559Leu)
c.4736A>T (p.His1579Leu)
4g.153636426C>ACA358506389TMEM131Lc.4683C>A (p.His1561Gln)
c.4014C>A (p.His1338Gln)
c.4680C>A (p.His1560Gln)
c.2805C>A (p.His935Gln)
c.4770C>A (p.His1590Gln)
c.4767C>A (p.His1589Gln)
c.4740C>A (p.His1580Gln)
c.4518C>A (p.His1506Gln)
c.4677C>A (p.His1559Gln)
c.4737C>A (p.His1579Gln)
4g.153636426C>GCA358506386TMEM131Lc.4683C>G (p.His1561Gln)
c.4014C>G (p.His1338Gln)
c.4680C>G (p.His1560Gln)
c.2805C>G (p.His935Gln)
c.4770C>G (p.His1590Gln)
c.4767C>G (p.His1589Gln)
c.4740C>G (p.His1580Gln)
c.4518C>G (p.His1506Gln)
c.4677C>G (p.His1559Gln)
c.4737C>G (p.His1579Gln)
4g.153636426C>TCA441799834TMEM131Lc.4683C>T (p.His1561=)
c.4014C>T (p.His1338=)
c.4680C>T (p.His1560=)
c.2805C>T (p.His935=)
c.4770C>T (p.His1590=)
c.4767C>T (p.His1589=)
c.4740C>T (p.His1580=)
c.4518C>T (p.His1506=)
c.4677C>T (p.His1559=)
c.4737C>T (p.His1579=)
4g.153636427A=CA1504512183TMEM131Lc.4684A= (p.Met1562=)
c.4015A= (p.Met1339=)
c.4681A= (p.Met1561=)
c.2806A= (p.Met936=)
c.4771A= (p.Met1591=)
c.4768A= (p.Met1590=)
c.4741A= (p.Met1581=)
c.4519A= (p.Met1507=)
c.4678A= (p.Met1560=)
c.4738A= (p.Met1580=)
4g.153636427A>CCA358506391TMEM131Lc.4684A>C (p.Met1562Leu)
c.4015A>C (p.Met1339Leu)
c.4681A>C (p.Met1561Leu)
c.2806A>C (p.Met936Leu)
c.4771A>C (p.Met1591Leu)
c.4768A>C (p.Met1590Leu)
c.4741A>C (p.Met1581Leu)
c.4519A>C (p.Met1507Leu)
c.4678A>C (p.Met1560Leu)
c.4738A>C (p.Met1580Leu)
4g.153636427A>GCA3110597TMEM131Lc.4684A>G (p.Met1562Val)
c.4015A>G (p.Met1339Val)
c.4681A>G (p.Met1561Val)
c.2806A>G (p.Met936Val)
c.4771A>G (p.Met1591Val)
c.4768A>G (p.Met1590Val)
c.4741A>G (p.Met1581Val)
c.4519A>G (p.Met1507Val)
c.4678A>G (p.Met1560Val)
c.4738A>G (p.Met1580Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636427A>TCA358506397TMEM131Lc.4684A>T (p.Met1562Leu)
c.4015A>T (p.Met1339Leu)
c.4681A>T (p.Met1561Leu)
c.2806A>T (p.Met936Leu)
c.4771A>T (p.Met1591Leu)
c.4768A>T (p.Met1590Leu)
c.4741A>T (p.Met1581Leu)
c.4519A>T (p.Met1507Leu)
c.4678A>T (p.Met1560Leu)
c.4738A>T (p.Met1580Leu)
 gnomAD v4
4g.153636428T>ACA358506400TMEM131Lc.4685T>A (p.Met1562Lys)
c.4016T>A (p.Met1339Lys)
c.4682T>A (p.Met1561Lys)
c.2807T>A (p.Met936Lys)
c.4772T>A (p.Met1591Lys)
c.4769T>A (p.Met1590Lys)
c.4742T>A (p.Met1581Lys)
c.4520T>A (p.Met1507Lys)
c.4679T>A (p.Met1560Lys)
c.4739T>A (p.Met1580Lys)
 COSMIC COSMIC
4g.153636428T>CCA358506403TMEM131Lc.4685T>C (p.Met1562Thr)
c.4016T>C (p.Met1339Thr)
c.4682T>C (p.Met1561Thr)
c.2807T>C (p.Met936Thr)
c.4772T>C (p.Met1591Thr)
c.4769T>C (p.Met1590Thr)
c.4742T>C (p.Met1581Thr)
c.4520T>C (p.Met1507Thr)
c.4679T>C (p.Met1560Thr)
c.4739T>C (p.Met1580Thr)
 dbSNP gnomAD v4
4g.153636428T>GCA358506405TMEM131Lc.4685T>G (p.Met1562Arg)
c.4016T>G (p.Met1339Arg)
c.4682T>G (p.Met1561Arg)
c.2807T>G (p.Met936Arg)
c.4772T>G (p.Met1591Arg)
c.4769T>G (p.Met1590Arg)
c.4742T>G (p.Met1581Arg)
c.4520T>G (p.Met1507Arg)
c.4679T>G (p.Met1560Arg)
c.4739T>G (p.Met1580Arg)
4g.153636428T=CA1504512184TMEM131Lc.4685T= (p.Met1562=)
c.4016T= (p.Met1339=)
c.4682T= (p.Met1561=)
c.2807T= (p.Met936=)
c.4772T= (p.Met1591=)
c.4769T= (p.Met1590=)
c.4742T= (p.Met1581=)
c.4520T= (p.Met1507=)
c.4679T= (p.Met1560=)
c.4739T= (p.Met1580=)
4g.153636429G>ACA358506409TMEM131Lc.4686G>A (p.Met1562Ile)
c.4017G>A (p.Met1339Ile)
c.4683G>A (p.Met1561Ile)
c.2808G>A (p.Met936Ile)
c.4773G>A (p.Met1591Ile)
c.4770G>A (p.Met1590Ile)
c.4743G>A (p.Met1581Ile)
c.4521G>A (p.Met1507Ile)
c.4680G>A (p.Met1560Ile)
c.4740G>A (p.Met1580Ile)
4g.153636429G>CCA358506413TMEM131Lc.4686G>C (p.Met1562Ile)
c.4017G>C (p.Met1339Ile)
c.4683G>C (p.Met1561Ile)
c.2808G>C (p.Met936Ile)
c.4773G>C (p.Met1591Ile)
c.4770G>C (p.Met1590Ile)
c.4743G>C (p.Met1581Ile)
c.4521G>C (p.Met1507Ile)
c.4680G>C (p.Met1560Ile)
c.4740G>C (p.Met1580Ile)
4g.153636429G>TCA358506416TMEM131Lc.4686G>T (p.Met1562Ile)
c.4017G>T (p.Met1339Ile)
c.4683G>T (p.Met1561Ile)
c.2808G>T (p.Met936Ile)
c.4773G>T (p.Met1591Ile)
c.4770G>T (p.Met1590Ile)
c.4743G>T (p.Met1581Ile)
c.4521G>T (p.Met1507Ile)
c.4680G>T (p.Met1560Ile)
c.4740G>T (p.Met1580Ile)
4g.153636430dupCA107951390TMEM131Lc.4687dup (p.Glu1563GlyfsTer?)
c.4018dup (p.Glu1340GlyfsTer?)
c.4684dup (p.Glu1562GlyfsTer?)
c.2809dup (p.Glu937GlyfsTer?)
c.4774dup (p.Glu1592GlyfsTer?)
c.4771dup (p.Glu1591GlyfsTer?)
c.4744dup (p.Glu1582GlyfsTer?)
c.4522dup (p.Glu1508GlyfsTer?)
c.4681dup (p.Glu1561GlyfsTer?)
c.4741dup (p.Glu1581GlyfsTer?)
 dbSNP
4g.153636430G>ACA107951391TMEM131Lc.4687G>A (p.Glu1563Lys)
c.4018G>A (p.Glu1340Lys)
c.4684G>A (p.Glu1562Lys)
c.2809G>A (p.Glu937Lys)
c.4774G>A (p.Glu1592Lys)
c.4771G>A (p.Glu1591Lys)
c.4744G>A (p.Glu1582Lys)
c.4522G>A (p.Glu1508Lys)
c.4681G>A (p.Glu1561Lys)
c.4741G>A (p.Glu1581Lys)
 dbSNP gnomAD v3 gnomAD v4
4g.153636430G>CCA358506419TMEM131Lc.4687G>C (p.Glu1563Gln)
c.4018G>C (p.Glu1340Gln)
c.4684G>C (p.Glu1562Gln)
c.2809G>C (p.Glu937Gln)
c.4774G>C (p.Glu1592Gln)
c.4771G>C (p.Glu1591Gln)
c.4744G>C (p.Glu1582Gln)
c.4522G>C (p.Glu1508Gln)
c.4681G>C (p.Glu1561Gln)
c.4741G>C (p.Glu1581Gln)
4g.153636430G=CA1504512185TMEM131Lc.4687G= (p.Glu1563=)
c.4018G= (p.Glu1340=)
c.4684G= (p.Glu1562=)
c.2809G= (p.Glu937=)
c.4774G= (p.Glu1592=)
c.4771G= (p.Glu1591=)
c.4744G= (p.Glu1582=)
c.4522G= (p.Glu1508=)
c.4681G= (p.Glu1561=)
c.4741G= (p.Glu1581=)
4g.153636430G>TCA358506422TMEM131Lc.4687G>T (p.Glu1563Ter)
c.4018G>T (p.Glu1340Ter)
c.4684G>T (p.Glu1562Ter)
c.2809G>T (p.Glu937Ter)
c.4774G>T (p.Glu1592Ter)
c.4771G>T (p.Glu1591Ter)
c.4744G>T (p.Glu1582Ter)
c.4522G>T (p.Glu1508Ter)
c.4681G>T (p.Glu1561Ter)
c.4741G>T (p.Glu1581Ter)
4g.153636431A>CCA358506430TMEM131Lc.4688A>C (p.Glu1563Ala)
c.4019A>C (p.Glu1340Ala)
c.4685A>C (p.Glu1562Ala)
c.2810A>C (p.Glu937Ala)
c.4775A>C (p.Glu1592Ala)
c.4772A>C (p.Glu1591Ala)
c.4745A>C (p.Glu1582Ala)
c.4523A>C (p.Glu1508Ala)
c.4682A>C (p.Glu1561Ala)
c.4742A>C (p.Glu1581Ala)
4g.153636431A>GCA358506427TMEM131Lc.4688A>G (p.Glu1563Gly)
c.4019A>G (p.Glu1340Gly)
c.4685A>G (p.Glu1562Gly)
c.2810A>G (p.Glu937Gly)
c.4775A>G (p.Glu1592Gly)
c.4772A>G (p.Glu1591Gly)
c.4745A>G (p.Glu1582Gly)
c.4523A>G (p.Glu1508Gly)
c.4682A>G (p.Glu1561Gly)
c.4742A>G (p.Glu1581Gly)
4g.153636431A>TCA358506425TMEM131Lc.4688A>T (p.Glu1563Val)
