Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.120788677_120788757delCA2695208538TSPAN12c.753_833del (p.Asp251_Leu278delinsGlu)
c.732_812del (n.732_812del)
c.678_758del (p.Asp226_Leu253delinsGlu)
7g.120788708_120788709delCA577561365TSPAN12c.804_805del (p.Gln269AlafsTer19)
c.783_784del (n.783_784del)
c.729_730del (p.Gln244AlafsTer19)
 dbSNP gnomAD v2 gnomAD v4
7g.120788709G>ACA457393539TSPAN12c.801C>T (p.Asn267=)
c.780C>T (n.780C>T)
c.726C>T (p.Asn242=)
7g.120788709G>CCA4453799TSPAN12c.801C>G (p.Asn267Lys)
c.780C>G (n.780C>G)
c.726C>G (p.Asn242Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120788709G=CA1738876290TSPAN12c.801C= (p.Asn267=)
c.780C= (n.780C=)
c.726C= (p.Asn242=)
7g.120788709G>TCA369133499TSPAN12c.801C>A (p.Asn267Lys)
c.780C>A (n.780C>A)
c.726C>A (p.Asn242Lys)
7g.120788710T>ACA369133501TSPAN12c.800A>T (p.Asn267Ile)
c.779A>T (n.779A>T)
c.725A>T (p.Asn242Ile)
7g.120788710T>CCA4453800TSPAN12c.800A>G (p.Asn267Ser)
c.779A>G (n.779A>G)
c.725A>G (p.Asn242Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.120788710T>GCA369133504TSPAN12c.800A>C (p.Asn267Thr)
c.779A>C (n.779A>C)
c.725A>C (p.Asn242Thr)
 gnomAD v3 gnomAD v4
7g.120788710T=CA1738876297TSPAN12c.800A= (p.Asn267=)
c.779A= (n.779A=)
c.725A= (p.Asn242=)
7g.120788711T>ACA369133509TSPAN12c.799A>T (p.Asn267Tyr)
c.778A>T (n.778A>T)
c.724A>T (p.Asn242Tyr)
7g.120788711T>CCA369133506TSPAN12c.799A>G (p.Asn267Asp)
c.778A>G (n.778A>G)
c.724A>G (p.Asn242Asp)
7g.120788711T>GCA369133507TSPAN12c.799A>C (p.Asn267His)
c.778A>C (n.778A>C)
c.724A>C (p.Asn242His)
7g.120788712_120788716delCA2777663991TSPAN12c.795_799del (p.Asn265LysfsTer22)
c.774_778del (n.774_778del)
c.720_724del (p.Asn240LysfsTer22)
7g.120788712G>ACA457393540TSPAN12c.798C>T (p.Asp266=)
c.777C>T (n.777C>T)
c.723C>T (p.Asp241=)
 dbSNP
7g.120788712G>CCA369133510TSPAN12c.798C>G (p.Asp266Glu)
c.777C>G (n.777C>G)
c.723C>G (p.Asp241Glu)
7g.120788712G=CA1738876303TSPAN12c.798C= (p.Asp266=)
c.777C= (n.777C=)
c.723C= (p.Asp241=)
7g.120788712G>TCA369133511TSPAN12c.798C>A (p.Asp266Glu)
c.777C>A (n.777C>A)
c.723C>A (p.Asp241Glu)
7g.120788713T>ACA369133514TSPAN12c.797A>T (p.Asp266Val)
c.776A>T (n.776A>T)
c.722A>T (p.Asp241Val)
7g.120788713T>CCA369133516TSPAN12c.797A>G (p.Asp266Gly)
c.776A>G (n.776A>G)
c.722A>G (p.Asp241Gly)
7g.120788713T>GCA369133518TSPAN12c.797A>C (p.Asp266Ala)
c.776A>C (n.776A>C)
c.722A>C (p.Asp241Ala)
7g.120788714C>ACA369133521TSPAN12c.796G>T (p.Asp266Tyr)
c.775G>T (n.775G>T)
c.721G>T (p.Asp241Tyr)
7g.120788714C>GCA369133522TSPAN12c.796G>C (p.Asp266His)
c.775G>C (n.775G>C)
c.721G>C (p.Asp241His)
7g.120788714C>TCA369133524TSPAN12c.796G>A (p.Asp266Asn)
c.775G>A (n.775G>A)
c.721G>A (p.Asp241Asn)
7g.120788715A>CCA369133526TSPAN12c.795T>G (p.Asn265Lys)
