Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.4417963_4417994delCA2664206502SUMF1c.725+18_725+49del (n.725+18_725+49del)
c.650+18_650+49del (n.650+18_650+49del)
c.445-7014_445-6983del (n.445-7014_445-6983del)
 gnomAD v4
3g.4417980T>CCA2577493083SUMF1c.725+30A>G (n.725+30A>G)
c.650+30A>G (n.650+30A>G)
c.445-7002A>G (n.445-7002A>G)
3g.4417980T>GCA1044559713SUMF1c.725+30A>C (n.725+30A>C)
c.650+30A>C (n.650+30A>C)
c.445-7002A>C (n.445-7002A>C)
 dbSNP gnomAD v3 gnomAD v4
3g.4417980T=CA1342154115SUMF1c.725+30A= (n.725+30A=)
c.650+30A= (n.650+30A=)
c.445-7002A= (n.445-7002A=)
3g.4417981T>CCA2664206509SUMF1c.725+29A>G (n.725+29A>G)
c.650+29A>G (n.650+29A>G)
c.445-7003A>G (n.445-7003A>G)
 gnomAD v4
3g.4417982G=CA1342154116SUMF1c.725+28C= (n.725+28C=)
c.650+28C= (n.650+28C=)
c.445-7004C= (n.445-7004C=)
3g.4417982G>TCA68802656SUMF1c.725+28C>A (n.725+28C>A)
c.650+28C>A (n.650+28C>A)
c.445-7004C>A (n.445-7004C>A)
 dbSNP gnomAD v3 gnomAD v4
3g.4417984C>ACA2664206510SUMF1c.725+26G>T (n.725+26G>T)
c.650+26G>T (n.650+26G>T)
c.445-7006G>T (n.445-7006G>T)
 gnomAD v4
3g.4417986G>ACA2230479SUMF1c.725+24C>T (n.725+24C>T)
c.650+24C>T (n.650+24C>T)
c.445-7008C>T (n.445-7008C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4417986G=CA1342154118SUMF1c.725+24C= (n.725+24C=)
c.650+24C= (n.650+24C=)
c.445-7008C= (n.445-7008C=)
3g.4417987G>ACA540800622SUMF1c.725+23C>T (n.725+23C>T)
c.650+23C>T (n.650+23C>T)
c.445-7009C>T (n.445-7009C>T)
 gnomAD v2
3g.4417987G>CCA2230481SUMF1c.725+23C>G (n.725+23C>G)
c.650+23C>G (n.650+23C>G)
c.445-7009C>G (n.445-7009C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4417987G=CA1342154120SUMF1c.725+23C= (n.725+23C=)
c.650+23C= (n.650+23C=)
c.445-7009C= (n.445-7009C=)
3g.4417987G>TCA2755048865SUMF1c.725+23C>A (n.725+23C>A)
c.650+23C>A (n.650+23C>A)
c.445-7009C>A (n.445-7009C>A)
3g.4417987_4417988delinsGCCA1342154121SUMF1c.725+22_725+23delinsGC (n.725+22_725+23delinsGC)
c.650+22_650+23delinsGC (n.650+22_650+23delinsGC)
c.445-7010_445-7009delinsGC (n.445-7010_445-7009delinsGC)
3g.4417988delCA2230480SUMF1c.725+22del (n.725+22del)
c.650+22del (n.650+22del)
c.445-7010del (n.445-7010del)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4417988C=CA1342154123SUMF1c.725+22G= (n.725+22G=)
c.650+22G= (n.650+22G=)
c.445-7010G= (n.445-7010G=)
3g.4417988C>GCA2664206511SUMF1c.725+22G>C (n.725+22G>C)
c.650+22G>C (n.650+22G>C)
c.445-7010G>C (n.445-7010G>C)
 gnomAD v4
3g.4417988C>TCA540800631SUMF1c.725+22G>A (n.725+22G>A)
c.650+22G>A (n.650+22G>A)
c.445-7010G>A (n.445-7010G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.4417991A=CA1342154125SUMF1c.725+19T= (n.725+19T=)
c.650+19T= (n.650+19T=)
c.445-7013T= (n.445-7013T=)
3g.4417991A>GCA1342154124SUMF1c.725+19T>C (n.725+19T>C)
c.650+19T>C (n.650+19T>C)
c.445-7013T>C (n.445-7013T>C)
 dbSNP
3g.4417993delCA2697550631SUMF1c.725+17del (n.725+17del)
c.650+17del (n.650+17del)
c.445-7015del (n.445-7015del)
 ClinVar
3g.4417993T>CCA540800633SUMF1c.725+17A>G (n.725+17A>G)
c.650+17A>G (n.650+17A>G)
c.445-7015A>G (n.445-7015A>G)
 dbSNP gnomAD v2 gnomAD v4
3g.4417993T>GCA2664206512SUMF1c.725+17A>C (n.725+17A>C)
c.650+17A>C (n.650+17A>C)
c.445-7015A>C (n.445-7015A>C)
 ClinVar gnomAD v4
3g.4417993T=CA1342154127SUMF1c.725+17A= (n.725+17A=)
c.650+17A= (n.650+17A=)
c.445-7015A= (n.445-7015A=)
3g.4417994G>ACA1044559719SUMF1c.725+16C>T (n.725+16C>T)
c.650+16C>T (n.650+16C>T)
c.445-7016C>T (n.445-7016C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.4417994G=CA1342154128SUMF1c.725+16C= (n.725+16C=)
c.650+16C= (n.650+16C=)
c.445-7016C= (n.445-7016C=)
3g.4417994G>TCA2664206513SUMF1c.725+16C>A (n.725+16C>A)
c.650+16C>A (n.650+16C>A)
c.445-7016C>A (n.445-7016C>A)
 gnomAD v4
3g.4417995A=CA1342154131SUMF1c.725+15T= (n.725+15T=)
c.650+15T= (n.650+15T=)
c.445-7017T= (n.445-7017T=)
3g.4417995A>GCA68802707SUMF1c.725+15T>C (n.725+15T>C)
c.650+15T>C (n.650+15T>C)
c.445-7017T>C (n.445-7017T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.4417996G>ACA2230482SUMF1c.725+14C>T (n.725+14C>T)
c.650+14C>T (n.650+14C>T)
c.445-7018C>T (n.445-7018C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4417996G=CA1342154134SUMF1c.725+14C= (n.725+14C=)
c.650+14C= (n.650+14C=)
c.445-7018C= (n.445-7018C=)
