Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.21573518_21573686delCA2580061452ALPLc.863-147_884del
c.73-2215_73-2047del
c.632-147_653del
c.698-147_719del
c.707-147_728del
 ClinVar
1g.21573612_21573670delCA2594140248ALPLc.863-53_868del
c.73-2121_73-2063del
c.632-53_637del
c.698-53_703del
c.707-53_712del
 gnomAD v3 gnomAD v4
1g.21573632_21573633delCA666655ALPLc.863-33_863-32del (n.863-33_863-32del)
c.73-2101_73-2100del
c.632-33_632-32del (n.632-33_632-32del)
c.698-33_698-32del (n.698-33_698-32del)
c.707-33_707-32del (n.707-33_707-32del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573633C>ACA2501398492ALPLc.863-32C>A (n.863-32C>A)
c.73-2100C>A
c.632-32C>A (n.632-32C>A)
c.698-32C>A (n.698-32C>A)
c.707-32C>A (n.707-32C>A)
1g.21573635G>ACA731322510ALPLc.863-30G>A (n.863-30G>A)
c.73-2098G>A
c.632-30G>A (n.632-30G>A)
c.698-30G>A (n.698-30G>A)
c.707-30G>A (n.707-30G>A)
 dbSNP
1g.21573635G>CCA1158018303ALPLc.863-30G>C (n.863-30G>C)
c.73-2098G>C
c.632-30G>C (n.632-30G>C)
c.698-30G>C (n.698-30G>C)
c.707-30G>C (n.707-30G>C)
 dbSNP
1g.21573635G=CA1158018302ALPLc.863-30G= (n.863-30G=)
c.73-2098G=
c.632-30G= (n.632-30G=)
c.698-30G= (n.698-30G=)
c.707-30G= (n.707-30G=)
1g.21573637A>CCA2643930954ALPLc.863-28A>C (n.863-28A>C)
c.73-2096A>C
c.632-28A>C (n.632-28A>C)
c.698-28A>C (n.698-28A>C)
c.707-28A>C (n.707-28A>C)
 gnomAD v4
1g.21573638T>ACA2643930955ALPLc.863-27T>A (n.863-27T>A)
c.73-2095T>A
c.632-27T>A (n.632-27T>A)
c.698-27T>A (n.698-27T>A)
c.707-27T>A (n.707-27T>A)
 gnomAD v4
1g.21573640C>GCA2643930956ALPLc.863-25C>G (n.863-25C>G)
c.73-2093C>G
c.632-25C>G (n.632-25C>G)
c.698-25C>G (n.698-25C>G)
c.707-25C>G (n.707-25C>G)
 gnomAD v4
1g.21573640C>TCA2643930957ALPLc.863-25C>T (n.863-25C>T)
c.73-2093C>T
c.632-25C>T (n.632-25C>T)
c.698-25C>T (n.698-25C>T)
c.707-25C>T (n.707-25C>T)
 gnomAD v4
1g.21573642C>TCA2742754132ALPLc.863-23C>T (n.863-23C>T)
c.73-2091C>T
c.632-23C>T (n.632-23C>T)
c.698-23C>T (n.698-23C>T)
c.707-23C>T (n.707-23C>T)
1g.21573643_21573653delCA2740090515ALPLc.863-22_863-12del (n.863-22_863-12del)
c.73-2090_73-2080del
c.632-22_632-12del (n.632-22_632-12del)
c.698-22_698-12del (n.698-22_698-12del)
c.707-22_707-12del (n.707-22_707-12del)
 ClinVar
1g.21573643A=CA1158018304ALPLc.863-22A= (n.863-22A=)
c.73-2090A=
c.632-22A= (n.632-22A=)
c.698-22A= (n.698-22A=)
c.707-22A= (n.707-22A=)
1g.21573643A>GCA521577929ALPLc.863-22A>G (n.863-22A>G)
c.73-2090A>G
c.632-22A>G (n.632-22A>G)
c.698-22A>G (n.698-22A>G)
c.707-22A>G (n.707-22A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573645C>ACA2643930958ALPLc.863-20C>A (n.863-20C>A)
c.73-2088C>A
c.632-20C>A (n.632-20C>A)
c.698-20C>A (n.698-20C>A)
c.707-20C>A (n.707-20C>A)
 gnomAD v4
1g.21573645C=CA1143626712ALPLc.863-20C= (n.863-20C=)
c.73-2088C=
c.632-20C= (n.632-20C=)
c.698-20C= (n.698-20C=)
c.707-20C= (n.707-20C=)
1g.21573645C>TCA666657ALPLc.863-20C>T (n.863-20C>T)
c.73-2088C>T
c.632-20C>T (n.632-20C>T)
c.698-20C>T (n.698-20C>T)
c.707-20C>T (n.707-20C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573646C=CA1144192802ALPLc.863-19C= (n.863-19C=)
c.73-2087C=
c.632-19C= (n.632-19C=)
c.698-19C= (n.698-19C=)
c.707-19C= (n.707-19C=)
1g.21573646C>TCA666658ALPLc.863-19C>T (n.863-19C>T)
c.73-2087C>T
c.632-19C>T (n.632-19C>T)
c.698-19C>T (n.698-19C>T)
c.707-19C>T (n.707-19C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573648C>TCA2739272346ALPLc.863-17C>T (n.863-17C>T)
c.73-2085C>T
c.632-17C>T (n.632-17C>T)
c.698-17C>T (n.698-17C>T)
c.707-17C>T (n.707-17C>T)
 ClinVar
1g.21573650T>ACA10586723ALPLc.863-15T>A (n.863-15T>A)
c.73-2083T>A
c.632-15T>A (n.632-15T>A)
c.698-15T>A (n.698-15T>A)
c.707-15T>A (n.707-15T>A)
 ClinVar dbSNP
1g.21573650T>CCA19067939ALPLc.863-15T>C (n.863-15T>C)
c.73-2083T>C
c.632-15T>C (n.632-15T>C)
c.698-15T>C (n.698-15T>C)
c.707-15T>C (n.707-15T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573650T=CA1143963639ALPLc.863-15T= (n.863-15T=)
c.73-2083T=
c.632-15T= (n.632-15T=)
c.698-15T= (n.698-15T=)
c.707-15T= (n.707-15T=)
1g.21573652G>ACA2574252888ALPLc.863-13G>A (n.863-13G>A)
c.73-2081G>A
c.632-13G>A (n.632-13G>A)
c.698-13G>A (n.698-13G>A)
c.707-13G>A (n.707-13G>A)
1g.21573652G=CA1158018305ALPLc.863-13G= (n.863-13G=)
c.73-2081G=
c.632-13G= (n.632-13G=)
c.698-13G= (n.698-13G=)
c.707-13G= (n.707-13G=)
1g.21573652G>TCA666659ALPLc.863-13G>T (n.863-13G>T)
c.73-2081G>T
c.632-13G>T (n.632-13G>T)
c.698-13G>T (n.698-13G>T)
c.707-13G>T (n.707-13G>T)
 dbSNP ExAC
1g.21573652_21573653insGGTCA999409671ALPLc.863-13_863-12insGGT (n.863-13_863-12insGGT)
c.73-2081_73-2080insGGT
c.632-13_632-12insGGT (n.632-13_632-12insGGT)
c.698-13_698-12insGGT (n.698-13_698-12insGGT)
c.707-13_707-12insGGT (n.707-13_707-12insGGT)
 dbSNP gnomAD v3 gnomAD v4
1g.21573652_21573653insGGTCCCCCA1158018306ALPLc.863-13_863-12insGGTCCCC (n.863-13_863-12insGGTCCCC)
c.73-2081_73-2080insGGTCCCC
c.632-13_632-12insGGTCCCC (n.632-13_632-12insGGTCCCC)
c.698-13_698-12insGGTCCCC (n.698-13_698-12insGGTCCCC)
c.707-13_707-12insGGTCCCC (n.707-13_707-12insGGTCCCC)
 ClinVar dbSNP
1g.21573653C>ACA2581649601ALPLc.863-12C>A (n.863-12C>A)
c.73-2080C>A
c.632-12C>A (n.632-12C>A)
c.698-12C>A (n.698-12C>A)
c.707-12C>A (n.707-12C>A)
 gnomAD v4
1g.21573653C=CA1140961937ALPLc.863-12C= (n.863-12C=)
c.73-2080C=
c.632-12C= (n.632-12C=)
c.698-12C= (n.698-12C=)
c.707-12C= (n.707-12C=)
1g.21573653C>GCA666660ALPLc.863-12C>G (n.863-12C>G)
c.73-2080C>G
c.632-12C>G (n.632-12C>G)
c.698-12C>G (n.698-12C>G)
c.707-12C>G (n.707-12C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573653C>TCA521577930ALPLc.863-12C>T (n.863-12C>T)
c.73-2080C>T
c.632-12C>T (n.632-12C>T)
c.698-12C>T (n.698-12C>T)
c.707-12C>T (n.707-12C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21573653_21573654insCCCGCA999409684ALPLc.863-12_863-11insCCCG (n.863-12_863-11insCCCG)
c.73-2080_73-2079insCCCG
c.632-12_632-11insCCCG (n.632-12_632-11insCCCG)
c.698-12_698-11insCCCG (n.698-12_698-11insCCCG)
c.707-12_707-11insCCCG (n.707-12_707-11insCCCG)
