Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189571663T>CCA2662329349SLC40A1c.514+52A>G (n.514+52A>G)
c.394+52A>G (n.394+52A>G)
 gnomAD v4
2g.189571665dupCA1315650237SLC40A1c.514+52dup (n.514+52dup)
c.394+52dup (n.394+52dup)
 dbSNP
2g.189571665T>ACA1315650240SLC40A1c.514+50A>T (n.514+50A>T)
c.394+50A>T (n.394+50A>T)
 dbSNP
2g.189571665T=CA1315650238SLC40A1c.514+50A= (n.514+50A=)
c.394+50A= (n.394+50A=)
2g.189571666A=CA1315650243SLC40A1c.514+49T= (n.514+49T=)
c.394+49T= (n.394+49T=)
2g.189571666A>GCA2024213SLC40A1c.514+49T>C (n.514+49T>C)
c.394+49T>C (n.394+49T>C)
 dbSNP ExAC gnomAD v2
2g.189571668delCA2662329350SLC40A1c.514+49del (n.514+49del)
c.394+49del (n.394+49del)
 gnomAD v4
2g.189571670T>GCA2662329351SLC40A1c.514+45A>C (n.514+45A>C)
c.394+45A>C (n.394+45A>C)
 gnomAD v4
2g.189571671G>CCA2519898931SLC40A1c.514+44C>G (n.514+44C>G)
c.394+44C>G (n.394+44C>G)
2g.189571671G>TCA2753593984SLC40A1c.514+44C>A (n.514+44C>A)
c.394+44C>A (n.394+44C>A)
2g.189571674T>CCA538593436SLC40A1c.514+41A>G (n.514+41A>G)
c.394+41A>G (n.394+41A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571674T>GCA2577188113SLC40A1c.514+41A>C (n.514+41A>C)
c.394+41A>C (n.394+41A>C)
2g.189571674T=CA1315650246SLC40A1c.514+41A= (n.514+41A=)
c.394+41A= (n.394+41A=)
2g.189571675C>ACA762274922SLC40A1c.514+40G>T (n.514+40G>T)
c.394+40G>T (n.394+40G>T)
 dbSNP
2g.189571675C=CA1315650247SLC40A1c.514+40G= (n.514+40G=)
c.394+40G= (n.394+40G=)
2g.189571676C=CA1315650249SLC40A1c.514+39G= (n.514+39G=)
c.394+39G= (n.394+39G=)
2g.189571676C>TCA2024214SLC40A1c.514+39G>A (n.514+39G>A)
c.394+39G>A (n.394+39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189571676_189571682dupCA1040450861SLC40A1c.514+33_514+39dup (n.514+33_514+39dup)
c.394+33_394+39dup (n.394+33_394+39dup)
 dbSNP gnomAD v3 gnomAD v4
2g.189571677T>CCA2662329355SLC40A1c.514+38A>G (n.514+38A>G)
c.394+38A>G (n.394+38A>G)
 gnomAD v4
2g.189571680C=CA1315650251SLC40A1c.514+35G= (n.514+35G=)
c.394+35G= (n.394+35G=)
2g.189571680C>TCA538593443SLC40A1c.514+35G>A (n.514+35G>A)
c.394+35G>A (n.394+35G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189571682T>ACA2753593985SLC40A1c.514+33A>T (n.514+33A>T)
c.394+33A>T (n.394+33A>T)
2g.189571682T>CCA762274929SLC40A1c.514+33A>G (n.514+33A>G)
c.394+33A>G (n.394+33A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189571682T=CA1315650254SLC40A1c.514+33A= (n.514+33A=)
c.394+33A= (n.394+33A=)
2g.189571683G>ACA1040450862SLC40A1c.514+32C>T (n.514+32C>T)
c.394+32C>T (n.394+32C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.189571683G=CA1315650256SLC40A1c.514+32C= (n.514+32C=)
c.394+32C= (n.394+32C=)
2g.189571684C>ACA2662329359SLC40A1c.514+31G>T (n.514+31G>T)