3g.4417997A=CA1342154136SUMF1c.725+13T= (n.725+13T=)
c.650+13T= (n.650+13T=)
c.445-7019T= (n.445-7019T=)
3g.4417997A>GCA540800635SUMF1c.725+13T>C (n.725+13T>C)
c.650+13T>C (n.650+13T>C)
c.445-7019T>C (n.445-7019T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.4417998T>CCA2664206514SUMF1c.725+12A>G (n.725+12A>G)
c.650+12A>G (n.650+12A>G)
c.445-7020A>G (n.445-7020A>G)
 gnomAD v4
3g.4417999C=CA1342154139SUMF1c.725+11G= (n.725+11G=)
c.650+11G= (n.650+11G=)
c.445-7021G= (n.445-7021G=)
3g.4417999C>GCA2230483SUMF1c.725+11G>C (n.725+11G>C)
c.650+11G>C (n.650+11G>C)
c.445-7021G>C (n.445-7021G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4417999C>TCA540800636SUMF1c.725+11G>A (n.725+11G>A)
c.650+11G>A (n.650+11G>A)
c.445-7021G>A (n.445-7021G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.4418000C=CA1342154141SUMF1c.725+10G= (n.725+10G=)
c.650+10G= (n.650+10G=)
c.445-7022G= (n.445-7022G=)
3g.4418000C>TCA2230484SUMF1c.725+10G>A (n.725+10G>A)
c.650+10G>A (n.650+10G>A)
c.445-7022G>A (n.445-7022G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418002C>GCA2739278989SUMF1c.725+8G>C (n.725+8G>C)
c.650+8G>C (n.650+8G>C)
c.445-7024G>C (n.445-7024G>C)
 ClinVar
3g.4418002C>TCA2577493084SUMF1c.725+8G>A (n.725+8G>A)
c.650+8G>A (n.650+8G>A)
c.445-7024G>A (n.445-7024G>A)
 gnomAD v4
3g.4418006A=CA1342154143SUMF1c.725+4T= (n.725+4T=)
c.650+4T= (n.650+4T=)
c.445-7028T= (n.445-7028T=)
3g.4418006A>CCA2230485SUMF1c.725+4T>G (n.725+4T>G)
c.650+4T>G (n.650+4T>G)
c.445-7028T>G (n.445-7028T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418008A>CCA351632346SUMF1c.725+2T>G (n.725+2T>G)
c.650+2T>G (n.650+2T>G)
c.445-7030T>G (n.445-7030T>G)
3g.4418008A>GCA351632347SUMF1c.725+2T>C (n.725+2T>C)
c.650+2T>C (n.650+2T>C)
c.445-7030T>C (n.445-7030T>C)
3g.4418008A>TCA351632349SUMF1c.725+2T>A (n.725+2T>A)
c.650+2T>A (n.650+2T>A)
c.445-7030T>A (n.445-7030T>A)
3g.4418009C>ACA351632351SUMF1c.725+1G>T (n.725+1G>T)
c.650+1G>T (n.650+1G>T)
c.445-7031G>T (n.445-7031G>T)
3g.4418009C>GCA351632353SUMF1c.725+1G>C (n.725+1G>C)
c.650+1G>C (n.650+1G>C)
c.445-7031G>C (n.445-7031G>C)
3g.4418009C>TCA351632354SUMF1c.725+1G>A (n.725+1G>A)
c.650+1G>A (n.650+1G>A)
c.445-7031G>A (n.445-7031G>A)
3g.4418010C>ACA351632355SUMF1c.725G>T (p.Arg242Ile)
c.650G>T (p.Arg217Ile)
c.445-7032G>T (n.445-7032G>T)
3g.4418010C=CA1342154146SUMF1c.725G= (p.Arg242=)
c.650G= (p.Arg217=)
c.445-7032G= (n.445-7032G=)
3g.4418010C>GCA351632356SUMF1c.725G>C (p.Arg242Thr)
c.650G>C (p.Arg217Thr)
c.445-7032G>C (n.445-7032G>C)
3g.4418010C>TCA351632357SUMF1c.725G>A (p.Arg242Lys)
c.650G>A (p.Arg217Lys)
c.445-7032G>A (n.445-7032G>A)
3g.4418011T>ACA2230487SUMF1c.724A>T (p.Arg242Ter)
c.649A>T (p.Arg217Ter)
c.445-7033A>T (n.445-7033A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418011T>CCA2230488SUMF1c.724A>G (p.Arg242Gly)
c.649A>G (p.Arg217Gly)
c.445-7033A>G (n.445-7033A>G)
 dbSNP ExAC gnomAD v2
3g.4418011T>GCA432313245SUMF1c.724A>C (p.Arg242=)
c.649A>C (p.Arg217=)
c.445-7033A>C (n.445-7033A>C)
3g.4418011T=CA1342154151SUMF1c.724A= (p.Arg242=)
c.649A= (p.Arg217=)
c.445-7033A= (n.445-7033A=)
3g.4418011dupCA2230486SUMF1c.724dup (p.Arg242LysfsTer?)
c.649dup (p.Arg217LysfsTer?)
c.445-7033dup (n.445-7033dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418012A>CCA351632363SUMF1c.723T>G (p.Asn241Lys)
c.648T>G (p.Asn216Lys)
c.445-7034T>G (n.445-7034T>G)
3g.4418012A>GCA432313261SUMF1c.723T>C (p.Asn241=)
c.648T>C (p.Asn216=)
c.445-7034T>C (n.445-7034T>C)
 gnomAD v4 COSMIC COSMIC
3g.4418012A>TCA351632370SUMF1c.723T>A (p.Asn241Lys)
c.648T>A (p.Asn216Lys)
c.445-7034T>A (n.445-7034T>A)
3g.4418013T>ACA351632373SUMF1c.722A>T (p.Asn241Ile)
c.647A>T (p.Asn216Ile)
c.445-7035A>T (n.445-7035A>T)
3g.4418013T>CCA2230489SUMF1c.722A>G (p.Asn241Ser)
c.647A>G (p.Asn216Ser)
c.445-7035A>G (n.445-7035A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418013T>GCA351632375SUMF1c.722A>C (p.Asn241Thr)
c.647A>C (p.Asn216Thr)
c.445-7035A>C (n.445-7035A>C)
3g.4418013T=CA1342154160SUMF1c.722A= (p.Asn241=)
c.647A= (p.Asn216=)
c.445-7035A= (n.445-7035A=)
3g.4418014T>ACA351632379SUMF1c.721A>T (p.Asn241Tyr)
c.646A>T (p.Asn216Tyr)
c.445-7036A>T (n.445-7036A>T)
3g.4418014T>CCA351632380SUMF1c.721A>G (p.Asn241Asp)