 dbSNP gnomAD v3 gnomAD v4
1g.21573654G>ACA666661ALPLc.863-11G>A (n.863-11G>A)
c.73-2079G>A
c.632-11G>A (n.632-11G>A)
c.698-11G>A (n.698-11G>A)
c.707-11G>A (n.707-11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573654G=CA1158018307ALPLc.863-11G= (n.863-11G=)
c.73-2079G=
c.632-11G= (n.632-11G=)
c.698-11G= (n.698-11G=)
c.707-11G= (n.707-11G=)
1g.21573654G>TCA2643930959ALPLc.863-11G>T (n.863-11G>T)
c.73-2079G>T
c.632-11G>T (n.632-11G>T)
c.698-11G>T (n.698-11G>T)
c.707-11G>T (n.707-11G>T)
 ClinVar gnomAD v4
1g.21573654_21573657delinsGTCCCA1158018308ALPLc.863-11_863-8delinsGTCC (n.863-11_863-8delinsGTCC)
c.73-2079_73-2076delinsGTCC
c.632-11_632-8delinsGTCC (n.632-11_632-8delinsGTCC)
c.698-11_698-8delinsGTCC (n.698-11_698-8delinsGTCC)
c.707-11_707-8delinsGTCC (n.707-11_707-8delinsGTCC)
1g.21573655T>CCA2643930961ALPLc.863-10T>C (n.863-10T>C)
c.73-2078T>C
c.632-10T>C (n.632-10T>C)
c.698-10T>C (n.698-10T>C)
c.707-10T>C (n.707-10T>C)
 gnomAD v4
1g.21573655T>GCA2695501596ALPLc.863-10T>G (n.863-10T>G)
c.73-2078T>G
c.632-10T>G (n.632-10T>G)
c.698-10T>G (n.698-10T>G)
c.707-10T>G (n.707-10T>G)
 dbSNP
1g.21573660_21573662delCA999409686ALPLc.863-5_863-3del (n.863-5_863-3del)
c.73-2073_73-2071del
c.632-5_632-3del (n.632-5_632-3del)
c.698-5_698-3del (n.698-5_698-3del)
c.707-5_707-3del (n.707-5_707-3del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.21573656C=CA1158018309ALPLc.863-9C= (n.863-9C=)
c.73-2077C=
c.632-9C= (n.632-9C=)
c.698-9C= (n.698-9C=)
c.707-9C= (n.707-9C=)
1g.21573656C>TCA666662ALPLc.863-9C>T (n.863-9C>T)
c.73-2077C>T
c.632-9C>T (n.632-9C>T)
c.698-9C>T (n.698-9C>T)
c.707-9C>T (n.707-9C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573657C=CA1158018310ALPLc.863-8C= (n.863-8C=)
c.73-2076C=
c.632-8C= (n.632-8C=)
c.698-8C= (n.698-8C=)
c.707-8C= (n.707-8C=)
1g.21573657C>TCA666663ALPLc.863-8C>T (n.863-8C>T)
c.73-2076C>T
c.632-8C>T (n.632-8C>T)
c.698-8C>T (n.698-8C>T)
c.707-8C>T (n.707-8C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573658T>ACA2581649602ALPLc.863-7T>A (n.863-7T>A)
c.73-2075T>A
c.632-7T>A (n.632-7T>A)
c.698-7T>A (n.698-7T>A)
c.707-7T>A (n.707-7T>A)
1g.21573658T>CCA666664ALPLc.863-7T>C (n.863-7T>C)
c.73-2075T>C
c.632-7T>C (n.632-7T>C)
c.698-7T>C (n.698-7T>C)
c.707-7T>C (n.707-7T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573658T>GCA1158018311ALPLc.863-7T>G (n.863-7T>G)
c.73-2075T>G
c.632-7T>G (n.632-7T>G)
c.698-7T>G (n.698-7T>G)
c.707-7T>G (n.707-7T>G)
 dbSNP
1g.21573658T=CA1140862468ALPLc.863-7T= (n.863-7T=)
c.73-2075T=
c.632-7T= (n.632-7T=)
c.698-7T= (n.698-7T=)
c.707-7T= (n.707-7T=)
1g.21573659C=CA1158018312ALPLc.863-6C= (n.863-6C=)
c.73-2074C=
c.632-6C= (n.632-6C=)
c.698-6C= (n.698-6C=)
c.707-6C= (n.707-6C=)
1g.21573659C>TCA1158018313ALPLc.863-6C>T (n.863-6C>T)
c.73-2074C>T
c.632-6C>T (n.632-6C>T)
c.698-6C>T (n.698-6C>T)
c.707-6C>T (n.707-6C>T)
 ClinVar dbSNP gnomAD v4
1g.21573660C=CA1158018314ALPLc.863-5C= (n.863-5C=)
c.73-2073C=
c.632-5C= (n.632-5C=)
c.698-5C= (n.698-5C=)
c.707-5C= (n.707-5C=)
1g.21573660C>TCA521577931ALPLc.863-5C>T (n.863-5C>T)
c.73-2073C>T
c.632-5C>T (n.632-5C>T)
c.698-5C>T (n.698-5C>T)
c.707-5C>T (n.707-5C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21573662C=CA1158018315ALPLc.863-3C= (n.863-3C=)
c.73-2071C=
c.632-3C= (n.632-3C=)
c.698-3C= (n.698-3C=)
c.707-3C= (n.707-3C=)
1g.21573662C>TCA666665ALPLc.863-3C>T (n.863-3C>T)
c.73-2071C>T
c.632-3C>T (n.632-3C>T)
c.698-3C>T (n.698-3C>T)
c.707-3C>T (n.707-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573663A=CA1158018316ALPLc.863-2A= (n.863-2A=)
c.73-2070A=
c.632-2A= (n.632-2A=)
c.698-2A= (n.698-2A=)
c.707-2A= (n.707-2A=)
1g.21573663A>CCA338880154ALPLc.863-2A>C (n.863-2A>C)
c.73-2070A>C
c.632-2A>C (n.632-2A>C)
c.698-2A>C (n.698-2A>C)
c.707-2A>C (n.707-2A>C)
 dbSNP
1g.21573663A>GCA338880155ALPLc.863-2A>G (n.863-2A>G)
c.73-2070A>G
c.632-2A>G (n.632-2A>G)
c.698-2A>G (n.698-2A>G)
c.707-2A>G (n.707-2A>G)
1g.21573663A>TCA338880156ALPLc.863-2A>T (n.863-2A>T)
c.73-2070A>T
c.632-2A>T (n.632-2A>T)
c.698-2A>T (n.698-2A>T)
c.707-2A>T (n.707-2A>T)
 gnomAD v4
1g.21573664G>ACA338880159ALPLc.863-1G>A (n.863-1G>A)
c.73-2069G>A
c.632-1G>A (n.632-1G>A)
c.698-1G>A (n.698-1G>A)
c.707-1G>A (n.707-1G>A)
 dbSNP
1g.21573664G>CCA338880158ALPLc.863-1G>C (n.863-1G>C)
c.73-2069G>C
c.632-1G>C (n.632-1G>C)
c.698-1G>C (n.698-1G>C)
c.707-1G>C (n.707-1G>C)
 COSMIC
1g.21573664G=CA1158018317ALPLc.863-1G= (n.863-1G=)
c.73-2069G=
c.632-1G= (n.632-1G=)
c.698-1G= (n.698-1G=)
c.707-1G= (n.707-1G=)
1g.21573664G>TCA338880157ALPLc.863-1G>T (n.863-1G>T)
c.73-2069G>T
c.632-1G>T (n.632-1G>T)
c.698-1G>T (n.698-1G>T)
c.707-1G>T (n.707-1G>T)
 dbSNP COSMIC
1g.21573665G>ACA338880160ALPLc.863G>A (p.Gly288Asp)
c.73-2068G>A
c.632G>A (p.Gly211Asp)
c.698G>A (p.Gly233Asp)
c.707G>A (p.Gly236Asp)
 ClinVar dbSNP
1g.21573665G>CCA338880161ALPLc.863G>C (p.Gly288Ala)
c.73-2068G>C
c.632G>C (p.Gly211Ala)
c.698G>C (p.Gly233Ala)
c.707G>C (p.Gly236Ala)
1g.21573665G>TCA338880162ALPLc.863G>T (p.Gly288Val)
c.73-2068G>T
c.632G>T (p.Gly211Val)
c.698G>T (p.Gly233Val)
c.707G>T (p.Gly236Val)
1g.21573666T>ACA416532278ALPLc.864T>A (p.Gly288=)
c.73-2067T>A
c.633T>A (p.Gly211=)
c.699T>A (p.Gly233=)
c.708T>A (p.Gly236=)
1g.21573666T>CCA666666ALPLc.864T>C (p.Gly288=)
c.73-2067T>C
c.633T>C (p.Gly211=)
c.699T>C (p.Gly233=)
c.708T>C (p.Gly236=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573666T>GCA416532280ALPLc.864T>G (p.Gly288=)
c.73-2067T>G
c.633T>G (p.Gly211=)
c.699T>G (p.Gly233=)
c.708T>G (p.Gly236=)
1g.21573666T=CA1158018318ALPLc.864T= (p.Gly288=)
c.73-2067T=
c.633T= (p.Gly211=)
c.699T= (p.Gly233=)
c.708T= (p.Gly236=)
1g.21573667C>ACA338880163ALPLc.865C>A (p.Leu289Ile)
c.73-2066C>A
c.634C>A (p.Leu212Ile)
c.700C>A (p.Leu234Ile)
c.709C>A (p.Leu237Ile)
1g.21573667C>GCA338880164ALPLc.865C>G (p.Leu289Val)
c.73-2066C>G
c.634C>G (p.Leu212Val)
c.700C>G (p.Leu234Val)
c.709C>G (p.Leu237Val)
1g.21573667C>TCA338880165ALPLc.865C>T (p.Leu289Phe)
