Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.135798027A>CCA348590811LCTc.4976+2T>G (n.4976+2T>G)
c.3069+2T>G (n.3069+2T>G)
2g.135798027A>GCA348590812LCTc.4976+2T>C (n.4976+2T>C)
c.3069+2T>C (n.3069+2T>C)
2g.135798027A>TCA348590813LCTc.4976+2T>A (n.4976+2T>A)
c.3069+2T>A (n.3069+2T>A)
 gnomAD v4
2g.135798027dupCA2528671300LCTc.4976+2dup (n.4976+2dup)
c.3069+2dup (n.3069+2dup)
2g.135798028C>ACA348590814LCTc.4976+1G>T (n.4976+1G>T)
c.3069+1G>T (n.3069+1G>T)
 ClinVar
2g.135798028C>GCA348590815LCTc.4976+1G>C (n.4976+1G>C)
c.3069+1G>C (n.3069+1G>C)
2g.135798028C>TCA348590816LCTc.4976+1G>A (n.4976+1G>A)
c.3069+1G>A (n.3069+1G>A)
 gnomAD v4
2g.135798028_135798038delinsCCGAGACTTGTCA1290826505LCTc.4967_4976+1delinsACAAGTCTCGG
c.3060_3069+1delinsACAAGTCTCGG
2g.135798029C>ACA348590818LCTc.4976G>T (p.Arg1659Leu)
c.3069G>T (n.3069G>T)
2g.135798029C=CA1290826507LCTc.4976G= (p.Arg1659=)
c.3069G= (n.3069G=)
2g.135798029C>GCA348590819LCTc.4976G>C (p.Arg1659Pro)
c.3069G>C (n.3069G>C)
2g.135798029C>TCA348590817LCTc.4976G>A (p.Arg1659Gln)
c.3069G>A (n.3069G>A)
 dbSNP gnomAD v4 COSMIC
2g.135798029_135798038delCA1290826506LCTc.4967_4976del (p.Asn1656SerfsTer?)
c.3060_3069del (n.3060_3069del)
 ClinVar dbSNP gnomAD v4
2g.135798030G>ACA1887728LCTc.4975C>T (p.Arg1659Trp)
c.3068C>T (n.3068C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.135798030G>CCA348590820LCTc.4975C>G (p.Arg1659Gly)
c.3068C>G (n.3068C>G)
2g.135798030G=CA1290826508LCTc.4975C= (p.Arg1659=)
c.3068C= (n.3068C=)
2g.135798030G>TCA429086136LCTc.4975C>A (p.Arg1659=)
c.3068C>A (n.3068C>A)
 gnomAD v4
2g.135798031A>CCA429086137LCTc.4974T>G (p.Ser1658=)
c.3067T>G (n.3067T>G)
2g.135798031A>GCA429086138LCTc.4974T>C (p.Ser1658=)
c.3067T>C (n.3067T>C)
2g.135798031A>TCA429086140LCTc.4974T>A (p.Ser1658=)
c.3067T>A (n.3067T>A)
2g.135798032G>ACA348590821LCTc.4973C>T (p.Ser1658Phe)
c.3066C>T (n.3066C>T)
2g.135798032G>CCA348590822LCTc.4973C>G (p.Ser1658Cys)
c.3066C>G (n.3066C>G)
2g.135798032G>TCA348590823LCTc.4973C>A (p.Ser1658Tyr)
c.3066C>A (n.3066C>A)
 gnomAD v4
2g.135798033A>CCA348590826LCTc.4972T>G (p.Ser1658Ala)
c.3065T>G (n.3065T>G)
2g.135798033A>GCA348590824LCTc.4972T>C (p.Ser1658Pro)
c.3065T>C (n.3065T>C)
2g.135798033A>TCA348590825LCTc.4972T>A (p.Ser1658Thr)
c.3065T>A (n.3065T>A)
2g.135798034C>ACA1887729LCTc.4971G>T (p.Lys1657Asn)
c.3064G>T (n.3064G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.135798034C=CA1290826509LCTc.4971G= (p.Lys1657=)
c.3064G= (n.3064G=)
2g.135798034C>GCA348590827LCTc.4971G>C (p.Lys1657Asn)
c.3064G>C (n.3064G>C)
2g.135798034C>TCA429086142LCTc.4971G>A (p.Lys1657=)
c.3064G>A (n.3064G>A)
2g.135798035T>ACA348590828LCTc.4970A>T (p.Lys1657Met)
c.3063A>T (n.3063A>T)
2g.135798035T>CCA348590829LCTc.4970A>G (p.Lys1657Arg)
c.3063A>G (n.3063A>G)
2g.135798035T>GCA348590830LCTc.4970A>C (p.Lys1657Thr)
c.3063A>C (n.3063A>C)
2g.135798036T>ACA348590833LCTc.4969A>T (p.Lys1657Ter)
c.3062A>T (n.3062A>T)
2g.135798036T>CCA348590832LCTc.4969A>G (p.Lys1657Glu)
c.3062A>G (n.3062A>G)
2g.135798036T>GCA348590831LCTc.4969A>C (p.Lys1657Gln)
c.3062A>C (n.3062A>C)
2g.135798037G>ACA429086144LCTc.4968C>T (p.Asn1656=)
c.3061C>T (n.3061C>T)
2g.135798037G>CCA1887730LCTc.4968C>G (p.Asn1656Lys)
c.3061C>G (n.3061C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.135798037G=CA1290826510LCTc.4968C= (p.Asn1656=)
c.3061C= (n.3061C=)
2g.135798037G>TCA348590834LCTc.4968C>A (p.Asn1656Lys)
c.3061C>A (n.3061C>A)
 gnomAD v4
2g.135798038T>ACA348590835LCTc.4967A>T (p.Asn1656Ile)
c.3060A>T (n.3060A>T)
2g.135798038T>CCA348590836LCTc.4967A>G (p.Asn1656Ser)
c.3060A>G (n.3060A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.135798038T>GCA348590837LCTc.4967A>C (p.Asn1656Thr)
c.3060A>C (n.3060A>C)
2g.135798038T=CA1290826511LCTc.4967A= (p.Asn1656=)
c.3060A= (n.3060A=)
2g.135798039T>ACA348590838LCTc.4966A>T (p.Asn1656Tyr)
c.3059A>T (n.3059A>T)
2g.135798039T>CCA348590839LCTc.4966A>G (p.Asn1656Asp)
c.3059A>G (n.3059A>G)
2g.135798039T>GCA348590840LCTc.4966A>C (p.Asn1656His)
c.3059A>C (n.3059A>C)
2g.135798040G>ACA429086145LCTc.4965C>T (p.Leu1655=)
c.3058C>T (n.3058C>T)
 gnomAD v4
2g.135798040G>CCA429086146LCTc.4965C>G (p.Leu1655=)
c.3058C>G (n.3058C>G)
2g.135798040G>TCA429086148LCTc.4965C>A (p.Leu1655=)
c.3058C>A (n.3058C>A)

Number of alleles fetched