c.646A>G (p.Asn216Asp)
c.445-7036A>G (n.445-7036A>G)
 gnomAD v4 COSMIC COSMIC
3g.4418014T>GCA351632382SUMF1c.721A>C (p.Asn241His)
c.646A>C (p.Asn216His)
c.445-7036A>C (n.445-7036A>C)
3g.4418015A>CCA351632386SUMF1c.720T>G (p.His240Gln)
c.645T>G (p.His215Gln)
c.445-7037T>G (n.445-7037T>G)
 ClinVar
3g.4418015A>GCA432313276SUMF1c.720T>C (p.His240=)
c.645T>C (p.His215=)
c.445-7037T>C (n.445-7037T>C)
3g.4418015A>TCA351632388SUMF1c.720T>A (p.His240Gln)
c.645T>A (p.His215Gln)
c.445-7037T>A (n.445-7037T>A)
3g.4418016T>ACA351632391SUMF1c.719A>T (p.His240Leu)
c.644A>T (p.His215Leu)
c.445-7038A>T (n.445-7038A>T)
3g.4418016T>CCA2230490SUMF1c.719A>G (p.His240Arg)
c.644A>G (p.His215Arg)
c.445-7038A>G (n.445-7038A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418016T>GCA351632393SUMF1c.719A>C (p.His240Pro)
c.644A>C (p.His215Pro)
c.445-7038A>C (n.445-7038A>C)
3g.4418016T=CA1342154163SUMF1c.719A= (p.His240=)
c.644A= (p.His215=)
c.445-7038A= (n.445-7038A=)
3g.4418017G>ACA2230491SUMF1c.718C>T (p.His240Tyr)
c.643C>T (p.His215Tyr)
c.445-7039C>T (n.445-7039C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418017G>CCA351632398SUMF1c.718C>G (p.His240Asp)
c.643C>G (p.His215Asp)
c.445-7039C>G (n.445-7039C>G)
3g.4418017G=CA1342154165SUMF1c.718C= (p.His240=)
c.643C= (p.His215=)
c.445-7039C= (n.445-7039C=)
3g.4418017G>TCA351632396SUMF1c.718C>A (p.His240Asn)
c.643C>A (p.His215Asn)
c.445-7039C>A (n.445-7039C>A)
3g.4418018C>ACA432313316SUMF1c.717G>T (p.Leu239=)
c.642G>T (p.Leu214=)
c.445-7040G>T (n.445-7040G>T)
3g.4418018C=CA1342154170SUMF1c.717G= (p.Leu239=)
c.642G= (p.Leu214=)
c.445-7040G= (n.445-7040G=)
3g.4418018C>GCA432313342SUMF1c.717G>C (p.Leu239=)
c.642G>C (p.Leu214=)
c.445-7040G>C (n.445-7040G>C)
3g.4418018C>TCA68802749SUMF1c.717G>A (p.Leu239=)
c.642G>A (p.Leu214=)
c.445-7040G>A (n.445-7040G>A)
 dbSNP gnomAD v4
3g.4418019A>CCA351632401SUMF1c.716T>G (p.Leu239Arg)
c.641T>G (p.Leu214Arg)
c.445-7041T>G (n.445-7041T>G)
3g.4418019A>GCA351632405SUMF1c.716T>C (p.Leu239Pro)
c.641T>C (p.Leu214Pro)
c.445-7041T>C (n.445-7041T>C)
3g.4418019A>TCA351632403SUMF1c.716T>A (p.Leu239Gln)
c.641T>A (p.Leu214Gln)
c.445-7041T>A (n.445-7041T>A)
3g.4418020G>ACA2230492SUMF1c.715C>T (p.Leu239=)
c.640C>T (p.Leu214=)
c.445-7042C>T (n.445-7042C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418020G>CCA351632408SUMF1c.715C>G (p.Leu239Val)
c.640C>G (p.Leu214Val)
c.445-7042C>G (n.445-7042C>G)
3g.4418020G=CA1342154173SUMF1c.715C= (p.Leu239=)
c.640C= (p.Leu214=)
c.445-7042C= (n.445-7042C=)
3g.4418020G>TCA351632410SUMF1c.715C>A (p.Leu239Met)
c.640C>A (p.Leu214Met)
c.445-7042C>A (n.445-7042C>A)
3g.4418021G>ACA432313368SUMF1c.714C>T (p.Gly238=)
c.639C>T (p.Gly213=)
c.445-7043C>T (n.445-7043C>T)
3g.4418021G>CCA432313372SUMF1c.714C>G (p.Gly238=)
c.639C>G (p.Gly213=)
c.445-7043C>G (n.445-7043C>G)
3g.4418021G>TCA432313375SUMF1c.714C>A (p.Gly238=)
c.639C>A (p.Gly213=)
c.445-7043C>A (n.445-7043C>A)
3g.4418022C>ACA351632412SUMF1c.713G>T (p.Gly238Val)
c.638G>T (p.Gly213Val)
c.445-7044G>T (n.445-7044G>T)
3g.4418022C=CA1342154177SUMF1c.713G= (p.Gly238=)
c.638G= (p.Gly213=)
c.445-7044G= (n.445-7044G=)
3g.4418022C>GCA351632414SUMF1c.713G>C (p.Gly238Ala)
c.638G>C (p.Gly213Ala)
c.445-7044G>C (n.445-7044G>C)
3g.4418022C>TCA68802754SUMF1c.713G>A (p.Gly238Asp)
c.638G>A (p.Gly213Asp)
c.445-7044G>A (n.445-7044G>A)
 dbSNP
3g.4418023C>ACA351632417SUMF1c.712G>T (p.Gly238Cys)
c.637G>T (p.Gly213Cys)
c.445-7045G>T (n.445-7045G>T)
3g.4418023C>GCA351632419SUMF1c.712G>C (p.Gly238Arg)
c.637G>C (p.Gly213Arg)
c.445-7045G>C (n.445-7045G>C)
3g.4418023C>TCA351632421SUMF1c.712G>A (p.Gly238Ser)
c.637G>A (p.Gly213Ser)
c.445-7045G>A (n.445-7045G>A)
3g.4418024T>ACA432313385SUMF1c.711A>T (p.Gly237=)
c.636A>T (p.Gly212=)
c.445-7046A>T (n.445-7046A>T)
3g.4418024T>CCA432313388SUMF1c.711A>G (p.Gly237=)
c.636A>G (p.Gly212=)
c.445-7046A>G (n.445-7046A>G)
3g.4418024T>GCA432313396SUMF1c.711A>C (p.Gly237=)
c.636A>C (p.Gly212=)
c.445-7046A>C (n.445-7046A>C)
3g.4418025C>ACA351632424SUMF1c.710G>T (p.Gly237Val)
c.635G>T (p.Gly212Val)
c.445-7047G>T (n.445-7047G>T)
3g.4418025C>GCA351632426SUMF1c.710G>C (p.Gly237Ala)
c.635G>C (p.Gly212Ala)
c.445-7047G>C (n.445-7047G>C)
3g.4418025C>TCA351632427SUMF1c.710G>A (p.Gly237Glu)