c.73-2066C>T
c.634C>T (p.Leu212Phe)
c.700C>T (p.Leu234Phe)
c.709C>T (p.Leu237Phe)
 gnomAD v4
1g.21573668_21573688delCA2643930962ALPLc.866_886del (p.Leu289_Met295del)
c.73-2065_73-2045del
c.635_655del (p.Leu212_Met218del)
c.701_721del (p.Leu234_Met240del)
c.710_730del (p.Leu237_Met243del)
 gnomAD v4
1g.21573668T>ACA338880166ALPLc.866T>A (p.Leu289His)
c.73-2065T>A
c.635T>A (p.Leu212His)
c.701T>A (p.Leu234His)
c.710T>A (p.Leu237His)
1g.21573668T>CCA338880167ALPLc.866T>C (p.Leu289Pro)
c.73-2065T>C
c.635T>C (p.Leu212Pro)
c.701T>C (p.Leu234Pro)
c.710T>C (p.Leu237Pro)
1g.21573668T>GCA338880168ALPLc.866T>G (p.Leu289Arg)
c.73-2065T>G
c.635T>G (p.Leu212Arg)
c.701T>G (p.Leu234Arg)
c.710T>G (p.Leu237Arg)
1g.21573669C>ACA416532297ALPLc.867C>A (p.Leu289=)
c.73-2064C>A
c.636C>A (p.Leu212=)
c.702C>A (p.Leu234=)
c.711C>A (p.Leu237=)
1g.21573669C>GCA416532301ALPLc.867C>G (p.Leu289=)
c.73-2064C>G
c.636C>G (p.Leu212=)
c.702C>G (p.Leu234=)
c.711C>G (p.Leu237=)
1g.21573669C>TCA416532299ALPLc.867C>T (p.Leu289=)
c.73-2064C>T
c.636C>T (p.Leu212=)
c.702C>T (p.Leu234=)
c.711C>T (p.Leu237=)
 ClinVar gnomAD v4
1g.21573670T>ACA338880169ALPLc.868T>A (p.Phe290Ile)
c.73-2063T>A
c.637T>A (p.Phe213Ile)
c.703T>A (p.Phe235Ile)
c.712T>A (p.Phe238Ile)
1g.21573670T>CCA338880170ALPLc.868T>C (p.Phe290Leu)
c.73-2063T>C
c.637T>C (p.Phe213Leu)
c.703T>C (p.Phe235Leu)
c.712T>C (p.Phe238Leu)
1g.21573670T>GCA338880171ALPLc.868T>G (p.Phe290Val)
c.73-2063T>G
c.637T>G (p.Phe213Val)
c.703T>G (p.Phe235Val)
c.712T>G (p.Phe238Val)
1g.21573671T>ACA338880174ALPLc.869T>A (p.Phe290Tyr)
c.73-2062T>A
c.638T>A (p.Phe213Tyr)
c.704T>A (p.Phe235Tyr)
c.713T>A (p.Phe238Tyr)
1g.21573671T>CCA338880172ALPLc.869T>C (p.Phe290Ser)
c.73-2062T>C
c.638T>C (p.Phe213Ser)
c.704T>C (p.Phe235Ser)
c.713T>C (p.Phe238Ser)
1g.21573671T>GCA338880173ALPLc.869T>G (p.Phe290Cys)
c.73-2062T>G
c.638T>G (p.Phe213Cys)
c.704T>G (p.Phe235Cys)
c.713T>G (p.Phe238Cys)
1g.21573672C>ACA338880175ALPLc.870C>A (p.Phe290Leu)
c.73-2061C>A
c.639C>A (p.Phe213Leu)
c.705C>A (p.Phe235Leu)
c.714C>A (p.Phe238Leu)
1g.21573672C=CA1158018319ALPLc.870C= (p.Phe290=)
c.73-2061C=
c.639C= (p.Phe213=)
c.705C= (p.Phe235=)
c.714C= (p.Phe238=)
1g.21573672C>GCA338880176ALPLc.870C>G (p.Phe290Leu)
c.73-2061C>G
c.639C>G (p.Phe213Leu)
c.705C>G (p.Phe235Leu)
c.714C>G (p.Phe238Leu)
1g.21573672C>TCA666667ALPLc.870C>T (p.Phe290=)
c.73-2061C>T
c.639C>T (p.Phe213=)
c.705C>T (p.Phe235=)
c.714C>T (p.Phe238=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.21573673G>ACA273965ALPLc.871G>A (p.Glu291Lys)
c.73-2060G>A
c.640G>A (p.Glu214Lys)
c.706G>A (p.Glu236Lys)
c.715G>A (p.Glu239Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21573673G>CCA338880177ALPLc.871G>C (p.Glu291Gln)
c.73-2060G>C
c.640G>C (p.Glu214Gln)
c.706G>C (p.Glu236Gln)
c.715G>C (p.Glu239Gln)
 ClinVar
1g.21573673G=CA1158018320ALPLc.871G= (p.Glu291=)
c.73-2060G=
c.640G= (p.Glu214=)
c.706G= (p.Glu236=)
c.715G= (p.Glu239=)
1g.21573673G>TCA338880178ALPLc.871G>T (p.Glu291Ter)
c.73-2060G>T
c.640G>T (p.Glu214Ter)
c.706G>T (p.Glu236Ter)
c.715G>T (p.Glu239Ter)
 ClinVar
1g.21573674A>CCA338880179ALPLc.872A>C (p.Glu291Ala)
c.73-2059A>C
c.641A>C (p.Glu214Ala)
c.707A>C (p.Glu236Ala)
c.716A>C (p.Glu239Ala)
1g.21573674A>GCA338880180ALPLc.872A>G (p.Glu291Gly)
c.73-2059A>G
c.641A>G (p.Glu214Gly)
c.707A>G (p.Glu236Gly)
c.716A>G (p.Glu239Gly)
1g.21573674A>TCA338880181ALPLc.872A>T (p.Glu291Val)
c.73-2059A>T
c.641A>T (p.Glu214Val)
c.707A>T (p.Glu236Val)
c.716A>T (p.Glu239Val)
1g.21573675G>ACA416532326ALPLc.873G>A (p.Glu291=)
c.73-2058G>A
c.642G>A (p.Glu214=)
c.708G>A (p.Glu236=)
c.717G>A (p.Glu239=)
 gnomAD v4
1g.21573675G>CCA338880182ALPLc.873G>C (p.Glu291Asp)
c.73-2058G>C
c.642G>C (p.Glu214Asp)
c.708G>C (p.Glu236Asp)
c.717G>C (p.Glu239Asp)
1g.21573675G>TCA338880183ALPLc.873G>T (p.Glu291Asp)
c.73-2058G>T
c.642G>T (p.Glu214Asp)
c.708G>T (p.Glu236Asp)
c.717G>T (p.Glu239Asp)
 gnomAD v4
1g.21573676C>ACA666669ALPLc.874C>A (p.Pro292Thr)
c.73-2057C>A
c.643C>A (p.Pro215Thr)
c.709C>A (p.Pro237Thr)
c.718C>A (p.Pro240Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573676C=CA1158018321ALPLc.874C= (p.Pro292=)
c.73-2057C=
c.643C= (p.Pro215=)
c.709C= (p.Pro237=)
c.718C= (p.Pro240=)
1g.21573676C>GCA338880184ALPLc.874C>G (p.Pro292Ala)
c.73-2057C>G
c.643C>G (p.Pro215Ala)
c.709C>G (p.Pro237Ala)
c.718C>G (p.Pro240Ala)
1g.21573676C>TCA666668ALPLc.874C>T (p.Pro292Ser)
c.73-2057C>T
c.643C>T (p.Pro215Ser)
c.709C>T (p.Pro237Ser)
c.718C>T (p.Pro240Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573677C>ACA338880185ALPLc.875C>A (p.Pro292Gln)
c.73-2056C>A
c.644C>A (p.Pro215Gln)
c.710C>A (p.Pro237Gln)
c.719C>A (p.Pro240Gln)
 gnomAD v4
1g.21573677C=CA1158018324ALPLc.875C= (p.Pro292=)
c.73-2056C=
c.644C= (p.Pro215=)
c.710C= (p.Pro237=)
c.719C= (p.Pro240=)
1g.21573677C>GCA338880187ALPLc.875C>G (p.Pro292Arg)
c.73-2056C>G
c.644C>G (p.Pro215Arg)
c.710C>G (p.Pro237Arg)
c.719C>G (p.Pro240Arg)
1g.21573677C>TCA338880186ALPLc.875C>T (p.Pro292Leu)
c.73-2056C>T
c.644C>T (p.Pro215Leu)
c.710C>T (p.Pro237Leu)
c.719C>T (p.Pro240Leu)
 dbSNP gnomAD v4
1g.21573677_21573683delinsTCA2586964054ALPLc.875_881delinsT (p.Pro292_Asp294delinsLeu)
c.73-2056_73-2050delinsT
c.644_650delinsT (p.Pro215_Asp217delinsLeu)
c.710_716delinsT (p.Pro237_Asp239delinsLeu)
c.719_725delinsT (p.Pro240_Asp242delinsLeu)
1g.21573677_21573683delinsCAGGGGACA1158018322ALPLc.875_881delinsCAGGGGA (p.Pro292=)
c.73-2056_73-2050delinsCAGGGGA
c.644_650delinsCAGGGGA (p.Pro215=)
c.710_716delinsCAGGGGA (p.Pro237=)
c.719_725delinsCAGGGGA (p.Pro240=)
1g.21573677_21573684delinsCAGGGGACCA1158018323ALPLc.875_882delinsCAGGGGAC (p.Pro292=)
c.73-2056_73-2049delinsCAGGGGAC
c.644_651delinsCAGGGGAC (p.Pro215=)
c.710_717delinsCAGGGGAC (p.Pro237=)
c.719_726delinsCAGGGGAC (p.Pro240=)
1g.21573679_21573685delCA2586964055ALPLc.877_883del (p.Gly293CysfsTer5)
c.73-2054_73-2048del
c.646_652del (p.Gly216CysfsTer5)
c.712_718del (p.Gly238CysfsTer5)
c.721_727del (p.Gly241CysfsTer5)
