Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240874000C>ACA432024127AGXTc.618C>A (p.Gly206=)
n.332+951C>A
2g.240874000C=CA1339333567AGXTc.618C= (p.Gly206=)
n.332+951C=
2g.240874000C>GCA432024128AGXTc.618C>G (p.Gly206=)
n.332+951C>G
2g.240874000C>TCA432024129AGXTc.618C>T (p.Gly206=)
n.332+951C>T
dbSNP gnomAD v2 gnomAD v4
2g.240874001T>ACA351316834AGXTc.619T>A (p.Ser207Thr)
n.332+952T>A
2g.240874001T>CCA351316839AGXTc.619T>C (p.Ser207Pro)
n.332+952T>C
2g.240874001T>GCA351316837AGXTc.619T>G (p.Ser207Ala)
n.332+952T>G
2g.240874002C>ACA351316841AGXTc.620C>A (p.Ser207Tyr)
n.332+953C>A
2g.240874002C>GCA351316843AGXTc.620C>G (p.Ser207Cys)
n.332+953C>G
2g.240874002C>TCA351316845AGXTc.620C>T (p.Ser207Phe)
n.332+953C>T
2g.240874003C>ACA432024133AGXTc.621C>A (p.Ser207=)
n.332+954C>A
2g.240874003C>GCA432024134AGXTc.621C>G (p.Ser207=)
n.332+954C>G
2g.240874003C>TCA432024136AGXTc.621C>T (p.Ser207=)
n.332+954C>T
2g.240874004C>ACA2209174AGXTc.622C>A (p.Gln208Lys)
n.332+955C>A
dbSNP ExAC gnomAD v2
2g.240874004C=CA1339333568AGXTc.622C= (p.Gln208=)
n.332+955C=
2g.240874004C>GCA351316848AGXTc.622C>G (p.Gln208Glu)
n.332+955C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240874004C>TCA351316850AGXTc.622C>T (p.Gln208Ter)
n.332+955C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.240874005A=CA1339333569AGXTc.623A= (p.Gln208=)
n.332+956A=
2g.240874005A>CCA351316852AGXTc.623A>C (p.Gln208Pro)
n.332+956A>C
2g.240874005A>GCA2209175AGXTc.623A>G (p.Gln208Arg)
n.332+956A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.240874005A>TCA351316854AGXTc.623A>T (p.Gln208Leu)
n.332+956A>T
2g.240874006G>ACA432024140AGXTc.624G>A (p.Gln208=)
n.332+957G>A
ClinVar dbSNP
2g.240874006G>CCA351316856AGXTc.624G>C (p.Gln208His)
n.332+957G>C
COSMIC
2g.240874006G>TCA351316858AGXTc.624G>T (p.Gln208His)
n.332+957G>T
2g.240874007A>CCA351316861AGXTc.625A>C (p.Lys209Gln)
n.332+958A>C
2g.240874007A>GCA351316865AGXTc.625A>G (p.Lys209Glu)
n.332+958A>G
gnomAD v4 COSMIC
2g.240874007A>TCA351316862AGXTc.625A>T (p.Lys209Ter)
n.332+958A>T
2g.240874008delCA2697550616AGXTc.626del (p.Lys209ArgfsTer3)
n.332+959del
ClinVar
2g.240874008A>CCA351316867AGXTc.626A>C (p.Lys209Thr)
n.332+959A>C
gnomAD v4
2g.240874008A>GCA351316869AGXTc.626A>G (p.Lys209Arg)
n.332+959A>G
COSMIC
2g.240874008A>TCA351316871AGXTc.626A>T (p.Lys209Met)
n.332+959A>T
2g.240874009G>ACA432024144AGXTc.627G>A (p.Lys209=)
n.332+960G>A
ClinVar COSMIC
2g.240874009G>CCA351316873AGXTc.627G>C (p.Lys209Asn)
n.332+960G>C
2g.240874009G=CA1339333570AGXTc.627G= (p.Lys209=)
n.332+960G=
2g.240874009G>TCA351316875AGXTc.627G>T (p.Lys209Asn)
n.332+960G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.240874010G>ACA351316878AGXTc.628G>A (p.Ala210Thr)
n.332+961G>A
gnomAD v4
2g.240874010G>CCA275726AGXTc.628G>C (p.Ala210Pro)
n.332+961G>C
ClinVar dbSNP
2g.240874010G=CA1339333571AGXTc.628G= (p.Ala210=)
n.332+961G=
2g.240874010G>TCA351316881AGXTc.628G>T (p.Ala210Ser)
n.332+961G>T
2g.240874011C>ACA351316883AGXTc.629C>A (p.Ala210Asp)
n.332+962C>A
2g.240874011C>GCA351316885AGXTc.629C>G (p.Ala210Gly)
n.332+962C>G
2g.240874011C>TCA351316887AGXTc.629C>T (p.Ala210Val)
n.332+962C>T
gnomAD v4
2g.240874012C>ACA432024154AGXTc.630C>A (p.Ala210=)
n.332+963C>A
2g.240874012C=CA1339333572AGXTc.630C= (p.Ala210=)
n.332+963C=
2g.240874012C>GCA432024155AGXTc.630C>G (p.Ala210=)
n.332+963C>G
gnomAD v4
2g.240874012C>TCA432024156AGXTc.630C>T (p.Ala210=)
n.332+963C>T
ClinVar dbSNP gnomAD v4
2g.240874013C>ACA351316889AGXTc.631C>A (p.Leu211Met)
n.332+964C>A
2g.240874013C>GCA351316890AGXTc.631C>G (p.Leu211Val)
n.332+964C>G
2g.240874013C>TCA432024157AGXTc.631C>T (p.Leu211=)
n.332+964C>T
COSMIC
2g.240874014T>ACA351316893AGXTc.632T>A (p.Leu211Gln)
n.332+965T>A

Number of alleles fetched