c.635G>A (p.Gly212Glu)
c.445-7047G>A (n.445-7047G>A)
 gnomAD v4
3g.4418026C>ACA351632433SUMF1c.709G>T (p.Gly237Ter)
c.634G>T (p.Gly212Ter)
c.445-7048G>T (n.445-7048G>T)
3g.4418026C=CA1342154182SUMF1c.709G= (p.Gly237=)
c.634G= (p.Gly212=)
c.445-7048G= (n.445-7048G=)
3g.4418026C>GCA2230493SUMF1c.709G>C (p.Gly237Arg)
c.634G>C (p.Gly212Arg)
c.445-7048G>C (n.445-7048G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418026C>TCA351632430SUMF1c.709G>A (p.Gly237Arg)
c.634G>A (p.Gly212Arg)
c.445-7048G>A (n.445-7048G>A)
 dbSNP gnomAD v2
3g.4418027T>ACA432313410SUMF1c.708A>T (p.Arg236=)
c.633A>T (p.Arg211=)
c.445-7049A>T (n.445-7049A>T)
 gnomAD v4
3g.4418027T>CCA432313414SUMF1c.708A>G (p.Arg236=)
c.633A>G (p.Arg211=)
c.445-7049A>G (n.445-7049A>G)
3g.4418027T>GCA432313424SUMF1c.708A>C (p.Arg236=)
c.633A>C (p.Arg211=)
c.445-7049A>C (n.445-7049A>C)
3g.4418028C>ACA2230495SUMF1c.707G>T (p.Arg236Leu)
c.632G>T (p.Arg211Leu)
c.445-7050G>T (n.445-7050G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418028C=CA1342154186SUMF1c.707G= (p.Arg236=)
c.632G= (p.Arg211=)
c.445-7050G= (n.445-7050G=)
3g.4418028C>GCA351632438SUMF1c.707G>C (p.Arg236Pro)
c.632G>C (p.Arg211Pro)
c.445-7050G>C (n.445-7050G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.4418028C>TCA2230494SUMF1c.707G>A (p.Arg236Gln)
c.632G>A (p.Arg211Gln)
c.445-7050G>A (n.445-7050G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418029G>ACA2230496SUMF1c.706C>T (p.Arg236Ter)
c.631C>T (p.Arg211Ter)
c.445-7051C>T (n.445-7051C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.4418029G>CCA351632443SUMF1c.706C>G (p.Arg236Gly)
c.631C>G (p.Arg211Gly)
c.445-7051C>G (n.445-7051C>G)
3g.4418029G=CA1342154189SUMF1c.706C= (p.Arg236=)
c.631C= (p.Arg211=)
c.445-7051C= (n.445-7051C=)
3g.4418029G>TCA432313433SUMF1c.706C>A (p.Arg236=)
c.631C>A (p.Arg211=)
c.445-7051C>A (n.445-7051C>A)
 gnomAD v4
3g.4418030A>CCA351632444SUMF1c.705T>G (p.Cys235Trp)
c.630T>G (p.Cys210Trp)
c.445-7052T>G (n.445-7052T>G)
3g.4418030A>GCA432313435SUMF1c.705T>C (p.Cys235=)
c.630T>C (p.Cys210=)
c.445-7052T>C (n.445-7052T>C)
 COSMIC COSMIC
3g.4418030A>TCA351632446SUMF1c.705T>A (p.Cys235Ter)
c.630T>A (p.Cys210Ter)
c.445-7052T>A (n.445-7052T>A)
3g.4418031C>ACA351632447SUMF1c.704G>T (p.Cys235Phe)
c.629G>T (p.Cys210Phe)
c.445-7053G>T (n.445-7053G>T)
3g.4418031C>GCA351632449SUMF1c.704G>C (p.Cys235Ser)
c.629G>C (p.Cys210Ser)
c.445-7053G>C (n.445-7053G>C)
3g.4418031C>TCA351632451SUMF1c.704G>A (p.Cys235Tyr)
c.629G>A (p.Cys210Tyr)
c.445-7053G>A (n.445-7053G>A)
3g.4418033_4418044delCA2664206515SUMF1c.693_704del (p.Trp231_Ser234del)
c.618_629del (p.Trp206_Ser209del)
c.445-7064_445-7053del (n.445-7064_445-7053del)
 gnomAD v4
3g.4418032A>CCA351632453SUMF1c.703T>G (p.Cys235Gly)
c.628T>G (p.Cys210Gly)
c.445-7054T>G (n.445-7054T>G)
 gnomAD v4
3g.4418032A>GCA351632455SUMF1c.703T>C (p.Cys235Arg)
c.628T>C (p.Cys210Arg)
c.445-7054T>C (n.445-7054T>C)
3g.4418032A>TCA351632457SUMF1c.703T>A (p.Cys235Ser)
c.628T>A (p.Cys210Ser)
c.445-7054T>A (n.445-7054T>A)
3g.4418033G>ACA432313451SUMF1c.702C>T (p.Ser234=)
c.627C>T (p.Ser209=)
c.445-7055C>T (n.445-7055C>T)
 ClinVar gnomAD v4
3g.4418033G>CCA351632459SUMF1c.702C>G (p.Ser234Arg)
c.627C>G (p.Ser209Arg)
c.445-7055C>G (n.445-7055C>G)
 dbSNP
3g.4418033G>TCA351632461SUMF1c.702C>A (p.Ser234Arg)
c.627C>A (p.Ser209Arg)
c.445-7055C>A (n.445-7055C>A)
3g.4418034C>ACA351632463SUMF1c.701G>T (p.Ser234Ile)
c.626G>T (p.Ser209Ile)
c.445-7056G>T (n.445-7056G>T)
3g.4418034C>GCA351632465SUMF1c.701G>C (p.Ser234Thr)
c.626G>C (p.Ser209Thr)
c.445-7056G>C (n.445-7056G>C)
3g.4418034C>TCA351632467SUMF1c.701G>A (p.Ser234Asn)
c.626G>A (p.Ser209Asn)
c.445-7056G>A (n.445-7056G>A)
3g.4418035T>ACA351632469SUMF1c.700A>T (p.Ser234Cys)
c.625A>T (p.Ser209Cys)
c.445-7057A>T (n.445-7057A>T)
3g.4418035T>CCA351632471SUMF1c.700A>G (p.Ser234Gly)
c.625A>G (p.Ser209Gly)
c.445-7057A>G (n.445-7057A>G)
3g.4418035T>GCA351632472SUMF1c.700A>C (p.Ser234Arg)
c.625A>C (p.Ser209Arg)
c.445-7057A>C (n.445-7057A>C)
3g.4418036G>ACA432313470SUMF1c.699C>T (p.Tyr233=)
c.624C>T (p.Tyr208=)
c.445-7058C>T (n.445-7058C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.4418036G>CCA351632473SUMF1c.699C>G (p.Tyr233Ter)