1g.21573678A=CA1139989381ALPLc.876A= (p.Pro292=)
c.73-2055A=
c.645A= (p.Pro215=)
c.711A= (p.Pro237=)
c.720A= (p.Pro240=)
1g.21573678A>CCA416532353ALPLc.876A>C (p.Pro292=)
c.73-2055A>C
c.645A>C (p.Pro215=)
c.711A>C (p.Pro237=)
c.720A>C (p.Pro240=)
 dbSNP gnomAD v3 gnomAD v4
1g.21573678A>GCA666670ALPLc.876A>G (p.Pro292=)
c.73-2055A>G
c.645A>G (p.Pro215=)
c.711A>G (p.Pro237=)
c.720A>G (p.Pro240=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573678A>TCA416532351ALPLc.876A>T (p.Pro292=)
c.73-2055A>T
c.645A>T (p.Pro215=)
c.711A>T (p.Pro237=)
c.720A>T (p.Pro240=)
 dbSNP
1g.21573678_21573683delCA416532345ALPLc.876_881del (p.Gly293_Asp294del)
c.73-2055_73-2050del
c.645_650del (p.Gly216_Asp217del)
c.711_716del (p.Gly238_Asp239del)
c.720_725del (p.Gly241_Asp242del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573678_21573684delinsTCA658656891ALPLc.876_882delinsT (p.Gly293_Asp294del)
c.73-2055_73-2049delinsT
c.645_651delinsT (p.Gly216_Asp217del)
c.711_717delinsT (p.Gly238_Asp239del)
c.720_726delinsT (p.Gly241_Asp242del)
 ClinVar dbSNP
1g.21573679G>ACA338880191ALPLc.877G>A (p.Gly293Arg)
c.73-2054G>A
c.646G>A (p.Gly216Arg)
c.712G>A (p.Gly238Arg)
c.721G>A (p.Gly241Arg)
1g.21573679G>CCA338880188ALPLc.877G>C (p.Gly293Arg)
c.73-2054G>C
c.646G>C (p.Gly216Arg)
c.712G>C (p.Gly238Arg)
c.721G>C (p.Gly241Arg)
1g.21573679G>TCA338880189ALPLc.877G>T (p.Gly293Trp)
c.73-2054G>T
c.646G>T (p.Gly216Trp)
c.712G>T (p.Gly238Trp)
c.721G>T (p.Gly241Trp)
1g.21573682delCA2574252925ALPLc.880del (p.Asp294ThrfsTer6)
c.73-2051del
c.649del (p.Asp217ThrfsTer6)
c.715del (p.Asp239ThrfsTer6)
c.724del (p.Asp242ThrfsTer6)
 ClinVar
1g.21573679_21573684delCA338880190ALPLc.877_882del (p.Gly293_Asp294del)
c.73-2054_73-2049del
c.646_651del (p.Gly216_Asp217del)
c.712_717del (p.Gly238_Asp239del)
c.721_726del (p.Gly241_Asp242del)
 ClinVar
1g.21573680G>ACA338880192ALPLc.878G>A (p.Gly293Glu)
c.73-2053G>A
c.647G>A (p.Gly216Glu)
c.713G>A (p.Gly238Glu)
c.722G>A (p.Gly241Glu)
1g.21573680G>CCA338880193ALPLc.878G>C (p.Gly293Ala)
c.73-2053G>C
c.647G>C (p.Gly216Ala)
c.713G>C (p.Gly238Ala)
c.722G>C (p.Gly241Ala)
1g.21573680G>TCA338880194ALPLc.878G>T (p.Gly293Val)
c.73-2053G>T
c.647G>T (p.Gly216Val)
c.713G>T (p.Gly238Val)
c.722G>T (p.Gly241Val)
1g.21573681G>ACA416532370ALPLc.879G>A (p.Gly293=)
c.73-2052G>A
c.648G>A (p.Gly216=)
c.714G>A (p.Gly238=)
c.723G>A (p.Gly241=)
 ClinVar gnomAD v4
1g.21573681G>CCA416532367ALPLc.879G>C (p.Gly293=)
c.73-2052G>C
c.648G>C (p.Gly216=)
c.714G>C (p.Gly238=)
c.723G>C (p.Gly241=)
1g.21573681G>TCA416532373ALPLc.879G>T (p.Gly293=)
c.73-2052G>T
c.648G>T (p.Gly216=)
c.714G>T (p.Gly238=)
c.723G>T (p.Gly241=)
 ClinVar
1g.21573682G>ACA338880195ALPLc.880G>A (p.Asp294Asn)
c.73-2051G>A
c.649G>A (p.Asp217Asn)
c.715G>A (p.Asp239Asn)
c.724G>A (p.Asp242Asn)
 ClinVar
1g.21573682G>CCA338880196ALPLc.880G>C (p.Asp294His)
c.73-2051G>C
c.649G>C (p.Asp217His)
c.715G>C (p.Asp239His)
c.724G>C (p.Asp242His)
 gnomAD v4
1g.21573682G=CA1158018325ALPLc.880G= (p.Asp294=)
c.73-2051G=
c.649G= (p.Asp217=)
c.715G= (p.Asp239=)
c.724G= (p.Asp242=)
1g.21573682G>TCA338880197ALPLc.880G>T (p.Asp294Tyr)
c.73-2051G>T
c.649G>T (p.Asp217Tyr)
c.715G>T (p.Asp239Tyr)
c.724G>T (p.Asp242Tyr)
 ClinVar dbSNP gnomAD v4
1g.21573683A=CA1141580643ALPLc.881A= (p.Asp294=)
c.73-2050A=
c.650A= (p.Asp217=)
c.716A= (p.Asp239=)
c.725A= (p.Asp242=)
1g.21573683A>CCA256921ALPLc.881A>C (p.Asp294Ala)
c.73-2050A>C
c.650A>C (p.Asp217Ala)
c.716A>C (p.Asp239Ala)
c.725A>C (p.Asp242Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573683A>GCA338880198ALPLc.881A>G (p.Asp294Gly)
c.73-2050A>G
c.650A>G (p.Asp217Gly)
c.716A>G (p.Asp239Gly)
c.725A>G (p.Asp242Gly)
 ClinVar
1g.21573683A>TCA338880199ALPLc.881A>T (p.Asp294Val)
c.73-2050A>T
c.650A>T (p.Asp217Val)
c.716A>T (p.Asp239Val)
c.725A>T (p.Asp242Val)
1g.21573684C>ACA338880201ALPLc.882C>A (p.Asp294Glu)
c.73-2049C>A
c.651C>A (p.Asp217Glu)
c.717C>A (p.Asp239Glu)
c.726C>A (p.Asp242Glu)
 dbSNP gnomAD v4
1g.21573684C=CA1158018326ALPLc.882C= (p.Asp294=)
c.73-2049C=
c.651C= (p.Asp217=)
c.717C= (p.Asp239=)
c.726C= (p.Asp242=)
1g.21573684C>GCA338880200ALPLc.882C>G (p.Asp294Glu)
c.73-2049C>G
c.651C>G (p.Asp217Glu)
c.717C>G (p.Asp239Glu)
c.726C>G (p.Asp242Glu)
1g.21573684C>TCA416532406ALPLc.882C>T (p.Asp294=)
c.73-2049C>T
c.651C>T (p.Asp217=)
c.717C>T (p.Asp239=)
c.726C>T (p.Asp242=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573685A=CA1158018327ALPLc.883A= (p.Met295=)
c.73-2048A=
c.652A= (p.Met218=)
c.718A= (p.Met240=)
c.727A= (p.Met243=)
1g.21573685A>CCA338880202ALPLc.883A>C (p.Met295Leu)
c.73-2048A>C
c.652A>C (p.Met218Leu)
c.718A>C (p.Met240Leu)
c.727A>C (p.Met243Leu)
1g.21573685A>GCA338880203ALPLc.883A>G (p.Met295Val)
c.73-2048A>G
c.652A>G (p.Met218Val)
c.718A>G (p.Met240Val)
c.727A>G (p.Met243Val)
 ClinVar gnomAD v4
1g.21573685A>TCA338880204ALPLc.883A>T (p.Met295Leu)
c.73-2048A>T
c.652A>T (p.Met218Leu)
c.718A>T (p.Met240Leu)
c.727A>T (p.Met243Leu)
 dbSNP
1g.21573686T>ACA338880205ALPLc.884T>A (p.Met295Lys)
c.73-2047T>A
c.653T>A (p.Met218Lys)
c.719T>A (p.Met240Lys)
c.728T>A (p.Met243Lys)
1g.21573686T>CCA338880206ALPLc.884T>C (p.Met295Thr)
c.73-2047T>C
c.653T>C (p.Met218Thr)
c.719T>C (p.Met240Thr)
c.728T>C (p.Met243Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573686T>GCA338880207ALPLc.884T>G (p.Met295Arg)
c.73-2047T>G
c.653T>G (p.Met218Arg)
c.719T>G (p.Met240Arg)
c.728T>G (p.Met243Arg)
1g.21573686T=CA1158018328ALPLc.884T= (p.Met295=)
c.73-2047T=
c.653T= (p.Met218=)
c.719T= (p.Met240=)
c.728T= (p.Met243=)
1g.21573687G>ACA338880208ALPLc.885G>A (p.Met295Ile)
c.73-2046G>A
c.654G>A (p.Met218Ile)
c.720G>A (p.Met240Ile)
c.729G>A (p.Met243Ile)
1g.21573687G>CCA338880209ALPLc.885G>C (p.Met295Ile)
c.73-2046G>C
c.654G>C (p.Met218Ile)
c.720G>C (p.Met240Ile)
c.729G>C (p.Met243Ile)
1g.21573687G>TCA338880210ALPLc.885G>T (p.Met295Ile)
c.73-2046G>T
c.654G>T (p.Met218Ile)
c.720G>T (p.Met240Ile)
c.729G>T (p.Met243Ile)
1g.21573688C>ACA338880211ALPLc.886C>A (p.Gln296Lys)
