Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.1432611_1432613delCA645540815SLC6A3c.509_511del (p.Ser170del)
COSMIC
5g.1432610G>ACA443016230SLC6A3c.507C>T (p.Ser169=)
5g.1432610G>CCA443016231SLC6A3c.507C>G (p.Ser169=)
5g.1432610G>TCA443016232SLC6A3c.507C>A (p.Ser169=)
5g.1432611G>ACA359060828SLC6A3c.506C>T (p.Ser169Phe)
gnomAD v4
5g.1432611G>CCA359060822SLC6A3c.506C>G (p.Ser169Cys)
dbSNP gnomAD v2 gnomAD v4
5g.1432611G=CA1522649876SLC6A3c.506C= (p.Ser169=)
5g.1432611G>TCA359060824SLC6A3c.506C>A (p.Ser169Tyr)
5g.1432612A>CCA359060832SLC6A3c.505T>G (p.Ser169Ala)
5g.1432612A>GCA359060836SLC6A3c.505T>C (p.Ser169Pro)
5g.1432612A>TCA359060839SLC6A3c.505T>A (p.Ser169Thr)
5g.1432613G>ACA443016241SLC6A3c.504C>T (p.Phe168=)
dbSNP
5g.1432613G>CCA359060843SLC6A3c.504C>G (p.Phe168Leu)
5g.1432613G=CA1522649877SLC6A3c.504C= (p.Phe168=)
5g.1432613G>TCA359060845SLC6A3c.504C>A (p.Phe168Leu)
dbSNP gnomAD v2 gnomAD v4
5g.1432614A>CCA359060847SLC6A3c.503T>G (p.Phe168Cys)
5g.1432614A>GCA359060849SLC6A3c.503T>C (p.Phe168Ser)
5g.1432614A>TCA359060852SLC6A3c.503T>A (p.Phe168Tyr)
5g.1432615A>CCA359060856SLC6A3c.502T>G (p.Phe168Val)
5g.1432615A>GCA359060859SLC6A3c.502T>C (p.Phe168Leu)
5g.1432615A>TCA359060861SLC6A3c.502T>A (p.Phe168Ile)
5g.1432616G>ACA3186351SLC6A3c.501C>T (p.Leu167=)
dbSNP ExAC COSMIC
5g.1432616G>CCA443016255SLC6A3c.501C>G (p.Leu167=)
5g.1432616G=CA1522649878SLC6A3c.501C= (p.Leu167=)
5g.1432616G>TCA443016257SLC6A3c.501C>A (p.Leu167=)
5g.1432617A>CCA359060869SLC6A3c.500T>G (p.Leu167Arg)
5g.1432617A>GCA359060871SLC6A3c.500T>C (p.Leu167Pro)
5g.1432617A>TCA359060873SLC6A3c.500T>A (p.Leu167His)
5g.1432618G>ACA3186352SLC6A3c.499C>T (p.Leu167Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.1432618G>CCA359060878SLC6A3c.499C>G (p.Leu167Val)
5g.1432618G=CA1522649879SLC6A3c.499C= (p.Leu167=)
5g.1432618G>TCA359060880SLC6A3c.499C>A (p.Leu167Ile)
gnomAD v4
5g.1432619A=CA1522649880SLC6A3c.498T= (p.Tyr166=)
5g.1432619A>CCA359060883SLC6A3c.498T>G (p.Tyr166Ter)
5g.1432619A>GCA3186353SLC6A3c.498T>C (p.Tyr166=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.1432619A>TCA359060887SLC6A3c.498T>A (p.Tyr166Ter)
5g.1432620T>ACA359060889SLC6A3c.497A>T (p.Tyr166Phe)
5g.1432620T>CCA359060892SLC6A3c.497A>G (p.Tyr166Cys)
5g.1432620T>GCA359060894SLC6A3c.497A>C (p.Tyr166Ser)
5g.1432621A>CCA359060896SLC6A3c.496T>G (p.Tyr166Asp)
5g.1432621A>GCA359060904SLC6A3c.496T>C (p.Tyr166His)
5g.1432621A>TCA359060895SLC6A3c.496T>A (p.Tyr166Asn)
5g.1432622G>ACA112963166SLC6A3c.495C>T (p.His165=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.1432622G>CCA359060906SLC6A3c.495C>G (p.His165Gln)
5g.1432622G=CA1522649881SLC6A3c.495C= (p.His165=)
5g.1432622G>TCA359060908SLC6A3c.495C>A (p.His165Gln)
5g.1432623T>ACA359060910SLC6A3c.494A>T (p.His165Leu)
5g.1432623T>CCA359060912SLC6A3c.494A>G (p.His165Arg)
gnomAD v4
5g.1432623T>GCA359060915SLC6A3c.494A>C (p.His165Pro)
5g.1432624G>ACA359060921SLC6A3c.493C>T (p.His165Tyr)
ClinVar gnomAD v4

Number of alleles fetched