c.4019A>T (p.Glu1340Val)
c.4685A>T (p.Glu1562Val)
c.2810A>T (p.Glu937Val)
c.4775A>T (p.Glu1592Val)
c.4772A>T (p.Glu1591Val)
c.4745A>T (p.Glu1582Val)
c.4523A>T (p.Glu1508Val)
c.4682A>T (p.Glu1561Val)
c.4742A>T (p.Glu1581Val)
4g.153636432A>CCA358506435TMEM131Lc.4689A>C (p.Glu1563Asp)
c.4020A>C (p.Glu1340Asp)
c.4686A>C (p.Glu1562Asp)
c.2811A>C (p.Glu937Asp)
c.4776A>C (p.Glu1592Asp)
c.4773A>C (p.Glu1591Asp)
c.4746A>C (p.Glu1582Asp)
c.4524A>C (p.Glu1508Asp)
c.4683A>C (p.Glu1561Asp)
c.4743A>C (p.Glu1581Asp)
4g.153636432A>GCA441799835TMEM131Lc.4689A>G (p.Glu1563=)
c.4020A>G (p.Glu1340=)
c.4686A>G (p.Glu1562=)
c.2811A>G (p.Glu937=)
c.4776A>G (p.Glu1592=)
c.4773A>G (p.Glu1591=)
c.4746A>G (p.Glu1582=)
c.4524A>G (p.Glu1508=)
c.4683A>G (p.Glu1561=)
c.4743A>G (p.Glu1581=)
4g.153636432A>TCA358506437TMEM131Lc.4689A>T (p.Glu1563Asp)
c.4020A>T (p.Glu1340Asp)
c.4686A>T (p.Glu1562Asp)
c.2811A>T (p.Glu937Asp)
c.4776A>T (p.Glu1592Asp)
c.4773A>T (p.Glu1591Asp)
c.4746A>T (p.Glu1582Asp)
c.4524A>T (p.Glu1508Asp)
c.4683A>T (p.Glu1561Asp)
c.4743A>T (p.Glu1581Asp)
4g.153636433A>CCA358506440TMEM131Lc.4690A>C (p.Asn1564His)
c.4021A>C (p.Asn1341His)
c.4687A>C (p.Asn1563His)
c.2812A>C (p.Asn938His)
c.4777A>C (p.Asn1593His)
c.4774A>C (p.Asn1592His)
c.4747A>C (p.Asn1583His)
c.4525A>C (p.Asn1509His)
c.4684A>C (p.Asn1562His)
c.4744A>C (p.Asn1582His)
4g.153636433A>GCA358506442TMEM131Lc.4690A>G (p.Asn1564Asp)
c.4021A>G (p.Asn1341Asp)
c.4687A>G (p.Asn1563Asp)
c.2812A>G (p.Asn938Asp)
c.4777A>G (p.Asn1593Asp)
c.4774A>G (p.Asn1592Asp)
c.4747A>G (p.Asn1583Asp)
c.4525A>G (p.Asn1509Asp)
c.4684A>G (p.Asn1562Asp)
c.4744A>G (p.Asn1582Asp)
4g.153636433A>TCA358506444TMEM131Lc.4690A>T (p.Asn1564Tyr)
c.4021A>T (p.Asn1341Tyr)
c.4687A>T (p.Asn1563Tyr)
c.2812A>T (p.Asn938Tyr)
c.4777A>T (p.Asn1593Tyr)
c.4774A>T (p.Asn1592Tyr)
c.4747A>T (p.Asn1583Tyr)
c.4525A>T (p.Asn1509Tyr)
c.4684A>T (p.Asn1562Tyr)
c.4744A>T (p.Asn1582Tyr)
4g.153636434A>CCA358506448TMEM131Lc.4691A>C (p.Asn1564Thr)
c.4022A>C (p.Asn1341Thr)
c.4688A>C (p.Asn1563Thr)
c.2813A>C (p.Asn938Thr)
c.4778A>C (p.Asn1593Thr)
c.4775A>C (p.Asn1592Thr)
c.4748A>C (p.Asn1583Thr)
c.4526A>C (p.Asn1509Thr)
c.4685A>C (p.Asn1562Thr)
c.4745A>C (p.Asn1582Thr)
4g.153636434A>GCA358506450TMEM131Lc.4691A>G (p.Asn1564Ser)
c.4022A>G (p.Asn1341Ser)
c.4688A>G (p.Asn1563Ser)
c.2813A>G (p.Asn938Ser)
c.4778A>G (p.Asn1593Ser)
c.4775A>G (p.Asn1592Ser)
c.4748A>G (p.Asn1583Ser)
c.4526A>G (p.Asn1509Ser)
c.4685A>G (p.Asn1562Ser)
c.4745A>G (p.Asn1582Ser)
4g.153636434A>TCA358506453TMEM131Lc.4691A>T (p.Asn1564Ile)
c.4022A>T (p.Asn1341Ile)
c.4688A>T (p.Asn1563Ile)
c.2813A>T (p.Asn938Ile)
c.4778A>T (p.Asn1593Ile)
c.4775A>T (p.Asn1592Ile)
c.4748A>T (p.Asn1583Ile)
c.4526A>T (p.Asn1509Ile)
c.4685A>T (p.Asn1562Ile)
c.4745A>T (p.Asn1582Ile)
4g.153636435C>ACA358506455TMEM131Lc.4692C>A (p.Asn1564Lys)
c.4023C>A (p.Asn1341Lys)
c.4689C>A (p.Asn1563Lys)
c.2814C>A (p.Asn938Lys)
c.4779C>A (p.Asn1593Lys)
c.4776C>A (p.Asn1592Lys)
c.4749C>A (p.Asn1583Lys)
c.4527C>A (p.Asn1509Lys)
c.4686C>A (p.Asn1562Lys)
c.4746C>A (p.Asn1582Lys)
4g.153636435C>GCA358506457TMEM131Lc.4692C>G (p.Asn1564Lys)
c.4023C>G (p.Asn1341Lys)
c.4689C>G (p.Asn1563Lys)
c.2814C>G (p.Asn938Lys)
c.4779C>G (p.Asn1593Lys)
c.4776C>G (p.Asn1592Lys)
c.4749C>G (p.Asn1583Lys)
c.4527C>G (p.Asn1509Lys)
c.4686C>G (p.Asn1562Lys)
c.4746C>G (p.Asn1582Lys)
4g.153636435C>TCA441799836TMEM131Lc.4692C>T (p.Asn1564=)
c.4023C>T (p.Asn1341=)
c.4689C>T (p.Asn1563=)
c.2814C>T (p.Asn938=)
c.4779C>T (p.Asn1593=)
c.4776C>T (p.Asn1592=)
c.4749C>T (p.Asn1583=)
c.4527C>T (p.Asn1509=)
c.4686C>T (p.Asn1562=)
c.4746C>T (p.Asn1582=)
4g.153636436C>ACA358506460TMEM131Lc.4693C>A (p.Gln1565Lys)
c.4024C>A (p.Gln1342Lys)
c.4690C>A (p.Gln1564Lys)
c.2815C>A (p.Gln939Lys)
c.4780C>A (p.Gln1594Lys)
c.4777C>A (p.Gln1593Lys)
c.4750C>A (p.Gln1584Lys)
c.4528C>A (p.Gln1510Lys)
c.4687C>A (p.Gln1563Lys)
c.4747C>A (p.Gln1583Lys)
4g.153636436C>GCA358506462TMEM131Lc.4693C>G (p.Gln1565Glu)
c.4024C>G (p.Gln1342Glu)
c.4690C>G (p.Gln1564Glu)
c.2815C>G (p.Gln939Glu)
c.4780C>G (p.Gln1594Glu)
c.4777C>G (p.Gln1593Glu)
c.4750C>G (p.Gln1584Glu)
c.4528C>G (p.Gln1510Glu)
c.4687C>G (p.Gln1563Glu)
c.4747C>G (p.Gln1583Glu)
4g.153636436C>TCA358506466TMEM131Lc.4693C>T (p.Gln1565Ter)
c.4024C>T (p.Gln1342Ter)
c.4690C>T (p.Gln1564Ter)
c.2815C>T (p.Gln939Ter)
c.4780C>T (p.Gln1594Ter)
c.4777C>T (p.Gln1593Ter)
c.4750C>T (p.Gln1584Ter)
c.4528C>T (p.Gln1510Ter)
c.4687C>T (p.Gln1563Ter)
c.4747C>T (p.Gln1583Ter)
4g.153636437A>CCA358506472TMEM131Lc.4694A>C (p.Gln1565Pro)
c.4025A>C (p.Gln1342Pro)
c.4691A>C (p.Gln1564Pro)
c.2816A>C (p.Gln939Pro)
c.4781A>C (p.Gln1594Pro)
c.4778A>C (p.Gln1593Pro)
c.4751A>C (p.Gln1584Pro)
c.4529A>C (p.Gln1510Pro)
c.4688A>C (p.Gln1563Pro)
c.4748A>C (p.Gln1583Pro)
4g.153636437A>GCA358506474TMEM131Lc.4694A>G (p.Gln1565Arg)
c.4025A>G (p.Gln1342Arg)
c.4691A>G (p.Gln1564Arg)
c.2816A>G (p.Gln939Arg)
c.4781A>G (p.Gln1594Arg)
c.4778A>G (p.Gln1593Arg)
c.4751A>G (p.Gln1584Arg)
c.4529A>G (p.Gln1510Arg)
c.4688A>G (p.Gln1563Arg)
c.4748A>G (p.Gln1583Arg)
4g.153636437A>TCA358506469TMEM131Lc.4694A>T (p.Gln1565Leu)
c.4025A>T (p.Gln1342Leu)
c.4691A>T (p.Gln1564Leu)
c.2816A>T (p.Gln939Leu)
c.4781A>T (p.Gln1594Leu)
c.4778A>T (p.Gln1593Leu)
c.4751A>T (p.Gln1584Leu)
c.4529A>T (p.Gln1510Leu)
c.4688A>T (p.Gln1563Leu)
c.4748A>T (p.Gln1583Leu)
4g.153636438A=CA1504512186TMEM131Lc.4695A= (p.Gln1565=)
c.4026A= (p.Gln1342=)
c.4692A= (p.Gln1564=)
c.2817A= (p.Gln939=)
c.4782A= (p.Gln1594=)
c.4779A= (p.Gln1593=)
c.4752A= (p.Gln1584=)
c.4530A= (p.Gln1510=)
c.4689A= (p.Gln1563=)
c.4749A= (p.Gln1583=)
4g.153636438A>CCA358506479TMEM131Lc.4695A>C (p.Gln1565His)
c.4026A>C (p.Gln1342His)
c.4692A>C (p.Gln1564His)
c.2817A>C (p.Gln939His)
c.4782A>C (p.Gln1594His)
c.4779A>C (p.Gln1593His)
c.4752A>C (p.Gln1584His)
c.4530A>C (p.Gln1510His)
c.4689A>C (p.Gln1563His)
c.4749A>C (p.Gln1583His)
4g.153636438A>GCA3110598TMEM131Lc.4695A>G (p.Gln1565=)
c.4026A>G (p.Gln1342=)
c.4692A>G (p.Gln1564=)
c.2817A>G (p.Gln939=)
c.4782A>G (p.Gln1594=)
c.4779A>G (p.Gln1593=)
c.4752A>G (p.Gln1584=)
c.4530A>G (p.Gln1510=)
c.4689A>G (p.Gln1563=)