c.394+31G>T (n.394+31G>T)
 gnomAD v4
2g.189571684C=CA1315650259SLC40A1c.514+31G= (n.514+31G=)
c.394+31G= (n.394+31G=)
2g.189571684C>TCA538593445SLC40A1c.514+31G>A (n.514+31G>A)
c.394+31G>A (n.394+31G>A)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.189571684_189571689delinsCTCATTCA1315650261SLC40A1c.514+26_514+31delinsAATGAG (n.514+26_514+31delinsAATGAG)
c.394+26_394+31delinsAATGAG (n.394+26_394+31delinsAATGAG)
2g.189571685T>GCA2662329361SLC40A1c.514+30A>C (n.514+30A>C)
c.394+30A>C (n.394+30A>C)
 gnomAD v4
2g.189571690_189571694delCA1315650263SLC40A1c.514+26_514+30del (n.514+26_514+30del)
c.394+26_394+30del (n.394+26_394+30del)
 dbSNP
2g.189571687A=CA1315650264SLC40A1c.514+28T= (n.514+28T=)
c.394+28T= (n.394+28T=)
2g.189571687A>GCA2024215SLC40A1c.514+28T>C (n.514+28T>C)
c.394+28T>C (n.394+28T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571688T>CCA2024216SLC40A1c.514+27A>G (n.514+27A>G)
c.394+27A>G (n.394+27A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571688T=CA1315650267SLC40A1c.514+27A= (n.514+27A=)
c.394+27A= (n.394+27A=)
2g.189571689T>CCA2577188114SLC40A1c.514+26A>G (n.514+26A>G)
c.394+26A>G (n.394+26A>G)
 gnomAD v4
2g.189571690T>ACA2024217SLC40A1c.514+25A>T (n.514+25A>T)
c.394+25A>T (n.394+25A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189571690T>GCA538593453SLC40A1c.514+25A>C (n.514+25A>C)
c.394+25A>C (n.394+25A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571690T=CA1315650274SLC40A1c.514+25A= (n.514+25A=)
c.394+25A= (n.394+25A=)
2g.189571691C>ACA62903698SLC40A1c.514+24G>T (n.514+24G>T)
c.394+24G>T (n.394+24G>T)
 dbSNP gnomAD v4
2g.189571691C=CA1315650277SLC40A1c.514+24G= (n.514+24G=)
c.394+24G= (n.394+24G=)
2g.189571693T>CCA1040450864SLC40A1c.514+22A>G (n.514+22A>G)
c.394+22A>G (n.394+22A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189571693T=CA1315650279SLC40A1c.514+22A= (n.514+22A=)
c.394+22A= (n.394+22A=)
2g.189571694T>CCA2024218SLC40A1c.514+21A>G (n.514+21A>G)
c.394+21A>G (n.394+21A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571694T=CA1315650281SLC40A1c.514+21A= (n.514+21A=)
c.394+21A= (n.394+21A=)
2g.189571695A=CA1315650283SLC40A1c.514+20T= (n.514+20T=)
c.394+20T= (n.394+20T=)
2g.189571695A>CCA2577188115SLC40A1c.514+20T>G (n.514+20T>G)
c.394+20T>G (n.394+20T>G)
2g.189571695A>GCA62903699SLC40A1c.514+20T>C (n.514+20T>C)
c.394+20T>C (n.394+20T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571696A=CA1315650285SLC40A1c.514+19T= (n.514+19T=)
c.394+19T= (n.394+19T=)
2g.189571696A>CCA2024219SLC40A1c.514+19T>G (n.514+19T>G)
c.394+19T>G (n.394+19T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189571699G>ACA1040450866SLC40A1c.514+16C>T (n.514+16C>T)