c.774T>G (n.774T>G)
c.720T>G (p.Asn240Lys)
 gnomAD v4
7g.120788715A>GCA457393541TSPAN12c.795T>C (p.Asn265=)
c.774T>C (n.774T>C)
c.720T>C (p.Asn240=)
7g.120788715A>TCA369133528TSPAN12c.795T>A (p.Asn265Lys)
c.774T>A (n.774T>A)
c.720T>A (p.Asn240Lys)
7g.120788716T>ACA369133530TSPAN12c.794A>T (p.Asn265Ile)
c.773A>T (n.773A>T)
c.719A>T (p.Asn240Ile)
7g.120788716T>CCA369133531TSPAN12c.794A>G (p.Asn265Ser)
c.773A>G (n.773A>G)
c.719A>G (p.Asn240Ser)
 gnomAD v4
7g.120788716T>GCA369133533TSPAN12c.794A>C (p.Asn265Thr)
c.773A>C (n.773A>C)
c.719A>C (p.Asn240Thr)
7g.120788717T>ACA369133539TSPAN12c.793A>T (p.Asn265Tyr)
c.772A>T (n.772A>T)
c.718A>T (p.Asn240Tyr)
7g.120788717T>CCA369133537TSPAN12c.793A>G (p.Asn265Asp)
c.772A>G (n.772A>G)
c.718A>G (p.Asn240Asp)
 gnomAD v4
7g.120788717T>GCA369133538TSPAN12c.793A>C (p.Asn265His)
c.772A>C (n.772A>C)
c.718A>C (p.Asn240His)
7g.120788718C>ACA369133542TSPAN12c.792G>T (p.Lys264Asn)
c.771G>T (n.771G>T)
c.717G>T (p.Lys239Asn)
7g.120788718C=CA1738876307TSPAN12c.792G= (p.Lys264=)
c.771G= (n.771G=)
c.717G= (p.Lys239=)
7g.120788718C>GCA369133544TSPAN12c.792G>C (p.Lys264Asn)
c.771G>C (n.771G>C)
c.717G>C (p.Lys239Asn)
7g.120788718C>TCA457393542TSPAN12c.792G>A (p.Lys264=)
c.771G>A (n.771G>A)
c.717G>A (p.Lys239=)
 dbSNP gnomAD v4
7g.120788719T>ACA369133546TSPAN12c.791A>T (p.Lys264Met)
c.770A>T (n.770A>T)
c.716A>T (p.Lys239Met)
7g.120788719T>CCA369133548TSPAN12c.791A>G (p.Lys264Arg)
c.770A>G (n.770A>G)
c.716A>G (p.Lys239Arg)
7g.120788719T>GCA369133550TSPAN12c.791A>C (p.Lys264Thr)
c.770A>C (n.770A>C)
c.716A>C (p.Lys239Thr)
7g.120788720T>ACA369133552TSPAN12c.790A>T (p.Lys264Ter)
c.769A>T (n.769A>T)
c.715A>T (p.Lys239Ter)
7g.120788720T>CCA369133554TSPAN12c.790A>G (p.Lys264Glu)
c.769A>G (n.769A>G)
c.715A>G (p.Lys239Glu)
7g.120788720T>GCA4453801TSPAN12c.790A>C (p.Lys264Gln)
c.769A>C (n.769A>C)
c.715A>C (p.Lys239Gln)
 dbSNP ExAC gnomAD v2
7g.120788720T=CA1738876315TSPAN12c.790A= (p.Lys264=)
c.769A= (n.769A=)
c.715A= (p.Lys239=)
7g.120788720_120788721delinsTCCA1738876317TSPAN12c.789_790delinsGA (p.Leu263=)
c.768_769delinsGA (n.768_769delinsGA)
c.714_715delinsGA (p.Leu238=)
7g.120788721delCA832444387TSPAN12c.789del (p.Lys264ArgfsTer13)
c.768del (n.768del)
c.714del (p.Lys239ArgfsTer13)
 dbSNP gnomAD v3 gnomAD v4
7g.120788721C>ACA369133557TSPAN12c.789G>T (p.Leu263Phe)
c.768G>T (n.768G>T)
c.714G>T (p.Leu238Phe)
7g.120788721C>GCA369133559TSPAN12c.789G>C (p.Leu263Phe)
c.768G>C (n.768G>C)
c.714G>C (p.Leu238Phe)
7g.120788721C>TCA457393612TSPAN12c.789G>A (p.Leu263=)
c.768G>A (n.768G>A)
c.714G>A (p.Leu238=)
7g.120788722A>CCA369133561TSPAN12c.788T>G (p.Leu263Trp)
c.767T>G (n.767T>G)
c.713T>G (p.Leu238Trp)

Number of alleles fetched