c.4749A>G (p.Gln1583=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636438A>TCA358506483TMEM131Lc.4695A>T (p.Gln1565His)
c.4026A>T (p.Gln1342His)
c.4692A>T (p.Gln1564His)
c.2817A>T (p.Gln939His)
c.4782A>T (p.Gln1594His)
c.4779A>T (p.Gln1593His)
c.4752A>T (p.Gln1584His)
c.4530A>T (p.Gln1510His)
c.4689A>T (p.Gln1563His)
c.4749A>T (p.Gln1583His)
4g.153636439G>ACA358506486TMEM131Lc.4696G>A (p.Ala1566Thr)
c.4027G>A (p.Ala1343Thr)
c.4693G>A (p.Ala1565Thr)
c.2818G>A (p.Ala940Thr)
c.4783G>A (p.Ala1595Thr)
c.4780G>A (p.Ala1594Thr)
c.4753G>A (p.Ala1585Thr)
c.4531G>A (p.Ala1511Thr)
c.4690G>A (p.Ala1564Thr)
c.4750G>A (p.Ala1584Thr)
4g.153636439G>CCA358506488TMEM131Lc.4696G>C (p.Ala1566Pro)
c.4027G>C (p.Ala1343Pro)
c.4693G>C (p.Ala1565Pro)
c.2818G>C (p.Ala940Pro)
c.4783G>C (p.Ala1595Pro)
c.4780G>C (p.Ala1594Pro)
c.4753G>C (p.Ala1585Pro)
c.4531G>C (p.Ala1511Pro)
c.4690G>C (p.Ala1564Pro)
c.4750G>C (p.Ala1584Pro)
4g.153636439G>TCA358506491TMEM131Lc.4696G>T (p.Ala1566Ser)
c.4027G>T (p.Ala1343Ser)
c.4693G>T (p.Ala1565Ser)
c.2818G>T (p.Ala940Ser)
c.4783G>T (p.Ala1595Ser)
c.4780G>T (p.Ala1594Ser)
c.4753G>T (p.Ala1585Ser)
c.4531G>T (p.Ala1511Ser)
c.4690G>T (p.Ala1564Ser)
c.4750G>T (p.Ala1584Ser)
4g.153636440C>ACA358506494TMEM131Lc.4697C>A (p.Ala1566Glu)
c.4028C>A (p.Ala1343Glu)
c.4694C>A (p.Ala1565Glu)
c.2819C>A (p.Ala940Glu)
c.4784C>A (p.Ala1595Glu)
c.4781C>A (p.Ala1594Glu)
c.4754C>A (p.Ala1585Glu)
c.4532C>A (p.Ala1511Glu)
c.4691C>A (p.Ala1564Glu)
c.4751C>A (p.Ala1584Glu)
4g.153636440C=CA1504512187TMEM131Lc.4697C= (p.Ala1566=)
c.4028C= (p.Ala1343=)
c.4694C= (p.Ala1565=)
c.2819C= (p.Ala940=)
c.4784C= (p.Ala1595=)
c.4781C= (p.Ala1594=)
c.4754C= (p.Ala1585=)
c.4532C= (p.Ala1511=)
c.4691C= (p.Ala1564=)
c.4751C= (p.Ala1584=)
4g.153636440C>GCA358506496TMEM131Lc.4697C>G (p.Ala1566Gly)
c.4028C>G (p.Ala1343Gly)
c.4694C>G (p.Ala1565Gly)
c.2819C>G (p.Ala940Gly)
c.4784C>G (p.Ala1595Gly)
c.4781C>G (p.Ala1594Gly)
c.4754C>G (p.Ala1585Gly)
c.4532C>G (p.Ala1511Gly)
c.4691C>G (p.Ala1564Gly)
c.4751C>G (p.Ala1584Gly)
4g.153636440C>TCA3110599TMEM131Lc.4697C>T (p.Ala1566Val)
c.4028C>T (p.Ala1343Val)
c.4694C>T (p.Ala1565Val)
c.2819C>T (p.Ala940Val)
c.4784C>T (p.Ala1595Val)
c.4781C>T (p.Ala1594Val)
c.4754C>T (p.Ala1585Val)
c.4532C>T (p.Ala1511Val)
c.4691C>T (p.Ala1564Val)
c.4751C>T (p.Ala1584Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.153636441G>ACA3110600TMEM131Lc.4698G>A (p.Ala1566=)
c.4029G>A (p.Ala1343=)
c.4695G>A (p.Ala1565=)
c.2820G>A (p.Ala940=)
c.4785G>A (p.Ala1595=)
c.4782G>A (p.Ala1594=)
c.4755G>A (p.Ala1585=)
c.4533G>A (p.Ala1511=)
c.4692G>A (p.Ala1564=)
c.4752G>A (p.Ala1584=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636441G>CCA441799838TMEM131Lc.4698G>C (p.Ala1566=)
c.4029G>C (p.Ala1343=)
c.4695G>C (p.Ala1565=)
c.2820G>C (p.Ala940=)
c.4785G>C (p.Ala1595=)
c.4782G>C (p.Ala1594=)
c.4755G>C (p.Ala1585=)
c.4533G>C (p.Ala1511=)
c.4692G>C (p.Ala1564=)
c.4752G>C (p.Ala1584=)
4g.153636441G=CA1504512188TMEM131Lc.4698G= (p.Ala1566=)
c.4029G= (p.Ala1343=)
c.4695G= (p.Ala1565=)
c.2820G= (p.Ala940=)
c.4785G= (p.Ala1595=)
c.4782G= (p.Ala1594=)
c.4755G= (p.Ala1585=)
c.4533G= (p.Ala1511=)
c.4692G= (p.Ala1564=)
c.4752G= (p.Ala1584=)
4g.153636441G>TCA441799837TMEM131Lc.4698G>T (p.Ala1566=)
c.4029G>T (p.Ala1343=)
c.4695G>T (p.Ala1565=)
c.2820G>T (p.Ala940=)
c.4785G>T (p.Ala1595=)
c.4782G>T (p.Ala1594=)
c.4755G>T (p.Ala1585=)
c.4533G>T (p.Ala1511=)
c.4692G>T (p.Ala1564=)
c.4752G>T (p.Ala1584=)
 gnomAD v4
4g.153636442G>ACA358506505TMEM131Lc.4699G>A (p.Val1567Ile)
c.4030G>A (p.Val1344Ile)
c.4696G>A (p.Val1566Ile)
c.2821G>A (p.Val941Ile)
c.4786G>A (p.Val1596Ile)
c.4783G>A (p.Val1595Ile)
c.4756G>A (p.Val1586Ile)
c.4534G>A (p.Val1512Ile)
c.4693G>A (p.Val1565Ile)
c.4753G>A (p.Val1585Ile)
4g.153636442G>CCA358506506TMEM131Lc.4699G>C (p.Val1567Leu)
c.4030G>C (p.Val1344Leu)
c.4696G>C (p.Val1566Leu)
c.2821G>C (p.Val941Leu)
c.4786G>C (p.Val1596Leu)
c.4783G>C (p.Val1595Leu)
c.4756G>C (p.Val1586Leu)
c.4534G>C (p.Val1512Leu)
c.4693G>C (p.Val1565Leu)
c.4753G>C (p.Val1585Leu)
4g.153636442G>TCA358506507TMEM131Lc.4699G>T (p.Val1567Phe)
c.4030G>T (p.Val1344Phe)
c.4696G>T (p.Val1566Phe)
c.2821G>T (p.Val941Phe)
c.4786G>T (p.Val1596Phe)
c.4783G>T (p.Val1595Phe)
c.4756G>T (p.Val1586Phe)
c.4534G>T (p.Val1512Phe)
c.4693G>T (p.Val1565Phe)
c.4753G>T (p.Val1585Phe)
4g.153636443T>ACA358506515TMEM131Lc.4700T>A (p.Val1567Asp)
c.4031T>A (p.Val1344Asp)
c.4697T>A (p.Val1566Asp)
c.2822T>A (p.Val941Asp)
c.4787T>A (p.Val1596Asp)
c.4784T>A (p.Val1595Asp)
c.4757T>A (p.Val1586Asp)
c.4535T>A (p.Val1512Asp)
c.4694T>A (p.Val1565Asp)
c.4754T>A (p.Val1585Asp)
4g.153636443T>CCA358506514TMEM131Lc.4700T>C (p.Val1567Ala)
c.4031T>C (p.Val1344Ala)
c.4697T>C (p.Val1566Ala)
c.2822T>C (p.Val941Ala)
c.4787T>C (p.Val1596Ala)
c.4784T>C (p.Val1595Ala)
c.4757T>C (p.Val1586Ala)
c.4535T>C (p.Val1512Ala)
c.4694T>C (p.Val1565Ala)
c.4754T>C (p.Val1585Ala)
 gnomAD v4
4g.153636443T>GCA358506512TMEM131Lc.4700T>G (p.Val1567Gly)
c.4031T>G (p.Val1344Gly)
c.4697T>G (p.Val1566Gly)
c.2822T>G (p.Val941Gly)
c.4787T>G (p.Val1596Gly)
c.4784T>G (p.Val1595Gly)
c.4757T>G (p.Val1586Gly)
c.4535T>G (p.Val1512Gly)
c.4694T>G (p.Val1565Gly)
c.4754T>G (p.Val1585Gly)
4g.153636444C>ACA441799839TMEM131Lc.4701C>A (p.Val1567=)
c.4032C>A (p.Val1344=)
c.4698C>A (p.Val1566=)
c.2823C>A (p.Val941=)
c.4788C>A (p.Val1596=)
c.4785C>A (p.Val1595=)
c.4758C>A (p.Val1586=)
c.4536C>A (p.Val1512=)
c.4695C>A (p.Val1565=)
c.4755C>A (p.Val1585=)
4g.153636444C=CA1504512189TMEM131Lc.4701C= (p.Val1567=)
c.4032C= (p.Val1344=)
c.4698C= (p.Val1566=)
c.2823C= (p.Val941=)
c.4788C= (p.Val1596=)
c.4785C= (p.Val1595=)
c.4758C= (p.Val1586=)
c.4536C= (p.Val1512=)
c.4695C= (p.Val1565=)
c.4755C= (p.Val1585=)
4g.153636444C>GCA441799840TMEM131Lc.4701C>G (p.Val1567=)
c.4032C>G (p.Val1344=)
c.4698C>G (p.Val1566=)
c.2823C>G (p.Val941=)
c.4788C>G (p.Val1596=)
c.4785C>G (p.Val1595=)
c.4758C>G (p.Val1586=)
c.4536C>G (p.Val1512=)
c.4695C>G (p.Val1565=)
c.4755C>G (p.Val1585=)
4g.153636444C>TCA441799841TMEM131Lc.4701C>T (p.Val1567=)
c.4032C>T (p.Val1344=)
c.4698C>T (p.Val1566=)
c.2823C>T (p.Val941=)
c.4788C>T (p.Val1596=)
c.4785C>T (p.Val1595=)
c.4758C>T (p.Val1586=)