c.394+16C>T (n.394+16C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.189571699G=CA1315650287SLC40A1c.514+16C= (n.514+16C=)
c.394+16C= (n.394+16C=)
2g.189571701G>ACA2662329372SLC40A1c.514+14C>T (n.514+14C>T)
c.394+14C>T (n.394+14C>T)
 gnomAD v4
2g.189571707C>TCA2577188116SLC40A1c.514+8G>A (n.514+8G>A)
c.394+8G>A (n.394+8G>A)
2g.189571709A=CA1315650292SLC40A1c.514+6T= (n.514+6T=)
c.394+6T= (n.394+6T=)
2g.189571709A>GCA538593463SLC40A1c.514+6T>C (n.514+6T>C)
c.394+6T>C (n.394+6T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571709A>TCA2024220SLC40A1c.514+6T>A (n.514+6T>A)
c.394+6T>A (n.394+6T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571713A>CCA349989035SLC40A1c.514+2T>G (n.514+2T>G)
c.394+2T>G (n.394+2T>G)
2g.189571713A>GCA349989036SLC40A1c.514+2T>C (n.514+2T>C)
c.394+2T>C (n.394+2T>C)
2g.189571713A>TCA349989037SLC40A1c.514+2T>A (n.514+2T>A)
c.394+2T>A (n.394+2T>A)
2g.189571714C>ACA349989038SLC40A1c.514+1G>T (n.514+1G>T)
c.394+1G>T (n.394+1G>T)
2g.189571714C>GCA349989039SLC40A1c.514+1G>C (n.514+1G>C)
c.394+1G>C (n.394+1G>C)
2g.189571714C>TCA349989040SLC40A1c.514+1G>A (n.514+1G>A)
c.394+1G>A (n.394+1G>A)
2g.189571715T>ACA349989041SLC40A1c.514A>T (p.Asn172Tyr)
c.394A>T (p.Asn132Tyr)
2g.189571715T>CCA349989042SLC40A1c.514A>G (p.Asn172Asp)
c.394A>G (p.Asn132Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.189571715T>GCA349989043SLC40A1c.514A>C (p.Asn172His)
c.394A>C (p.Asn132His)
2g.189571715T=CA1315650296SLC40A1c.514A= (p.Asn172=)
c.394A= (p.Asn132=)
2g.189571716T>ACA430367321SLC40A1c.513A>T (p.Ala171=)
c.393A>T (p.Ala131=)
2g.189571716T>CCA430367322SLC40A1c.513A>G (p.Ala171=)
c.393A>G (p.Ala131=)
2g.189571716T>GCA430367323SLC40A1c.513A>C (p.Ala171=)
c.393A>C (p.Ala131=)
2g.189571717G>ACA349989045SLC40A1c.512C>T (p.Ala171Val)
c.392C>T (p.Ala131Val)
2g.189571717G>CCA349989046SLC40A1c.512C>G (p.Ala171Gly)
c.392C>G (p.Ala131Gly)
2g.189571717G>TCA349989044SLC40A1c.512C>A (p.Ala171Glu)
c.392C>A (p.Ala131Glu)
 gnomAD v4
2g.189571718C>ACA349989047SLC40A1c.511G>T (p.Ala171Ser)
c.391G>T (p.Ala131Ser)
2g.189571718C>GCA349989048SLC40A1c.511G>C (p.Ala171Pro)
c.391G>C (p.Ala131Pro)
2g.189571718C>TCA349989049SLC40A1c.511G>A (p.Ala171Thr)
c.391G>A (p.Ala131Thr)
2g.189571719T>ACA430367324SLC40A1c.510A>T (p.Leu170=)
c.390A>T (p.Leu130=)
2g.189571719T>CCA430367325SLC40A1c.510A>G (p.Leu170=)
c.390A>G (p.Leu130=)
2g.189571719T>GCA430367326SLC40A1c.510A>C (p.Leu170=)
c.390A>C (p.Leu130=)
2g.189571720A>CCA349989050SLC40A1c.509T>G (p.Leu170Arg)
c.389T>G (p.Leu130Arg)
2g.189571720A>GCA349989051SLC40A1c.509T>C (p.Leu170Pro)
c.389T>C (p.Leu130Pro)