c.624C>G (p.Tyr208Ter)
c.445-7058C>G (n.445-7058C>G)
 gnomAD v4
3g.4418036G=CA1342154191SUMF1c.699C= (p.Tyr233=)
c.624C= (p.Tyr208=)
c.445-7058C= (n.445-7058C=)
3g.4418036G>TCA351632475SUMF1c.699C>A (p.Tyr233Ter)
c.624C>A (p.Tyr208Ter)
c.445-7058C>A (n.445-7058C>A)
 gnomAD v4
3g.4418037T>ACA351632478SUMF1c.698A>T (p.Tyr233Phe)
c.623A>T (p.Tyr208Phe)
c.445-7059A>T (n.445-7059A>T)
3g.4418037T>CCA351632480SUMF1c.698A>G (p.Tyr233Cys)
c.623A>G (p.Tyr208Cys)
c.445-7059A>G (n.445-7059A>G)
3g.4418037T>GCA351632481SUMF1c.698A>C (p.Tyr233Ser)
c.623A>C (p.Tyr208Ser)
c.445-7059A>C (n.445-7059A>C)
3g.4418038A>CCA351632484SUMF1c.697T>G (p.Tyr233Asp)
c.622T>G (p.Tyr208Asp)
c.445-7060T>G (n.445-7060T>G)
3g.4418038A>GCA351632485SUMF1c.697T>C (p.Tyr233His)
c.622T>C (p.Tyr208His)
c.445-7060T>C (n.445-7060T>C)
3g.4418038A>TCA351632488SUMF1c.697T>A (p.Tyr233Asn)
c.622T>A (p.Tyr208Asn)
c.445-7060T>A (n.445-7060T>A)
3g.4418039T>ACA351632490SUMF1c.696A>T (p.Glu232Asp)
c.621A>T (p.Glu207Asp)
c.445-7061A>T (n.445-7061A>T)
3g.4418039T>CCA432313511SUMF1c.696A>G (p.Glu232=)
c.621A>G (p.Glu207=)
c.445-7061A>G (n.445-7061A>G)
 ClinVar gnomAD v4
3g.4418039T>GCA351632492SUMF1c.696A>C (p.Glu232Asp)
c.621A>C (p.Glu207Asp)
c.445-7061A>C (n.445-7061A>C)
3g.4418040T>ACA351632494SUMF1c.695A>T (p.Glu232Val)
c.620A>T (p.Glu207Val)
c.445-7062A>T (n.445-7062A>T)
3g.4418040T>CCA351632496SUMF1c.695A>G (p.Glu232Gly)
c.620A>G (p.Glu207Gly)
c.445-7062A>G (n.445-7062A>G)
3g.4418040T>GCA351632497SUMF1c.695A>C (p.Glu232Ala)
c.620A>C (p.Glu207Ala)
c.445-7062A>C (n.445-7062A>C)
3g.4418041C>ACA351632499SUMF1c.694G>T (p.Glu232Ter)
c.619G>T (p.Glu207Ter)
c.445-7063G>T (n.445-7063G>T)
 gnomAD v4
3g.4418041C>GCA351632501SUMF1c.694G>C (p.Glu232Gln)
c.619G>C (p.Glu207Gln)
c.445-7063G>C (n.445-7063G>C)
3g.4418041C>TCA351632503SUMF1c.694G>A (p.Glu232Lys)
c.619G>A (p.Glu207Lys)
c.445-7063G>A (n.445-7063G>A)
3g.4418042C>ACA351632505SUMF1c.693G>T (p.Trp231Cys)
c.618G>T (p.Trp206Cys)
c.445-7064G>T (n.445-7064G>T)
3g.4418042C>GCA351632507SUMF1c.693G>C (p.Trp231Cys)
c.618G>C (p.Trp206Cys)
c.445-7064G>C (n.445-7064G>C)
3g.4418042C>TCA351632510SUMF1c.693G>A (p.Trp231Ter)
c.618G>A (p.Trp206Ter)
c.445-7064G>A (n.445-7064G>A)
3g.4418043C>ACA351632511SUMF1c.692G>T (p.Trp231Leu)
c.617G>T (p.Trp206Leu)
c.445-7065G>T (n.445-7065G>T)
3g.4418043C=CA1342154194SUMF1c.692G= (p.Trp231=)
c.617G= (p.Trp206=)
c.445-7065G= (n.445-7065G=)
3g.4418043C>GCA351632512SUMF1c.692G>C (p.Trp231Ser)
c.617G>C (p.Trp206Ser)
c.445-7065G>C (n.445-7065G>C)
3g.4418043C>TCA351632513SUMF1c.692G>A (p.Trp231Ter)
c.617G>A (p.Trp206Ter)
c.445-7065G>A (n.445-7065G>A)
 ClinVar gnomAD v4
3g.4418044A=CA1342154197SUMF1c.691T= (p.Trp231=)
c.616T= (p.Trp206=)
c.445-7066T= (n.445-7066T=)
3g.4418044A>CCA351632519SUMF1c.691T>G (p.Trp231Gly)
c.616T>G (p.Trp206Gly)
c.445-7066T>G (n.445-7066T>G)
 dbSNP
3g.4418044A>GCA351632515SUMF1c.691T>C (p.Trp231Arg)
c.616T>C (p.Trp206Arg)
c.445-7066T>C (n.445-7066T>C)
3g.4418044A>TCA351632517SUMF1c.691T>A (p.Trp231Arg)
c.616T>A (p.Trp206Arg)
c.445-7066T>A (n.445-7066T>A)
3g.4418044dupCA2230497SUMF1c.691dup (p.Trp231LeufsTer11)
c.616dup (p.Trp206LeufsTer11)
c.445-7066dup (n.445-7066dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418045C>ACA351632522SUMF1c.690G>T (p.Glu230Asp)
c.615G>T (p.Glu205Asp)
c.445-7067G>T (n.445-7067G>T)
3g.4418045C=CA1342154199SUMF1c.690G= (p.Glu230=)
c.615G= (p.Glu205=)
c.445-7067G= (n.445-7067G=)
3g.4418045C>GCA351632524SUMF1c.690G>C (p.Glu230Asp)
c.615G>C (p.Glu205Asp)
c.445-7067G>C (n.445-7067G>C)
3g.4418045C>TCA432313579SUMF1c.690G>A (p.Glu230=)
c.615G>A (p.Glu205=)
c.445-7067G>A (n.445-7067G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.4418046T>ACA351632526SUMF1c.689A>T (p.Glu230Val)
c.614A>T (p.Glu205Val)
c.445-7068A>T (n.445-7068A>T)
3g.4418046T>CCA351632528SUMF1c.689A>G (p.Glu230Gly)
c.614A>G (p.Glu205Gly)
c.445-7068A>G (n.445-7068A>G)
3g.4418046T>GCA351632529SUMF1c.689A>C (p.Glu230Ala)
c.614A>C (p.Glu205Ala)
c.445-7068A>C (n.445-7068A>C)
3g.4418047C>ACA351632532SUMF1c.688G>T (p.Glu230Ter)
c.613G>T (p.Glu205Ter)
c.445-7069G>T (n.445-7069G>T)
 gnomAD v4
3g.4418047C>GCA351632534SUMF1c.688G>C (p.Glu230Gln)
c.613G>C (p.Glu205Gln)
c.445-7069G>C (n.445-7069G>C)