c.73-2045C>A
c.655C>A (p.Gln219Lys)
c.721C>A (p.Gln241Lys)
c.730C>A (p.Gln244Lys)
 gnomAD v4
1g.21573688C>GCA338880212ALPLc.886C>G (p.Gln296Glu)
c.73-2045C>G
c.655C>G (p.Gln219Glu)
c.721C>G (p.Gln241Glu)
c.730C>G (p.Gln244Glu)
1g.21573688C>TCA338880213ALPLc.886C>T (p.Gln296Ter)
c.73-2045C>T
c.655C>T (p.Gln219Ter)
c.721C>T (p.Gln241Ter)
c.730C>T (p.Gln244Ter)
 ClinVar dbSNP gnomAD v4
1g.21573689A=CA1148476431ALPLc.887A= (p.Gln296=)
c.73-2044A=
c.656A= (p.Gln219=)
c.722A= (p.Gln241=)
c.731A= (p.Gln244=)
1g.21573689A>CCA338880215ALPLc.887A>C (p.Gln296Pro)
c.73-2044A>C
c.656A>C (p.Gln219Pro)
c.722A>C (p.Gln241Pro)
c.731A>C (p.Gln244Pro)
 ClinVar
1g.21573689A>GCA338880214ALPLc.887A>G (p.Gln296Arg)
c.73-2044A>G
c.656A>G (p.Gln219Arg)
c.722A>G (p.Gln241Arg)
c.731A>G (p.Gln244Arg)
1g.21573689A>TCA666671ALPLc.887A>T (p.Gln296Leu)
c.73-2044A>T
c.656A>T (p.Gln219Leu)
c.722A>T (p.Gln241Leu)
c.731A>T (p.Gln244Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573690G>ACA416532450ALPLc.888G>A (p.Gln296=)
c.73-2043G>A
c.657G>A (p.Gln219=)
c.723G>A (p.Gln241=)
c.732G>A (p.Gln244=)
1g.21573690G>CCA338880216ALPLc.888G>C (p.Gln296His)
c.73-2043G>C
c.657G>C (p.Gln219His)
c.723G>C (p.Gln241His)
c.732G>C (p.Gln244His)
1g.21573690G>TCA338880217ALPLc.888G>T (p.Gln296His)
c.73-2043G>T
c.657G>T (p.Gln219His)
c.723G>T (p.Gln241His)
c.732G>T (p.Gln244His)
 dbSNP
1g.21573691T>ACA338880218ALPLc.889T>A (p.Tyr297Asn)
c.73-2042T>A
c.658T>A (p.Tyr220Asn)
c.724T>A (p.Tyr242Asn)
c.733T>A (p.Tyr245Asn)
 ClinVar dbSNP
1g.21573691T>CCA338880219ALPLc.889T>C (p.Tyr297His)
c.73-2042T>C
c.658T>C (p.Tyr220His)
c.724T>C (p.Tyr242His)
c.733T>C (p.Tyr245His)
1g.21573691T>GCA338880220ALPLc.889T>G (p.Tyr297Asp)
c.73-2042T>G
c.658T>G (p.Tyr220Asp)
c.724T>G (p.Tyr242Asp)
c.733T>G (p.Tyr245Asp)
1g.21573692A=CA1158018329ALPLc.890A= (p.Tyr297=)
c.73-2041A=
c.659A= (p.Tyr220=)
c.725A= (p.Tyr242=)
c.734A= (p.Tyr245=)
1g.21573692A>CCA338880221ALPLc.890A>C (p.Tyr297Ser)
c.73-2041A>C
c.659A>C (p.Tyr220Ser)
c.725A>C (p.Tyr242Ser)
c.734A>C (p.Tyr245Ser)
1g.21573692A>GCA338880222ALPLc.890A>G (p.Tyr297Cys)
c.73-2041A>G
c.659A>G (p.Tyr220Cys)
c.725A>G (p.Tyr242Cys)
c.734A>G (p.Tyr245Cys)
 dbSNP gnomAD v3 gnomAD v4
1g.21573692A>TCA338880223ALPLc.890A>T (p.Tyr297Phe)
c.73-2041A>T
c.659A>T (p.Tyr220Phe)
c.725A>T (p.Tyr242Phe)
c.734A>T (p.Tyr245Phe)
 gnomAD v4
1g.21573693C>ACA274381ALPLc.891C>A (p.Tyr297Ter)
c.73-2040C>A
c.660C>A (p.Tyr220Ter)
c.726C>A (p.Tyr242Ter)
c.735C>A (p.Tyr245Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573693C=CA1158018330ALPLc.891C= (p.Tyr297=)
c.73-2040C=
c.660C= (p.Tyr220=)
c.726C= (p.Tyr242=)
c.735C= (p.Tyr245=)
1g.21573693C>GCA338880224ALPLc.891C>G (p.Tyr297Ter)
c.73-2040C>G
c.660C>G (p.Tyr220Ter)
c.726C>G (p.Tyr242Ter)
c.735C>G (p.Tyr245Ter)
 ClinVar
1g.21573693C>TCA416532474ALPLc.891C>T (p.Tyr297=)
c.73-2040C>T
c.660C>T (p.Tyr220=)
c.726C>T (p.Tyr242=)
c.735C>T (p.Tyr245=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.21573694G>ACA256926ALPLc.892G>A (p.Glu298Lys)
c.73-2039G>A
c.661G>A (p.Glu221Lys)
c.727G>A (p.Glu243Lys)
c.736G>A (p.Glu246Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573694G>CCA338880225ALPLc.892G>C (p.Glu298Gln)
c.73-2039G>C
c.661G>C (p.Glu221Gln)
c.727G>C (p.Glu243Gln)
c.736G>C (p.Glu246Gln)
 dbSNP gnomAD v4
1g.21573694G=CA1141580644ALPLc.892G= (p.Glu298=)
c.73-2039G=
c.661G= (p.Glu221=)
c.727G= (p.Glu243=)
c.736G= (p.Glu246=)
1g.21573694G>TCA338880226ALPLc.892G>T (p.Glu298Ter)
c.73-2039G>T
c.661G>T (p.Glu221Ter)
c.727G>T (p.Glu243Ter)
c.736G>T (p.Glu246Ter)
1g.21573695A>CCA338880227ALPLc.893A>C (p.Glu298Ala)
c.73-2038A>C
c.662A>C (p.Glu221Ala)
c.728A>C (p.Glu243Ala)
c.737A>C (p.Glu246Ala)
1g.21573695A>GCA338880229ALPLc.893A>G (p.Glu298Gly)
c.73-2038A>G
c.662A>G (p.Glu221Gly)
c.728A>G (p.Glu243Gly)
c.737A>G (p.Glu246Gly)
1g.21573695A>TCA338880228ALPLc.893A>T (p.Glu298Val)
c.73-2038A>T
c.662A>T (p.Glu221Val)
c.728A>T (p.Glu243Val)
c.737A>T (p.Glu246Val)
1g.21573696G>ACA416532494ALPLc.894G>A (p.Glu298=)
c.73-2037G>A
c.663G>A (p.Glu221=)
c.729G>A (p.Glu243=)
c.738G>A (p.Glu246=)
 ClinVar gnomAD v4
1g.21573696G>CCA338880230ALPLc.894G>C (p.Glu298Asp)
c.73-2037G>C
c.663G>C (p.Glu221Asp)
c.729G>C (p.Glu243Asp)
c.738G>C (p.Glu246Asp)
1g.21573696G>TCA338880231ALPLc.894G>T (p.Glu298Asp)
c.73-2037G>T
c.663G>T (p.Glu221Asp)
c.729G>T (p.Glu243Asp)
c.738G>T (p.Glu246Asp)
 ClinVar gnomAD v4
1g.21573697C>ACA338880232ALPLc.895C>A (p.Leu299Met)
c.73-2036C>A
c.664C>A (p.Leu222Met)
c.730C>A (p.Leu244Met)
c.739C>A (p.Leu247Met)
1g.21573697C>GCA338880233ALPLc.895C>G (p.Leu299Val)
c.73-2036C>G
c.664C>G (p.Leu222Val)
c.730C>G (p.Leu244Val)
c.739C>G (p.Leu247Val)
1g.21573697C>TCA416532500ALPLc.895C>T (p.Leu299=)
c.73-2036C>T
c.664C>T (p.Leu222=)
c.730C>T (p.Leu244=)
c.739C>T (p.Leu247=)
1g.21573698T>ACA338880234ALPLc.896T>A (p.Leu299Gln)
c.73-2035T>A
c.665T>A (p.Leu222Gln)
c.731T>A (p.Leu244Gln)
c.740T>A (p.Leu247Gln)
1g.21573698T>CCA338880235ALPLc.896T>C (p.Leu299Pro)
c.73-2035T>C
c.665T>C (p.Leu222Pro)
c.731T>C (p.Leu244Pro)
c.740T>C (p.Leu247Pro)
 ClinVar dbSNP
1g.21573698T>GCA338880236ALPLc.896T>G (p.Leu299Arg)
c.73-2035T>G
c.665T>G (p.Leu222Arg)
c.731T>G (p.Leu244Arg)
c.740T>G (p.Leu247Arg)
1g.21573699G>ACA416532516ALPLc.897G>A (p.Leu299=)
c.73-2034G>A
c.666G>A (p.Leu222=)
c.732G>A (p.Leu244=)
c.741G>A (p.Leu247=)
1g.21573699G>CCA416532513ALPLc.897G>C (p.Leu299=)
c.73-2034G>C
c.666G>C (p.Leu222=)
c.732G>C (p.Leu244=)
c.741G>C (p.Leu247=)
1g.21573699G>TCA416532510ALPLc.897G>T (p.Leu299=)
c.73-2034G>T
c.666G>T (p.Leu222=)
c.732G>T (p.Leu244=)
c.741G>T (p.Leu247=)
1g.21573700A>CCA338880237ALPLc.898A>C (p.Asn300His)
c.73-2033A>C
c.667A>C (p.Asn223His)
c.733A>C (p.Asn245His)
c.742A>C (p.Asn248His)
1g.21573700A>GCA338880238ALPLc.898A>G (p.Asn300Asp)
c.73-2033A>G
c.667A>G (p.Asn223Asp)
c.733A>G (p.Asn245Asp)
c.742A>G (p.Asn248Asp)
1g.21573700A>TCA338880239ALPLc.898A>T (p.Asn300Tyr)
c.73-2033A>T
c.667A>T (p.Asn223Tyr)