c.4536C>T (p.Val1512=)
c.4695C>T (p.Val1565=)
c.4755C>T (p.Val1585=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
4g.153636445G>ACA3110601TMEM131Lc.4702G>A (p.Val1568Met)
c.4033G>A (p.Val1345Met)
c.4699G>A (p.Val1567Met)
c.2824G>A (p.Val942Met)
c.4789G>A (p.Val1597Met)
c.4786G>A (p.Val1596Met)
c.4759G>A (p.Val1587Met)
c.4537G>A (p.Val1513Met)
c.4696G>A (p.Val1566Met)
c.4756G>A (p.Val1586Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636445G>CCA358506519TMEM131Lc.4702G>C (p.Val1568Leu)
c.4033G>C (p.Val1345Leu)
c.4699G>C (p.Val1567Leu)
c.2824G>C (p.Val942Leu)
c.4789G>C (p.Val1597Leu)
c.4786G>C (p.Val1596Leu)
c.4759G>C (p.Val1587Leu)
c.4537G>C (p.Val1513Leu)
c.4696G>C (p.Val1566Leu)
c.4756G>C (p.Val1586Leu)
 dbSNP
4g.153636445G=CA1504512190TMEM131Lc.4702G= (p.Val1568=)
c.4033G= (p.Val1345=)
c.4699G= (p.Val1567=)
c.2824G= (p.Val942=)
c.4789G= (p.Val1597=)
c.4786G= (p.Val1596=)
c.4759G= (p.Val1587=)
c.4537G= (p.Val1513=)
c.4696G= (p.Val1566=)
c.4756G= (p.Val1586=)
4g.153636445G>TCA358506523TMEM131Lc.4702G>T (p.Val1568Leu)
c.4033G>T (p.Val1345Leu)
c.4699G>T (p.Val1567Leu)
c.2824G>T (p.Val942Leu)
c.4789G>T (p.Val1597Leu)
c.4786G>T (p.Val1596Leu)
c.4759G>T (p.Val1587Leu)
c.4537G>T (p.Val1513Leu)
c.4696G>T (p.Val1566Leu)
c.4756G>T (p.Val1586Leu)
 gnomAD v4
4g.153636446T>ACA358506526TMEM131Lc.4703T>A (p.Val1568Glu)
c.4034T>A (p.Val1345Glu)
c.4700T>A (p.Val1567Glu)
c.2825T>A (p.Val942Glu)
c.4790T>A (p.Val1597Glu)
c.4787T>A (p.Val1596Glu)
c.4760T>A (p.Val1587Glu)
c.4538T>A (p.Val1513Glu)
c.4697T>A (p.Val1566Glu)
c.4757T>A (p.Val1586Glu)
4g.153636446T>CCA358506528TMEM131Lc.4703T>C (p.Val1568Ala)
c.4034T>C (p.Val1345Ala)
c.4700T>C (p.Val1567Ala)
c.2825T>C (p.Val942Ala)
c.4790T>C (p.Val1597Ala)
c.4787T>C (p.Val1596Ala)
c.4760T>C (p.Val1587Ala)
c.4538T>C (p.Val1513Ala)
c.4697T>C (p.Val1566Ala)
c.4757T>C (p.Val1586Ala)
4g.153636446T>GCA358506531TMEM131Lc.4703T>G (p.Val1568Gly)
c.4034T>G (p.Val1345Gly)
c.4700T>G (p.Val1567Gly)
c.2825T>G (p.Val942Gly)
c.4790T>G (p.Val1597Gly)
c.4787T>G (p.Val1596Gly)
c.4760T>G (p.Val1587Gly)
c.4538T>G (p.Val1513Gly)
c.4697T>G (p.Val1566Gly)
c.4757T>G (p.Val1586Gly)
4g.153636447G>ACA441799844TMEM131Lc.4704G>A (p.Val1568=)
c.4035G>A (p.Val1345=)
c.4701G>A (p.Val1567=)
c.2826G>A (p.Val942=)
c.4791G>A (p.Val1597=)
c.4788G>A (p.Val1596=)
c.4761G>A (p.Val1587=)
c.4539G>A (p.Val1513=)
c.4698G>A (p.Val1566=)
c.4758G>A (p.Val1586=)
4g.153636447G>CCA441799843TMEM131Lc.4704G>C (p.Val1568=)
c.4035G>C (p.Val1345=)
c.4701G>C (p.Val1567=)
c.2826G>C (p.Val942=)
c.4791G>C (p.Val1597=)
c.4788G>C (p.Val1596=)
c.4761G>C (p.Val1587=)
c.4539G>C (p.Val1513=)
c.4698G>C (p.Val1566=)
c.4758G>C (p.Val1586=)
4g.153636447G>TCA441799842TMEM131Lc.4704G>T (p.Val1568=)
c.4035G>T (p.Val1345=)
c.4701G>T (p.Val1567=)
c.2826G>T (p.Val942=)
c.4791G>T (p.Val1597=)
c.4788G>T (p.Val1596=)
c.4761G>T (p.Val1587=)
c.4539G>T (p.Val1513=)
c.4698G>T (p.Val1566=)
c.4758G>T (p.Val1586=)
4g.153636448T>ACA358506534TMEM131Lc.4705T>A (p.Cys1569Ser)
c.4036T>A (p.Cys1346Ser)
c.4702T>A (p.Cys1568Ser)
c.2827T>A (p.Cys943Ser)
c.4792T>A (p.Cys1598Ser)
c.4789T>A (p.Cys1597Ser)
c.4762T>A (p.Cys1588Ser)
c.4540T>A (p.Cys1514Ser)
c.4699T>A (p.Cys1567Ser)
c.4759T>A (p.Cys1587Ser)
4g.153636448T>CCA358506537TMEM131Lc.4705T>C (p.Cys1569Arg)
c.4036T>C (p.Cys1346Arg)
c.4702T>C (p.Cys1568Arg)
c.2827T>C (p.Cys943Arg)
c.4792T>C (p.Cys1598Arg)
c.4789T>C (p.Cys1597Arg)
c.4762T>C (p.Cys1588Arg)
c.4540T>C (p.Cys1514Arg)
c.4699T>C (p.Cys1567Arg)
c.4759T>C (p.Cys1587Arg)
4g.153636448T>GCA358506538TMEM131Lc.4705T>G (p.Cys1569Gly)
c.4036T>G (p.Cys1346Gly)
c.4702T>G (p.Cys1568Gly)
c.2827T>G (p.Cys943Gly)
c.4792T>G (p.Cys1598Gly)
c.4789T>G (p.Cys1597Gly)
c.4762T>G (p.Cys1588Gly)
c.4540T>G (p.Cys1514Gly)
c.4699T>G (p.Cys1567Gly)
c.4759T>G (p.Cys1587Gly)
4g.153636449G>ACA358506542TMEM131Lc.4706G>A (p.Cys1569Tyr)
c.4037G>A (p.Cys1346Tyr)
c.4703G>A (p.Cys1568Tyr)
c.2828G>A (p.Cys943Tyr)
c.4793G>A (p.Cys1598Tyr)
c.4790G>A (p.Cys1597Tyr)
c.4763G>A (p.Cys1588Tyr)
c.4541G>A (p.Cys1514Tyr)
c.4700G>A (p.Cys1567Tyr)
c.4760G>A (p.Cys1587Tyr)
4g.153636449G>CCA358506544TMEM131Lc.4706G>C (p.Cys1569Ser)
c.4037G>C (p.Cys1346Ser)
c.4703G>C (p.Cys1568Ser)
c.2828G>C (p.Cys943Ser)
c.4793G>C (p.Cys1598Ser)
c.4790G>C (p.Cys1597Ser)
c.4763G>C (p.Cys1588Ser)
c.4541G>C (p.Cys1514Ser)
c.4700G>C (p.Cys1567Ser)
c.4760G>C (p.Cys1587Ser)
4g.153636449G>TCA358506547TMEM131Lc.4706G>T (p.Cys1569Phe)
c.4037G>T (p.Cys1346Phe)
c.4703G>T (p.Cys1568Phe)
c.2828G>T (p.Cys943Phe)
c.4793G>T (p.Cys1598Phe)
c.4790G>T (p.Cys1597Phe)
c.4763G>T (p.Cys1588Phe)
c.4541G>T (p.Cys1514Phe)
c.4700G>T (p.Cys1567Phe)
c.4760G>T (p.Cys1587Phe)
4g.153636450C>ACA358506550TMEM131Lc.4707C>A (p.Cys1569Ter)
c.4038C>A (p.Cys1346Ter)
c.4704C>A (p.Cys1568Ter)
c.2829C>A (p.Cys943Ter)
c.4794C>A (p.Cys1598Ter)
c.4791C>A (p.Cys1597Ter)
c.4764C>A (p.Cys1588Ter)
c.4542C>A (p.Cys1514Ter)
c.4701C>A (p.Cys1567Ter)
c.4761C>A (p.Cys1587Ter)
4g.153636450C>GCA358506552TMEM131Lc.4707C>G (p.Cys1569Trp)
c.4038C>G (p.Cys1346Trp)
c.4704C>G (p.Cys1568Trp)
c.2829C>G (p.Cys943Trp)
c.4794C>G (p.Cys1598Trp)
c.4791C>G (p.Cys1597Trp)
c.4764C>G (p.Cys1588Trp)
c.4542C>G (p.Cys1514Trp)
c.4701C>G (p.Cys1567Trp)
c.4761C>G (p.Cys1587Trp)
4g.153636450C>TCA441799845TMEM131Lc.4707C>T (p.Cys1569=)
c.4038C>T (p.Cys1346=)
c.4704C>T (p.Cys1568=)
c.2829C>T (p.Cys943=)
c.4794C>T (p.Cys1598=)
c.4791C>T (p.Cys1597=)
c.4764C>T (p.Cys1588=)
c.4542C>T (p.Cys1514=)
c.4701C>T (p.Cys1567=)
c.4761C>T (p.Cys1587=)
4g.153636451A=CA1504512191TMEM131Lc.4708A= (p.Lys1570=)
c.4039A= (p.Lys1347=)
c.4705A= (p.Lys1569=)
c.2830A= (p.Lys944=)
c.4795A= (p.Lys1599=)
c.4792A= (p.Lys1598=)
c.4765A= (p.Lys1589=)
c.4543A= (p.Lys1515=)
c.4702A= (p.Lys1568=)
c.4762A= (p.Lys1588=)
4g.153636451A>CCA358506557TMEM131Lc.4708A>C (p.Lys1570Gln)
c.4039A>C (p.Lys1347Gln)
c.4705A>C (p.Lys1569Gln)
c.2830A>C (p.Lys944Gln)
c.4795A>C (p.Lys1599Gln)
c.4792A>C (p.Lys1598Gln)
c.4765A>C (p.Lys1589Gln)
c.4543A>C (p.Lys1515Gln)
c.4702A>C (p.Lys1568Gln)
c.4762A>C (p.Lys1588Gln)
4g.153636451A>GCA107951399TMEM131Lc.4708A>G (p.Lys1570Glu)
c.4039A>G (p.Lys1347Glu)
c.4705A>G (p.Lys1569Glu)