2g.189571720A>TCA349989052SLC40A1c.509T>A (p.Leu170Gln)
c.389T>A (p.Leu130Gln)
2g.189571721G>ACA430367327SLC40A1c.508C>T (p.Leu170=)
c.388C>T (p.Leu130=)
 dbSNP gnomAD v4
2g.189571721G>CCA349989053SLC40A1c.508C>G (p.Leu170Val)
c.388C>G (p.Leu130Val)
2g.189571721G=CA1315650299SLC40A1c.508C= (p.Leu170=)
c.388C= (p.Leu130=)
2g.189571721G>TCA349989054SLC40A1c.508C>A (p.Leu170Ile)
c.388C>A (p.Leu130Ile)
2g.189571722T>ACA349989055SLC40A1c.507A>T (p.Lys169Asn)
c.387A>T (p.Lys129Asn)
2g.189571722T>CCA430367328SLC40A1c.507A>G (p.Lys169=)
c.387A>G (p.Lys129=)
 dbSNP
2g.189571722T>GCA349989056SLC40A1c.507A>C (p.Lys169Asn)
c.387A>C (p.Lys129Asn)
2g.189571722T=CA1315650304SLC40A1c.507A= (p.Lys169=)
c.387A= (p.Lys129=)
2g.189571723T>ACA349989057SLC40A1c.506A>T (p.Lys169Ile)
c.386A>T (p.Lys129Ile)
2g.189571723T>CCA349989058SLC40A1c.506A>G (p.Lys169Arg)
c.386A>G (p.Lys129Arg)
2g.189571723T>GCA349989059SLC40A1c.506A>C (p.Lys169Thr)
c.386A>C (p.Lys129Thr)
 gnomAD v4
2g.189571724T>ACA349989060SLC40A1c.505A>T (p.Lys169Ter)
c.385A>T (p.Lys129Ter)
2g.189571724T>CCA349989061SLC40A1c.505A>G (p.Lys169Glu)
c.385A>G (p.Lys129Glu)
2g.189571724T>GCA2024221SLC40A1c.505A>C (p.Lys169Gln)
c.385A>C (p.Lys129Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571724T=CA1315650310SLC40A1c.505A= (p.Lys169=)
c.385A= (p.Lys129=)
2g.189571725G>ACA430367329SLC40A1c.504C>T (p.Ser168=)
c.384C>T (p.Ser128=)
2g.189571725G>CCA349989062SLC40A1c.504C>G (p.Ser168Arg)
c.384C>G (p.Ser128Arg)
 gnomAD v4
2g.189571725G>TCA349989063SLC40A1c.504C>A (p.Ser168Arg)
c.384C>A (p.Ser128Arg)
2g.189571726C>ACA349989064SLC40A1c.503G>T (p.Ser168Ile)
c.383G>T (p.Ser128Ile)
2g.189571726C>GCA349989066SLC40A1c.503G>C (p.Ser168Thr)
c.383G>C (p.Ser128Thr)
2g.189571726C>TCA349989065SLC40A1c.503G>A (p.Ser168Asn)
c.383G>A (p.Ser128Asn)
2g.189571727T>ACA349989067SLC40A1c.502A>T (p.Ser168Cys)
c.382A>T (p.Ser128Cys)
2g.189571727T>CCA349989068SLC40A1c.502A>G (p.Ser168Gly)
c.382A>G (p.Ser128Gly)
2g.189571727T>GCA349989069SLC40A1c.502A>C (p.Ser168Arg)
c.382A>C (p.Ser128Arg)
2g.189571728T>ACA349989070SLC40A1c.501A>T (p.Arg167Ser)
c.381A>T (p.Arg127Ser)
2g.189571728T>CCA430367330SLC40A1c.501A>G (p.Arg167=)
c.381A>G (p.Arg127=)
 dbSNP
2g.189571728T>GCA349989071SLC40A1c.501A>C (p.Arg167Ser)
c.381A>C (p.Arg127Ser)
2g.189571728T=CA1315650315SLC40A1c.501A= (p.Arg167=)
c.381A= (p.Arg127=)
2g.189571729C>ACA349989072SLC40A1c.500G>T (p.Arg167Ile)
c.380G>T (p.Arg127Ile)
2g.189571729C=CA1315650319SLC40A1c.500G= (p.Arg167=)
c.380G= (p.Arg127=)
2g.189571729C>GCA349989073SLC40A1c.500G>C (p.Arg167Thr)
c.380G>C (p.Arg127Thr)
2g.189571729C>TCA2024222SLC40A1c.500G>A (p.Arg167Lys)
c.380G>A (p.Arg127Lys)
 dbSNP ExAC