c.733A>T (p.Asn245Tyr)
c.742A>T (p.Asn248Tyr)
1g.21573700_21573701insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCTCA416532526ALPLc.898_899insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT (p.Asn300delinsIleArgLeuLysAsnGluLeuGlyIleThrPheLeuTyrValThrHisAspGlnGluGluAlaLeuThrMetSerAspLysValIleValMetAsnGlyGlyTyr)
c.73-2033_73-2032insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT
c.667_668insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT (p.Asn223delinsIleArgLeuLysAsnGluLeuGlyIleThrPheLeuTyrValThrHisAspGlnGluGluAlaLeuThrMetSerAspLysValIleValMetAsnGlyGlyTyr)
c.733_734insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT (p.Asn245delinsIleArgLeuLysAsnGluLeuGlyIleThrPheLeuTyrValThrHisAspGlnGluGluAlaLeuThrMetSerAspLysValIleValMetAsnGlyGlyTyr)
c.742_743insTTAGACTTAAGAACGAGCTTGGGATTACCTTCCTATATGTAACTCACGACCAAGAAGAAGCTCTTACTATGAGCGACAAGGTCATTGTAATGAACGGTGGCT (p.Asn248delinsIleArgLeuLysAsnGluLeuGlyIleThrPheLeuTyrValThrHisAspGlnGluGluAlaLeuThrMetSerAspLysValIleValMetAsnGlyGlyTyr)
1g.21573701A>CCA338880242ALPLc.899A>C (p.Asn300Thr)
c.73-2032A>C
c.668A>C (p.Asn223Thr)
c.734A>C (p.Asn245Thr)
c.743A>C (p.Asn248Thr)
1g.21573701A>GCA338880241ALPLc.899A>G (p.Asn300Ser)
c.73-2032A>G
c.668A>G (p.Asn223Ser)
c.734A>G (p.Asn245Ser)
c.743A>G (p.Asn248Ser)
1g.21573701A>TCA338880240ALPLc.899A>T (p.Asn300Ile)
c.73-2032A>T
c.668A>T (p.Asn223Ile)
c.734A>T (p.Asn245Ile)
c.743A>T (p.Asn248Ile)
1g.21573702C>ACA338880243ALPLc.900C>A (p.Asn300Lys)
c.73-2031C>A
c.669C>A (p.Asn223Lys)
c.735C>A (p.Asn245Lys)
c.744C>A (p.Asn248Lys)
 gnomAD v4
1g.21573702C=CA1158018331ALPLc.900C= (p.Asn300=)
c.73-2031C=
c.669C= (p.Asn223=)
c.735C= (p.Asn245=)
c.744C= (p.Asn248=)
1g.21573702C>GCA338880244ALPLc.900C>G (p.Asn300Lys)
c.73-2031C>G
c.669C>G (p.Asn223Lys)
c.735C>G (p.Asn245Lys)
c.744C>G (p.Asn248Lys)
 dbSNP
1g.21573702C>TCA416532532ALPLc.900C>T (p.Asn300=)
c.73-2031C>T
c.669C>T (p.Asn223=)
c.735C>T (p.Asn245=)
c.744C>T (p.Asn248=)
1g.21573703A>CCA416532536ALPLc.901A>C (p.Arg301=)
c.73-2030A>C
c.670A>C (p.Arg224=)
c.736A>C (p.Arg246=)
c.745A>C (p.Arg249=)
1g.21573703A>GCA338880245ALPLc.901A>G (p.Arg301Gly)
c.73-2030A>G
c.670A>G (p.Arg224Gly)
c.736A>G (p.Arg246Gly)
c.745A>G (p.Arg249Gly)
1g.21573703A>TCA338880246ALPLc.901A>T (p.Arg301Trp)
c.73-2030A>T
c.670A>T (p.Arg224Trp)
c.736A>T (p.Arg246Trp)
c.745A>T (p.Arg249Trp)
1g.21573703_21573704delinsAGCA1158018332ALPLc.901_902delinsAG (p.Arg301=)
c.73-2030_73-2029delinsAG
c.670_671delinsAG (p.Arg224=)
c.736_737delinsAG (p.Arg246=)
c.745_746delinsAG (p.Arg249=)
1g.21573704G>ACA338880247ALPLc.902G>A (p.Arg301Lys)
c.73-2029G>A
c.671G>A (p.Arg224Lys)
c.737G>A (p.Arg246Lys)
c.746G>A (p.Arg249Lys)
 ClinVar dbSNP
1g.21573704G>CCA338880248ALPLc.902G>C (p.Arg301Thr)
c.73-2029G>C
c.671G>C (p.Arg224Thr)
c.737G>C (p.Arg246Thr)
c.746G>C (p.Arg249Thr)
1g.21573704G=CA1158018333ALPLc.902G= (p.Arg301=)
c.73-2029G=
c.671G= (p.Arg224=)
c.737G= (p.Arg246=)
c.746G= (p.Arg249=)
1g.21573704G>TCA338880249ALPLc.902G>T (p.Arg301Met)
c.73-2029G>T
c.671G>T (p.Arg224Met)
c.737G>T (p.Arg246Met)
c.746G>T (p.Arg249Met)
1g.21573705delCA666672ALPLc.903del (p.Asn302ThrfsTer3)
c.73-2028del
c.672del (p.Asn225ThrfsTer3)
c.738del (p.Asn247ThrfsTer3)
c.747del (p.Asn250ThrfsTer3)
 ClinVar dbSNP ExAC gnomAD v4
1g.21573705G>ACA666673ALPLc.903G>A (p.Arg301=)
c.73-2028G>A
c.672G>A (p.Arg224=)
c.738G>A (p.Arg246=)
c.747G>A (p.Arg249=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.21573705G>CCA338880250ALPLc.903G>C (p.Arg301Ser)
c.73-2028G>C
c.672G>C (p.Arg224Ser)
c.738G>C (p.Arg246Ser)
c.747G>C (p.Arg249Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.21573705G=CA1149066334ALPLc.903G= (p.Arg301=)
c.73-2028G=
c.672G= (p.Arg224=)
c.738G= (p.Arg246=)
c.747G= (p.Arg249=)
1g.21573705G>TCA338880251ALPLc.903G>T (p.Arg301Ser)
c.73-2028G>T
c.672G>T (p.Arg224Ser)
c.738G>T (p.Arg246Ser)
c.747G>T (p.Arg249Ser)
 ClinVar gnomAD v4
1g.21573706A>CCA338880252ALPLc.904A>C (p.Asn302His)
c.73-2027A>C
c.673A>C (p.Asn225His)
c.739A>C (p.Asn247His)
c.748A>C (p.Asn250His)
1g.21573706A>GCA338880253ALPLc.904A>G (p.Asn302Asp)
c.73-2027A>G
c.673A>G (p.Asn225Asp)
c.739A>G (p.Asn247Asp)
c.748A>G (p.Asn250Asp)
1g.21573706A>TCA338880254ALPLc.904A>T (p.Asn302Tyr)
c.73-2027A>T
c.673A>T (p.Asn225Tyr)
c.739A>T (p.Asn247Tyr)
c.748A>T (p.Asn250Tyr)
1g.21573707A>CCA338880255ALPLc.905A>C (p.Asn302Thr)
c.73-2026A>C
c.674A>C (p.Asn225Thr)
c.740A>C (p.Asn247Thr)
c.749A>C (p.Asn250Thr)
1g.21573707A>GCA338880257ALPLc.905A>G (p.Asn302Ser)
c.73-2026A>G
c.674A>G (p.Asn225Ser)
c.740A>G (p.Asn247Ser)
c.749A>G (p.Asn250Ser)
1g.21573707A>TCA338880256ALPLc.905A>T (p.Asn302Ile)
c.73-2026A>T
c.674A>T (p.Asn225Ile)
c.740A>T (p.Asn247Ile)
c.749A>T (p.Asn250Ile)
1g.21573708C>ACA666674ALPLc.906C>A (p.Asn302Lys)
c.73-2025C>A
c.675C>A (p.Asn225Lys)
c.741C>A (p.Asn247Lys)
c.750C>A (p.Asn250Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573708C=CA1146752558ALPLc.906C= (p.Asn302=)
c.73-2025C=
c.675C= (p.Asn225=)
c.741C= (p.Asn247=)
c.750C= (p.Asn250=)
1g.21573708C>GCA666675ALPLc.906C>G (p.Asn302Lys)
c.73-2025C>G
c.675C>G (p.Asn225Lys)
c.741C>G (p.Asn247Lys)
c.750C>G (p.Asn250Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573708C>TCA416532568ALPLc.906C>T (p.Asn302=)
c.73-2025C>T
c.675C>T (p.Asn225=)
c.741C>T (p.Asn247=)
c.750C>T (p.Asn250=)
1g.21573709A>CCA338880258ALPLc.907A>C (p.Asn303His)
c.73-2024A>C
c.676A>C (p.Asn226His)
c.742A>C (p.Asn248His)
c.751A>C (p.Asn251His)
1g.21573709A>GCA338880259ALPLc.907A>G (p.Asn303Asp)
c.73-2024A>G
c.676A>G (p.Asn226Asp)
c.742A>G (p.Asn248Asp)
c.751A>G (p.Asn251Asp)
1g.21573709A>TCA338880260ALPLc.907A>T (p.Asn303Tyr)
c.73-2024A>T
c.676A>T (p.Asn226Tyr)
c.742A>T (p.Asn248Tyr)
c.751A>T (p.Asn251Tyr)
1g.21573709_21573710insCACGCA2580061454ALPLc.907_908insCACG (p.Asn303ThrfsTer?)
c.73-2024_73-2023insCACG
c.676_677insCACG (p.Asn226ThrfsTer?)
c.742_743insCACG (p.Asn248ThrfsTer?)
c.751_752insCACG (p.Asn251ThrfsTer?)