3g.4418047C>TCA351632536SUMF1c.688G>A (p.Glu230Lys)
c.613G>A (p.Glu205Lys)
c.445-7069G>A (n.445-7069G>A)
3g.4418048A>CCA432313600SUMF1c.687T>G (p.Ala229=)
c.612T>G (p.Ala204=)
c.445-7070T>G (n.445-7070T>G)
3g.4418048A>GCA432313602SUMF1c.687T>C (p.Ala229=)
c.612T>C (p.Ala204=)
c.445-7070T>C (n.445-7070T>C)
 dbSNP gnomAD v4
3g.4418048A>TCA432313603SUMF1c.687T>A (p.Ala229=)
c.612T>A (p.Ala204=)
c.445-7070T>A (n.445-7070T>A)
3g.4418049G>ACA351632538SUMF1c.686C>T (p.Ala229Val)
c.611C>T (p.Ala204Val)
c.445-7071C>T (n.445-7071C>T)
3g.4418049G>CCA351632539SUMF1c.686C>G (p.Ala229Gly)
c.611C>G (p.Ala204Gly)
c.445-7071C>G (n.445-7071C>G)
3g.4418049G>TCA351632540SUMF1c.686C>A (p.Ala229Asp)
c.611C>A (p.Ala204Asp)
c.445-7071C>A (n.445-7071C>A)
3g.4418050C>ACA351632541SUMF1c.685G>T (p.Ala229Ser)
c.610G>T (p.Ala204Ser)
c.445-7072G>T (n.445-7072G>T)
3g.4418050C>GCA351632542SUMF1c.685G>C (p.Ala229Pro)
c.610G>C (p.Ala204Pro)
c.445-7072G>C (n.445-7072G>C)
3g.4418050C>TCA351632543SUMF1c.685G>A (p.Ala229Thr)
c.610G>A (p.Ala204Thr)
c.445-7072G>A (n.445-7072G>A)
3g.4418051T>ACA351632544SUMF1c.684A>T (p.Glu228Asp)
c.609A>T (p.Glu203Asp)
c.445-7073A>T (n.445-7073A>T)
3g.4418051T>CCA432313631SUMF1c.684A>G (p.Glu228=)
c.609A>G (p.Glu203=)
c.445-7073A>G (n.445-7073A>G)
 ClinVar dbSNP
3g.4418051T>GCA351632546SUMF1c.684A>C (p.Glu228Asp)
c.609A>C (p.Glu203Asp)
c.445-7073A>C (n.445-7073A>C)
3g.4418051T=CA1342154200SUMF1c.684A= (p.Glu228=)
c.609A= (p.Glu203=)
c.445-7073A= (n.445-7073A=)
3g.4418052T>ACA351632548SUMF1c.683A>T (p.Glu228Val)
c.608A>T (p.Glu203Val)
c.445-7074A>T (n.445-7074A>T)
3g.4418052T>CCA351632550SUMF1c.683A>G (p.Glu228Gly)
c.608A>G (p.Glu203Gly)
c.445-7074A>G (n.445-7074A>G)
 gnomAD v4
3g.4418052T>GCA351632558SUMF1c.683A>C (p.Glu228Ala)
c.608A>C (p.Glu203Ala)
c.445-7074A>C (n.445-7074A>C)
3g.4418053C>ACA351632562SUMF1c.682G>T (p.Glu228Ter)
c.607G>T (p.Glu203Ter)
c.445-7075G>T (n.445-7075G>T)
3g.4418053C>GCA351632563SUMF1c.682G>C (p.Glu228Gln)
c.607G>C (p.Glu203Gln)
c.445-7075G>C (n.445-7075G>C)
3g.4418053C>TCA351632564SUMF1c.682G>A (p.Glu228Lys)
c.607G>A (p.Glu203Lys)
c.445-7075G>A (n.445-7075G>A)
3g.4418054_4418082delCA2664206516SUMF1c.654_682del (p.Cys218Ter)
c.579_607del (p.Cys193Ter)
c.445-7103_445-7075del (n.445-7103_445-7075del)
 gnomAD v4
3g.4418054C>ACA432313646SUMF1c.681G>T (p.Thr227=)
c.606G>T (p.Thr202=)
c.445-7076G>T (n.445-7076G>T)
3g.4418054C=CA1342154202SUMF1c.681G= (p.Thr227=)
c.606G= (p.Thr202=)
c.445-7076G= (n.445-7076G=)
3g.4418054C>GCA432313648SUMF1c.681G>C (p.Thr227=)
c.606G>C (p.Thr202=)
c.445-7076G>C (n.445-7076G>C)
 dbSNP gnomAD v4
3g.4418054C>TCA2230498SUMF1c.681G>A (p.Thr227=)
c.606G>A (p.Thr202=)
c.445-7076G>A (n.445-7076G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418055G>ACA2230499SUMF1c.680C>T (p.Thr227Met)
c.605C>T (p.Thr202Met)
c.445-7077C>T (n.445-7077C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418055G>CCA2230500SUMF1c.680C>G (p.Thr227Arg)
c.605C>G (p.Thr202Arg)
c.445-7077C>G (n.445-7077C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418055G=CA1342154210SUMF1c.680C= (p.Thr227=)
c.605C= (p.Thr202=)
c.445-7077C= (n.445-7077C=)
3g.4418055G>TCA351632572SUMF1c.680C>A (p.Thr227Lys)
c.605C>A (p.Thr202Lys)
c.445-7077C>A (n.445-7077C>A)
 gnomAD v4
3g.4418056T>ACA351632574SUMF1c.679A>T (p.Thr227Ser)
c.604A>T (p.Thr202Ser)
c.445-7078A>T (n.445-7078A>T)
3g.4418056T>CCA351632575SUMF1c.679A>G (p.Thr227Ala)
c.604A>G (p.Thr202Ala)
c.445-7078A>G (n.445-7078A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.4418056T>GCA351632576SUMF1c.679A>C (p.Thr227Pro)
c.604A>C (p.Thr202Pro)
c.445-7078A>C (n.445-7078A>C)
3g.4418056T=CA1342154214SUMF1c.679A= (p.Thr227=)
c.604A= (p.Thr202=)
c.445-7078A= (n.445-7078A=)
3g.4418057G>ACA432313666SUMF1c.678C>T (p.Pro226=)
c.603C>T (p.Pro201=)
c.445-7079C>T (n.445-7079C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.4418057G>CCA432313667SUMF1c.678C>G (p.Pro226=)
c.603C>G (p.Pro201=)
c.445-7079C>G (n.445-7079C>G)
3g.4418057G=CA1342154218SUMF1c.678C= (p.Pro226=)
c.603C= (p.Pro201=)
c.445-7079C= (n.445-7079C=)
3g.4418057G>TCA432313668SUMF1c.678C>A (p.Pro226=)
c.603C>A (p.Pro201=)
c.445-7079C>A (n.445-7079C>A)
3g.4418058G>ACA351632579SUMF1c.677C>T (p.Pro226Leu)