2g.189571730T>ACA349989074SLC40A1c.499A>T (p.Arg167Ter)
c.379A>T (p.Arg127Ter)
2g.189571730T>CCA349989075SLC40A1c.499A>G (p.Arg167Gly)
c.379A>G (p.Arg127Gly)
2g.189571730T>GCA430367331SLC40A1c.499A>C (p.Arg167=)
c.379A>C (p.Arg127=)
2g.189571731G>ACA430367332SLC40A1c.498C>T (p.Asp166=)
c.378C>T (p.Asp126=)
 dbSNP gnomAD v4
2g.189571731G>CCA349989076SLC40A1c.498C>G (p.Asp166Glu)
c.378C>G (p.Asp126Glu)
2g.189571731G=CA1315650322SLC40A1c.498C= (p.Asp166=)
c.378C= (p.Asp126=)
2g.189571731G>TCA349989077SLC40A1c.498C>A (p.Asp166Glu)
c.378C>A (p.Asp126Glu)
2g.189571732T>ACA349989078SLC40A1c.497A>T (p.Asp166Val)
c.377A>T (p.Asp126Val)
2g.189571732T>CCA349989079SLC40A1c.497A>G (p.Asp166Gly)
c.377A>G (p.Asp126Gly)
2g.189571732T>GCA349989080SLC40A1c.497A>C (p.Asp166Ala)
c.377A>C (p.Asp126Ala)
2g.189571733C>ACA349989081SLC40A1c.496G>T (p.Asp166Tyr)
c.376G>T (p.Asp126Tyr)
2g.189571733C>GCA349989083SLC40A1c.496G>C (p.Asp166His)
c.376G>C (p.Asp126His)
2g.189571733C>TCA349989082SLC40A1c.496G>A (p.Asp166Asn)
c.376G>A (p.Asp126Asn)
 gnomAD v4 COSMIC
2g.189571734T>ACA349989084SLC40A1c.495A>T (p.Glu165Asp)
c.375A>T (p.Glu125Asp)
2g.189571734T>CCA430367333SLC40A1c.495A>G (p.Glu165=)
c.375A>G (p.Glu125=)
 gnomAD v4
2g.189571734T>GCA349989085SLC40A1c.495A>C (p.Glu165Asp)
c.375A>C (p.Glu125Asp)
2g.189571735T>ACA349989086SLC40A1c.494A>T (p.Glu165Val)
c.374A>T (p.Glu125Val)
2g.189571735T>CCA349989087SLC40A1c.494A>G (p.Glu165Gly)
c.374A>G (p.Glu125Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189571735T>GCA349989088SLC40A1c.494A>C (p.Glu165Ala)
c.374A>C (p.Glu125Ala)
2g.189571735T=CA1315650324SLC40A1c.494A= (p.Glu165=)
c.374A= (p.Glu125=)
2g.189571736C>ACA349989089SLC40A1c.493G>T (p.Glu165Ter)
c.373G>T (p.Glu125Ter)
2g.189571736C>GCA349989090SLC40A1c.493G>C (p.Glu165Gln)
c.373G>C (p.Glu125Gln)
2g.189571736C>TCA349989091SLC40A1c.493G>A (p.Glu165Lys)
c.373G>A (p.Glu125Lys)
2g.189571738_189571740delCA2662329399SLC40A1c.491_493del (p.Gly164del)
c.371_373del (p.Gly124del)
 gnomAD v4
2g.189571737T>ACA430367334SLC40A1c.492A>T (p.Gly164=)
c.372A>T (p.Gly124=)
2g.189571737T>CCA430367336SLC40A1c.492A>G (p.Gly164=)
c.372A>G (p.Gly124=)
 dbSNP
2g.189571737T>GCA430367335SLC40A1c.492A>C (p.Gly164=)
c.372A>C (p.Gly124=)
2g.189571737T=CA1315650327SLC40A1c.492A= (p.Gly164=)
c.372A= (p.Gly124=)
2g.189571738C>ACA349989092SLC40A1c.491G>T (p.Gly164Val)
c.371G>T (p.Gly124Val)
2g.189571738C>GCA349989093SLC40A1c.491G>C (p.Gly164Ala)
c.371G>C (p.Gly124Ala)
2g.189571738C>TCA349989094SLC40A1c.491G>A (p.Gly164Glu)
c.371G>A (p.Gly124Glu)
2g.189571739C>ACA349989095SLC40A1c.490G>T (p.Gly164Ter)
c.370G>T (p.Gly124Ter)
2g.189571739C=CA1315650329SLC40A1c.490G= (p.Gly164=)