c.2830A>G (p.Lys944Glu)
c.4795A>G (p.Lys1599Glu)
c.4792A>G (p.Lys1598Glu)
c.4765A>G (p.Lys1589Glu)
c.4543A>G (p.Lys1515Glu)
c.4702A>G (p.Lys1568Glu)
c.4762A>G (p.Lys1588Glu)
 dbSNP
4g.153636451A>TCA358506555TMEM131Lc.4708A>T (p.Lys1570Ter)
c.4039A>T (p.Lys1347Ter)
c.4705A>T (p.Lys1569Ter)
c.2830A>T (p.Lys944Ter)
c.4795A>T (p.Lys1599Ter)
c.4792A>T (p.Lys1598Ter)
c.4765A>T (p.Lys1589Ter)
c.4543A>T (p.Lys1515Ter)
c.4702A>T (p.Lys1568Ter)
c.4762A>T (p.Lys1588Ter)
4g.153636452A>CCA358506562TMEM131Lc.4709A>C (p.Lys1570Thr)
c.4040A>C (p.Lys1347Thr)
c.4706A>C (p.Lys1569Thr)
c.2831A>C (p.Lys944Thr)
c.4796A>C (p.Lys1599Thr)
c.4793A>C (p.Lys1598Thr)
c.4766A>C (p.Lys1589Thr)
c.4544A>C (p.Lys1515Thr)
c.4703A>C (p.Lys1568Thr)
c.4763A>C (p.Lys1588Thr)
4g.153636452A>GCA358506565TMEM131Lc.4709A>G (p.Lys1570Arg)
c.4040A>G (p.Lys1347Arg)
c.4706A>G (p.Lys1569Arg)
c.2831A>G (p.Lys944Arg)
c.4796A>G (p.Lys1599Arg)
c.4793A>G (p.Lys1598Arg)
c.4766A>G (p.Lys1589Arg)
c.4544A>G (p.Lys1515Arg)
c.4703A>G (p.Lys1568Arg)
c.4763A>G (p.Lys1588Arg)
4g.153636452A>TCA358506568TMEM131Lc.4709A>T (p.Lys1570Met)
c.4040A>T (p.Lys1347Met)
c.4706A>T (p.Lys1569Met)
c.2831A>T (p.Lys944Met)
c.4796A>T (p.Lys1599Met)
c.4793A>T (p.Lys1598Met)
c.4766A>T (p.Lys1589Met)
c.4544A>T (p.Lys1515Met)
c.4703A>T (p.Lys1568Met)
c.4763A>T (p.Lys1588Met)
4g.153636453G>ACA441799846TMEM131Lc.4710G>A (p.Lys1570=)
c.4041G>A (p.Lys1347=)
c.4707G>A (p.Lys1569=)
c.2832G>A (p.Lys944=)
c.4797G>A (p.Lys1599=)
c.4794G>A (p.Lys1598=)
c.4767G>A (p.Lys1589=)
c.4545G>A (p.Lys1515=)
c.4704G>A (p.Lys1568=)
c.4764G>A (p.Lys1588=)
4g.153636453G>CCA358506571TMEM131Lc.4710G>C (p.Lys1570Asn)
c.4041G>C (p.Lys1347Asn)
c.4707G>C (p.Lys1569Asn)
c.2832G>C (p.Lys944Asn)
c.4797G>C (p.Lys1599Asn)
c.4794G>C (p.Lys1598Asn)
c.4767G>C (p.Lys1589Asn)
c.4545G>C (p.Lys1515Asn)
c.4704G>C (p.Lys1568Asn)
c.4764G>C (p.Lys1588Asn)
 gnomAD v4
4g.153636453G>TCA358506574TMEM131Lc.4710G>T (p.Lys1570Asn)
c.4041G>T (p.Lys1347Asn)
c.4707G>T (p.Lys1569Asn)
c.2832G>T (p.Lys944Asn)
c.4797G>T (p.Lys1599Asn)
c.4794G>T (p.Lys1598Asn)
c.4767G>T (p.Lys1589Asn)
c.4545G>T (p.Lys1515Asn)
c.4704G>T (p.Lys1568Asn)
c.4764G>T (p.Lys1588Asn)
4g.153636454G>ACA358506576TMEM131Lc.4711G>A (p.Glu1571Lys)
c.4042G>A (p.Glu1348Lys)
c.4708G>A (p.Glu1570Lys)
c.2833G>A (p.Glu945Lys)
c.4798G>A (p.Glu1600Lys)
c.4795G>A (p.Glu1599Lys)
c.4768G>A (p.Glu1590Lys)
c.4546G>A (p.Glu1516Lys)
c.4705G>A (p.Glu1569Lys)
c.4765G>A (p.Glu1589Lys)
4g.153636454G>CCA358506578TMEM131Lc.4711G>C (p.Glu1571Gln)
c.4042G>C (p.Glu1348Gln)
c.4708G>C (p.Glu1570Gln)
c.2833G>C (p.Glu945Gln)
c.4798G>C (p.Glu1600Gln)
c.4795G>C (p.Glu1599Gln)
c.4768G>C (p.Glu1590Gln)
c.4546G>C (p.Glu1516Gln)
c.4705G>C (p.Glu1569Gln)
c.4765G>C (p.Glu1589Gln)
4g.153636454G>TCA358506580TMEM131Lc.4711G>T (p.Glu1571Ter)
c.4042G>T (p.Glu1348Ter)
c.4708G>T (p.Glu1570Ter)
c.2833G>T (p.Glu945Ter)
c.4798G>T (p.Glu1600Ter)
c.4795G>T (p.Glu1599Ter)
c.4768G>T (p.Glu1590Ter)
c.4546G>T (p.Glu1516Ter)
c.4705G>T (p.Glu1569Ter)
c.4765G>T (p.Glu1589Ter)
4g.153636455A>CCA358506583TMEM131Lc.4712A>C (p.Glu1571Ala)
c.4043A>C (p.Glu1348Ala)
c.4709A>C (p.Glu1570Ala)
c.2834A>C (p.Glu945Ala)
c.4799A>C (p.Glu1600Ala)
c.4796A>C (p.Glu1599Ala)
c.4769A>C (p.Glu1590Ala)
c.4547A>C (p.Glu1516Ala)
c.4706A>C (p.Glu1569Ala)
c.4766A>C (p.Glu1589Ala)
4g.153636455A>GCA358506585TMEM131Lc.4712A>G (p.Glu1571Gly)
c.4043A>G (p.Glu1348Gly)
c.4709A>G (p.Glu1570Gly)
c.2834A>G (p.Glu945Gly)
c.4799A>G (p.Glu1600Gly)
c.4796A>G (p.Glu1599Gly)
c.4769A>G (p.Glu1590Gly)
c.4547A>G (p.Glu1516Gly)
c.4706A>G (p.Glu1569Gly)
c.4766A>G (p.Glu1589Gly)
4g.153636455A>TCA358506587TMEM131Lc.4712A>T (p.Glu1571Val)
c.4043A>T (p.Glu1348Val)
c.4709A>T (p.Glu1570Val)
c.2834A>T (p.Glu945Val)
c.4799A>T (p.Glu1600Val)
c.4796A>T (p.Glu1599Val)
c.4769A>T (p.Glu1590Val)
c.4547A>T (p.Glu1516Val)
c.4706A>T (p.Glu1569Val)
c.4766A>T (p.Glu1589Val)
4g.153636456A=CA1504512192TMEM131Lc.4713A= (p.Glu1571=)
c.4044A= (p.Glu1348=)
c.4710A= (p.Glu1570=)
c.2835A= (p.Glu945=)
c.4800A= (p.Glu1600=)
c.4797A= (p.Glu1599=)
c.4770A= (p.Glu1590=)
c.4548A= (p.Glu1516=)
c.4707A= (p.Glu1569=)
c.4767A= (p.Glu1589=)
4g.153636456A>CCA358506590TMEM131Lc.4713A>C (p.Glu1571Asp)
c.4044A>C (p.Glu1348Asp)
c.4710A>C (p.Glu1570Asp)
c.2835A>C (p.Glu945Asp)
c.4800A>C (p.Glu1600Asp)
c.4797A>C (p.Glu1599Asp)
c.4770A>C (p.Glu1590Asp)
c.4548A>C (p.Glu1516Asp)
c.4707A>C (p.Glu1569Asp)
c.4767A>C (p.Glu1589Asp)
 dbSNP gnomAD v2 gnomAD v4
4g.153636456A>GCA441799847TMEM131Lc.4713A>G (p.Glu1571=)
c.4044A>G (p.Glu1348=)
c.4710A>G (p.Glu1570=)
c.2835A>G (p.Glu945=)
c.4800A>G (p.Glu1600=)
c.4797A>G (p.Glu1599=)
c.4770A>G (p.Glu1590=)
c.4548A>G (p.Glu1516=)
c.4707A>G (p.Glu1569=)
c.4767A>G (p.Glu1589=)
 gnomAD v4
4g.153636456A>TCA358506593TMEM131Lc.4713A>T (p.Glu1571Asp)
c.4044A>T (p.Glu1348Asp)
c.4710A>T (p.Glu1570Asp)
c.2835A>T (p.Glu945Asp)
c.4800A>T (p.Glu1600Asp)
c.4797A>T (p.Glu1599Asp)
c.4770A>T (p.Glu1590Asp)
c.4548A>T (p.Glu1516Asp)
c.4707A>T (p.Glu1569Asp)
c.4767A>T (p.Glu1589Asp)
4g.153636457T>ACA358506601TMEM131Lc.4714T>A (p.Tyr1572Asn)
c.4045T>A (p.Tyr1349Asn)
c.4711T>A (p.Tyr1571Asn)
c.2836T>A (p.Tyr946Asn)
c.4801T>A (p.Tyr1601Asn)
c.4798T>A (p.Tyr1600Asn)
c.4771T>A (p.Tyr1591Asn)
c.4549T>A (p.Tyr1517Asn)
c.4708T>A (p.Tyr1570Asn)
c.4768T>A (p.Tyr1590Asn)
 COSMIC COSMIC
4g.153636457T>CCA358506596TMEM131Lc.4714T>C (p.Tyr1572His)
c.4045T>C (p.Tyr1349His)
c.4711T>C (p.Tyr1571His)
c.2836T>C (p.Tyr946His)
c.4801T>C (p.Tyr1601His)
c.4798T>C (p.Tyr1600His)
c.4771T>C (p.Tyr1591His)
c.4549T>C (p.Tyr1517His)
c.4708T>C (p.Tyr1570His)
c.4768T>C (p.Tyr1590His)
 COSMIC COSMIC
4g.153636457T>GCA358506598TMEM131Lc.4714T>G (p.Tyr1572Asp)
c.4045T>G (p.Tyr1349Asp)
c.4711T>G (p.Tyr1571Asp)
c.2836T>G (p.Tyr946Asp)
c.4801T>G (p.Tyr1601Asp)
c.4798T>G (p.Tyr1600Asp)
c.4771T>G (p.Tyr1591Asp)
c.4549T>G (p.Tyr1517Asp)
c.4708T>G (p.Tyr1570Asp)
c.4768T>G (p.Tyr1590Asp)
4g.153636458A>CCA358506604TMEM131Lc.4715A>C (p.Tyr1572Ser)
c.4046A>C (p.Tyr1349Ser)
c.4712A>C (p.Tyr1571Ser)
c.2837A>C (p.Tyr946Ser)
c.4802A>C (p.Tyr1601Ser)
c.4799A>C (p.Tyr1600Ser)
c.4772A>C (p.Tyr1591Ser)
c.4550A>C (p.Tyr1517Ser)
c.4709A>C (p.Tyr1570Ser)