 ClinVar
1g.21573710A>CCA338880261ALPLc.908A>C (p.Asn303Thr)
c.73-2023A>C
c.677A>C (p.Asn226Thr)
c.743A>C (p.Asn248Thr)
c.752A>C (p.Asn251Thr)
1g.21573710A>GCA338880262ALPLc.908A>G (p.Asn303Ser)
c.73-2023A>G
c.677A>G (p.Asn226Ser)
c.743A>G (p.Asn248Ser)
c.752A>G (p.Asn251Ser)
1g.21573710A>TCA338880263ALPLc.908A>T (p.Asn303Ile)
c.73-2023A>T
c.677A>T (p.Asn226Ile)
c.743A>T (p.Asn248Ile)
c.752A>T (p.Asn251Ile)
1g.21573711C>ACA338880264ALPLc.909C>A (p.Asn303Lys)
c.73-2022C>A
c.678C>A (p.Asn226Lys)
c.744C>A (p.Asn248Lys)
c.753C>A (p.Asn251Lys)
1g.21573711C=CA1158018334ALPLc.909C= (p.Asn303=)
c.73-2022C=
c.678C= (p.Asn226=)
c.744C= (p.Asn248=)
c.753C= (p.Asn251=)
1g.21573711C>GCA338880265ALPLc.909C>G (p.Asn303Lys)
c.73-2022C>G
c.678C>G (p.Asn226Lys)
c.744C>G (p.Asn248Lys)
c.753C>G (p.Asn251Lys)
1g.21573711C>TCA416532586ALPLc.909C>T (p.Asn303=)
c.73-2022C>T
c.678C>T (p.Asn226=)
c.744C>T (p.Asn248=)
c.753C>T (p.Asn251=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.21573712G>ACA666676ALPLc.910G>A (p.Val304Met)
c.73-2021G>A
c.679G>A (p.Val227Met)
c.745G>A (p.Val249Met)
c.754G>A (p.Val252Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.21573712G>CCA338880267ALPLc.910G>C (p.Val304Leu)
c.73-2021G>C
c.679G>C (p.Val227Leu)
c.745G>C (p.Val249Leu)
c.754G>C (p.Val252Leu)
1g.21573712G=CA1148255032ALPLc.910G= (p.Val304=)
c.73-2021G=
c.679G= (p.Val227=)
c.745G= (p.Val249=)
c.754G= (p.Val252=)
1g.21573712G>TCA338880266ALPLc.910G>T (p.Val304Leu)
c.73-2021G>T
c.679G>T (p.Val227Leu)
c.745G>T (p.Val249Leu)
c.754G>T (p.Val252Leu)
1g.21573713T>ACA338880268ALPLc.911T>A (p.Val304Glu)
c.73-2020T>A
c.680T>A (p.Val227Glu)
c.746T>A (p.Val249Glu)
c.755T>A (p.Val252Glu)
1g.21573713T>CCA338880269ALPLc.911T>C (p.Val304Ala)
c.73-2020T>C
c.680T>C (p.Val227Ala)
c.746T>C (p.Val249Ala)
c.755T>C (p.Val252Ala)
1g.21573713T>GCA338880270ALPLc.911T>G (p.Val304Gly)
c.73-2020T>G
c.680T>G (p.Val227Gly)
c.746T>G (p.Val249Gly)
c.755T>G (p.Val252Gly)
1g.21573713dupCA2574252956ALPLc.911dup (p.Thr305AspfsTer?)
c.73-2020dup
c.680dup (p.Thr228AspfsTer?)
c.746dup (p.Thr250AspfsTer?)
c.755dup (p.Thr253AspfsTer?)
1g.21573714G>ACA416532605ALPLc.912G>A (p.Val304=)
c.73-2019G>A
c.681G>A (p.Val227=)
c.747G>A (p.Val249=)
c.756G>A (p.Val252=)
1g.21573714G>CCA416532603ALPLc.912G>C (p.Val304=)
c.73-2019G>C
c.681G>C (p.Val227=)
c.747G>C (p.Val249=)
c.756G>C (p.Val252=)
1g.21573714G>TCA416532608ALPLc.912G>T (p.Val304=)
c.73-2019G>T
c.681G>T (p.Val227=)
c.747G>T (p.Val249=)
c.756G>T (p.Val252=)
1g.21573715A>CCA338880271ALPLc.913A>C (p.Thr305Pro)
c.73-2018A>C
c.682A>C (p.Thr228Pro)
c.748A>C (p.Thr250Pro)
c.757A>C (p.Thr253Pro)
1g.21573715A>GCA338880272ALPLc.913A>G (p.Thr305Ala)
c.73-2018A>G
c.682A>G (p.Thr228Ala)
c.748A>G (p.Thr250Ala)
c.757A>G (p.Thr253Ala)
1g.21573715A>TCA338880273ALPLc.913A>T (p.Thr305Ser)
c.73-2018A>T
c.682A>T (p.Thr228Ser)
c.748A>T (p.Thr250Ser)
c.757A>T (p.Thr253Ser)
1g.21573716C>ACA338880274ALPLc.914C>A (p.Thr305Lys)
c.73-2017C>A
c.683C>A (p.Thr228Lys)
c.749C>A (p.Thr250Lys)
c.758C>A (p.Thr253Lys)
 gnomAD v3 gnomAD v4
1g.21573716C=CA1142144445ALPLc.914C= (p.Thr305=)
c.73-2017C=
c.683C= (p.Thr228=)
c.749C= (p.Thr250=)
c.758C= (p.Thr253=)
1g.21573716C>GCA338880275ALPLc.914C>G (p.Thr305Arg)
c.73-2017C>G
c.683C>G (p.Thr228Arg)
c.749C>G (p.Thr250Arg)
c.758C>G (p.Thr253Arg)
1g.21573716C>TCA666677ALPLc.914C>T (p.Thr305Met)
c.73-2017C>T
c.683C>T (p.Thr228Met)
c.749C>T (p.Thr250Met)
c.758C>T (p.Thr253Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573717G>ACA666678ALPLc.915G>A (p.Thr305=)
c.73-2016G>A
c.684G>A (p.Thr228=)
c.750G>A (p.Thr250=)
c.759G>A (p.Thr253=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573717G>CCA416532626ALPLc.915G>C (p.Thr305=)
c.73-2016G>C
c.684G>C (p.Thr228=)
c.750G>C (p.Thr250=)
c.759G>C (p.Thr253=)
 COSMIC
1g.21573717G=CA1144249684ALPLc.915G= (p.Thr305=)
c.73-2016G=
c.684G= (p.Thr228=)
c.750G= (p.Thr250=)
c.759G= (p.Thr253=)
1g.21573717G>TCA416532624ALPLc.915G>T (p.Thr305=)
c.73-2016G>T
c.684G>T (p.Thr228=)
c.750G>T (p.Thr250=)
c.759G>T (p.Thr253=)
 dbSNP gnomAD v2 gnomAD v4
1g.21573718G>ACA338880276ALPLc.916G>A (p.Asp306Asn)
c.73-2015G>A
c.685G>A (p.Asp229Asn)
c.751G>A (p.Asp251Asn)
c.760G>A (p.Asp254Asn)
 gnomAD v4 COSMIC
1g.21573718G>CCA338880277ALPLc.916G>C (p.Asp306His)
c.73-2015G>C
c.685G>C (p.Asp229His)
c.751G>C (p.Asp251His)
c.760G>C (p.Asp254His)
1g.21573718G=CA1158018335ALPLc.916G= (p.Asp306=)
c.73-2015G=
c.685G= (p.Asp229=)
c.751G= (p.Asp251=)
c.760G= (p.Asp254=)
1g.21573718G>TCA338880278ALPLc.916G>T (p.Asp306Tyr)
c.73-2015G>T
c.685G>T (p.Asp229Tyr)
c.751G>T (p.Asp251Tyr)
c.760G>T (p.Asp254Tyr)
 dbSNP gnomAD v3 gnomAD v4
1g.21573719A=CA1158018336ALPLc.917A= (p.Asp306=)
c.73-2014A=
c.686A= (p.Asp229=)
c.752A= (p.Asp251=)
c.761A= (p.Asp254=)
1g.21573719A>CCA338880281ALPLc.917A>C (p.Asp306Ala)
c.73-2014A>C
c.686A>C (p.Asp229Ala)
c.752A>C (p.Asp251Ala)
c.761A>C (p.Asp254Ala)
 dbSNP
1g.21573719A>GCA338880279ALPLc.917A>G (p.Asp306Gly)
c.73-2014A>G
c.686A>G (p.Asp229Gly)
c.752A>G (p.Asp251Gly)
c.761A>G (p.Asp254Gly)
1g.21573719A>TCA338880280ALPLc.917A>T (p.Asp306Val)
c.73-2014A>T
c.686A>T (p.Asp229Val)
c.752A>T (p.Asp251Val)
c.761A>T (p.Asp254Val)
1g.21573720C>ACA338880282ALPLc.918C>A (p.Asp306Glu)
c.73-2013C>A
c.687C>A (p.Asp229Glu)
c.753C>A (p.Asp251Glu)
c.762C>A (p.Asp254Glu)
 dbSNP gnomAD v3 gnomAD v4
1g.21573720C=CA1143916242ALPLc.918C= (p.Asp306=)
c.73-2013C=
c.687C= (p.Asp229=)
c.753C= (p.Asp251=)
c.762C= (p.Asp254=)
1g.21573720C>GCA338880283ALPLc.918C>G (p.Asp306Glu)
c.73-2013C>G
c.687C>G (p.Asp229Glu)
c.753C>G (p.Asp251Glu)
c.762C>G (p.Asp254Glu)
1g.21573720C>TCA666679ALPLc.918C>T (p.Asp306=)
c.73-2013C>T
c.687C>T (p.Asp229=)
c.753C>T (p.Asp251=)
c.762C>T (p.Asp254=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573721C>ACA338880284ALPLc.919C>A (p.Pro307Thr)
c.73-2012C>A
c.688C>A (p.Pro230Thr)
c.754C>A (p.Pro252Thr)
c.763C>A (p.Pro255Thr)
1g.21573721C=CA1158018337ALPLc.919C= (p.Pro307=)
c.73-2012C=
c.688C= (p.Pro230=)
c.754C= (p.Pro252=)
c.763C= (p.Pro255=)
1g.21573721C>GCA338880285ALPLc.919C>G (p.Pro307Ala)
c.73-2012C>G
c.688C>G (p.Pro230Ala)
c.754C>G (p.Pro252Ala)
c.763C>G (p.Pro255Ala)
1g.21573721C>TCA338880286ALPLc.919C>T (p.Pro307Ser)
c.73-2012C>T
c.688C>T (p.Pro230Ser)
c.754C>T (p.Pro252Ser)
c.763C>T (p.Pro255Ser)
 ClinVar dbSNP
1g.21573722C>ACA338880287ALPLc.920C>A (p.Pro307Gln)
c.73-2011C>A
c.689C>A (p.Pro230Gln)
c.755C>A (p.Pro252Gln)
c.764C>A (p.Pro255Gln)
 gnomAD v4
1g.21573722C=CA1158018338ALPLc.920C= (p.Pro307=)
c.73-2011C=
c.689C= (p.Pro230=)
c.755C= (p.Pro252=)
c.764C= (p.Pro255=)
1g.21573722C>GCA338880288ALPLc.920C>G (p.Pro307Arg)
c.73-2011C>G
c.689C>G (p.Pro230Arg)
c.755C>G (p.Pro252Arg)
c.764C>G (p.Pro255Arg)
1g.21573722C>TCA666680ALPLc.920C>T (p.Pro307Leu)
c.73-2011C>T
c.689C>T (p.Pro230Leu)
c.755C>T (p.Pro252Leu)
c.764C>T (p.Pro255Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.21573723delCA2586964057ALPLc.921del (p.Ser308HisfsTer?)
c.73-2010del
c.690del (p.Ser231HisfsTer?)
c.756del (p.Ser253HisfsTer?)
c.765del (p.Ser256HisfsTer?)