c.602C>T (p.Pro201Leu)
c.445-7080C>T (n.445-7080C>T)
3g.4418058G>CCA351632577SUMF1c.677C>G (p.Pro226Arg)
c.602C>G (p.Pro201Arg)
c.445-7080C>G (n.445-7080C>G)
3g.4418058G>TCA351632578SUMF1c.677C>A (p.Pro226His)
c.602C>A (p.Pro201His)
c.445-7080C>A (n.445-7080C>A)
3g.4418059G>ACA351632580SUMF1c.676C>T (p.Pro226Ser)
c.601C>T (p.Pro201Ser)
c.445-7081C>T (n.445-7081C>T)
 gnomAD v4
3g.4418059G>CCA2230501SUMF1c.676C>G (p.Pro226Ala)
c.601C>G (p.Pro201Ala)
c.445-7081C>G (n.445-7081C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418059G=CA1342154220SUMF1c.676C= (p.Pro226=)
c.601C= (p.Pro201=)
c.445-7081C= (n.445-7081C=)
3g.4418059G>TCA351632582SUMF1c.676C>A (p.Pro226Thr)
c.601C>A (p.Pro201Thr)
c.445-7081C>A (n.445-7081C>A)
3g.4418060C>ACA432313687SUMF1c.675G>T (p.Leu225=)
c.600G>T (p.Leu200=)
c.445-7082G>T (n.445-7082G>T)
 ClinVar dbSNP gnomAD v4
3g.4418060C=CA1342154225SUMF1c.675G= (p.Leu225=)
c.600G= (p.Leu200=)
c.445-7082G= (n.445-7082G=)
3g.4418060C>GCA432313690SUMF1c.675G>C (p.Leu225=)
c.600G>C (p.Leu200=)
c.445-7082G>C (n.445-7082G>C)
 gnomAD v4
3g.4418060C>TCA2230502SUMF1c.675G>A (p.Leu225=)
c.600G>A (p.Leu200=)
c.445-7082G>A (n.445-7082G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418060dupCA2580069165SUMF1c.675dup (p.Pro226AlafsTer5)
c.600dup (p.Pro201AlafsTer5)
c.445-7082dup (n.445-7082dup)
 ClinVar
3g.4418061A>CCA351632586SUMF1c.674T>G (p.Leu225Arg)
c.599T>G (p.Leu200Arg)
c.445-7083T>G (n.445-7083T>G)
3g.4418061A>GCA351632587SUMF1c.674T>C (p.Leu225Pro)
c.599T>C (p.Leu200Pro)
c.445-7083T>C (n.445-7083T>C)
 gnomAD v4
3g.4418061A>TCA351632589SUMF1c.674T>A (p.Leu225Gln)
c.599T>A (p.Leu200Gln)
c.445-7083T>A (n.445-7083T>A)
3g.4418062G>ACA432313699SUMF1c.673C>T (p.Leu225=)
c.598C>T (p.Leu200=)
c.445-7084C>T (n.445-7084C>T)
3g.4418062G>CCA351632591SUMF1c.673C>G (p.Leu225Val)
c.598C>G (p.Leu200Val)
c.445-7084C>G (n.445-7084C>G)
3g.4418062G>TCA351632594SUMF1c.673C>A (p.Leu225Met)
c.598C>A (p.Leu200Met)
c.445-7084C>A (n.445-7084C>A)
3g.4418063C>ACA432313710SUMF1c.672G>T (p.Arg224=)
c.597G>T (p.Arg199=)
c.445-7085G>T (n.445-7085G>T)
3g.4418063C=CA1342154227SUMF1c.672G= (p.Arg224=)
c.597G= (p.Arg199=)
c.445-7085G= (n.445-7085G=)
3g.4418063C>GCA432313714SUMF1c.672G>C (p.Arg224=)
c.597G>C (p.Arg199=)
c.445-7085G>C (n.445-7085G>C)
 dbSNP
3g.4418063C>TCA432313719SUMF1c.672G>A (p.Arg224=)
c.597G>A (p.Arg199=)
c.445-7085G>A (n.445-7085G>A)
 dbSNP gnomAD v4
3g.4418064C>ACA351632598SUMF1c.671G>T (p.Arg224Leu)
c.596G>T (p.Arg199Leu)
c.445-7086G>T (n.445-7086G>T)
3g.4418064C=CA1342154233SUMF1c.671G= (p.Arg224=)
c.596G= (p.Arg199=)
c.445-7086G= (n.445-7086G=)
3g.4418064C>GCA351632599SUMF1c.671G>C (p.Arg224Pro)
c.596G>C (p.Arg199Pro)
c.445-7086G>C (n.445-7086G>C)
 gnomAD v4
3g.4418064C>TCA351632600SUMF1c.671G>A (p.Arg224Gln)
c.596G>A (p.Arg199Gln)
c.445-7086G>A (n.445-7086G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.4418065G>ACA2230503SUMF1c.670C>T (p.Arg224Trp)
c.595C>T (p.Arg199Trp)
c.445-7087C>T (n.445-7087C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418065G>CCA351632603SUMF1c.670C>G (p.Arg224Gly)
c.595C>G (p.Arg199Gly)
c.445-7087C>G (n.445-7087C>G)
3g.4418065G=CA1342154239SUMF1c.670C= (p.Arg224=)
c.595C= (p.Arg199=)
c.445-7087C= (n.445-7087C=)
3g.4418065G>TCA432313737SUMF1c.670C>A (p.Arg224=)
c.595C>A (p.Arg199=)
c.445-7087C>A (n.445-7087C>A)
3g.4418066C>ACA351632608SUMF1c.669G>T (p.Lys223Asn)
c.594G>T (p.Lys198Asn)
c.445-7088G>T (n.445-7088G>T)
3g.4418066C>GCA351632607SUMF1c.669G>C (p.Lys223Asn)
c.594G>C (p.Lys198Asn)
c.445-7088G>C (n.445-7088G>C)
3g.4418066C>TCA432313741SUMF1c.669G>A (p.Lys223=)
c.594G>A (p.Lys198=)
c.445-7088G>A (n.445-7088G>A)
3g.4418067T>ACA351632611SUMF1c.668A>T (p.Lys223Met)
c.593A>T (p.Lys198Met)
c.445-7089A>T (n.445-7089A>T)
3g.4418067T>CCA351632619SUMF1c.668A>G (p.Lys223Arg)
c.593A>G (p.Lys198Arg)
c.445-7089A>G (n.445-7089A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.4418067T>GCA351632621SUMF1c.668A>C (p.Lys223Thr)
c.593A>C (p.Lys198Thr)
c.445-7089A>C (n.445-7089A>C)
3g.4418067T=CA1342154242SUMF1c.668A= (p.Lys223=)
c.593A= (p.Lys198=)
c.445-7089A= (n.445-7089A=)
3g.4418068delCA2573136906SUMF1c.668del (p.Lys223SerfsTer?)
c.593del (p.Lys198SerfsTer?)