c.4769A>C (p.Tyr1590Ser)
4g.153636458A>GCA358506607TMEM131Lc.4715A>G (p.Tyr1572Cys)
c.4046A>G (p.Tyr1349Cys)
c.4712A>G (p.Tyr1571Cys)
c.2837A>G (p.Tyr946Cys)
c.4802A>G (p.Tyr1601Cys)
c.4799A>G (p.Tyr1600Cys)
c.4772A>G (p.Tyr1591Cys)
c.4550A>G (p.Tyr1517Cys)
c.4709A>G (p.Tyr1570Cys)
c.4769A>G (p.Tyr1590Cys)
4g.153636458A>TCA358506612TMEM131Lc.4715A>T (p.Tyr1572Phe)
c.4046A>T (p.Tyr1349Phe)
c.4712A>T (p.Tyr1571Phe)
c.2837A>T (p.Tyr946Phe)
c.4802A>T (p.Tyr1601Phe)
c.4799A>T (p.Tyr1600Phe)
c.4772A>T (p.Tyr1591Phe)
c.4550A>T (p.Tyr1517Phe)
c.4709A>T (p.Tyr1570Phe)
c.4769A>T (p.Tyr1590Phe)
4g.153636459C>ACA358506615TMEM131Lc.4716C>A (p.Tyr1572Ter)
c.4047C>A (p.Tyr1349Ter)
c.4713C>A (p.Tyr1571Ter)
c.2838C>A (p.Tyr946Ter)
c.4803C>A (p.Tyr1601Ter)
c.4800C>A (p.Tyr1600Ter)
c.4773C>A (p.Tyr1591Ter)
c.4551C>A (p.Tyr1517Ter)
c.4710C>A (p.Tyr1570Ter)
c.4770C>A (p.Tyr1590Ter)
4g.153636459C>GCA358506616TMEM131Lc.4716C>G (p.Tyr1572Ter)
c.4047C>G (p.Tyr1349Ter)
c.4713C>G (p.Tyr1571Ter)
c.2838C>G (p.Tyr946Ter)
c.4803C>G (p.Tyr1601Ter)
c.4800C>G (p.Tyr1600Ter)
c.4773C>G (p.Tyr1591Ter)
c.4551C>G (p.Tyr1517Ter)
c.4710C>G (p.Tyr1570Ter)
c.4770C>G (p.Tyr1590Ter)
4g.153636459C>TCA441799848TMEM131Lc.4716C>T (p.Tyr1572=)
c.4047C>T (p.Tyr1349=)
c.4713C>T (p.Tyr1571=)
c.2838C>T (p.Tyr946=)
c.4803C>T (p.Tyr1601=)
c.4800C>T (p.Tyr1600=)
c.4773C>T (p.Tyr1591=)
c.4551C>T (p.Tyr1517=)
c.4710C>T (p.Tyr1570=)
c.4770C>T (p.Tyr1590=)
4g.153636460T>ACA358506619TMEM131Lc.4717T>A (p.Tyr1573Asn)
c.4048T>A (p.Tyr1350Asn)
c.4714T>A (p.Tyr1572Asn)
c.2839T>A (p.Tyr947Asn)
c.4804T>A (p.Tyr1602Asn)
c.4801T>A (p.Tyr1601Asn)
c.4774T>A (p.Tyr1592Asn)
c.4552T>A (p.Tyr1518Asn)
c.4711T>A (p.Tyr1571Asn)
c.4771T>A (p.Tyr1591Asn)
4g.153636460T>CCA358506622TMEM131Lc.4717T>C (p.Tyr1573His)
c.4048T>C (p.Tyr1350His)
c.4714T>C (p.Tyr1572His)
c.2839T>C (p.Tyr947His)
c.4804T>C (p.Tyr1602His)
c.4801T>C (p.Tyr1601His)
c.4774T>C (p.Tyr1592His)
c.4552T>C (p.Tyr1518His)
c.4711T>C (p.Tyr1571His)
c.4771T>C (p.Tyr1591His)
 gnomAD v4
4g.153636460T>GCA358506624TMEM131Lc.4717T>G (p.Tyr1573Asp)
c.4048T>G (p.Tyr1350Asp)
c.4714T>G (p.Tyr1572Asp)
c.2839T>G (p.Tyr947Asp)
c.4804T>G (p.Tyr1602Asp)
c.4801T>G (p.Tyr1601Asp)
c.4774T>G (p.Tyr1592Asp)
c.4552T>G (p.Tyr1518Asp)
c.4711T>G (p.Tyr1571Asp)
c.4771T>G (p.Tyr1591Asp)
4g.153636461A>CCA358506628TMEM131Lc.4718A>C (p.Tyr1573Ser)
c.4049A>C (p.Tyr1350Ser)
c.4715A>C (p.Tyr1572Ser)
c.2840A>C (p.Tyr947Ser)
c.4805A>C (p.Tyr1602Ser)
c.4802A>C (p.Tyr1601Ser)
c.4775A>C (p.Tyr1592Ser)
c.4553A>C (p.Tyr1518Ser)
c.4712A>C (p.Tyr1571Ser)
c.4772A>C (p.Tyr1591Ser)
4g.153636461A>GCA358506631TMEM131Lc.4718A>G (p.Tyr1573Cys)
c.4049A>G (p.Tyr1350Cys)
c.4715A>G (p.Tyr1572Cys)
c.2840A>G (p.Tyr947Cys)
c.4805A>G (p.Tyr1602Cys)
c.4802A>G (p.Tyr1601Cys)
c.4775A>G (p.Tyr1592Cys)
c.4553A>G (p.Tyr1518Cys)
c.4712A>G (p.Tyr1571Cys)
c.4772A>G (p.Tyr1591Cys)
 gnomAD v4
4g.153636461A>TCA358506634TMEM131Lc.4718A>T (p.Tyr1573Phe)
c.4049A>T (p.Tyr1350Phe)
c.4715A>T (p.Tyr1572Phe)
c.2840A>T (p.Tyr947Phe)
c.4805A>T (p.Tyr1602Phe)
c.4802A>T (p.Tyr1601Phe)
c.4775A>T (p.Tyr1592Phe)
c.4553A>T (p.Tyr1518Phe)
c.4712A>T (p.Tyr1571Phe)
c.4772A>T (p.Tyr1591Phe)
4g.153636461_153636463delCA2578215976TMEM131Lc.4718_4720del (p.Tyr1573_Pro1574delinsSer)
c.4049_4051del (p.Tyr1350_Pro1351delinsSer)
c.4715_4717del (p.Tyr1572_Pro1573delinsSer)
c.2840_2842del (p.Tyr947_Pro948delinsSer)
c.4805_4807del (p.Tyr1602_Pro1603delinsSer)
c.4802_4804del (p.Tyr1601_Pro1602delinsSer)
c.4775_4777del (p.Tyr1592_Pro1593delinsSer)
c.4553_4555del (p.Tyr1518_Pro1519delinsSer)
c.4712_4714del (p.Tyr1571_Pro1572delinsSer)
c.4772_4774del (p.Tyr1591_Pro1592delinsSer)
4g.153636462C>ACA358506637TMEM131Lc.4719C>A (p.Tyr1573Ter)
c.4050C>A (p.Tyr1350Ter)
c.4716C>A (p.Tyr1572Ter)
c.2841C>A (p.Tyr947Ter)
c.4806C>A (p.Tyr1602Ter)
c.4803C>A (p.Tyr1601Ter)
c.4776C>A (p.Tyr1592Ter)
c.4554C>A (p.Tyr1518Ter)
c.4713C>A (p.Tyr1571Ter)
c.4773C>A (p.Tyr1591Ter)
4g.153636462C>GCA358506639TMEM131Lc.4719C>G (p.Tyr1573Ter)
c.4050C>G (p.Tyr1350Ter)
c.4716C>G (p.Tyr1572Ter)
c.2841C>G (p.Tyr947Ter)
c.4806C>G (p.Tyr1602Ter)
c.4803C>G (p.Tyr1601Ter)
c.4776C>G (p.Tyr1592Ter)
c.4554C>G (p.Tyr1518Ter)
c.4713C>G (p.Tyr1571Ter)
c.4773C>G (p.Tyr1591Ter)
4g.153636462C>TCA441799849TMEM131Lc.4719C>T (p.Tyr1573=)
c.4050C>T (p.Tyr1350=)
c.4716C>T (p.Tyr1572=)
c.2841C>T (p.Tyr947=)
c.4806C>T (p.Tyr1602=)
c.4803C>T (p.Tyr1601=)
c.4776C>T (p.Tyr1592=)
c.4554C>T (p.Tyr1518=)
c.4713C>T (p.Tyr1571=)
c.4773C>T (p.Tyr1591=)
4g.153636463C>ACA358506653TMEM131Lc.4720C>A (p.Pro1574Thr)
c.4051C>A (p.Pro1351Thr)
c.4717C>A (p.Pro1573Thr)
c.2842C>A (p.Pro948Thr)
c.4807C>A (p.Pro1603Thr)
c.4804C>A (p.Pro1602Thr)
c.4777C>A (p.Pro1593Thr)
c.4555C>A (p.Pro1519Thr)
c.4714C>A (p.Pro1572Thr)
c.4774C>A (p.Pro1592Thr)
4g.153636463C>GCA358506655TMEM131Lc.4720C>G (p.Pro1574Ala)
c.4051C>G (p.Pro1351Ala)
c.4717C>G (p.Pro1573Ala)
c.2842C>G (p.Pro948Ala)
c.4807C>G (p.Pro1603Ala)
c.4804C>G (p.Pro1602Ala)
c.4777C>G (p.Pro1593Ala)
c.4555C>G (p.Pro1519Ala)
c.4714C>G (p.Pro1572Ala)
c.4774C>G (p.Pro1592Ala)
4g.153636463C>TCA358506643TMEM131Lc.4720C>T (p.Pro1574Ser)
c.4051C>T (p.Pro1351Ser)
c.4717C>T (p.Pro1573Ser)
c.2842C>T (p.Pro948Ser)
c.4807C>T (p.Pro1603Ser)
c.4804C>T (p.Pro1602Ser)
c.4777C>T (p.Pro1593Ser)
c.4555C>T (p.Pro1519Ser)
c.4714C>T (p.Pro1572Ser)
c.4774C>T (p.Pro1592Ser)
 gnomAD v4
4g.153636464C>ACA358506660TMEM131Lc.4721C>A (p.Pro1574Gln)
c.4052C>A (p.Pro1351Gln)
c.4718C>A (p.Pro1573Gln)
c.2843C>A (p.Pro948Gln)
c.4808C>A (p.Pro1603Gln)
c.4805C>A (p.Pro1602Gln)
c.4778C>A (p.Pro1593Gln)
c.4556C>A (p.Pro1519Gln)
c.4715C>A (p.Pro1572Gln)
c.4775C>A (p.Pro1592Gln)
4g.153636464C=CA1504512193TMEM131Lc.4721C= (p.Pro1574=)
c.4052C= (p.Pro1351=)
c.4718C= (p.Pro1573=)
c.2843C= (p.Pro948=)
c.4808C= (p.Pro1603=)
c.4805C= (p.Pro1602=)
c.4778C= (p.Pro1593=)
c.4556C= (p.Pro1519=)
c.4715C= (p.Pro1572=)
c.4775C= (p.Pro1592=)
4g.153636464C>GCA358506663TMEM131Lc.4721C>G (p.Pro1574Arg)
c.4052C>G (p.Pro1351Arg)
c.4718C>G (p.Pro1573Arg)
c.2843C>G (p.Pro948Arg)
c.4808C>G (p.Pro1603Arg)
c.4805C>G (p.Pro1602Arg)
c.4778C>G (p.Pro1593Arg)
c.4556C>G (p.Pro1519Arg)