c.370G= (p.Gly124=)
2g.189571739C>GCA349989096SLC40A1c.490G>C (p.Gly164Arg)
c.370G>C (p.Gly124Arg)
2g.189571739C>TCA2024223SLC40A1c.490G>A (p.Gly164Arg)
c.370G>A (p.Gly124Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571740T>ACA430367337SLC40A1c.489A>T (p.Ala163=)
c.369A>T (p.Ala123=)
2g.189571740T>CCA430367338SLC40A1c.489A>G (p.Ala163=)
c.369A>G (p.Ala123=)
2g.189571740T>GCA430367339SLC40A1c.489A>C (p.Ala163=)
c.369A>C (p.Ala123=)
2g.189571741G>ACA349989097SLC40A1c.488C>T (p.Ala163Val)
c.368C>T (p.Ala123Val)
2g.189571741G>CCA2024224SLC40A1c.488C>G (p.Ala163Gly)
c.368C>G (p.Ala123Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571741G=CA1315650332SLC40A1c.488C= (p.Ala163=)
c.368C= (p.Ala123=)
2g.189571741G>TCA349989098SLC40A1c.488C>A (p.Ala163Glu)
c.368C>A (p.Ala123Glu)
2g.189571741_189571744delinsGCAACA1315650334SLC40A1c.485_488delinsTTGC (p.Val162=)
c.365_368delinsTTGC (p.Val122=)
2g.189571742C>ACA349989099SLC40A1c.487G>T (p.Ala163Ser)
c.367G>T (p.Ala123Ser)
2g.189571742C>GCA349989100SLC40A1c.487G>C (p.Ala163Pro)
c.367G>C (p.Ala123Pro)
2g.189571742C>TCA349989101SLC40A1c.487G>A (p.Ala163Thr)
c.367G>A (p.Ala123Thr)
2g.189571751_189571753dupCA10581909SLC40A1c.485_487dup (p.Val162_Ala163insVal)
c.365_367dup (p.Val122_Ala123insVal)
 ClinVar dbSNP
2g.189571751_189571753delCA762274984SLC40A1c.485_487del (p.Val162del)
c.365_367del (p.Val122del)
 ClinVar dbSNP gnomAD v4
2g.189571743A>CCA430367340SLC40A1c.486T>G (p.Val162=)
c.366T>G (p.Val122=)
2g.189571743A>GCA430367341SLC40A1c.486T>C (p.Val162=)
c.366T>C (p.Val122=)
2g.189571743A>TCA430367342SLC40A1c.486T>A (p.Val162=)
c.366T>A (p.Val122=)
 gnomAD v4
2g.189571744A>CCA349989102SLC40A1c.485T>G (p.Val162Gly)
c.365T>G (p.Val122Gly)
2g.189571744A>GCA349989103SLC40A1c.485T>C (p.Val162Ala)
c.365T>C (p.Val122Ala)
2g.189571744A>TCA349989104SLC40A1c.485T>A (p.Val162Asp)
c.365T>A (p.Val122Asp)
2g.189571745C>ACA349989107SLC40A1c.484G>T (p.Val162Phe)
c.364G>T (p.Val122Phe)
2g.189571745C>GCA349989106SLC40A1c.484G>C (p.Val162Leu)
c.364G>C (p.Val122Leu)
2g.189571745C>TCA349989105SLC40A1c.484G>A (p.Val162Ile)
c.364G>A (p.Val122Ile)
 ClinVar
2g.189571746A>CCA430367345SLC40A1c.483T>G (p.Val161=)
c.363T>G (p.Val121=)
2g.189571746A>GCA430367344SLC40A1c.483T>C (p.Val161=)
c.363T>C (p.Val121=)
2g.189571746A>TCA430367343SLC40A1c.483T>A (p.Val161=)
c.363T>A (p.Val121=)
2g.189571747A>CCA349989108SLC40A1c.482T>G (p.Val161Gly)
c.362T>G (p.Val121Gly)
2g.189571747A>GCA349989109SLC40A1c.482T>C (p.Val161Ala)
c.362T>C (p.Val121Ala)
 gnomAD v4
2g.189571747A>TCA349989110SLC40A1c.482T>A (p.Val161Asp)
c.362T>A (p.Val121Asp)
2g.189571748delCA2753593986SLC40A1c.481del (p.Val161LeufsTer10)
