Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.240868890_240868892delinsACCCA1339330744AGXTc.25_27delinsACC (p.Thr9=)
n.45_47delinsACC
n.405+1341_405+1343delinsGGT
2g.240868891C>ACA275540AGXTc.26C>A (p.Thr9Asn)
n.46C>A
n.405+1342G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868891C=CA1339330746AGXTc.26C= (p.Thr9=)
n.46C=
n.405+1342G=
2g.240868891C>GCA351312710AGXTc.26C>G (p.Thr9Ser)
n.46C>G
n.405+1342G>C
dbSNP
2g.240868891C>TCA351312704AGXTc.26C>T (p.Thr9Ile)
n.46C>T
n.405+1342G>A
dbSNP gnomAD v4
2g.240868898dupCA345700AGXTc.33dup (p.Lys12GlnfsTer?)
n.53dup
n.405+1342dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.240868897_240868898dupCA2664004508AGXTc.32_33dup (p.Lys12ProfsTer?)
n.52_53dup
n.405+1341_405+1342dup
gnomAD v4
2g.240868898delCA273942AGXTc.33del (p.Lys12ArgfsTer?)
n.53del
n.405+1342del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.240868897_240868898delCA275814AGXTc.32_33del (p.Pro11GlnfsTer?)
n.52_53del
n.405+1341_405+1342del
ClinVar dbSNP
2g.240868891_240868892insACA2573135689AGXTc.26_27insA (p.Lys12GlnfsTer?)
n.46_47insA
n.405+1341_405+1342insT
ClinVar dbSNP
2g.240868892C>ACA275541AGXTc.27C>A (p.Thr9=)
n.47C>A
n.405+1341G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868892C=CA1339330747AGXTc.27C= (p.Thr9=)
n.47C=
n.405+1341G=
2g.240868892C>GCA2208962AGXTc.27C>G (p.Thr9=)
n.47C>G
n.405+1341G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868892C>TCA432234736AGXTc.27C>T (p.Thr9=)
n.47C>T
n.405+1341G>A
ClinVar dbSNP COSMIC
2g.240868893C>ACA2208963AGXTc.28C>A (p.Pro10Thr)
n.48C>A
n.405+1340G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868893C=CA1339330748AGXTc.28C= (p.Pro10=)
n.48C=
n.405+1340G=
2g.240868893C>GCA2208964AGXTc.28C>G (p.Pro10Ala)
n.48C>G
n.405+1340G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868893C>TCA275619AGXTc.28C>T (p.Pro10Ser)
n.48C>T
n.405+1340G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868893_240868894delinsACA2586971627AGXTc.28_29delinsA (p.Pro10ThrfsTer?)
n.48_49delinsA
n.405+1339_405+1340delinsT
2g.240868894C>ACA2208965AGXTc.29C>A (p.Pro10His)
n.49C>A
n.405+1339G>T
dbSNP ExAC gnomAD v2
2g.240868894C=CA1339330749AGXTc.29C= (p.Pro10=)
n.49C=
n.405+1339G=
2g.240868894C>GCA351312723AGXTc.29C>G (p.Pro10Arg)
n.49C>G
n.405+1339G>C
2g.240868894C>TCA351312726AGXTc.29C>T (p.Pro10Leu)
n.49C>T
n.405+1339G>A
dbSNP gnomAD v2 gnomAD v4
2g.240868895C>ACA432234740AGXTc.30C>A (p.Pro10=)
n.50C>A
n.405+1338G>T
2g.240868895C>GCA432234741AGXTc.30C>G (p.Pro10=)
n.50C>G
n.405+1338G>C
2g.240868895C>TCA432234742AGXTc.30C>T (p.Pro10=)
n.50C>T
n.405+1338G>A
2g.240868896C>ACA2208967AGXTc.31C>A (p.Pro11Thr)
n.51C>A
n.405+1337G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868896C=CA1339330750AGXTc.31C= (p.Pro11=)
n.51C=
n.405+1337G=
2g.240868896C>GCA2208966AGXTc.31C>G (p.Pro11Ala)
n.51C>G
n.405+1337G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.240868896C>TCA2208968AGXTc.31C>T (p.Pro11Ser)
n.51C>T
n.405+1337G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868896_240868897insTCA2573135690AGXTc.31_32insT (p.Pro11LeufsTer?)
n.51_52insT
n.405+1336_405+1337insA
ClinVar dbSNP
2g.240868897C>ACA275544AGXTc.32C>A (p.Pro11His)
n.52C>A
n.405+1336G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868897C=CA1339330751AGXTc.32C= (p.Pro11=)
n.52C=
n.405+1336G=
2g.240868897C>GCA275621AGXTc.32C>G (p.Pro11Arg)
n.52C>G
n.405+1336G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868897C>TCA200272AGXTc.32C>T (p.Pro11Leu)
n.52C>T
n.405+1336G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868897_240868898delinsTGCA2499215811AGXTc.32_33delinsTG (p.Pro11Leu)
n.52_53delinsTG
n.405+1335_405+1336delinsCA
ClinVar dbSNP
2g.240868897_240868898insTCA2664004635AGXTc.32_33insT (p.Lys12GlnfsTer?)
n.52_53insT
n.405+1335_405+1336insA
gnomAD v4
2g.240868898C>ACA432234746AGXTc.33C>A (p.Pro11=)
n.53C>A
n.405+1335G>T
ClinVar dbSNP gnomAD v4
2g.240868898C=CA1339330752AGXTc.33C= (p.Pro11=)
n.53C=
n.405+1335G=
2g.240868898C>GCA432234747AGXTc.33C>G (p.Pro11=)
n.53C>G
n.405+1335G>C
ClinVar dbSNP gnomAD v2
2g.240868898C>TCA432234748AGXTc.33C>T (p.Pro11=)
n.53C>T
n.405+1335G>A
dbSNP gnomAD v2 gnomAD v4
2g.240868899A>CCA351312740AGXTc.34A>C (p.Lys12Gln)
n.54A>C
n.405+1334T>G
dbSNP
2g.240868899A>GCA351312742AGXTc.34A>G (p.Lys12Glu)
n.54A>G
n.405+1334T>C
2g.240868899A>TCA351312745AGXTc.34A>T (p.Lys12Ter)
n.54A>T
n.405+1334T>A
2g.240868899_240868900dupCA2586971628AGXTc.34_35dup (p.Ala13ArgfsTer?)
n.54_55dup
n.405+1333_405+1334dup
2g.240868900delCA2664004642AGXTc.35del (p.Lys12ArgfsTer?)
n.55del
n.405+1334del
gnomAD v4
2g.240868900A=CA1339330753AGXTc.35A= (p.Lys12=)
n.55A=
n.405+1333T=
2g.240868900A>CCA351312749AGXTc.35A>C (p.Lys12Thr)
n.55A>C
n.405+1333T>G
2g.240868900A>GCA275546AGXTc.35A>G (p.Lys12Arg)
n.55A>G
n.405+1333T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.240868900A>TCA351312753AGXTc.35A>T (p.Lys12Met)
n.55A>T
n.405+1333T>A

Number of alleles fetched