c.4715C>G (p.Pro1572Arg)
c.4775C>G (p.Pro1592Arg)
4g.153636464C>TCA3110602TMEM131Lc.4721C>T (p.Pro1574Leu)
c.4052C>T (p.Pro1351Leu)
c.4718C>T (p.Pro1573Leu)
c.2843C>T (p.Pro948Leu)
c.4808C>T (p.Pro1603Leu)
c.4805C>T (p.Pro1602Leu)
c.4778C>T (p.Pro1593Leu)
c.4556C>T (p.Pro1519Leu)
c.4715C>T (p.Pro1572Leu)
c.4775C>T (p.Pro1592Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636465G>ACA3110603TMEM131Lc.4722G>A (p.Pro1574=)
c.4053G>A (p.Pro1351=)
c.4719G>A (p.Pro1573=)
c.2844G>A (p.Pro948=)
c.4809G>A (p.Pro1603=)
c.4806G>A (p.Pro1602=)
c.4779G>A (p.Pro1593=)
c.4557G>A (p.Pro1519=)
c.4716G>A (p.Pro1572=)
c.4776G>A (p.Pro1592=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.153636465G>CCA441799850TMEM131Lc.4722G>C (p.Pro1574=)
c.4053G>C (p.Pro1351=)
c.4719G>C (p.Pro1573=)
c.2844G>C (p.Pro948=)
c.4809G>C (p.Pro1603=)
c.4806G>C (p.Pro1602=)
c.4779G>C (p.Pro1593=)
c.4557G>C (p.Pro1519=)
c.4716G>C (p.Pro1572=)
c.4776G>C (p.Pro1592=)
4g.153636465G=CA1504512194TMEM131Lc.4722G= (p.Pro1574=)
c.4053G= (p.Pro1351=)
c.4719G= (p.Pro1573=)
c.2844G= (p.Pro948=)
c.4809G= (p.Pro1603=)
c.4806G= (p.Pro1602=)
c.4779G= (p.Pro1593=)
c.4557G= (p.Pro1519=)
c.4716G= (p.Pro1572=)
c.4776G= (p.Pro1592=)
4g.153636465G>TCA441799851TMEM131Lc.4722G>T (p.Pro1574=)
c.4053G>T (p.Pro1351=)
c.4719G>T (p.Pro1573=)
c.2844G>T (p.Pro948=)
c.4809G>T (p.Pro1603=)
c.4806G>T (p.Pro1602=)
c.4779G>T (p.Pro1593=)
c.4557G>T (p.Pro1519=)
c.4716G>T (p.Pro1572=)
c.4776G>T (p.Pro1592=)
4g.153636466G>ACA358506672TMEM131Lc.4723G>A (p.Gly1575Arg)
c.4054G>A (p.Gly1352Arg)
c.4720G>A (p.Gly1574Arg)
c.2845G>A (p.Gly949Arg)
c.4810G>A (p.Gly1604Arg)
c.4807G>A (p.Gly1603Arg)
c.4780G>A (p.Gly1594Arg)
c.4558G>A (p.Gly1520Arg)
c.4717G>A (p.Gly1573Arg)
c.4777G>A (p.Gly1593Arg)
 gnomAD v4
4g.153636466G>CCA358506670TMEM131Lc.4723G>C (p.Gly1575Arg)
c.4054G>C (p.Gly1352Arg)
c.4720G>C (p.Gly1574Arg)
c.2845G>C (p.Gly949Arg)
c.4810G>C (p.Gly1604Arg)
c.4807G>C (p.Gly1603Arg)
c.4780G>C (p.Gly1594Arg)
c.4558G>C (p.Gly1520Arg)
c.4717G>C (p.Gly1573Arg)
c.4777G>C (p.Gly1593Arg)
4g.153636466G>TCA358506675TMEM131Lc.4723G>T (p.Gly1575Trp)
c.4054G>T (p.Gly1352Trp)
c.4720G>T (p.Gly1574Trp)
c.2845G>T (p.Gly949Trp)
c.4810G>T (p.Gly1604Trp)
c.4807G>T (p.Gly1603Trp)
c.4780G>T (p.Gly1594Trp)
c.4558G>T (p.Gly1520Trp)
c.4717G>T (p.Gly1573Trp)
c.4777G>T (p.Gly1593Trp)
4g.153636467G>ACA3110604TMEM131Lc.4724G>A (p.Gly1575Glu)
c.4055G>A (p.Gly1352Glu)
c.4721G>A (p.Gly1574Glu)
c.2846G>A (p.Gly949Glu)
c.4811G>A (p.Gly1604Glu)
c.4808G>A (p.Gly1603Glu)
c.4781G>A (p.Gly1594Glu)
c.4559G>A (p.Gly1520Glu)
c.4718G>A (p.Gly1573Glu)
c.4778G>A (p.Gly1593Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636467G>CCA358506683TMEM131Lc.4724G>C (p.Gly1575Ala)
c.4055G>C (p.Gly1352Ala)
c.4721G>C (p.Gly1574Ala)
c.2846G>C (p.Gly949Ala)
c.4811G>C (p.Gly1604Ala)
c.4808G>C (p.Gly1603Ala)
c.4781G>C (p.Gly1594Ala)
c.4559G>C (p.Gly1520Ala)
c.4718G>C (p.Gly1573Ala)
c.4778G>C (p.Gly1593Ala)
4g.153636467G=CA1504512195TMEM131Lc.4724G= (p.Gly1575=)
c.4055G= (p.Gly1352=)
c.4721G= (p.Gly1574=)
c.2846G= (p.Gly949=)
c.4811G= (p.Gly1604=)
c.4808G= (p.Gly1603=)
c.4781G= (p.Gly1594=)
c.4559G= (p.Gly1520=)
c.4718G= (p.Gly1573=)
c.4778G= (p.Gly1593=)
4g.153636467G>TCA358506679TMEM131Lc.4724G>T (p.Gly1575Val)
c.4055G>T (p.Gly1352Val)
c.4721G>T (p.Gly1574Val)
c.2846G>T (p.Gly949Val)
c.4811G>T (p.Gly1604Val)
c.4808G>T (p.Gly1603Val)
c.4781G>T (p.Gly1594Val)
c.4559G>T (p.Gly1520Val)
c.4718G>T (p.Gly1573Val)
c.4778G>T (p.Gly1593Val)
 dbSNP
4g.153636468G>ACA441799852TMEM131Lc.4725G>A (p.Gly1575=)
c.4056G>A (p.Gly1352=)
c.4722G>A (p.Gly1574=)
c.2847G>A (p.Gly949=)
c.4812G>A (p.Gly1604=)
c.4809G>A (p.Gly1603=)
c.4782G>A (p.Gly1594=)
c.4560G>A (p.Gly1520=)
c.4719G>A (p.Gly1573=)
c.4779G>A (p.Gly1593=)
 dbSNP
4g.153636468G>CCA441799853TMEM131Lc.4725G>C (p.Gly1575=)
c.4056G>C (p.Gly1352=)
c.4722G>C (p.Gly1574=)
c.2847G>C (p.Gly949=)
c.4812G>C (p.Gly1604=)
c.4809G>C (p.Gly1603=)
c.4782G>C (p.Gly1594=)
c.4560G>C (p.Gly1520=)
c.4719G>C (p.Gly1573=)
c.4779G>C (p.Gly1593=)
4g.153636468G=CA1504512196TMEM131Lc.4725G= (p.Gly1575=)
c.4056G= (p.Gly1352=)
c.4722G= (p.Gly1574=)
c.2847G= (p.Gly949=)
c.4812G= (p.Gly1604=)
c.4809G= (p.Gly1603=)
c.4782G= (p.Gly1594=)
c.4560G= (p.Gly1520=)
c.4719G= (p.Gly1573=)
c.4779G= (p.Gly1593=)
4g.153636468G>TCA441799854TMEM131Lc.4725G>T (p.Gly1575=)
c.4056G>T (p.Gly1352=)
c.4722G>T (p.Gly1574=)
c.2847G>T (p.Gly949=)
c.4812G>T (p.Gly1604=)
c.4809G>T (p.Gly1603=)
c.4782G>T (p.Gly1594=)
c.4560G>T (p.Gly1520=)
c.4719G>T (p.Gly1573=)
c.4779G>T (p.Gly1593=)
4g.153636469T>ACA358506685TMEM131Lc.4726T>A (p.Phe1576Ile)
c.4057T>A (p.Phe1353Ile)
c.4723T>A (p.Phe1575Ile)
c.2848T>A (p.Phe950Ile)
c.4813T>A (p.Phe1605Ile)
c.4810T>A (p.Phe1604Ile)
c.4783T>A (p.Phe1595Ile)
c.4561T>A (p.Phe1521Ile)
c.4720T>A (p.Phe1574Ile)
c.4780T>A (p.Phe1594Ile)
4g.153636469T>CCA358506701TMEM131Lc.4726T>C (p.Phe1576Leu)
c.4057T>C (p.Phe1353Leu)
c.4723T>C (p.Phe1575Leu)
c.2848T>C (p.Phe950Leu)
c.4813T>C (p.Phe1605Leu)
c.4810T>C (p.Phe1604Leu)
c.4783T>C (p.Phe1595Leu)
c.4561T>C (p.Phe1521Leu)
c.4720T>C (p.Phe1574Leu)
c.4780T>C (p.Phe1594Leu)
4g.153636469T>GCA358506698TMEM131Lc.4726T>G (p.Phe1576Val)
c.4057T>G (p.Phe1353Val)
c.4723T>G (p.Phe1575Val)
c.2848T>G (p.Phe950Val)
c.4813T>G (p.Phe1605Val)
c.4810T>G (p.Phe1604Val)
c.4783T>G (p.Phe1595Val)
c.4561T>G (p.Phe1521Val)
c.4720T>G (p.Phe1574Val)
c.4780T>G (p.Phe1594Val)
4g.153636470T>ACA358506703TMEM131Lc.4727T>A (p.Phe1576Tyr)
c.4058T>A (p.Phe1353Tyr)
c.4724T>A (p.Phe1575Tyr)
c.2849T>A (p.Phe950Tyr)
c.4814T>A (p.Phe1605Tyr)
c.4811T>A (p.Phe1604Tyr)
c.4784T>A (p.Phe1595Tyr)
c.4562T>A (p.Phe1521Tyr)
c.4721T>A (p.Phe1574Tyr)
c.4781T>A (p.Phe1594Tyr)
4g.153636470T>CCA358506707TMEM131Lc.4727T>C (p.Phe1576Ser)
c.4058T>C (p.Phe1353Ser)
c.4724T>C (p.Phe1575Ser)
c.2849T>C (p.Phe950Ser)
c.4814T>C (p.Phe1605Ser)
c.4811T>C (p.Phe1604Ser)
c.4784T>C (p.Phe1595Ser)
c.4562T>C (p.Phe1521Ser)
c.4721T>C (p.Phe1574Ser)
c.4781T>C (p.Phe1594Ser)
4g.153636470T>GCA358506704TMEM131Lc.4727T>G (p.Phe1576Cys)
c.4058T>G (p.Phe1353Cys)
c.4724T>G (p.Phe1575Cys)
c.2849T>G (p.Phe950Cys)
c.4814T>G (p.Phe1605Cys)