c.361del (p.Val121LeufsTer10)
2g.189571748C>ACA349989111SLC40A1c.481G>T (p.Val161Phe)
c.361G>T (p.Val121Phe)
2g.189571748C>GCA349989112SLC40A1c.481G>C (p.Val161Leu)
c.361G>C (p.Val121Leu)
2g.189571748C>TCA349989113SLC40A1c.481G>A (p.Val161Ile)
c.361G>A (p.Val121Ile)
 gnomAD v4
2g.189571749A>CCA430367348SLC40A1c.480T>G (p.Val160=)
c.360T>G (p.Val120=)
2g.189571749A>GCA430367347SLC40A1c.480T>C (p.Val160=)
c.360T>C (p.Val120=)
2g.189571749A>TCA430367346SLC40A1c.480T>A (p.Val160=)
c.360T>A (p.Val120=)
2g.189571750A=CA1315650345SLC40A1c.479T= (p.Val160=)
c.359T= (p.Val120=)
2g.189571750A>CCA349989114SLC40A1c.479T>G (p.Val160Gly)
c.359T>G (p.Val120Gly)
2g.189571750A>GCA349989115SLC40A1c.479T>C (p.Val160Ala)
c.359T>C (p.Val120Ala)
 ClinVar dbSNP
2g.189571750A>TCA349989116SLC40A1c.479T>A (p.Val160Asp)
c.359T>A (p.Val120Asp)
2g.189571751C>ACA349989117SLC40A1c.478G>T (p.Val160Phe)
c.358G>T (p.Val120Phe)
 ClinVar dbSNP
2g.189571751C>GCA349989118SLC40A1c.478G>C (p.Val160Leu)
c.358G>C (p.Val120Leu)
2g.189571751C>TCA349989119SLC40A1c.478G>A (p.Val160Ile)
c.358G>A (p.Val120Ile)
2g.189571752A>CCA349989120SLC40A1c.477T>G (p.Ile159Met)
c.357T>G (p.Ile119Met)
2g.189571752A>GCA430367350SLC40A1c.477T>C (p.Ile159=)
c.357T>C (p.Ile119=)
2g.189571752A>TCA430367349SLC40A1c.477T>A (p.Ile159=)
c.357T>A (p.Ile119=)
2g.189571753delCA2532395732SLC40A1c.477del (p.Ile159MetfsTer12)
c.357del (p.Ile119MetfsTer12)
2g.189571753A=CA1315650348SLC40A1c.476T= (p.Ile159=)
c.356T= (p.Ile119=)
2g.189571753A>CCA349989122SLC40A1c.476T>G (p.Ile159Ser)
c.356T>G (p.Ile119Ser)
2g.189571753A>GCA349989121SLC40A1c.476T>C (p.Ile159Thr)
c.356T>C (p.Ile119Thr)
 dbSNP
2g.189571753A>TCA349989123SLC40A1c.476T>A (p.Ile159Asn)
c.356T>A (p.Ile119Asn)
2g.189571754T>ACA349989124SLC40A1c.475A>T (p.Ile159Phe)
c.355A>T (p.Ile119Phe)
2g.189571754T>CCA2024225SLC40A1c.475A>G (p.Ile159Val)
c.355A>G (p.Ile119Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189571754T>GCA349989125SLC40A1c.475A>C (p.Ile159Leu)
c.355A>C (p.Ile119Leu)
2g.189571754T=CA1315650350SLC40A1c.475A= (p.Ile159=)
c.355A= (p.Ile119=)
2g.189571755C>ACA349989126SLC40A1c.474G>T (p.Trp158Cys)
c.354G>T (p.Trp118Cys)
 ClinVar dbSNP COSMIC
2g.189571755C=CA1315650357SLC40A1c.474G= (p.Trp158=)
c.354G= (p.Trp118=)
2g.189571755C>GCA349989127SLC40A1c.474G>C (p.Trp158Cys)
c.354G>C (p.Trp118Cys)
2g.189571755C>TCA349989128SLC40A1c.474G>A (p.Trp158Ter)
c.354G>A (p.Trp118Ter)
2g.189571756C>ACA215960SLC40A1c.473G>T (p.Trp158Leu)
c.353G>T (p.Trp118Leu)
 ClinVar dbSNP
2g.189571756C=CA1315650362SLC40A1c.473G= (p.Trp158=)
c.353G= (p.Trp118=)
2g.189571756C>GCA349989129SLC40A1c.473G>C (p.Trp158Ser)
c.353G>C (p.Trp118Ser)