c.445-7089del (n.445-7089del)
 ClinVar dbSNP gnomAD v4
3g.4418068T>ACA351632624SUMF1c.667A>T (p.Lys223Ter)
c.592A>T (p.Lys198Ter)
c.445-7090A>T (n.445-7090A>T)
3g.4418068T>CCA351632626SUMF1c.667A>G (p.Lys223Glu)
c.592A>G (p.Lys198Glu)
c.445-7090A>G (n.445-7090A>G)
3g.4418068T>GCA351632628SUMF1c.667A>C (p.Lys223Gln)
c.592A>C (p.Lys198Gln)
c.445-7090A>C (n.445-7090A>C)
3g.4418069C>ACA432313779SUMF1c.666G>T (p.Gly222=)
c.591G>T (p.Gly197=)
c.445-7091G>T (n.445-7091G>T)
3g.4418069C=CA1342154246SUMF1c.666G= (p.Gly222=)
c.591G= (p.Gly197=)
c.445-7091G= (n.445-7091G=)
3g.4418069C>GCA432313782SUMF1c.666G>C (p.Gly222=)
c.591G>C (p.Gly197=)
c.445-7091G>C (n.445-7091G>C)
3g.4418069C>TCA432313785SUMF1c.666G>A (p.Gly222=)
c.591G>A (p.Gly197=)
c.445-7091G>A (n.445-7091G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.4418070C>ACA351632630SUMF1c.665G>T (p.Gly222Val)
c.590G>T (p.Gly197Val)
c.445-7092G>T (n.445-7092G>T)
3g.4418070C=CA1342154250SUMF1c.665G= (p.Gly222=)
c.590G= (p.Gly197=)
c.445-7092G= (n.445-7092G=)
3g.4418070C>GCA351632632SUMF1c.665G>C (p.Gly222Ala)
c.590G>C (p.Gly197Ala)
c.445-7092G>C (n.445-7092G>C)
3g.4418070C>TCA2230504SUMF1c.665G>A (p.Gly222Glu)
c.590G>A (p.Gly197Glu)
c.445-7092G>A (n.445-7092G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418071C>ACA351632640SUMF1c.664G>T (p.Gly222Trp)
c.589G>T (p.Gly197Trp)
c.445-7093G>T (n.445-7093G>T)
3g.4418071C=CA1342154254SUMF1c.664G= (p.Gly222=)
c.589G= (p.Gly197=)
c.445-7093G= (n.445-7093G=)
3g.4418071C>GCA2230505SUMF1c.664G>C (p.Gly222Arg)
c.589G>C (p.Gly197Arg)
c.445-7093G>C (n.445-7093G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418071C>TCA351632643SUMF1c.664G>A (p.Gly222Arg)
c.589G>A (p.Gly197Arg)
c.445-7093G>A (n.445-7093G>A)
3g.4418072T>ACA432313803SUMF1c.663A>T (p.Ala221=)
c.588A>T (p.Ala196=)
c.445-7094A>T (n.445-7094A>T)
3g.4418072T>CCA432313808SUMF1c.663A>G (p.Ala221=)
c.588A>G (p.Ala196=)
c.445-7094A>G (n.445-7094A>G)
 dbSNP gnomAD v4
3g.4418072T>GCA2230506SUMF1c.663A>C (p.Ala221=)
c.588A>C (p.Ala196=)
c.445-7094A>C (n.445-7094A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418072T=CA1342154261SUMF1c.663A= (p.Ala221=)
c.588A= (p.Ala196=)
c.445-7094A= (n.445-7094A=)
3g.4418073G>ACA351632651SUMF1c.662C>T (p.Ala221Val)
c.587C>T (p.Ala196Val)
c.445-7095C>T (n.445-7095C>T)
3g.4418073G>CCA351632654SUMF1c.662C>G (p.Ala221Gly)
c.587C>G (p.Ala196Gly)
c.445-7095C>G (n.445-7095C>G)
3g.4418073G>TCA351632652SUMF1c.662C>A (p.Ala221Glu)
c.587C>A (p.Ala196Glu)
c.445-7095C>A (n.445-7095C>A)
3g.4418073_4418074delinsGCCA1342154265SUMF1c.661_662delinsGC (p.Ala221=)
c.586_587delinsGC (p.Ala196=)
c.445-7096_445-7095delinsGC (n.445-7096_445-7095delinsGC)
3g.4418074C>ACA351632657SUMF1c.661G>T (p.Ala221Ser)
c.586G>T (p.Ala196Ser)
c.445-7096G>T (n.445-7096G>T)
3g.4418074C=CA1342154270SUMF1c.661G= (p.Ala221=)
c.586G= (p.Ala196=)
c.445-7096G= (n.445-7096G=)
3g.4418074C>GCA351632659SUMF1c.661G>C (p.Ala221Pro)
c.586G>C (p.Ala196Pro)
c.445-7096G>C (n.445-7096G>C)
3g.4418074C>TCA2230507SUMF1c.661G>A (p.Ala221Thr)
c.586G>A (p.Ala196Thr)
c.445-7096G>A (n.445-7096G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.4418076delCA212800SUMF1c.661del (p.Ala221GlnfsTer?)
c.586del (p.Ala196GlnfsTer?)
c.445-7096del (n.445-7096del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.4418075C>ACA351632663SUMF1c.660G>T (p.Trp220Cys)
c.585G>T (p.Trp195Cys)
c.445-7097G>T (n.445-7097G>T)
 COSMIC COSMIC
3g.4418075C>GCA351632665SUMF1c.660G>C (p.Trp220Cys)
c.585G>C (p.Trp195Cys)
c.445-7097G>C (n.445-7097G>C)
3g.4418075C>TCA351632667SUMF1c.660G>A (p.Trp220Ter)
c.585G>A (p.Trp195Ter)
c.445-7097G>A (n.445-7097G>A)
3g.4418076C>ACA351632669SUMF1c.659G>T (p.Trp220Leu)
c.584G>T (p.Trp195Leu)
c.445-7098G>T (n.445-7098G>T)
 gnomAD v4
3g.4418076C=CA1342154279SUMF1c.659G= (p.Trp220=)
c.584G= (p.Trp195=)
c.445-7098G= (n.445-7098G=)
3g.4418076C>GCA351632671SUMF1c.659G>C (p.Trp220Ser)
c.584G>C (p.Trp195Ser)
c.445-7098G>C (n.445-7098G>C)
 dbSNP gnomAD v4
3g.4418076C>TCA351632673SUMF1c.659G>A (p.Trp220Ter)
c.584G>A (p.Trp195Ter)
c.445-7098G>A (n.445-7098G>A)
 ClinVar dbSNP gnomAD v4
3g.4418077A>CCA351632675SUMF1c.658T>G (p.Trp220Gly)
c.583T>G (p.Trp195Gly)
c.445-7099T>G (n.445-7099T>G)
3g.4418077A>GCA351632676SUMF1c.658T>C (p.Trp220Arg)
c.583T>C (p.Trp195Arg)
c.445-7099T>C (n.445-7099T>C)
3g.4418077A>TCA351632677SUMF1c.658T>A (p.Trp220Arg)
c.583T>A (p.Trp195Arg)
c.445-7099T>A (n.445-7099T>A)
3g.4418078A>CCA432313850SUMF1c.657T>G (p.Thr219=)
c.582T>G (p.Thr194=)
c.445-7100T>G (n.445-7100T>G)
3g.4418078A>GCA432313856SUMF1c.657T>C (p.Thr219=)
c.582T>C (p.Thr194=)
c.445-7100T>C (n.445-7100T>C)
3g.4418078A>TCA432313858SUMF1c.657T>A (p.Thr219=)
c.582T>A (p.Thr194=)
c.445-7100T>A (n.445-7100T>A)
3g.4418079_4418109delCA2739278161SUMF1c.627_657del (p.Ser210GlyfsTer?)
c.552_582del (p.Ser185GlyfsTer?)
c.445-7130_445-7100del (n.445-7130_445-7100del)
 ClinVar
3g.4418079G>ACA351632680SUMF1c.656C>T (p.Thr219Ile)
c.581C>T (p.Thr194Ile)
c.445-7101C>T (n.445-7101C>T)
3g.4418079G>CCA351632679SUMF1c.656C>G (p.Thr219Ser)
c.581C>G (p.Thr194Ser)
c.445-7101C>G (n.445-7101C>G)
 dbSNP gnomAD v3 gnomAD v4
3g.4418079G=CA1342154282SUMF1c.656C= (p.Thr219=)
c.581C= (p.Thr194=)
c.445-7101C= (n.445-7101C=)
3g.4418079G>TCA351632678SUMF1c.656C>A (p.Thr219Asn)
c.581C>A (p.Thr194Asn)
c.445-7101C>A (n.445-7101C>A)

Number of alleles fetched