c.4811T>G (p.Phe1604Cys)
c.4784T>G (p.Phe1595Cys)
c.4562T>G (p.Phe1521Cys)
c.4721T>G (p.Phe1574Cys)
c.4781T>G (p.Phe1594Cys)
4g.153636470_153636471delinsTCCA1504512197TMEM131Lc.4727_4728delinsTC (p.Phe1576=)
c.4058_4059delinsTC (p.Phe1353=)
c.4724_4725delinsTC (p.Phe1575=)
c.2849_2850delinsTC (p.Phe950=)
c.4814_4815delinsTC (p.Phe1605=)
c.4811_4812delinsTC (p.Phe1604=)
c.4784_4785delinsTC (p.Phe1595=)
c.4562_4563delinsTC (p.Phe1521=)
c.4721_4722delinsTC (p.Phe1574=)
c.4781_4782delinsTC (p.Phe1594=)
4g.153636471delCA3110605TMEM131Lc.4728del (p.Phe1576LeufsTer8)
c.4059del (p.Phe1353LeufsTer8)
c.4725del (p.Phe1575LeufsTer8)
c.2850del (p.Phe950LeufsTer8)
c.4815del (p.Phe1605LeufsTer8)
c.4812del (p.Phe1604LeufsTer8)
c.4785del (p.Phe1595LeufsTer8)
c.4563del (p.Phe1521LeufsTer8)
c.4722del (p.Phe1574LeufsTer8)
c.4782del (p.Phe1594LeufsTer8)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636471C>ACA358506711TMEM131Lc.4728C>A (p.Phe1576Leu)
c.4059C>A (p.Phe1353Leu)
c.4725C>A (p.Phe1575Leu)
c.2850C>A (p.Phe950Leu)
c.4815C>A (p.Phe1605Leu)
c.4812C>A (p.Phe1604Leu)
c.4785C>A (p.Phe1595Leu)
c.4563C>A (p.Phe1521Leu)
c.4722C>A (p.Phe1574Leu)
c.4782C>A (p.Phe1594Leu)
4g.153636471C=CA1504512198TMEM131Lc.4728C= (p.Phe1576=)
c.4059C= (p.Phe1353=)
c.4725C= (p.Phe1575=)
c.2850C= (p.Phe950=)
c.4815C= (p.Phe1605=)
c.4812C= (p.Phe1604=)
c.4785C= (p.Phe1595=)
c.4563C= (p.Phe1521=)
c.4722C= (p.Phe1574=)
c.4782C= (p.Phe1594=)
4g.153636471C>GCA358506715TMEM131Lc.4728C>G (p.Phe1576Leu)
c.4059C>G (p.Phe1353Leu)
c.4725C>G (p.Phe1575Leu)
c.2850C>G (p.Phe950Leu)
c.4815C>G (p.Phe1605Leu)
c.4812C>G (p.Phe1604Leu)
c.4785C>G (p.Phe1595Leu)
c.4563C>G (p.Phe1521Leu)
c.4722C>G (p.Phe1574Leu)
c.4782C>G (p.Phe1594Leu)
4g.153636471C>TCA3110606TMEM131Lc.4728C>T (p.Phe1576=)
c.4059C>T (p.Phe1353=)
c.4725C>T (p.Phe1575=)
c.2850C>T (p.Phe950=)
c.4815C>T (p.Phe1605=)
c.4812C>T (p.Phe1604=)
c.4785C>T (p.Phe1595=)
c.4563C>T (p.Phe1521=)
c.4722C>T (p.Phe1574=)
c.4782C>T (p.Phe1594=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.153636472A=CA1504512199TMEM131Lc.4729A= (p.Asn1577=)
c.4060A= (p.Asn1354=)
c.4726A= (p.Asn1576=)
c.2851A= (p.Asn951=)
c.4816A= (p.Asn1606=)
c.4813A= (p.Asn1605=)
c.4786A= (p.Asn1596=)
c.4564A= (p.Asn1522=)
c.4723A= (p.Asn1575=)
c.4783A= (p.Asn1595=)
4g.153636472A>CCA358506722TMEM131Lc.4729A>C (p.Asn1577His)
c.4060A>C (p.Asn1354His)
c.4726A>C (p.Asn1576His)
c.2851A>C (p.Asn951His)
c.4816A>C (p.Asn1606His)
c.4813A>C (p.Asn1605His)
c.4786A>C (p.Asn1596His)
c.4564A>C (p.Asn1522His)
c.4723A>C (p.Asn1575His)
c.4783A>C (p.Asn1595His)
4g.153636472A>GCA3110607TMEM131Lc.4729A>G (p.Asn1577Asp)
c.4060A>G (p.Asn1354Asp)
c.4726A>G (p.Asn1576Asp)
c.2851A>G (p.Asn951Asp)
c.4816A>G (p.Asn1606Asp)
c.4813A>G (p.Asn1605Asp)
c.4786A>G (p.Asn1596Asp)
c.4564A>G (p.Asn1522Asp)
c.4723A>G (p.Asn1575Asp)
c.4783A>G (p.Asn1595Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.153636472A>TCA358506725TMEM131Lc.4729A>T (p.Asn1577Tyr)
c.4060A>T (p.Asn1354Tyr)
c.4726A>T (p.Asn1576Tyr)
c.2851A>T (p.Asn951Tyr)
c.4816A>T (p.Asn1606Tyr)
c.4813A>T (p.Asn1605Tyr)
c.4786A>T (p.Asn1596Tyr)
c.4564A>T (p.Asn1522Tyr)
c.4723A>T (p.Asn1575Tyr)
c.4783A>T (p.Asn1595Tyr)
4g.153636473A>CCA358506730TMEM131Lc.4730A>C (p.Asn1577Thr)
c.4061A>C (p.Asn1354Thr)
c.4727A>C (p.Asn1576Thr)
c.2852A>C (p.Asn951Thr)
c.4817A>C (p.Asn1606Thr)
c.4814A>C (p.Asn1605Thr)
c.4787A>C (p.Asn1596Thr)
c.4565A>C (p.Asn1522Thr)
c.4724A>C (p.Asn1575Thr)
c.4784A>C (p.Asn1595Thr)
4g.153636473A>GCA358506735TMEM131Lc.4730A>G (p.Asn1577Ser)
c.4061A>G (p.Asn1354Ser)
c.4727A>G (p.Asn1576Ser)
c.2852A>G (p.Asn951Ser)
c.4817A>G (p.Asn1606Ser)
c.4814A>G (p.Asn1605Ser)
c.4787A>G (p.Asn1596Ser)
c.4565A>G (p.Asn1522Ser)
c.4724A>G (p.Asn1575Ser)
c.4784A>G (p.Asn1595Ser)
4g.153636473A>TCA358506737TMEM131Lc.4730A>T (p.Asn1577Ile)
c.4061A>T (p.Asn1354Ile)
c.4727A>T (p.Asn1576Ile)
c.2852A>T (p.Asn951Ile)
c.4817A>T (p.Asn1606Ile)
c.4814A>T (p.Asn1605Ile)
c.4787A>T (p.Asn1596Ile)
c.4565A>T (p.Asn1522Ile)
c.4724A>T (p.Asn1575Ile)
c.4784A>T (p.Asn1595Ile)
4g.153636474C>ACA358506740TMEM131Lc.4731C>A (p.Asn1577Lys)
c.4062C>A (p.Asn1354Lys)
c.4728C>A (p.Asn1576Lys)
c.2853C>A (p.Asn951Lys)
c.4818C>A (p.Asn1606Lys)
c.4815C>A (p.Asn1605Lys)
c.4788C>A (p.Asn1596Lys)
c.4566C>A (p.Asn1522Lys)
c.4725C>A (p.Asn1575Lys)
c.4785C>A (p.Asn1595Lys)
4g.153636474C>GCA358506743TMEM131Lc.4731C>G (p.Asn1577Lys)
c.4062C>G (p.Asn1354Lys)
c.4728C>G (p.Asn1576Lys)
c.2853C>G (p.Asn951Lys)
c.4818C>G (p.Asn1606Lys)
c.4815C>G (p.Asn1605Lys)
c.4788C>G (p.Asn1596Lys)
c.4566C>G (p.Asn1522Lys)
c.4725C>G (p.Asn1575Lys)
c.4785C>G (p.Asn1595Lys)
4g.153636474C>TCA441799855TMEM131Lc.4731C>T (p.Asn1577=)
c.4062C>T (p.Asn1354=)
c.4728C>T (p.Asn1576=)
c.2853C>T (p.Asn951=)
c.4818C>T (p.Asn1606=)
c.4815C>T (p.Asn1605=)
c.4788C>T (p.Asn1596=)
c.4566C>T (p.Asn1522=)
c.4725C>T (p.Asn1575=)
c.4785C>T (p.Asn1595=)
 dbSNP gnomAD v4
4g.153636476dupCA2672416033TMEM131Lc.4733dup (p.Phe1579ValfsTer16)
c.4064dup (p.Phe1356ValfsTer16)
c.4730dup (p.Phe1578ValfsTer16)
c.2855dup (p.Phe953ValfsTer16)
c.4820dup (p.Phe1608ValfsTer16)
c.4817dup (p.Phe1607ValfsTer16)
c.4790dup (p.Phe1598ValfsTer16)
c.4568dup (p.Phe1524ValfsTer16)
c.4727dup (p.Phe1577ValfsTer16)
c.4787dup (p.Phe1597ValfsTer16)
 gnomAD v4
4g.153636475C>ACA358506747TMEM131Lc.4732C>A (p.Pro1578Thr)
c.4063C>A (p.Pro1355Thr)
c.4729C>A (p.Pro1577Thr)
c.2854C>A (p.Pro952Thr)
c.4819C>A (p.Pro1607Thr)
c.4816C>A (p.Pro1606Thr)
c.4789C>A (p.Pro1597Thr)
c.4567C>A (p.Pro1523Thr)
c.4726C>A (p.Pro1576Thr)
c.4786C>A (p.Pro1596Thr)
4g.153636475C>GCA358506751TMEM131Lc.4732C>G (p.Pro1578Ala)
c.4063C>G (p.Pro1355Ala)
c.4729C>G (p.Pro1577Ala)
c.2854C>G (p.Pro952Ala)
c.4819C>G (p.Pro1607Ala)
c.4816C>G (p.Pro1606Ala)
c.4789C>G (p.Pro1597Ala)
c.4567C>G (p.Pro1523Ala)
c.4726C>G (p.Pro1576Ala)
c.4786C>G (p.Pro1596Ala)
4g.153636475C>TCA358506748TMEM131Lc.4732C>T (p.Pro1578Ser)
c.4063C>T (p.Pro1355Ser)
c.4729C>T (p.Pro1577Ser)
c.2854C>T (p.Pro952Ser)
c.4819C>T (p.Pro1607Ser)
c.4816C>T (p.Pro1606Ser)
c.4789C>T (p.Pro1597Ser)
c.4567C>T (p.Pro1523Ser)
c.4726C>T (p.Pro1576Ser)
c.4786C>T (p.Pro1596Ser)

Number of alleles fetched