2g.189571756C>TCA349989130SLC40A1c.473G>A (p.Trp158Ter)
c.353G>A (p.Trp118Ter)
 gnomAD v4
2g.189571756_189571819delinsCAATCCCTTTGGATTGTGATTGCAGTAGCAGTACTGGCCAAATTTGCAATATTTGCAATAGTGACA1315650365SLC40A1c.410_473delinsTCACTATTGCAAATATTGCAAATTTGGCCAGTACTGCTACTGCAATCACAATCCAAAGGGATTG (p.Ile137=)
c.290_353delinsTCACTATTGCAAATATTGCAAATTTGGCCAGTACTGCTACTGCAATCACAATCCAAAGGGATTG (p.Ile97=)
2g.189571757A>CCA349989131SLC40A1c.472T>G (p.Trp158Gly)
c.352T>G (p.Trp118Gly)
2g.189571757A>GCA349989132SLC40A1c.472T>C (p.Trp158Arg)
c.352T>C (p.Trp118Arg)
2g.189571757A>TCA349989133SLC40A1c.472T>A (p.Trp158Arg)
c.352T>A (p.Trp118Arg)
2g.189571757_189571819delCA916735262SLC40A1c.410_472del (p.Ile137_Trp158delinsArg)
c.290_352del (p.Ile97_Trp118delinsArg)
 dbSNP gnomAD v4
2g.189571758A=CA1315650372SLC40A1c.471T= (p.Asp157=)
c.351T= (p.Asp117=)
2g.189571758A>CCA349989135SLC40A1c.471T>G (p.Asp157Glu)
c.351T>G (p.Asp117Glu)
2g.189571758A>GCA2024226SLC40A1c.471T>C (p.Asp157=)
c.351T>C (p.Asp117=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.189571758A>TCA349989134SLC40A1c.471T>A (p.Asp157Glu)
c.351T>A (p.Asp117Glu)
2g.189571759T>ACA349989136SLC40A1c.470A>T (p.Asp157Val)
c.350A>T (p.Asp117Val)
 dbSNP
2g.189571759T>CCA117519SLC40A1c.470A>G (p.Asp157Gly)
c.350A>G (p.Asp117Gly)
 ClinVar dbSNP
2g.189571759T>GCA349989137SLC40A1c.470A>C (p.Asp157Ala)
c.350A>C (p.Asp117Ala)
2g.189571759T=CA1315650379SLC40A1c.470A= (p.Asp157=)
c.350A= (p.Asp117=)
2g.189571760C>ACA349989138SLC40A1c.469G>T (p.Asp157Tyr)
c.349G>T (p.Asp117Tyr)
2g.189571760C=CA1315650382SLC40A1c.469G= (p.Asp157=)
c.349G= (p.Asp117=)
2g.189571760C>GCA349989139SLC40A1c.469G>C (p.Asp157His)
c.349G>C (p.Asp117His)
2g.189571760C>TCA349989140SLC40A1c.469G>A (p.Asp157Asn)
c.349G>A (p.Asp117Asn)
 dbSNP
2g.189571761C>ACA349989141SLC40A1c.468G>T (p.Arg156Ser)
c.348G>T (p.Arg116Ser)
2g.189571761C=CA1315650386SLC40A1c.468G= (p.Arg156=)
c.348G= (p.Arg116=)
2g.189571761C>GCA349989142SLC40A1c.468G>C (p.Arg156Ser)
c.348G>C (p.Arg116Ser)
2g.189571761C>TCA430367351SLC40A1c.468G>A (p.Arg156=)
c.348G>A (p.Arg116=)
 dbSNP gnomAD v4
2g.189571762C>ACA349989143SLC40A1c.467G>T (p.Arg156Met)
c.347G>T (p.Arg116Met)
2g.189571762C=CA1315650390SLC40A1c.467G= (p.Arg156=)
c.347G= (p.Arg116=)
2g.189571762C>GCA349989144SLC40A1c.467G>C (p.Arg156Thr)
c.347G>C (p.Arg116Thr)
2g.189571762C>TCA349989145SLC40A1c.467G>A (p.Arg156Lys)
c.347G>A (p.Arg116Lys)
 dbSNP
2g.189571763T>ACA349989147SLC40A1c.466A>T (p.Arg156Trp)
c.346A>T (p.Arg116Trp)
2g.189571763T>CCA349989146SLC40A1c.466A>G (p.Arg156Gly)
c.346A>G (p.Arg116Gly)
2g.189571763T>GCA430367352SLC40A1c.466A>C (p.Arg156=)
c.346A>C (p.Arg116=)

Number of alleles fetched