1g.21573723G>ACA416532635ALPLc.921G>A (p.Pro307=)
c.73-2010G>A
c.690G>A (p.Pro230=)
c.756G>A (p.Pro252=)
c.765G>A (p.Pro255=)
 ClinVar dbSNP gnomAD v4 COSMIC
1g.21573723G>CCA416532634ALPLc.921G>C (p.Pro307=)
c.73-2010G>C
c.690G>C (p.Pro230=)
c.756G>C (p.Pro252=)
c.765G>C (p.Pro255=)
1g.21573723G=CA1158018339ALPLc.921G= (p.Pro307=)
c.73-2010G=
c.690G= (p.Pro230=)
c.756G= (p.Pro252=)
c.765G= (p.Pro255=)
1g.21573723G>TCA416532636ALPLc.921G>T (p.Pro307=)
c.73-2010G>T
c.690G>T (p.Pro230=)
c.756G>T (p.Pro252=)
c.765G>T (p.Pro255=)
1g.21573724T>ACA338880289ALPLc.922T>A (p.Ser308Thr)
c.73-2009T>A
c.691T>A (p.Ser231Thr)
c.757T>A (p.Ser253Thr)
c.766T>A (p.Ser256Thr)
1g.21573724T>CCA338880290ALPLc.922T>C (p.Ser308Pro)
c.73-2009T>C
c.691T>C (p.Ser231Pro)
c.757T>C (p.Ser253Pro)
c.766T>C (p.Ser256Pro)
 dbSNP
1g.21573724T>GCA338880291ALPLc.922T>G (p.Ser308Ala)
c.73-2009T>G
c.691T>G (p.Ser231Ala)
c.757T>G (p.Ser253Ala)
c.766T>G (p.Ser256Ala)
1g.21573724T=CA1158018340ALPLc.922T= (p.Ser308=)
c.73-2009T=
c.691T= (p.Ser231=)
c.757T= (p.Ser253=)
c.766T= (p.Ser256=)
1g.21573725C>ACA666681ALPLc.923C>A (p.Ser308Ter)
c.73-2008C>A
c.692C>A (p.Ser231Ter)
c.758C>A (p.Ser253Ter)
c.767C>A (p.Ser256Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573725C=CA1144111808ALPLc.923C= (p.Ser308=)
c.73-2008C=
c.692C= (p.Ser231=)
c.758C= (p.Ser253=)
c.767C= (p.Ser256=)
1g.21573725C>GCA338880292ALPLc.923C>G (p.Ser308Ter)
c.73-2008C>G
c.692C>G (p.Ser231Ter)
c.758C>G (p.Ser253Ter)
c.767C>G (p.Ser256Ter)
 ClinVar dbSNP gnomAD v4
1g.21573725C>TCA19068102ALPLc.923C>T (p.Ser308Leu)
c.73-2008C>T
c.692C>T (p.Ser231Leu)
c.758C>T (p.Ser253Leu)
c.767C>T (p.Ser256Leu)
 dbSNP gnomAD v4
1g.21573726A>CCA416532638ALPLc.924A>C (p.Ser308=)
c.73-2007A>C
c.693A>C (p.Ser231=)
c.759A>C (p.Ser253=)
c.768A>C (p.Ser256=)
1g.21573726A>GCA416532637ALPLc.924A>G (p.Ser308=)
c.73-2007A>G
c.693A>G (p.Ser231=)
c.759A>G (p.Ser253=)
c.768A>G (p.Ser256=)
1g.21573726A>TCA416532639ALPLc.924A>T (p.Ser308=)
c.73-2007A>T
c.693A>T (p.Ser231=)
c.759A>T (p.Ser253=)
c.768A>T (p.Ser256=)
1g.21573726_21573728delinsACTCA1158018341ALPLc.924_926delinsACT (p.Ser308=)
c.73-2007_73-2005delinsACT
c.693_695delinsACT (p.Ser231=)
c.759_761delinsACT (p.Ser253=)
c.768_770delinsACT (p.Ser256=)
1g.21573727C>ACA338880294ALPLc.925C>A (p.Leu309Ile)
c.73-2006C>A
c.694C>A (p.Leu232Ile)
c.760C>A (p.Leu254Ile)
c.769C>A (p.Leu257Ile)
1g.21573727C>GCA338880293ALPLc.925C>G (p.Leu309Val)
c.73-2006C>G
c.694C>G (p.Leu232Val)
c.760C>G (p.Leu254Val)
c.769C>G (p.Leu257Val)
1g.21573727C>TCA338880295ALPLc.925C>T (p.Leu309Phe)
c.73-2006C>T
c.694C>T (p.Leu232Phe)
c.760C>T (p.Leu254Phe)
c.769C>T (p.Leu257Phe)
1g.21573730_21573731delCA16040719ALPLc.928_929del (p.Ser310ArgfsTer27)
c.73-2003_73-2002del
c.697_698del (p.Ser233ArgfsTer27)
c.763_764del (p.Ser255ArgfsTer27)
c.928_929del (p.Ser310ArgfsTer?)
c.772_773del (p.Ser258ArgfsTer27)
 ClinVar dbSNP
1g.21573728T>ACA338880297ALPLc.926T>A (p.Leu309His)
c.73-2005T>A
c.695T>A (p.Leu232His)
c.761T>A (p.Leu254His)
c.770T>A (p.Leu257His)
1g.21573728T>CCA338880296ALPLc.926T>C (p.Leu309Pro)
c.73-2005T>C
c.695T>C (p.Leu232Pro)
c.761T>C (p.Leu254Pro)
c.770T>C (p.Leu257Pro)
 gnomAD v4
1g.21573728T>GCA338880298ALPLc.926T>G (p.Leu309Arg)
c.73-2005T>G
c.695T>G (p.Leu232Arg)
c.761T>G (p.Leu254Arg)
c.770T>G (p.Leu257Arg)
1g.21573729C>ACA416532640ALPLc.927C>A (p.Leu309=)
c.73-2004C>A
c.696C>A (p.Leu232=)
c.762C>A (p.Leu254=)
c.771C>A (p.Leu257=)
1g.21573729C=CA1158018342ALPLc.927C= (p.Leu309=)
c.73-2004C=
c.696C= (p.Leu232=)
c.762C= (p.Leu254=)
c.771C= (p.Leu257=)
1g.21573729C>GCA416532641ALPLc.927C>G (p.Leu309=)
c.73-2004C>G
c.696C>G (p.Leu232=)
c.762C>G (p.Leu254=)
c.771C>G (p.Leu257=)
1g.21573729C>TCA666682ALPLc.927C>T (p.Leu309=)
c.73-2004C>T
c.696C>T (p.Leu232=)
c.762C>T (p.Leu254=)
c.771C>T (p.Leu257=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573730T>ACA666683ALPLc.928T>A (p.Ser310Thr)
c.73-2003T>A
c.697T>A (p.Ser233Thr)
c.763T>A (p.Ser255Thr)
c.772T>A (p.Ser258Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.21573730T>CCA338880299ALPLc.928T>C (p.Ser310Pro)
c.73-2003T>C
c.697T>C (p.Ser233Pro)
c.763T>C (p.Ser255Pro)
c.772T>C (p.Ser258Pro)
1g.21573730T>GCA338880300ALPLc.928T>G (p.Ser310Ala)
c.73-2003T>G
c.697T>G (p.Ser233Ala)
c.763T>G (p.Ser255Ala)
c.772T>G (p.Ser258Ala)
1g.21573730T=CA1158018343ALPLc.928T= (p.Ser310=)
c.73-2003T=
c.697T= (p.Ser233=)
c.763T= (p.Ser255=)
c.772T= (p.Ser258=)
1g.21573731C>ACA338880301ALPLc.929C>A (p.Ser310Tyr)
c.73-2002C>A
c.698C>A (p.Ser233Tyr)
c.764C>A (p.Ser255Tyr)
c.773C>A (p.Ser258Tyr)
1g.21573731C>GCA338880302ALPLc.929C>G (p.Ser310Cys)
c.73-2002C>G
c.698C>G (p.Ser233Cys)
c.764C>G (p.Ser255Cys)
c.773C>G (p.Ser258Cys)
1g.21573731C>TCA338880303ALPLc.929C>T (p.Ser310Phe)
c.73-2002C>T
c.698C>T (p.Ser233Phe)
c.764C>T (p.Ser255Phe)
c.773C>T (p.Ser258Phe)
1g.21573732delCA2739272347ALPLc.930del (p.Glu311ArgfsTer?)
c.73-2001del
c.699del (p.Glu234ArgfsTer?)
c.765del (p.Glu256ArgfsTer?)
c.774del (p.Glu259ArgfsTer?)
 ClinVar
1g.21573732C>ACA416532642ALPLc.930C>A (p.Ser310=)
c.73-2001C>A
c.699C>A (p.Ser233=)
c.765C>A (p.Ser255=)
c.774C>A (p.Ser258=)
1g.21573732C=CA1158018344ALPLc.930C= (p.Ser310=)
c.73-2001C=
c.699C= (p.Ser233=)
c.765C= (p.Ser255=)
c.774C= (p.Ser258=)
1g.21573732C>GCA416532643ALPLc.930C>G (p.Ser310=)
c.73-2001C>G
c.699C>G (p.Ser233=)
c.765C>G (p.Ser255=)
c.774C>G (p.Ser258=)
 gnomAD v4
1g.21573732C>TCA666684ALPLc.930C>T (p.Ser310=)
c.73-2001C>T
c.699C>T (p.Ser233=)
c.765C>T (p.Ser255=)
c.774C>T (p.Ser258=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched