Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.74896126_74896132delCA2629530325MPIc.671-26_671-20del (n.671-26_671-20del)
c.488-26_488-20del (n.488-26_488-20del)
c.521-26_521-20del (n.521-26_521-20del)
c.*567-26_*567-20del (n.*567-26_*567-20del)
c.611-26_611-20del (n.611-26_611-20del)
c.256-1413_256-1407del (n.256-1413_256-1407del)
c.338-26_338-20del (n.338-26_338-20del)
n.693_699del
c.449-26_449-20del (n.449-26_449-20del)
c.659-26_659-20del (n.659-26_659-20del)
gnomAD v4
15g.74896131G>ACA2187901625MPIc.671-21G>A (n.671-21G>A)
c.488-21G>A (n.488-21G>A)
c.521-21G>A (n.521-21G>A)
c.*567-21G>A (n.*567-21G>A)
c.611-21G>A (n.611-21G>A)
c.256-1408G>A (n.256-1408G>A)
c.338-21G>A (n.338-21G>A)
n.698G>A
c.449-21G>A (n.449-21G>A)
c.659-21G>A (n.659-21G>A)
dbSNP
15g.74896131G=CA2187901622MPIc.671-21G= (n.671-21G=)
c.488-21G= (n.488-21G=)
c.521-21G= (n.521-21G=)
c.*567-21G= (n.*567-21G=)
c.611-21G= (n.611-21G=)
c.256-1408G= (n.256-1408G=)
c.338-21G= (n.338-21G=)
n.698G=
c.449-21G= (n.449-21G=)
c.659-21G= (n.659-21G=)
15g.74896133G>ACA2629530335MPIc.671-19G>A (n.671-19G>A)
c.488-19G>A (n.488-19G>A)
c.521-19G>A (n.521-19G>A)
c.*567-19G>A (n.*567-19G>A)
c.611-19G>A (n.611-19G>A)
c.256-1406G>A (n.256-1406G>A)
c.338-19G>A (n.338-19G>A)
n.700G>A
c.449-19G>A (n.449-19G>A)
c.659-19G>A (n.659-19G>A)
gnomAD v4
15g.74896134G>ACA2629530337MPIc.671-18G>A (n.671-18G>A)
c.488-18G>A (n.488-18G>A)
c.521-18G>A (n.521-18G>A)
c.*567-18G>A (n.*567-18G>A)
c.611-18G>A (n.611-18G>A)
c.256-1405G>A (n.256-1405G>A)
c.338-18G>A (n.338-18G>A)
n.701G>A
c.449-18G>A (n.449-18G>A)
c.659-18G>A (n.659-18G>A)
gnomAD v4
15g.74896136G>ACA7662513MPIc.671-16G>A (n.671-16G>A)
c.488-16G>A (n.488-16G>A)
c.521-16G>A (n.521-16G>A)
c.*567-16G>A (n.*567-16G>A)
c.611-16G>A (n.611-16G>A)
c.256-1403G>A (n.256-1403G>A)
c.338-16G>A (n.338-16G>A)
n.703G>A
c.449-16G>A (n.449-16G>A)
c.659-16G>A (n.659-16G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896136G=CA2187901627MPIc.671-16G= (n.671-16G=)
c.488-16G= (n.488-16G=)
c.521-16G= (n.521-16G=)
c.*567-16G= (n.*567-16G=)
c.611-16G= (n.611-16G=)
c.256-1403G= (n.256-1403G=)
c.338-16G= (n.338-16G=)
n.703G=
c.449-16G= (n.449-16G=)
c.659-16G= (n.659-16G=)
15g.74896136_74896138delinsGCTCA2187901629MPIc.671-16_671-14delinsGCT (n.671-16_671-14delinsGCT)
c.488-16_488-14delinsGCT (n.488-16_488-14delinsGCT)
c.521-16_521-14delinsGCT (n.521-16_521-14delinsGCT)
c.*567-16_*567-14delinsGCT (n.*567-16_*567-14delinsGCT)
c.611-16_611-14delinsGCT (n.611-16_611-14delinsGCT)
c.256-1403_256-1401delinsGCT (n.256-1403_256-1401delinsGCT)
c.338-16_338-14delinsGCT (n.338-16_338-14delinsGCT)
n.703_705delinsGCT
c.449-16_449-14delinsGCT (n.449-16_449-14delinsGCT)
c.659-16_659-14delinsGCT (n.659-16_659-14delinsGCT)
15g.74896137C=CA2187901638MPIc.671-15C= (n.671-15C=)
c.488-15C= (n.488-15C=)
c.521-15C= (n.521-15C=)
c.*567-15C= (n.*567-15C=)
c.611-15C= (n.611-15C=)
c.256-1402C= (n.256-1402C=)
c.338-15C= (n.338-15C=)
n.704C=
c.449-15C= (n.449-15C=)
c.659-15C= (n.659-15C=)
15g.74896137C>GCA2697549215MPIc.671-15C>G (n.671-15C>G)
c.488-15C>G (n.488-15C>G)
c.521-15C>G (n.521-15C>G)
c.*567-15C>G (n.*567-15C>G)
c.611-15C>G (n.611-15C>G)
c.256-1402C>G (n.256-1402C>G)
c.338-15C>G (n.338-15C>G)
n.704C>G
c.449-15C>G (n.449-15C>G)
c.659-15C>G (n.659-15C>G)
ClinVar
15g.74896137C>TCA7662514MPIc.671-15C>T (n.671-15C>T)
c.488-15C>T (n.488-15C>T)
c.521-15C>T (n.521-15C>T)
c.*567-15C>T (n.*567-15C>T)
c.611-15C>T (n.611-15C>T)
c.256-1402C>T (n.256-1402C>T)
c.338-15C>T (n.338-15C>T)
n.704C>T
c.449-15C>T (n.449-15C>T)
c.659-15C>T (n.659-15C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896139_74896140delCA7662512MPIc.671-13_671-12del (n.671-13_671-12del)
c.488-13_488-12del (n.488-13_488-12del)
c.521-13_521-12del (n.521-13_521-12del)
c.*567-13_*567-12del (n.*567-13_*567-12del)
c.611-13_611-12del (n.611-13_611-12del)
c.256-1400_256-1399del (n.256-1400_256-1399del)
c.338-13_338-12del (n.338-13_338-12del)
n.706_707del
c.449-13_449-12del (n.449-13_449-12del)
c.659-13_659-12del (n.659-13_659-12del)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896138_74896145dupCA619413139MPIc.671-14_671-7dup (n.671-14_671-7dup)
c.488-14_488-7dup (n.488-14_488-7dup)
c.521-14_521-7dup (n.521-14_521-7dup)
c.*567-14_*567-7dup (n.*567-14_*567-7dup)
c.611-14_611-7dup (n.611-14_611-7dup)
c.256-1401_256-1394dup (n.256-1401_256-1394dup)
c.338-14_338-7dup (n.338-14_338-7dup)
n.705_712dup
c.449-14_449-7dup (n.449-14_449-7dup)
c.659-14_659-7dup (n.659-14_659-7dup)
dbSNP gnomAD v2 gnomAD v4
15g.74896140T>CCA2575791706MPIc.671-12T>C (n.671-12T>C)
c.488-12T>C (n.488-12T>C)
c.521-12T>C (n.521-12T>C)
c.*567-12T>C (n.*567-12T>C)
c.611-12T>C (n.611-12T>C)
c.256-1399T>C (n.256-1399T>C)
c.338-12T>C (n.338-12T>C)
n.707T>C
c.449-12T>C (n.449-12T>C)
c.659-12T>C (n.659-12T>C)
gnomAD v4
15g.74896141G>ACA619413140MPIc.671-11G>A (n.671-11G>A)
c.488-11G>A (n.488-11G>A)
c.521-11G>A (n.521-11G>A)
c.*567-11G>A (n.*567-11G>A)
c.611-11G>A (n.611-11G>A)
c.256-1398G>A (n.256-1398G>A)
c.338-11G>A (n.338-11G>A)
n.708G>A
c.449-11G>A (n.449-11G>A)
c.659-11G>A (n.659-11G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896141G>CCA2629530356MPIc.671-11G>C (n.671-11G>C)
c.488-11G>C (n.488-11G>C)
c.521-11G>C (n.521-11G>C)
c.*567-11G>C (n.*567-11G>C)
c.611-11G>C (n.611-11G>C)
c.256-1398G>C (n.256-1398G>C)
c.338-11G>C (n.338-11G>C)
n.708G>C
c.449-11G>C (n.449-11G>C)
c.659-11G>C (n.659-11G>C)
gnomAD v4
15g.74896141G=CA2187901642MPIc.671-11G= (n.671-11G=)
c.488-11G= (n.488-11G=)
c.521-11G= (n.521-11G=)
c.*567-11G= (n.*567-11G=)
c.611-11G= (n.611-11G=)
c.256-1398G= (n.256-1398G=)
c.338-11G= (n.338-11G=)
n.708G=
c.449-11G= (n.449-11G=)
c.659-11G= (n.659-11G=)
15g.74896143G>CCA272825361MPIc.671-9G>C (n.671-9G>C)
c.488-9G>C (n.488-9G>C)
c.521-9G>C (n.521-9G>C)
c.*567-9G>C (n.*567-9G>C)
c.611-9G>C (n.611-9G>C)
c.256-1396G>C (n.256-1396G>C)
c.338-9G>C (n.338-9G>C)
n.710G>C
c.449-9G>C (n.449-9G>C)
c.659-9G>C (n.659-9G>C)
ClinVar dbSNP gnomAD v4
15g.74896143G=CA2187901645MPIc.671-9G= (n.671-9G=)
c.488-9G= (n.488-9G=)
c.521-9G= (n.521-9G=)
c.*567-9G= (n.*567-9G=)
c.611-9G= (n.611-9G=)
c.256-1396G= (n.256-1396G=)
c.338-9G= (n.338-9G=)
n.710G=
c.449-9G= (n.449-9G=)
c.659-9G= (n.659-9G=)
15g.74896143G>TCA2629530363MPIc.671-9G>T (n.671-9G>T)
c.488-9G>T (n.488-9G>T)
c.521-9G>T (n.521-9G>T)
c.*567-9G>T (n.*567-9G>T)
c.611-9G>T (n.611-9G>T)
c.256-1396G>T (n.256-1396G>T)
c.338-9G>T (n.338-9G>T)
n.710G>T
c.449-9G>T (n.449-9G>T)
c.659-9G>T (n.659-9G>T)
gnomAD v4
15g.74896144A=CA2187901648MPIc.671-8A= (n.671-8A=)
c.488-8A= (n.488-8A=)
c.521-8A= (n.521-8A=)
c.*567-8A= (n.*567-8A=)
c.611-8A= (n.611-8A=)
c.256-1395A= (n.256-1395A=)
c.338-8A= (n.338-8A=)
n.711A=
c.449-8A= (n.449-8A=)
c.659-8A= (n.659-8A=)
15g.74896144A>TCA7662515MPIc.671-8A>T (n.671-8A>T)
c.488-8A>T (n.488-8A>T)
c.521-8A>T (n.521-8A>T)
c.*567-8A>T (n.*567-8A>T)
c.611-8A>T (n.611-8A>T)
c.256-1395A>T (n.256-1395A>T)
c.338-8A>T (n.338-8A>T)
n.711A>T
c.449-8A>T (n.449-8A>T)
c.659-8A>T (n.659-8A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896145C>TCA2573151155MPIc.671-7C>T (n.671-7C>T)
c.488-7C>T (n.488-7C>T)
c.521-7C>T (n.521-7C>T)
c.*567-7C>T (n.*567-7C>T)
c.611-7C>T (n.611-7C>T)
c.256-1394C>T (n.256-1394C>T)
c.338-7C>T (n.338-7C>T)
n.712C>T
c.449-7C>T (n.449-7C>T)
c.659-7C>T (n.659-7C>T)
ClinVar dbSNP
15g.74896147C=CA2187901653MPIc.671-5C= (n.671-5C=)
c.488-5C= (n.488-5C=)
c.521-5C= (n.521-5C=)
c.*567-5C= (n.*567-5C=)
c.611-5C= (n.611-5C=)
c.256-1392C= (n.256-1392C=)
c.338-5C= (n.338-5C=)
n.714C=
c.449-5C= (n.449-5C=)
c.659-5C= (n.659-5C=)
15g.74896147C>GCA2187901654MPIc.671-5C>G (n.671-5C>G)
c.488-5C>G (n.488-5C>G)
c.521-5C>G (n.521-5C>G)
c.*567-5C>G (n.*567-5C>G)
c.611-5C>G (n.611-5C>G)
c.256-1392C>G (n.256-1392C>G)
c.338-5C>G (n.338-5C>G)
n.714C>G
c.449-5C>G (n.449-5C>G)
c.659-5C>G (n.659-5C>G)
dbSNP
15g.74896148T>GCA7662516MPIc.671-4T>G (n.671-4T>G)
c.488-4T>G (n.488-4T>G)
c.521-4T>G (n.521-4T>G)
c.*567-4T>G (n.*567-4T>G)
c.611-4T>G (n.611-4T>G)
c.256-1391T>G (n.256-1391T>G)
c.338-4T>G (n.338-4T>G)
n.715T>G
c.449-4T>G (n.449-4T>G)
c.659-4T>G (n.659-4T>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896148T=CA2187901665MPIc.671-4T= (n.671-4T=)
c.488-4T= (n.488-4T=)
c.521-4T= (n.521-4T=)
c.*567-4T= (n.*567-4T=)
c.611-4T= (n.611-4T=)
c.256-1391T= (n.256-1391T=)
c.338-4T= (n.338-4T=)
n.715T=
c.449-4T= (n.449-4T=)
c.659-4T= (n.659-4T=)
15g.74896150A=CA2187901673MPIc.671-2A= (n.671-2A=)
c.488-2A= (n.488-2A=)
c.521-2A= (n.521-2A=)
c.*567-2A= (n.*567-2A=)
c.611-2A= (n.611-2A=)
c.256-1389A= (n.256-1389A=)
c.338-2A= (n.338-2A=)
n.717A=
c.449-2A= (n.449-2A=)
c.659-2A= (n.659-2A=)
15g.74896150A>CCA393175752MPIc.671-2A>C (n.671-2A>C)
c.488-2A>C (n.488-2A>C)
c.521-2A>C (n.521-2A>C)
c.*567-2A>C (n.*567-2A>C)
c.611-2A>C (n.611-2A>C)
c.256-1389A>C (n.256-1389A>C)
c.338-2A>C (n.338-2A>C)
n.717A>C
c.449-2A>C (n.449-2A>C)
c.659-2A>C (n.659-2A>C)
15g.74896150A>GCA393175753MPIc.671-2A>G (n.671-2A>G)
c.488-2A>G (n.488-2A>G)
c.521-2A>G (n.521-2A>G)
c.*567-2A>G (n.*567-2A>G)
c.611-2A>G (n.611-2A>G)
c.256-1389A>G (n.256-1389A>G)
c.338-2A>G (n.338-2A>G)
n.717A>G
c.449-2A>G (n.449-2A>G)
c.659-2A>G (n.659-2A>G)
dbSNP gnomAD v3 gnomAD v4
15g.74896150A>TCA393175754MPIc.671-2A>T (n.671-2A>T)
c.488-2A>T (n.488-2A>T)
c.521-2A>T (n.521-2A>T)
c.*567-2A>T (n.*567-2A>T)
c.611-2A>T (n.611-2A>T)
c.256-1389A>T (n.256-1389A>T)
c.338-2A>T (n.338-2A>T)
n.717A>T
c.449-2A>T (n.449-2A>T)
c.659-2A>T (n.659-2A>T)
15g.74896151G>ACA393175755MPIc.671-1G>A (n.671-1G>A)
c.488-1G>A (n.488-1G>A)
c.521-1G>A (n.521-1G>A)
c.*567-1G>A (n.*567-1G>A)
c.611-1G>A (n.611-1G>A)
c.256-1388G>A (n.256-1388G>A)
c.338-1G>A (n.338-1G>A)
n.718G>A
c.449-1G>A (n.449-1G>A)
c.659-1G>A (n.659-1G>A)
dbSNP gnomAD v3 gnomAD v4
15g.74896151G>CCA393175756MPIc.671-1G>C (n.671-1G>C)
c.488-1G>C (n.488-1G>C)
c.521-1G>C (n.521-1G>C)
c.*567-1G>C (n.*567-1G>C)
c.611-1G>C (n.611-1G>C)
c.256-1388G>C (n.256-1388G>C)
c.338-1G>C (n.338-1G>C)
n.718G>C
c.449-1G>C (n.449-1G>C)
c.659-1G>C (n.659-1G>C)
15g.74896151G=CA2187901678MPIc.671-1G= (n.671-1G=)
c.488-1G= (n.488-1G=)
c.521-1G= (n.521-1G=)
c.*567-1G= (n.*567-1G=)
c.611-1G= (n.611-1G=)
c.256-1388G= (n.256-1388G=)
c.338-1G= (n.338-1G=)
n.718G=
c.449-1G= (n.449-1G=)
c.659-1G= (n.659-1G=)
15g.74896151G>TCA393175757MPIc.671-1G>T (n.671-1G>T)
c.488-1G>T (n.488-1G>T)
c.521-1G>T (n.521-1G>T)
c.*567-1G>T (n.*567-1G>T)
c.611-1G>T (n.611-1G>T)
c.256-1388G>T (n.256-1388G>T)
c.338-1G>T (n.338-1G>T)
n.718G>T
c.449-1G>T (n.449-1G>T)
c.659-1G>T (n.659-1G>T)
15g.74896152C>ACA393175758MPIc.671C>A (p.Ala224Glu)
c.488C>A (p.Thr163Lys)
c.521C>A (p.Ala174Glu)
c.*567C>A (n.*567C>A)
c.611C>A (p.Ala204Glu)
c.256-1387C>A (n.256-1387C>A)
c.338C>A (p.Thr113Lys)
n.719C>A
c.449C>A (p.Thr150Lys)
c.659C>A (p.Ala220Glu)
gnomAD v4
15g.74896152C=CA2187901682MPIc.671C= (p.Ala224=)
c.488C= (p.Thr163=)
c.521C= (p.Ala174=)
c.*567C= (n.*567C=)
c.611C= (p.Ala204=)
c.256-1387C= (n.256-1387C=)
c.338C= (p.Thr113=)
n.719C=
c.449C= (p.Thr150=)
c.659C= (p.Ala220=)
15g.74896152C>GCA393175759MPIc.671C>G (p.Ala224Gly)
c.488C>G (p.Thr163Arg)
c.521C>G (p.Ala174Gly)
c.*567C>G (n.*567C>G)
c.611C>G (p.Ala204Gly)
c.256-1387C>G (n.256-1387C>G)
c.338C>G (p.Thr113Arg)
n.719C>G
c.449C>G (p.Thr150Arg)
c.659C>G (p.Ala220Gly)
15g.74896152C>TCA7662517MPIc.671C>T (p.Ala224Val)
c.488C>T (p.Thr163Met)
c.521C>T (p.Ala174Val)
c.*567C>T (n.*567C>T)
c.611C>T (p.Ala204Val)
c.256-1387C>T (n.256-1387C>T)
c.338C>T (p.Thr113Met)
n.719C>T
c.449C>T (p.Thr150Met)
c.659C>T (p.Ala220Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896153G>ACA7662518MPIc.672G>A (p.Ala224=)
c.489G>A (p.Thr163=)
c.522G>A (p.Ala174=)
c.*568G>A (n.*568G>A)
c.612G>A (p.Ala204=)
c.256-1386G>A (n.256-1386G>A)
c.339G>A (p.Thr113=)
n.720G>A
c.450G>A (p.Thr150=)
c.660G>A (p.Ala220=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
15g.74896153G>CCA491491349MPIc.672G>C (p.Ala224=)
c.489G>C (p.Thr163=)
c.522G>C (p.Ala174=)
c.*568G>C (n.*568G>C)
c.612G>C (p.Ala204=)
c.256-1386G>C (n.256-1386G>C)
c.339G>C (p.Thr113=)
n.720G>C
c.450G>C (p.Thr150=)
c.660G>C (p.Ala220=)
ClinVar dbSNP
15g.74896153G=CA2187901693MPIc.672G= (p.Ala224=)
c.489G= (p.Thr163=)
c.522G= (p.Ala174=)
c.*568G= (n.*568G=)
c.612G= (p.Ala204=)
c.256-1386G= (n.256-1386G=)
c.339G= (p.Thr113=)
n.720G=
c.450G= (p.Thr150=)
c.660G= (p.Ala220=)
15g.74896153G>TCA491491350MPIc.672G>T (p.Ala224=)
c.489G>T (p.Thr163=)
c.522G>T (p.Ala174=)
c.*568G>T (n.*568G>T)
c.612G>T (p.Ala204=)
c.256-1386G>T (n.256-1386G>T)
c.339G>T (p.Thr113=)
n.720G>T
c.450G>T (p.Thr150=)
c.660G>T (p.Ala220=)
gnomAD v4
15g.74896154G>ACA393175760MPIc.673G>A (p.Ala225Thr)
c.490G>A (p.Ala164Thr)
c.523G>A (p.Ala175Thr)
c.*569G>A (n.*569G>A)
c.613G>A (p.Ala205Thr)
c.256-1385G>A (n.256-1385G>A)
c.340G>A (p.Ala114Thr)
n.721G>A
c.451G>A (p.Ala151Thr)
c.661G>A (p.Ala221Thr)
15g.74896154G>CCA393175761MPIc.673G>C (p.Ala225Pro)
c.490G>C (p.Ala164Pro)
c.523G>C (p.Ala175Pro)
c.*569G>C (n.*569G>C)
c.613G>C (p.Ala205Pro)
c.256-1385G>C (n.256-1385G>C)
c.340G>C (p.Ala114Pro)
n.721G>C
c.451G>C (p.Ala151Pro)
c.661G>C (p.Ala221Pro)
15g.74896154G>TCA393175762MPIc.673G>T (p.Ala225Ser)
c.490G>T (p.Ala164Ser)
c.523G>T (p.Ala175Ser)
c.*569G>T (n.*569G>T)
c.613G>T (p.Ala205Ser)
c.256-1385G>T (n.256-1385G>T)
c.340G>T (p.Ala114Ser)
n.721G>T
c.451G>T (p.Ala151Ser)
c.661G>T (p.Ala221Ser)
15g.74896155C>ACA393175763MPIc.674C>A (p.Ala225Asp)
c.491C>A (p.Ala164Asp)
c.524C>A (p.Ala175Asp)
c.*570C>A (n.*570C>A)
c.614C>A (p.Ala205Asp)
c.256-1384C>A (n.256-1384C>A)
c.341C>A (p.Ala114Asp)
n.722C>A
c.452C>A (p.Ala151Asp)
c.662C>A (p.Ala221Asp)
15g.74896155C>GCA393175764MPIc.674C>G (p.Ala225Gly)
c.491C>G (p.Ala164Gly)
c.524C>G (p.Ala175Gly)
c.*570C>G (n.*570C>G)
c.614C>G (p.Ala205Gly)
c.256-1384C>G (n.256-1384C>G)
c.341C>G (p.Ala114Gly)
n.722C>G
c.452C>G (p.Ala151Gly)
c.662C>G (p.Ala221Gly)
15g.74896155C>TCA393175765MPIc.674C>T (p.Ala225Val)
c.491C>T (p.Ala164Val)
c.524C>T (p.Ala175Val)
c.*570C>T (n.*570C>T)
c.614C>T (p.Ala205Val)
c.256-1384C>T (n.256-1384C>T)
c.341C>T (p.Ala114Val)
n.722C>T
c.452C>T (p.Ala151Val)
c.662C>T (p.Ala221Val)
15g.74896156T>ACA491491352MPIc.675T>A (p.Ala225=)
c.492T>A (p.Ala164=)
c.525T>A (p.Ala175=)
c.*571T>A (n.*571T>A)
c.615T>A (p.Ala205=)
c.256-1383T>A (n.256-1383T>A)
c.342T>A (p.Ala114=)
n.723T>A
c.453T>A (p.Ala151=)
c.663T>A (p.Ala221=)
15g.74896156T>CCA491491354MPIc.675T>C (p.Ala225=)
c.492T>C (p.Ala164=)
c.525T>C (p.Ala175=)
c.*571T>C (n.*571T>C)
c.615T>C (p.Ala205=)
c.256-1383T>C (n.256-1383T>C)
c.342T>C (p.Ala114=)
n.723T>C
c.453T>C (p.Ala151=)
c.663T>C (p.Ala221=)
ClinVar
15g.74896156T>GCA491491355MPIc.675T>G (p.Ala225=)
c.492T>G (p.Ala164=)
c.525T>G (p.Ala175=)
c.*571T>G (n.*571T>G)
c.615T>G (p.Ala205=)
c.256-1383T>G (n.256-1383T>G)
c.342T>G (p.Ala114=)
n.723T>G
c.453T>G (p.Ala151=)
c.663T>G (p.Ala221=)
15g.74896157G>ACA393175766MPIc.676G>A (p.Ala226Thr)
c.493G>A (p.Ala165Thr)
c.526G>A (p.Ala176Thr)
c.*572G>A (n.*572G>A)
c.616G>A (p.Ala206Thr)
c.256-1382G>A (n.256-1382G>A)
c.343G>A (p.Ala115Thr)
n.724G>A
c.454G>A (p.Ala152Thr)
c.664G>A (p.Ala222Thr)
15g.74896157G>CCA393175767MPIc.676G>C (p.Ala226Pro)
c.493G>C (p.Ala165Pro)
c.526G>C (p.Ala176Pro)
c.*572G>C (n.*572G>C)
c.616G>C (p.Ala206Pro)
c.256-1382G>C (n.256-1382G>C)
c.343G>C (p.Ala115Pro)
n.724G>C
c.454G>C (p.Ala152Pro)
c.664G>C (p.Ala222Pro)
gnomAD v4
15g.74896157G=CA2187901701MPIc.676G= (p.Ala226=)
c.493G= (p.Ala165=)
c.526G= (p.Ala176=)
c.*572G= (n.*572G=)
c.616G= (p.Ala206=)
c.256-1382G= (n.256-1382G=)
c.343G= (p.Ala115=)
n.724G=
c.454G= (p.Ala152=)
c.664G= (p.Ala222=)
15g.74896157G>TCA7662519MPIc.676G>T (p.Ala226Ser)
c.493G>T (p.Ala165Ser)
c.526G>T (p.Ala176Ser)
c.*572G>T (n.*572G>T)
c.616G>T (p.Ala206Ser)
c.256-1382G>T (n.256-1382G>T)
c.343G>T (p.Ala115Ser)
n.724G>T
c.454G>T (p.Ala152Ser)
c.664G>T (p.Ala222Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896158C>ACA393175768MPIc.677C>A (p.Ala226Asp)
c.494C>A (p.Ala165Asp)
c.527C>A (p.Ala176Asp)
c.*573C>A (n.*573C>A)
c.617C>A (p.Ala206Asp)
c.256-1381C>A (n.256-1381C>A)
c.344C>A (p.Ala115Asp)
n.725C>A
c.455C>A (p.Ala152Asp)
c.665C>A (p.Ala222Asp)
dbSNP gnomAD v2 gnomAD v4
15g.74896158C=CA2187901708MPIc.677C= (p.Ala226=)
c.494C= (p.Ala165=)
c.527C= (p.Ala176=)
c.*573C= (n.*573C=)
c.617C= (p.Ala206=)
c.256-1381C= (n.256-1381C=)
c.344C= (p.Ala115=)
n.725C=
c.455C= (p.Ala152=)
c.665C= (p.Ala222=)
15g.74896158C>GCA393175769MPIc.677C>G (p.Ala226Gly)
c.494C>G (p.Ala165Gly)
c.527C>G (p.Ala176Gly)
c.*573C>G (n.*573C>G)
c.617C>G (p.Ala206Gly)
c.256-1381C>G (n.256-1381C>G)
c.344C>G (p.Ala115Gly)
n.725C>G
c.455C>G (p.Ala152Gly)
c.665C>G (p.Ala222Gly)
15g.74896158C>TCA234280MPIc.677C>T (p.Ala226Val)
c.494C>T (p.Ala165Val)
c.527C>T (p.Ala176Val)
c.*573C>T (n.*573C>T)
c.617C>T (p.Ala206Val)
c.256-1381C>T (n.256-1381C>T)
c.344C>T (p.Ala115Val)
n.725C>T
c.455C>T (p.Ala152Val)
c.665C>T (p.Ala222Val)
ClinVar dbSNP
15g.74896159C>ACA221947MPIc.678C>A (p.Ala226=)
c.495C>A (p.Ala165=)
c.528C>A (p.Ala176=)
c.*574C>A (n.*574C>A)
c.618C>A (p.Ala206=)
c.256-1380C>A (n.256-1380C>A)
c.345C>A (p.Ala115=)
n.726C>A
c.456C>A (p.Ala152=)
c.666C>A (p.Ala222=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.74896159C=CA2187901716MPIc.678C= (p.Ala226=)
c.495C= (p.Ala165=)
c.528C= (p.Ala176=)
c.*574C= (n.*574C=)
c.618C= (p.Ala206=)
c.256-1380C= (n.256-1380C=)
c.345C= (p.Ala115=)
n.726C=
c.456C= (p.Ala152=)
c.666C= (p.Ala222=)
15g.74896159C>GCA491491359MPIc.678C>G (p.Ala226=)
c.495C>G (p.Ala165=)
c.528C>G (p.Ala176=)
c.*574C>G (n.*574C>G)
c.618C>G (p.Ala206=)
c.256-1380C>G (n.256-1380C>G)
c.345C>G (p.Ala115=)
n.726C>G
c.456C>G (p.Ala152=)
c.666C>G (p.Ala222=)
15g.74896159C>TCA7662520MPIc.678C>T (p.Ala226=)
c.495C>T (p.Ala165=)
c.528C>T (p.Ala176=)
c.*574C>T (n.*574C>T)
c.618C>T (p.Ala206=)
c.256-1380C>T (n.256-1380C>T)
c.345C>T (p.Ala115=)
n.726C>T
c.456C>T (p.Ala152=)
c.666C>T (p.Ala222=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896160G>ACA7662521MPIc.679G>A (p.Gly227Arg)
c.496G>A (p.Gly166Arg)
c.529G>A (p.Gly177Arg)
c.*575G>A (n.*575G>A)
c.619G>A (p.Gly207Arg)
c.256-1379G>A (n.256-1379G>A)
c.346G>A (p.Gly116Arg)
n.727G>A
c.457G>A (p.Gly153Arg)
c.667G>A (p.Gly223Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.74896160G>CCA393175770MPIc.679G>C (p.Gly227Arg)
c.496G>C (p.Gly166Arg)
c.529G>C (p.Gly177Arg)
c.*575G>C (n.*575G>C)
c.619G>C (p.Gly207Arg)
c.256-1379G>C (n.256-1379G>C)
c.346G>C (p.Gly116Arg)
n.727G>C
c.457G>C (p.Gly153Arg)
c.667G>C (p.Gly223Arg)
15g.74896160G=CA2187901720MPIc.679G= (p.Gly227=)
c.496G= (p.Gly166=)
c.529G= (p.Gly177=)
c.*575G= (n.*575G=)
c.619G= (p.Gly207=)
c.256-1379G= (n.256-1379G=)
c.346G= (p.Gly116=)
n.727G=
c.457G= (p.Gly153=)
c.667G= (p.Gly223=)
15g.74896160G>TCA393175771MPIc.679G>T (p.Gly227Ter)
c.496G>T (p.Gly166Ter)
c.529G>T (p.Gly177Ter)
c.*575G>T (n.*575G>T)
c.619G>T (p.Gly207Ter)
c.256-1379G>T (n.256-1379G>T)
c.346G>T (p.Gly116Ter)
n.727G>T
c.457G>T (p.Gly153Ter)
c.667G>T (p.Gly223Ter)
ClinVar gnomAD v4
15g.74896161G>ACA393175772MPIc.680G>A (p.Gly227Glu)
c.497G>A (p.Gly166Glu)
c.530G>A (p.Gly177Glu)
c.*576G>A (n.*576G>A)
c.620G>A (p.Gly207Glu)
c.256-1378G>A (n.256-1378G>A)
c.347G>A (p.Gly116Glu)
n.728G>A
c.458G>A (p.Gly153Glu)
c.668G>A (p.Gly223Glu)
15g.74896161G>CCA393175773MPIc.680G>C (p.Gly227Ala)
c.497G>C (p.Gly166Ala)
c.530G>C (p.Gly177Ala)
c.*576G>C (n.*576G>C)
c.620G>C (p.Gly207Ala)
c.256-1378G>C (n.256-1378G>C)
c.347G>C (p.Gly116Ala)
n.728G>C
c.458G>C (p.Gly153Ala)
c.668G>C (p.Gly223Ala)
15g.74896161G>TCA393175774MPIc.680G>T (p.Gly227Val)
c.497G>T (p.Gly166Val)
c.530G>T (p.Gly177Val)
c.*576G>T (n.*576G>T)
c.620G>T (p.Gly207Val)
c.256-1378G>T (n.256-1378G>T)
c.347G>T (p.Gly116Val)
n.728G>T
c.458G>T (p.Gly153Val)
c.668G>T (p.Gly223Val)
gnomAD v4
15g.74896162A=CA2187901725MPIc.681A= (p.Gly227=)
c.498A= (p.Gly166=)
c.531A= (p.Gly177=)
c.*577A= (n.*577A=)
c.621A= (p.Gly207=)
c.256-1377A= (n.256-1377A=)
c.348A= (p.Gly116=)
n.729A=
c.459A= (p.Gly153=)
c.669A= (p.Gly223=)
15g.74896162A>CCA491491364MPIc.681A>C (p.Gly227=)
c.498A>C (p.Gly166=)
c.531A>C (p.Gly177=)
c.*577A>C (n.*577A>C)
c.621A>C (p.Gly207=)
c.256-1377A>C (n.256-1377A>C)
c.348A>C (p.Gly116=)
n.729A>C
c.459A>C (p.Gly153=)
c.669A>C (p.Gly223=)
gnomAD v4
15g.74896162A>GCA491491362MPIc.681A>G (p.Gly227=)
c.498A>G (p.Gly166=)
c.531A>G (p.Gly177=)
c.*577A>G (n.*577A>G)
c.621A>G (p.Gly207=)
c.256-1377A>G (n.256-1377A>G)
c.348A>G (p.Gly116=)
n.729A>G
c.459A>G (p.Gly153=)
c.669A>G (p.Gly223=)
ClinVar dbSNP gnomAD v4
15g.74896162A>TCA491491363MPIc.681A>T (p.Gly227=)
c.498A>T (p.Gly166=)
c.531A>T (p.Gly177=)
c.*577A>T (n.*577A>T)
c.621A>T (p.Gly207=)
c.256-1377A>T (n.256-1377A>T)
c.348A>T (p.Gly116=)
n.729A>T
c.459A>T (p.Gly153=)
c.669A>T (p.Gly223=)
15g.74896162_74896165delinsAAACCA2187901724MPIc.681_684delinsAAAC (p.Gly227=)
c.498_501delinsAAAC (p.Gly166=)
c.531_534delinsAAAC (p.Gly177=)
c.*577_*580delinsAAAC (n.*577_*580delinsAAAC)
c.621_624delinsAAAC (p.Gly207=)
c.256-1377_256-1374delinsAAAC (n.256-1377_256-1374delinsAAAC)
c.348_351delinsAAAC (p.Gly116=)
n.729_732delinsAAAC
c.459_462delinsAAAC (p.Gly153=)
c.669_672delinsAAAC (p.Gly223=)
15g.74896163A>CCA393175775MPIc.682A>C (p.Asn228His)
c.499A>C (p.Asn167His)
c.532A>C (p.Asn178His)
c.*578A>C (n.*578A>C)
c.622A>C (p.Asn208His)
c.256-1376A>C (n.256-1376A>C)
c.349A>C (p.Asn117His)
n.730A>C
c.460A>C (p.Asn154His)
c.670A>C (p.Asn224His)
15g.74896163A>GCA393175776MPIc.682A>G (p.Asn228Asp)
c.499A>G (p.Asn167Asp)
c.532A>G (p.Asn178Asp)
c.*578A>G (n.*578A>G)
c.622A>G (p.Asn208Asp)
c.256-1376A>G (n.256-1376A>G)
c.349A>G (p.Asn117Asp)
n.730A>G
c.460A>G (p.Asn154Asp)
c.670A>G (p.Asn224Asp)
15g.74896163A>TCA393175777MPIc.682A>T (p.Asn228Tyr)
c.499A>T (p.Asn167Tyr)
c.532A>T (p.Asn178Tyr)
c.*578A>T (n.*578A>T)
c.622A>T (p.Asn208Tyr)
c.256-1376A>T (n.256-1376A>T)
c.349A>T (p.Asn117Tyr)
n.730A>T
c.460A>T (p.Asn154Tyr)
c.670A>T (p.Asn224Tyr)
15g.74896167_74896169delCA7662522MPIc.686_688del (p.Asn229del)
c.503_505del (p.Asn168del)
c.536_538del (p.Asn179del)
c.*582_*584del (n.*582_*584del)
c.626_628del (p.Asn209del)
c.256-1372_256-1370del (n.256-1372_256-1370del)
c.353_355del (p.Asn118del)
n.734_736del
c.464_466del (p.Asn155del)
c.674_676del (p.Asn225del)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896164A>CCA393175778MPIc.683A>C (p.Asn228Thr)
c.500A>C (p.Asn167Thr)
c.533A>C (p.Asn178Thr)
c.*579A>C (n.*579A>C)
c.623A>C (p.Asn208Thr)
c.256-1375A>C (n.256-1375A>C)
c.350A>C (p.Asn117Thr)
n.731A>C
c.461A>C (p.Asn154Thr)
c.671A>C (p.Asn224Thr)
15g.74896164A>GCA393175779MPIc.683A>G (p.Asn228Ser)
c.500A>G (p.Asn167Ser)
c.533A>G (p.Asn178Ser)
c.*579A>G (n.*579A>G)
c.623A>G (p.Asn208Ser)
c.256-1375A>G (n.256-1375A>G)
c.350A>G (p.Asn117Ser)
n.731A>G
c.461A>G (p.Asn154Ser)
c.671A>G (p.Asn224Ser)
15g.74896164A>TCA393175780MPIc.683A>T (p.Asn228Ile)
c.500A>T (p.Asn167Ile)
c.533A>T (p.Asn178Ile)
c.*579A>T (n.*579A>T)
c.623A>T (p.Asn208Ile)
c.256-1375A>T (n.256-1375A>T)
c.350A>T (p.Asn117Ile)
n.731A>T
c.461A>T (p.Asn154Ile)
c.671A>T (p.Asn224Ile)
gnomAD v4
15g.74896165C>ACA393175782MPIc.684C>A (p.Asn228Lys)
c.501C>A (p.Asn167Lys)
c.534C>A (p.Asn178Lys)
c.*580C>A (n.*580C>A)
c.624C>A (p.Asn208Lys)
c.256-1374C>A (n.256-1374C>A)
c.351C>A (p.Asn117Lys)
n.732C>A
c.462C>A (p.Asn154Lys)
c.672C>A (p.Asn224Lys)
15g.74896165C=CA2187901736MPIc.684C= (p.Asn228=)
c.501C= (p.Asn167=)
c.534C= (p.Asn178=)
c.*580C= (n.*580C=)
c.624C= (p.Asn208=)
c.256-1374C= (n.256-1374C=)
c.351C= (p.Asn117=)
n.732C=
c.462C= (p.Asn154=)
c.672C= (p.Asn224=)
15g.74896165C>GCA393175781MPIc.684C>G (p.Asn228Lys)
c.501C>G (p.Asn167Lys)
c.534C>G (p.Asn178Lys)
c.*580C>G (n.*580C>G)
c.624C>G (p.Asn208Lys)
c.256-1374C>G (n.256-1374C>G)
c.351C>G (p.Asn117Lys)
n.732C>G
c.462C>G (p.Asn154Lys)
c.672C>G (p.Asn224Lys)
15g.74896165C>TCA180198MPIc.684C>T (p.Asn228=)
c.501C>T (p.Asn167=)
c.534C>T (p.Asn178=)
c.*580C>T (n.*580C>T)
c.624C>T (p.Asn208=)
c.256-1374C>T (n.256-1374C>T)
c.351C>T (p.Asn117=)
n.732C>T
c.462C>T (p.Asn154=)
c.672C>T (p.Asn224=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896166A>CCA393175784MPIc.685A>C (p.Asn229His)
c.502A>C (p.Asn168His)
c.535A>C (p.Asn179His)
c.*581A>C (n.*581A>C)
c.625A>C (p.Asn209His)
c.256-1373A>C (n.256-1373A>C)
c.352A>C (p.Asn118His)
n.733A>C
c.463A>C (p.Asn155His)
c.673A>C (p.Asn225His)
15g.74896166A>GCA393175783MPIc.685A>G (p.Asn229Asp)
c.502A>G (p.Asn168Asp)
c.535A>G (p.Asn179Asp)
c.*581A>G (n.*581A>G)
c.625A>G (p.Asn209Asp)
c.256-1373A>G (n.256-1373A>G)
c.352A>G (p.Asn118Asp)
n.733A>G
c.463A>G (p.Asn155Asp)
c.673A>G (p.Asn225Asp)
gnomAD v4
15g.74896166A>TCA393175785MPIc.685A>T (p.Asn229Tyr)
c.502A>T (p.Asn168Tyr)
c.535A>T (p.Asn179Tyr)
c.*581A>T (n.*581A>T)
c.625A>T (p.Asn209Tyr)
c.256-1373A>T (n.256-1373A>T)
c.352A>T (p.Asn118Tyr)
n.733A>T
c.463A>T (p.Asn155Tyr)
c.673A>T (p.Asn225Tyr)
15g.74896167A>CCA393175786MPIc.686A>C (p.Asn229Thr)
c.503A>C (p.Asn168Thr)
c.536A>C (p.Asn179Thr)
c.*582A>C (n.*582A>C)
c.626A>C (p.Asn209Thr)
c.256-1372A>C (n.256-1372A>C)
c.353A>C (p.Asn118Thr)
n.734A>C
c.464A>C (p.Asn155Thr)
c.674A>C (p.Asn225Thr)
15g.74896167A>GCA393175788MPIc.686A>G (p.Asn229Ser)
c.503A>G (p.Asn168Ser)
c.536A>G (p.Asn179Ser)
c.*582A>G (n.*582A>G)
c.626A>G (p.Asn209Ser)
c.256-1372A>G (n.256-1372A>G)
c.353A>G (p.Asn118Ser)
n.734A>G
c.464A>G (p.Asn155Ser)
c.674A>G (p.Asn225Ser)
15g.74896167A>TCA393175787MPIc.686A>T (p.Asn229Ile)
c.503A>T (p.Asn168Ile)
c.536A>T (p.Asn179Ile)
c.*582A>T (n.*582A>T)
c.626A>T (p.Asn209Ile)
c.256-1372A>T (n.256-1372A>T)
c.353A>T (p.Asn118Ile)
n.734A>T
c.464A>T (p.Asn155Ile)
c.674A>T (p.Asn225Ile)
15g.74896168C>ACA393175789MPIc.687C>A (p.Asn229Lys)
c.504C>A (p.Asn168Lys)
c.537C>A (p.Asn179Lys)
c.*583C>A (n.*583C>A)
c.627C>A (p.Asn209Lys)
c.256-1371C>A (n.256-1371C>A)
c.354C>A (p.Asn118Lys)
n.735C>A
c.465C>A (p.Asn155Lys)
c.675C>A (p.Asn225Lys)
15g.74896168C>GCA393175790MPIc.687C>G (p.Asn229Lys)
c.504C>G (p.Asn168Lys)
c.537C>G (p.Asn179Lys)
c.*583C>G (n.*583C>G)
c.627C>G (p.Asn209Lys)
c.256-1371C>G (n.256-1371C>G)
c.354C>G (p.Asn118Lys)
n.735C>G
c.465C>G (p.Asn155Lys)
c.675C>G (p.Asn225Lys)
15g.74896168C>TCA491491369MPIc.687C>T (p.Asn229=)
c.504C>T (p.Asn168=)
c.537C>T (p.Asn179=)
c.*583C>T (n.*583C>T)
c.627C>T (p.Asn209=)
c.256-1371C>T (n.256-1371C>T)
c.354C>T (p.Asn118=)
n.735C>T
c.465C>T (p.Asn155=)
c.675C>T (p.Asn225=)
15g.74896169A>CCA393175791MPIc.688A>C (p.Met230Leu)
c.505A>C (p.Met169Leu)
c.538A>C (p.Met180Leu)
c.*584A>C (n.*584A>C)
c.628A>C (p.Met210Leu)
c.256-1370A>C (n.256-1370A>C)
c.355A>C (p.Met119Leu)
n.736A>C
c.466A>C (p.Met156Leu)
c.676A>C (p.Met226Leu)
15g.74896169A>GCA393175793MPIc.688A>G (p.Met230Val)
c.505A>G (p.Met169Val)
c.538A>G (p.Met180Val)
c.*584A>G (n.*584A>G)
c.628A>G (p.Met210Val)
c.256-1370A>G (n.256-1370A>G)
c.355A>G (p.Met119Val)
n.736A>G
c.466A>G (p.Met156Val)
c.676A>G (p.Met226Val)
gnomAD v4
15g.74896169A>TCA393175792MPIc.688A>T (p.Met230Leu)
c.505A>T (p.Met169Leu)
c.538A>T (p.Met180Leu)
c.*584A>T (n.*584A>T)
c.628A>T (p.Met210Leu)
c.256-1370A>T (n.256-1370A>T)
c.355A>T (p.Met119Leu)
n.736A>T
c.466A>T (p.Met156Leu)
c.676A>T (p.Met226Leu)
15g.74896170T>ACA272825414MPIc.689T>A (p.Met230Lys)
c.506T>A (p.Met169Lys)
c.539T>A (p.Met180Lys)
c.*585T>A (n.*585T>A)
c.629T>A (p.Met210Lys)
c.256-1369T>A (n.256-1369T>A)
c.356T>A (p.Met119Lys)
n.737T>A
c.467T>A (p.Met156Lys)
c.677T>A (p.Met226Lys)
dbSNP
15g.74896170T>CCA7662523MPIc.689T>C (p.Met230Thr)
c.506T>C (p.Met169Thr)
c.539T>C (p.Met180Thr)
c.*585T>C (n.*585T>C)
c.629T>C (p.Met210Thr)
c.256-1369T>C (n.256-1369T>C)
c.356T>C (p.Met119Thr)
n.737T>C
c.467T>C (p.Met156Thr)
c.677T>C (p.Met226Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896170T>GCA393175794MPIc.689T>G (p.Met230Arg)
c.506T>G (p.Met169Arg)
c.539T>G (p.Met180Arg)
c.*585T>G (n.*585T>G)
c.629T>G (p.Met210Arg)
c.256-1369T>G (n.256-1369T>G)
c.356T>G (p.Met119Arg)
n.737T>G
c.467T>G (p.Met156Arg)
c.677T>G (p.Met226Arg)
15g.74896170T=CA2187901739MPIc.689T= (p.Met230=)
c.506T= (p.Met169=)
c.539T= (p.Met180=)
c.*585T= (n.*585T=)
c.629T= (p.Met210=)
c.256-1369T= (n.256-1369T=)
c.356T= (p.Met119=)
n.737T=
c.467T= (p.Met156=)
c.677T= (p.Met226=)
15g.74896171G>ACA393175795MPIc.690G>A (p.Met230Ile)
c.507G>A (p.Met169Ile)
c.540G>A (p.Met180Ile)
c.*586G>A (n.*586G>A)
c.630G>A (p.Met210Ile)
c.256-1368G>A (n.256-1368G>A)
c.357G>A (p.Met119Ile)
n.738G>A
c.468G>A (p.Met156Ile)
c.678G>A (p.Met226Ile)
gnomAD v4
15g.74896171G>CCA393175796MPIc.690G>C (p.Met230Ile)
c.507G>C (p.Met169Ile)
c.540G>C (p.Met180Ile)
c.*586G>C (n.*586G>C)
c.630G>C (p.Met210Ile)
c.256-1368G>C (n.256-1368G>C)
c.357G>C (p.Met119Ile)
n.738G>C
c.468G>C (p.Met156Ile)
c.678G>C (p.Met226Ile)
15g.74896171G>TCA393175797MPIc.690G>T (p.Met230Ile)
c.507G>T (p.Met169Ile)
c.540G>T (p.Met180Ile)
c.*586G>T (n.*586G>T)
c.630G>T (p.Met210Ile)
c.256-1368G>T (n.256-1368G>T)
c.357G>T (p.Met119Ile)
n.738G>T
c.468G>T (p.Met156Ile)
c.678G>T (p.Met226Ile)
gnomAD v4
15g.74896172G>ACA393175798MPIc.691G>A (p.Glu231Lys)
c.508G>A (p.Glu170Lys)
c.541G>A (p.Glu181Lys)
c.*587G>A (n.*587G>A)
c.631G>A (p.Glu211Lys)
c.256-1367G>A (n.256-1367G>A)
c.358G>A (p.Glu120Lys)
n.739G>A
c.469G>A (p.Glu157Lys)
c.679G>A (p.Glu227Lys)
15g.74896172G>CCA393175799MPIc.691G>C (p.Glu231Gln)
c.508G>C (p.Glu170Gln)
c.541G>C (p.Glu181Gln)
c.*587G>C (n.*587G>C)
c.631G>C (p.Glu211Gln)
c.256-1367G>C (n.256-1367G>C)
c.358G>C (p.Glu120Gln)
n.739G>C
c.469G>C (p.Glu157Gln)
c.679G>C (p.Glu227Gln)
15g.74896172G>TCA393175800MPIc.691G>T (p.Glu231Ter)
c.508G>T (p.Glu170Ter)
c.541G>T (p.Glu181Ter)
c.*587G>T (n.*587G>T)
c.631G>T (p.Glu211Ter)
c.256-1367G>T (n.256-1367G>T)
c.358G>T (p.Glu120Ter)
n.739G>T
c.469G>T (p.Glu157Ter)
c.679G>T (p.Glu227Ter)
15g.74896173A>CCA393175801MPIc.692A>C (p.Glu231Ala)
c.509A>C (p.Glu170Ala)
c.542A>C (p.Glu181Ala)
c.*588A>C (n.*588A>C)
c.632A>C (p.Glu211Ala)
c.256-1366A>C (n.256-1366A>C)
c.359A>C (p.Glu120Ala)
n.740A>C
c.470A>C (p.Glu157Ala)
c.680A>C (p.Glu227Ala)
15g.74896173A>GCA393175802MPIc.692A>G (p.Glu231Gly)
c.509A>G (p.Glu170Gly)
c.542A>G (p.Glu181Gly)
c.*588A>G (n.*588A>G)
c.632A>G (p.Glu211Gly)
c.256-1366A>G (n.256-1366A>G)
c.359A>G (p.Glu120Gly)
n.740A>G
c.470A>G (p.Glu157Gly)
c.680A>G (p.Glu227Gly)
gnomAD v4
15g.74896173A>TCA393175803MPIc.692A>T (p.Glu231Val)
c.509A>T (p.Glu170Val)
c.542A>T (p.Glu181Val)
c.*588A>T (n.*588A>T)
c.632A>T (p.Glu211Val)
c.256-1366A>T (n.256-1366A>T)
c.359A>T (p.Glu120Val)
n.740A>T
c.470A>T (p.Glu157Val)
c.680A>T (p.Glu227Val)
gnomAD v4
15g.74896174G>ACA491491371MPIc.693G>A (p.Glu231=)
c.510G>A (p.Glu170=)
c.543G>A (p.Glu181=)
c.*589G>A (n.*589G>A)
c.633G>A (p.Glu211=)
c.256-1365G>A (n.256-1365G>A)
c.360G>A (p.Glu120=)
n.741G>A
c.471G>A (p.Glu157=)
c.681G>A (p.Glu227=)
ClinVar dbSNP gnomAD v4
15g.74896174G>CCA393175805MPIc.693G>C (p.Glu231Asp)
c.510G>C (p.Glu170Asp)
c.543G>C (p.Glu181Asp)
c.*589G>C (n.*589G>C)
c.633G>C (p.Glu211Asp)
c.256-1365G>C (n.256-1365G>C)
c.360G>C (p.Glu120Asp)
n.741G>C
c.471G>C (p.Glu157Asp)
c.681G>C (p.Glu227Asp)
15g.74896174G>TCA393175804MPIc.693G>T (p.Glu231Asp)
c.510G>T (p.Glu170Asp)
c.543G>T (p.Glu181Asp)
c.*589G>T (n.*589G>T)
c.633G>T (p.Glu211Asp)
c.256-1365G>T (n.256-1365G>T)
c.360G>T (p.Glu120Asp)
n.741G>T
c.471G>T (p.Glu157Asp)
c.681G>T (p.Glu227Asp)
15g.74896175G>ACA7662524MPIc.694G>A (p.Asp232Asn)
c.511G>A (p.Asp171Asn)
c.544G>A (p.Asp182Asn)
c.*590G>A (n.*590G>A)
c.634G>A (p.Asp212Asn)
c.256-1364G>A (n.256-1364G>A)
c.361G>A (p.Asp121Asn)
n.742G>A
c.472G>A (p.Asp158Asn)
c.682G>A (p.Asp228Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896175G>CCA393175806MPIc.694G>C (p.Asp232His)
c.511G>C (p.Asp171His)
c.544G>C (p.Asp182His)
c.*590G>C (n.*590G>C)
c.634G>C (p.Asp212His)
c.256-1364G>C (n.256-1364G>C)
c.361G>C (p.Asp121His)
n.742G>C
c.472G>C (p.Asp158His)
c.682G>C (p.Asp228His)
15g.74896175G=CA2187901744MPIc.694G= (p.Asp232=)
c.511G= (p.Asp171=)
c.544G= (p.Asp182=)
c.*590G= (n.*590G=)
c.634G= (p.Asp212=)
c.256-1364G= (n.256-1364G=)
c.361G= (p.Asp121=)
n.742G=
c.472G= (p.Asp158=)
c.682G= (p.Asp228=)
15g.74896175G>TCA393175807MPIc.694G>T (p.Asp232Tyr)
c.511G>T (p.Asp171Tyr)
c.544G>T (p.Asp182Tyr)
c.*590G>T (n.*590G>T)
c.634G>T (p.Asp212Tyr)
c.256-1364G>T (n.256-1364G>T)
c.361G>T (p.Asp121Tyr)
n.742G>T
c.472G>T (p.Asp158Tyr)
c.682G>T (p.Asp228Tyr)
15g.74896176A=CA2187901747MPIc.695A= (p.Asp232=)
c.512A= (p.Asp171=)
c.545A= (p.Asp182=)
c.*591A= (n.*591A=)
c.635A= (p.Asp212=)
c.256-1363A= (n.256-1363A=)
c.362A= (p.Asp121=)
n.743A=
c.473A= (p.Asp158=)
c.683A= (p.Asp228=)
15g.74896176A>CCA393175808MPIc.695A>C (p.Asp232Ala)
c.512A>C (p.Asp171Ala)
c.545A>C (p.Asp182Ala)
c.*591A>C (n.*591A>C)
c.635A>C (p.Asp212Ala)
c.256-1363A>C (n.256-1363A>C)
c.362A>C (p.Asp121Ala)
n.743A>C
c.473A>C (p.Asp158Ala)
c.683A>C (p.Asp228Ala)
dbSNP gnomAD v2
15g.74896176A>GCA10647407MPIc.695A>G (p.Asp232Gly)
c.512A>G (p.Asp171Gly)
c.545A>G (p.Asp182Gly)
c.*591A>G (n.*591A>G)
c.635A>G (p.Asp212Gly)
c.256-1363A>G (n.256-1363A>G)
c.362A>G (p.Asp121Gly)
n.743A>G
c.473A>G (p.Asp158Gly)
c.683A>G (p.Asp228Gly)
ClinVar dbSNP gnomAD v4
15g.74896176A>TCA7662525MPIc.695A>T (p.Asp232Val)
c.512A>T (p.Asp171Val)
c.545A>T (p.Asp182Val)
c.*591A>T (n.*591A>T)
c.635A>T (p.Asp212Val)
c.256-1363A>T (n.256-1363A>T)
c.362A>T (p.Asp121Val)
n.743A>T
c.473A>T (p.Asp158Val)
c.683A>T (p.Asp228Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896177C>ACA393175809MPIc.696C>A (p.Asp232Glu)
c.513C>A (p.Asp171Glu)
c.546C>A (p.Asp182Glu)
c.*592C>A (n.*592C>A)
c.636C>A (p.Asp212Glu)
c.256-1362C>A (n.256-1362C>A)
c.363C>A (p.Asp121Glu)
n.744C>A
c.474C>A (p.Asp158Glu)
c.684C>A (p.Asp228Glu)
15g.74896177C=CA2187901751MPIc.696C= (p.Asp232=)
c.513C= (p.Asp171=)
c.546C= (p.Asp182=)
c.*592C= (n.*592C=)
c.636C= (p.Asp212=)
c.256-1362C= (n.256-1362C=)
c.363C= (p.Asp121=)
n.744C=
c.474C= (p.Asp158=)
c.684C= (p.Asp228=)
15g.74896177C>GCA393175810MPIc.696C>G (p.Asp232Glu)
c.513C>G (p.Asp171Glu)
c.546C>G (p.Asp182Glu)
c.*592C>G (n.*592C>G)
c.636C>G (p.Asp212Glu)
c.256-1362C>G (n.256-1362C>G)
c.363C>G (p.Asp121Glu)
n.744C>G
c.474C>G (p.Asp158Glu)
c.684C>G (p.Asp228Glu)
15g.74896177C>TCA491491372MPIc.696C>T (p.Asp232=)
c.513C>T (p.Asp171=)
c.546C>T (p.Asp182=)
c.*592C>T (n.*592C>T)
c.636C>T (p.Asp212=)
c.256-1362C>T (n.256-1362C>T)
c.363C>T (p.Asp121=)
n.744C>T
c.474C>T (p.Asp158=)
c.684C>T (p.Asp228=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896178A=CA2187901756MPIc.697A= (p.Ile233=)
c.514A= (p.Ile172=)
c.547A= (p.Ile183=)
c.*593A= (n.*593A=)
c.637A= (p.Ile213=)
c.256-1361A= (n.256-1361A=)
c.364A= (p.Ile122=)
n.745A=
c.475A= (p.Ile159=)
c.685A= (p.Ile229=)
15g.74896178A>CCA7662526MPIc.697A>C (p.Ile233Leu)
c.514A>C (p.Ile172Leu)
c.547A>C (p.Ile183Leu)
c.*593A>C (n.*593A>C)
c.637A>C (p.Ile213Leu)
c.256-1361A>C (n.256-1361A>C)
c.364A>C (p.Ile122Leu)
n.745A>C
c.475A>C (p.Ile159Leu)
c.685A>C (p.Ile229Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896178A>GCA393175811MPIc.697A>G (p.Ile233Val)
c.514A>G (p.Ile172Val)
c.547A>G (p.Ile183Val)
c.*593A>G (n.*593A>G)
c.637A>G (p.Ile213Val)
c.256-1361A>G (n.256-1361A>G)
c.364A>G (p.Ile122Val)
n.745A>G
c.475A>G (p.Ile159Val)
c.685A>G (p.Ile229Val)
dbSNP gnomAD v2 gnomAD v4
15g.74896178A>TCA393175812MPIc.697A>T (p.Ile233Phe)
c.514A>T (p.Ile172Phe)
c.547A>T (p.Ile183Phe)
c.*593A>T (n.*593A>T)
c.637A>T (p.Ile213Phe)
c.256-1361A>T (n.256-1361A>T)
c.364A>T (p.Ile122Phe)
n.745A>T
c.475A>T (p.Ile159Phe)
c.685A>T (p.Ile229Phe)
15g.74896179T>ACA393175815MPIc.698T>A (p.Ile233Asn)
c.515T>A (p.Ile172Asn)
c.548T>A (p.Ile183Asn)
c.*594T>A (n.*594T>A)
c.638T>A (p.Ile213Asn)
c.256-1360T>A (n.256-1360T>A)
c.365T>A (p.Ile122Asn)
n.746T>A
c.476T>A (p.Ile159Asn)
c.686T>A (p.Ile229Asn)
15g.74896179T>CCA393175814MPIc.698T>C (p.Ile233Thr)
c.515T>C (p.Ile172Thr)
c.548T>C (p.Ile183Thr)
c.*594T>C (n.*594T>C)
c.638T>C (p.Ile213Thr)
c.256-1360T>C (n.256-1360T>C)
c.365T>C (p.Ile122Thr)
n.746T>C
c.476T>C (p.Ile159Thr)
c.686T>C (p.Ile229Thr)
15g.74896179T>GCA393175813MPIc.698T>G (p.Ile233Ser)
c.515T>G (p.Ile172Ser)
c.548T>G (p.Ile183Ser)
c.*594T>G (n.*594T>G)
c.638T>G (p.Ile213Ser)
c.256-1360T>G (n.256-1360T>G)
c.365T>G (p.Ile122Ser)
n.746T>G
c.476T>G (p.Ile159Ser)
c.686T>G (p.Ile229Ser)
15g.74896180C>ACA491491373MPIc.699C>A (p.Ile233=)
c.516C>A (p.Ile172=)
c.549C>A (p.Ile183=)
c.*595C>A (n.*595C>A)
c.639C>A (p.Ile213=)
c.256-1359C>A (n.256-1359C>A)
c.366C>A (p.Ile122=)
n.747C>A
c.477C>A (p.Ile159=)
c.687C>A (p.Ile229=)
gnomAD v4 COSMIC
15g.74896180C>GCA393175816MPIc.699C>G (p.Ile233Met)
c.516C>G (p.Ile172Met)
c.549C>G (p.Ile183Met)
c.*595C>G (n.*595C>G)
c.639C>G (p.Ile213Met)
c.256-1359C>G (n.256-1359C>G)
c.366C>G (p.Ile122Met)
n.747C>G
c.477C>G (p.Ile159Met)
c.687C>G (p.Ile229Met)
15g.74896180C>TCA491491374MPIc.699C>T (p.Ile233=)
c.516C>T (p.Ile172=)
c.549C>T (p.Ile183=)
c.*595C>T (n.*595C>T)
c.639C>T (p.Ile213=)
c.256-1359C>T (n.256-1359C>T)
c.366C>T (p.Ile122=)
n.747C>T
c.477C>T (p.Ile159=)
c.687C>T (p.Ile229=)
ClinVar COSMIC
15g.74896181T>ACA393175817MPIc.700T>A (p.Phe234Ile)
c.517T>A (p.Phe173Ile)
c.550T>A (p.Phe184Ile)
c.*596T>A (n.*596T>A)
c.640T>A (p.Phe214Ile)
c.256-1358T>A (n.256-1358T>A)
c.367T>A (p.Phe123Ile)
n.748T>A
c.478T>A (p.Phe160Ile)
c.688T>A (p.Phe230Ile)
15g.74896181T>CCA393175818MPIc.700T>C (p.Phe234Leu)
c.517T>C (p.Phe173Leu)
c.550T>C (p.Phe184Leu)
c.*596T>C (n.*596T>C)
c.640T>C (p.Phe214Leu)
c.256-1358T>C (n.256-1358T>C)
c.367T>C (p.Phe123Leu)
n.748T>C
c.478T>C (p.Phe160Leu)
c.688T>C (p.Phe230Leu)
gnomAD v4
15g.74896181T>GCA393175819MPIc.700T>G (p.Phe234Val)
c.517T>G (p.Phe173Val)
c.550T>G (p.Phe184Val)
c.*596T>G (n.*596T>G)
c.640T>G (p.Phe214Val)
c.256-1358T>G (n.256-1358T>G)
c.367T>G (p.Phe123Val)
n.748T>G
c.478T>G (p.Phe160Val)
c.688T>G (p.Phe230Val)
15g.74896182T>ACA393175820MPIc.701T>A (p.Phe234Tyr)
c.518T>A (p.Phe173Tyr)
c.551T>A (p.Phe184Tyr)
c.*597T>A (n.*597T>A)
c.641T>A (p.Phe214Tyr)
c.256-1357T>A (n.256-1357T>A)
c.368T>A (p.Phe123Tyr)
n.749T>A
c.479T>A (p.Phe160Tyr)
c.689T>A (p.Phe230Tyr)
15g.74896182T>CCA393175821MPIc.701T>C (p.Phe234Ser)
c.518T>C (p.Phe173Ser)
c.551T>C (p.Phe184Ser)
c.*597T>C (n.*597T>C)
c.641T>C (p.Phe214Ser)
c.256-1357T>C (n.256-1357T>C)
c.368T>C (p.Phe123Ser)
n.749T>C
c.479T>C (p.Phe160Ser)
c.689T>C (p.Phe230Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896182T>GCA393175822MPIc.701T>G (p.Phe234Cys)
c.518T>G (p.Phe173Cys)
c.551T>G (p.Phe184Cys)
c.*597T>G (n.*597T>G)
c.641T>G (p.Phe214Cys)
c.256-1357T>G (n.256-1357T>G)
c.368T>G (p.Phe123Cys)
n.749T>G
c.479T>G (p.Phe160Cys)
c.689T>G (p.Phe230Cys)
gnomAD v4
15g.74896182T=CA2187901762MPIc.701T= (p.Phe234=)
c.518T= (p.Phe173=)
c.551T= (p.Phe184=)
c.*597T= (n.*597T=)
c.641T= (p.Phe214=)
c.256-1357T= (n.256-1357T=)
c.368T= (p.Phe123=)
n.749T=
c.479T= (p.Phe160=)
c.689T= (p.Phe230=)
15g.74896183T>ACA393175823MPIc.702T>A (p.Phe234Leu)
c.519T>A (p.Phe173Leu)
c.552T>A (p.Phe184Leu)
c.*598T>A (n.*598T>A)
c.642T>A (p.Phe214Leu)
c.256-1356T>A (n.256-1356T>A)
c.369T>A (p.Phe123Leu)
n.750T>A
c.480T>A (p.Phe160Leu)
c.690T>A (p.Phe230Leu)
15g.74896183T>CCA491491375MPIc.702T>C (p.Phe234=)
c.519T>C (p.Phe173=)
c.552T>C (p.Phe184=)
c.*598T>C (n.*598T>C)
c.642T>C (p.Phe214=)
c.256-1356T>C (n.256-1356T>C)
c.369T>C (p.Phe123=)
n.750T>C
c.480T>C (p.Phe160=)
c.690T>C (p.Phe230=)
15g.74896183T>GCA393175824MPIc.702T>G (p.Phe234Leu)
c.519T>G (p.Phe173Leu)
c.552T>G (p.Phe184Leu)
c.*598T>G (n.*598T>G)
c.642T>G (p.Phe214Leu)
c.256-1356T>G (n.256-1356T>G)
c.369T>G (p.Phe123Leu)
n.750T>G
c.480T>G (p.Phe160Leu)
c.690T>G (p.Phe230Leu)
15g.74896184G>ACA393175825MPIc.703G>A (p.Gly235Arg)
c.520G>A (p.Gly174Arg)
c.553G>A (p.Gly185Arg)
c.*599G>A (n.*599G>A)
c.643G>A (p.Gly215Arg)
c.256-1355G>A (n.256-1355G>A)
c.370G>A (p.Gly124Arg)
n.751G>A
c.481G>A (p.Gly161Arg)
c.691G>A (p.Gly231Arg)
15g.74896184G>CCA393175826MPIc.703G>C (p.Gly235Arg)
c.520G>C (p.Gly174Arg)
c.553G>C (p.Gly185Arg)
c.*599G>C (n.*599G>C)
c.643G>C (p.Gly215Arg)
c.256-1355G>C (n.256-1355G>C)
c.370G>C (p.Gly124Arg)
n.751G>C
c.481G>C (p.Gly161Arg)
c.691G>C (p.Gly231Arg)
15g.74896184G>TCA393175827MPIc.703G>T (p.Gly235Trp)
c.520G>T (p.Gly174Trp)
c.553G>T (p.Gly185Trp)
c.*599G>T (n.*599G>T)
c.643G>T (p.Gly215Trp)
c.256-1355G>T (n.256-1355G>T)
c.370G>T (p.Gly124Trp)
n.751G>T
c.481G>T (p.Gly161Trp)
c.691G>T (p.Gly231Trp)
15g.74896187dupCA2580089994MPIc.706dup (p.Glu236GlyfsTer13)
c.523dup (p.Glu175GlyfsTer13)
c.556dup (p.Glu186GlyfsTer13)
c.*602dup (n.*602dup)
c.646dup (p.Glu216GlyfsTer13)
c.256-1352dup (n.256-1352dup)
c.373dup (p.Glu125GlyfsTer13)
n.754dup
c.484dup (p.Glu162GlyfsTer13)
c.694dup (p.Glu232GlyfsTer13)
ClinVar
15g.74896185G>ACA393175830MPIc.704G>A (p.Gly235Glu)
c.521G>A (p.Gly174Glu)
c.554G>A (p.Gly185Glu)
c.*600G>A (n.*600G>A)
c.644G>A (p.Gly215Glu)
c.256-1354G>A (n.256-1354G>A)
c.371G>A (p.Gly124Glu)
n.752G>A
c.482G>A (p.Gly161Glu)
c.692G>A (p.Gly231Glu)
15g.74896185G>CCA393175829MPIc.704G>C (p.Gly235Ala)
c.521G>C (p.Gly174Ala)
c.554G>C (p.Gly185Ala)
c.*600G>C (n.*600G>C)
c.644G>C (p.Gly215Ala)
c.256-1354G>C (n.256-1354G>C)
c.371G>C (p.Gly124Ala)
n.752G>C
c.482G>C (p.Gly161Ala)
c.692G>C (p.Gly231Ala)
15g.74896185G>TCA393175828MPIc.704G>T (p.Gly235Val)
c.521G>T (p.Gly174Val)
c.554G>T (p.Gly185Val)
c.*600G>T (n.*600G>T)
c.644G>T (p.Gly215Val)
c.256-1354G>T (n.256-1354G>T)
c.371G>T (p.Gly124Val)
n.752G>T
c.482G>T (p.Gly161Val)
c.692G>T (p.Gly231Val)
15g.74896186G>ACA491491376MPIc.705G>A (p.Gly235=)
c.522G>A (p.Gly174=)
c.555G>A (p.Gly185=)
c.*601G>A (n.*601G>A)
c.645G>A (p.Gly215=)
c.256-1353G>A (n.256-1353G>A)
c.372G>A (p.Gly124=)
n.753G>A
c.483G>A (p.Gly161=)
c.693G>A (p.Gly231=)
15g.74896186G>CCA491491377MPIc.705G>C (p.Gly235=)
c.522G>C (p.Gly174=)
c.555G>C (p.Gly185=)
c.*601G>C (n.*601G>C)
c.645G>C (p.Gly215=)
c.256-1353G>C (n.256-1353G>C)
c.372G>C (p.Gly124=)
n.753G>C
c.483G>C (p.Gly161=)
c.693G>C (p.Gly231=)
15g.74896186G>TCA491491378MPIc.705G>T (p.Gly235=)
c.522G>T (p.Gly174=)
c.555G>T (p.Gly185=)
c.*601G>T (n.*601G>T)
c.645G>T (p.Gly215=)
c.256-1353G>T (n.256-1353G>T)
c.372G>T (p.Gly124=)
n.753G>T
c.483G>T (p.Gly161=)
c.693G>T (p.Gly231=)
15g.74896187G>ACA393175831MPIc.706G>A (p.Glu236Lys)
c.523G>A (p.Glu175Lys)
c.556G>A (p.Glu186Lys)
c.*602G>A (n.*602G>A)
c.646G>A (p.Glu216Lys)
c.256-1352G>A (n.256-1352G>A)
c.373G>A (p.Glu125Lys)
n.754G>A
c.484G>A (p.Glu162Lys)
c.694G>A (p.Glu232Lys)
COSMIC
15g.74896187G>CCA393175832MPIc.706G>C (p.Glu236Gln)
c.523G>C (p.Glu175Gln)
c.556G>C (p.Glu186Gln)
c.*602G>C (n.*602G>C)
c.646G>C (p.Glu216Gln)
c.256-1352G>C (n.256-1352G>C)
c.373G>C (p.Glu125Gln)
n.754G>C
c.484G>C (p.Glu162Gln)
c.694G>C (p.Glu232Gln)
15g.74896187G>TCA393175833MPIc.706G>T (p.Glu236Ter)
c.523G>T (p.Glu175Ter)
c.556G>T (p.Glu186Ter)
c.*602G>T (n.*602G>T)
c.646G>T (p.Glu216Ter)
c.256-1352G>T (n.256-1352G>T)
c.373G>T (p.Glu125Ter)
n.754G>T
c.484G>T (p.Glu162Ter)
c.694G>T (p.Glu232Ter)
15g.74896188_74896189delCA2629530479MPIc.707_708del (p.Glu236AlafsTer12)
c.524_525del (p.Glu175AlafsTer12)
c.557_558del (p.Glu186AlafsTer12)
c.647_648del (p.Glu216AlafsTer12)
c.256-1351_256-1350del (n.256-1351_256-1350del)
c.374_375del (p.Glu125AlafsTer12)
n.755_756del
c.485_486del (p.Glu162AlafsTer12)
c.695_696del (p.Glu232AlafsTer12)
gnomAD v4
15g.74896188A>CCA393175834MPIc.707A>C (p.Glu236Ala)
c.524A>C (p.Glu175Ala)
c.557A>C (p.Glu186Ala)
c.*603A>C (n.*603A>C)
c.647A>C (p.Glu216Ala)
c.256-1351A>C (n.256-1351A>C)
c.374A>C (p.Glu125Ala)
n.755A>C
c.485A>C (p.Glu162Ala)
c.695A>C (p.Glu232Ala)
gnomAD v4
15g.74896188A>GCA393175835MPIc.707A>G (p.Glu236Gly)
c.524A>G (p.Glu175Gly)
c.557A>G (p.Glu186Gly)
c.*603A>G (n.*603A>G)
c.647A>G (p.Glu216Gly)
c.256-1351A>G (n.256-1351A>G)
c.374A>G (p.Glu125Gly)
n.755A>G
c.485A>G (p.Glu162Gly)
c.695A>G (p.Glu232Gly)
15g.74896188A>TCA393175836MPIc.707A>T (p.Glu236Val)
c.524A>T (p.Glu175Val)
c.557A>T (p.Glu186Val)
c.*603A>T (n.*603A>T)
c.647A>T (p.Glu216Val)
c.256-1351A>T (n.256-1351A>T)
c.374A>T (p.Glu125Val)
n.755A>T
c.485A>T (p.Glu162Val)
c.695A>T (p.Glu232Val)
15g.74896189G>ACA7662527MPIc.708G>A (p.Glu236=)
c.525G>A (p.Glu175=)
c.558G>A (p.Glu186=)
c.648G>A (p.Glu216=)
c.256-1350G>A (n.256-1350G>A)
c.375G>A (p.Glu125=)
n.756G>A
c.486G>A (p.Glu162=)
c.696G>A (p.Glu232=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896189G>CCA393175837MPIc.708G>C (p.Glu236Asp)
c.525G>C (p.Glu175Asp)
c.558G>C (p.Glu186Asp)
c.648G>C (p.Glu216Asp)
c.256-1350G>C (n.256-1350G>C)
c.375G>C (p.Glu125Asp)
n.756G>C
c.486G>C (p.Glu162Asp)
c.696G>C (p.Glu232Asp)
15g.74896189G=CA2187901764MPIc.708G= (p.Glu236=)
c.525G= (p.Glu175=)
c.558G= (p.Glu186=)
c.648G= (p.Glu216=)
c.256-1350G= (n.256-1350G=)
c.375G= (p.Glu125=)
n.756G=
c.486G= (p.Glu162=)
c.696G= (p.Glu232=)
15g.74896189G>TCA393175838MPIc.708G>T (p.Glu236Asp)
c.525G>T (p.Glu175Asp)
c.558G>T (p.Glu186Asp)
c.648G>T (p.Glu216Asp)
c.256-1350G>T (n.256-1350G>T)
c.375G>T (p.Glu125Asp)
n.756G>T
c.486G>T (p.Glu162Asp)
c.696G>T (p.Glu232Asp)
15g.74896190C>ACA7662529MPIc.709C>A (p.Leu237Ile)
c.526C>A (p.Leu176Ile)
c.559C>A (p.Leu187Ile)
c.649C>A (p.Leu217Ile)
c.256-1349C>A (n.256-1349C>A)
c.376C>A (p.Leu126Ile)
n.757C>A
c.487C>A (p.Leu163Ile)
c.697C>A (p.Leu233Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896190C=CA2187901768MPIc.709C= (p.Leu237=)
c.526C= (p.Leu176=)
c.559C= (p.Leu187=)
c.649C= (p.Leu217=)
c.256-1349C= (n.256-1349C=)
c.376C= (p.Leu126=)
n.757C=
c.487C= (p.Leu163=)
c.697C= (p.Leu233=)
15g.74896190C>GCA393175839MPIc.709C>G (p.Leu237Val)
c.526C>G (p.Leu176Val)
c.559C>G (p.Leu187Val)
c.649C>G (p.Leu217Val)
c.256-1349C>G (n.256-1349C>G)
c.376C>G (p.Leu126Val)
n.757C>G
c.487C>G (p.Leu163Val)
c.697C>G (p.Leu233Val)
dbSNP gnomAD v2 gnomAD v4
15g.74896190C>TCA393175840MPIc.709C>T (p.Leu237Phe)
c.526C>T (p.Leu176Phe)
c.559C>T (p.Leu187Phe)
c.649C>T (p.Leu217Phe)
c.256-1349C>T (n.256-1349C>T)
c.376C>T (p.Leu126Phe)
n.757C>T
c.487C>T (p.Leu163Phe)
c.697C>T (p.Leu233Phe)
15g.74896190_74896191delinsCTCA2187901767MPIc.709_710delinsCT (p.Leu237=)
c.526_527delinsCT (p.Leu176=)
c.559_560delinsCT (p.Leu187=)
c.649_650delinsCT (p.Leu217=)
c.256-1349_256-1348delinsCT (n.256-1349_256-1348delinsCT)
c.376_377delinsCT (p.Leu126=)
n.757_758delinsCT
c.487_488delinsCT (p.Leu163=)
c.697_698delinsCT (p.Leu233=)
15g.74896191T>ACA393175842MPIc.710T>A (p.Leu237His)
c.527T>A (p.Leu176His)
c.560T>A (p.Leu187His)
c.650T>A (p.Leu217His)
c.256-1348T>A (n.256-1348T>A)
c.377T>A (p.Leu126His)
n.758T>A
c.488T>A (p.Leu163His)
c.698T>A (p.Leu233His)
15g.74896191T>CCA393175841MPIc.710T>C (p.Leu237Pro)
c.527T>C (p.Leu176Pro)
c.560T>C (p.Leu187Pro)
c.650T>C (p.Leu217Pro)
c.256-1348T>C (n.256-1348T>C)
c.377T>C (p.Leu126Pro)
n.758T>C
c.488T>C (p.Leu163Pro)
c.698T>C (p.Leu233Pro)
gnomAD v4
15g.74896191T>GCA393175843MPIc.710T>G (p.Leu237Arg)
c.527T>G (p.Leu176Arg)
c.560T>G (p.Leu187Arg)
c.650T>G (p.Leu217Arg)
c.256-1348T>G (n.256-1348T>G)
c.377T>G (p.Leu126Arg)
n.758T>G
c.488T>G (p.Leu163Arg)
c.698T>G (p.Leu233Arg)
15g.74896194delCA7662528MPIc.713del (p.Leu238CysfsTer20)
c.530del (p.Leu177CysfsTer20)
c.563del (p.Leu188CysfsTer20)
c.653del (p.Leu218CysfsTer20)
c.256-1345del (n.256-1345del)
c.380del (p.Leu127CysfsTer20)
n.761del
c.491del (p.Leu164CysfsTer20)
c.701del (p.Leu234CysfsTer20)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896192T>ACA491491380MPIc.711T>A (p.Leu237=)
c.528T>A (p.Leu176=)
c.561T>A (p.Leu187=)
c.651T>A (p.Leu217=)
c.256-1347T>A (n.256-1347T>A)
c.378T>A (p.Leu126=)
n.759T>A
c.489T>A (p.Leu163=)
c.699T>A (p.Leu233=)
15g.74896192T>CCA491491381MPIc.711T>C (p.Leu237=)
c.528T>C (p.Leu176=)
c.561T>C (p.Leu187=)
c.651T>C (p.Leu217=)
c.256-1347T>C (n.256-1347T>C)
c.378T>C (p.Leu126=)
n.759T>C
c.489T>C (p.Leu163=)
c.699T>C (p.Leu233=)
15g.74896192T>GCA491491379MPIc.711T>G (p.Leu237=)
c.528T>G (p.Leu176=)
c.561T>G (p.Leu187=)
c.651T>G (p.Leu217=)
c.256-1347T>G (n.256-1347T>G)
c.378T>G (p.Leu126=)
n.759T>G
c.489T>G (p.Leu163=)
c.699T>G (p.Leu233=)
15g.74896193T>ACA393175845MPIc.712T>A (p.Leu238Met)
c.529T>A (p.Leu177Met)
c.562T>A (p.Leu188Met)
c.652T>A (p.Leu218Met)
c.256-1346T>A (n.256-1346T>A)
c.379T>A (p.Leu127Met)
n.760T>A
c.490T>A (p.Leu164Met)
c.700T>A (p.Leu234Met)
15g.74896193T>CCA491491382MPIc.712T>C (p.Leu238=)
c.529T>C (p.Leu177=)
c.562T>C (p.Leu188=)
c.652T>C (p.Leu218=)
c.256-1346T>C (n.256-1346T>C)
c.379T>C (p.Leu127=)
n.760T>C
c.490T>C (p.Leu164=)
c.700T>C (p.Leu234=)
gnomAD v3 gnomAD v4
15g.74896193T>GCA393175844MPIc.712T>G (p.Leu238Val)
c.529T>G (p.Leu177Val)
c.562T>G (p.Leu188Val)
c.652T>G (p.Leu218Val)
c.256-1346T>G (n.256-1346T>G)
c.379T>G (p.Leu127Val)
n.760T>G
c.490T>G (p.Leu164Val)
c.700T>G (p.Leu234Val)
15g.74896194T>ACA393175846MPIc.713T>A (p.Leu238Ter)
c.530T>A (p.Leu177Ter)
c.563T>A (p.Leu188Ter)
c.653T>A (p.Leu218Ter)
c.256-1345T>A (n.256-1345T>A)
c.380T>A (p.Leu127Ter)
n.761T>A
c.491T>A (p.Leu164Ter)
c.701T>A (p.Leu234Ter)
15g.74896194T>CCA393175847MPIc.713T>C (p.Leu238Ser)
c.530T>C (p.Leu177Ser)
c.563T>C (p.Leu188Ser)
c.653T>C (p.Leu218Ser)
c.256-1345T>C (n.256-1345T>C)
c.380T>C (p.Leu127Ser)
n.761T>C
c.491T>C (p.Leu164Ser)
c.701T>C (p.Leu234Ser)
15g.74896194T>GCA393175848MPIc.713T>G (p.Leu238Trp)
c.530T>G (p.Leu177Trp)
c.563T>G (p.Leu188Trp)
c.653T>G (p.Leu218Trp)
c.256-1345T>G (n.256-1345T>G)
c.380T>G (p.Leu127Trp)
n.761T>G
c.491T>G (p.Leu164Trp)
c.701T>G (p.Leu234Trp)
ClinVar
15g.74896195G>ACA491491383MPIc.714G>A (p.Leu238=)
c.531G>A (p.Leu177=)
c.564G>A (p.Leu188=)
c.654G>A (p.Leu218=)
c.256-1344G>A (n.256-1344G>A)
c.381G>A (p.Leu127=)
n.762G>A
c.492G>A (p.Leu164=)
c.702G>A (p.Leu234=)
15g.74896195G>CCA393175849MPIc.714G>C (p.Leu238Phe)
c.531G>C (p.Leu177Phe)
c.564G>C (p.Leu188Phe)
c.654G>C (p.Leu218Phe)
c.256-1344G>C (n.256-1344G>C)
c.381G>C (p.Leu127Phe)
n.762G>C
c.492G>C (p.Leu164Phe)
c.702G>C (p.Leu234Phe)
gnomAD v4
15g.74896195G>TCA393175850MPIc.714G>T (p.Leu238Phe)
c.531G>T (p.Leu177Phe)
c.564G>T (p.Leu188Phe)
c.654G>T (p.Leu218Phe)
c.256-1344G>T (n.256-1344G>T)
c.381G>T (p.Leu127Phe)
n.762G>T
c.492G>T (p.Leu164Phe)
c.702G>T (p.Leu234Phe)
15g.74896195_74896196delinsGCCA2187901775MPIc.714_715delinsGC (p.Leu238=)
c.531_532delinsGC (p.Leu177=)
c.564_565delinsGC (p.Leu188=)
c.654_655delinsGC (p.Leu218=)
c.256-1344_256-1343delinsGC (n.256-1344_256-1343delinsGC)
c.381_382delinsGC (p.Leu127=)
n.762_763delinsGC
c.492_493delinsGC (p.Leu164=)
c.702_703delinsGC (p.Leu234=)
15g.74896196delCA619413141MPIc.715del (p.Leu239TyrfsTer19)
c.532del (p.Leu178TyrfsTer19)
c.565del (p.Leu189TyrfsTer19)
c.655del (p.Leu219TyrfsTer19)
c.256-1343del (n.256-1343del)
c.382del (p.Leu128TyrfsTer19)
n.763del
c.493del (p.Leu165TyrfsTer19)
c.703del (p.Leu235TyrfsTer19)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896196C>ACA393175852MPIc.715C>A (p.Leu239Ile)
c.532C>A (p.Leu178Ile)
c.565C>A (p.Leu189Ile)
c.655C>A (p.Leu219Ile)
c.256-1343C>A (n.256-1343C>A)
c.382C>A (p.Leu128Ile)
n.763C>A
c.493C>A (p.Leu165Ile)
c.703C>A (p.Leu235Ile)
15g.74896196C>GCA393175851MPIc.715C>G (p.Leu239Val)
c.532C>G (p.Leu178Val)
c.565C>G (p.Leu189Val)
c.655C>G (p.Leu219Val)
c.256-1343C>G (n.256-1343C>G)
c.382C>G (p.Leu128Val)
n.763C>G
c.493C>G (p.Leu165Val)
c.703C>G (p.Leu235Val)
15g.74896196C>TCA491491384MPIc.715C>T (p.Leu239=)
c.532C>T (p.Leu178=)
c.565C>T (p.Leu189=)
c.655C>T (p.Leu219=)
c.256-1343C>T (n.256-1343C>T)
c.382C>T (p.Leu128=)
n.763C>T
c.493C>T (p.Leu165=)
c.703C>T (p.Leu235=)
15g.74896197T>ACA393175853MPIc.716T>A (p.Leu239Gln)
c.533T>A (p.Leu178Gln)
c.566T>A (p.Leu189Gln)
c.656T>A (p.Leu219Gln)
c.256-1342T>A (n.256-1342T>A)
c.383T>A (p.Leu128Gln)
n.764T>A
c.494T>A (p.Leu165Gln)
c.704T>A (p.Leu235Gln)
15g.74896197T>CCA393175854MPIc.716T>C (p.Leu239Pro)
c.533T>C (p.Leu178Pro)
c.566T>C (p.Leu189Pro)
c.656T>C (p.Leu219Pro)
c.256-1342T>C (n.256-1342T>C)
c.383T>C (p.Leu128Pro)
n.764T>C
c.494T>C (p.Leu165Pro)
c.704T>C (p.Leu235Pro)
15g.74896197T>GCA393175855MPIc.716T>G (p.Leu239Arg)
c.533T>G (p.Leu178Arg)
c.566T>G (p.Leu189Arg)
c.656T>G (p.Leu219Arg)
c.256-1342T>G (n.256-1342T>G)
c.383T>G (p.Leu128Arg)
n.764T>G
c.494T>G (p.Leu165Arg)
c.704T>G (p.Leu235Arg)
15g.74896198A>CCA491491385MPIc.717A>C (p.Leu239=)
c.534A>C (p.Leu178=)
c.567A>C (p.Leu189=)
c.657A>C (p.Leu219=)
c.256-1341A>C (n.256-1341A>C)
c.384A>C (p.Leu128=)
n.765A>C
c.495A>C (p.Leu165=)
c.705A>C (p.Leu235=)
15g.74896198A>GCA491491387MPIc.717A>G (p.Leu239=)
c.534A>G (p.Leu178=)
c.567A>G (p.Leu189=)
c.657A>G (p.Leu219=)
c.256-1341A>G (n.256-1341A>G)
c.384A>G (p.Leu128=)
n.765A>G
c.495A>G (p.Leu165=)
c.705A>G (p.Leu235=)
gnomAD v4
15g.74896198A>TCA491491386MPIc.717A>T (p.Leu239=)
c.534A>T (p.Leu178=)
c.567A>T (p.Leu189=)
c.657A>T (p.Leu219=)
c.256-1341A>T (n.256-1341A>T)
c.384A>T (p.Leu128=)
n.765A>T
c.495A>T (p.Leu165=)
c.705A>T (p.Leu235=)
15g.74896199C>ACA393175856MPIc.718C>A (p.Gln240Lys)
c.535C>A (p.Gln179Lys)
c.568C>A (p.Gln190Lys)
c.658C>A (p.Gln220Lys)
c.256-1340C>A (n.256-1340C>A)
c.385C>A (p.Gln129Lys)
n.766C>A
c.496C>A (p.Gln166Lys)
c.706C>A (p.Gln236Lys)
15g.74896199C=CA2187901780MPIc.718C= (p.Gln240=)
c.535C= (p.Gln179=)
c.568C= (p.Gln190=)
c.658C= (p.Gln220=)
c.256-1340C= (n.256-1340C=)
c.385C= (p.Gln129=)
n.766C=
c.496C= (p.Gln166=)
c.706C= (p.Gln236=)
15g.74896199C>GCA393175857MPIc.718C>G (p.Gln240Glu)
c.535C>G (p.Gln179Glu)
c.568C>G (p.Gln190Glu)
c.658C>G (p.Gln220Glu)
c.256-1340C>G (n.256-1340C>G)
c.385C>G (p.Gln129Glu)
n.766C>G
c.496C>G (p.Gln166Glu)
c.706C>G (p.Gln236Glu)
15g.74896199C>TCA272825442MPIc.718C>T (p.Gln240Ter)
c.535C>T (p.Gln179Ter)
c.568C>T (p.Gln190Ter)
c.658C>T (p.Gln220Ter)
c.256-1340C>T (n.256-1340C>T)
c.385C>T (p.Gln129Ter)
n.766C>T
c.496C>T (p.Gln166Ter)
c.706C>T (p.Gln236Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896200A>CCA393175858MPIc.719A>C (p.Gln240Pro)
c.536A>C (p.Gln179Pro)
c.569A>C (p.Gln190Pro)
c.659A>C (p.Gln220Pro)
c.256-1339A>C (n.256-1339A>C)
c.386A>C (p.Gln129Pro)
n.767A>C
c.497A>C (p.Gln166Pro)
c.707A>C (p.Gln236Pro)
15g.74896200A>GCA393175860MPIc.719A>G (p.Gln240Arg)
c.536A>G (p.Gln179Arg)
c.569A>G (p.Gln190Arg)
c.659A>G (p.Gln220Arg)
c.256-1339A>G (n.256-1339A>G)
c.386A>G (p.Gln129Arg)
n.767A>G
c.497A>G (p.Gln166Arg)
c.707A>G (p.Gln236Arg)
15g.74896200A>TCA393175859MPIc.719A>T (p.Gln240Leu)
c.536A>T (p.Gln179Leu)
c.569A>T (p.Gln190Leu)
c.659A>T (p.Gln220Leu)
c.256-1339A>T (n.256-1339A>T)
c.386A>T (p.Gln129Leu)
n.767A>T
c.497A>T (p.Gln166Leu)
c.707A>T (p.Gln236Leu)
15g.74896201G>ACA491491388MPIc.720G>A (p.Gln240=)
c.537G>A (p.Gln179=)
c.570G>A (p.Gln190=)
c.660G>A (p.Gln220=)
c.256-1338G>A (n.256-1338G>A)
c.387G>A (p.Gln129=)
n.768G>A
c.498G>A (p.Gln166=)
c.708G>A (p.Gln236=)
15g.74896201G>CCA393175861MPIc.720G>C (p.Gln240His)
c.537G>C (p.Gln179His)
c.570G>C (p.Gln190His)
c.660G>C (p.Gln220His)
c.256-1338G>C (n.256-1338G>C)
c.387G>C (p.Gln129His)
n.768G>C
c.498G>C (p.Gln166His)
c.708G>C (p.Gln236His)
gnomAD v4
15g.74896201G>TCA393175862MPIc.720G>T (p.Gln240His)
c.537G>T (p.Gln179His)
c.570G>T (p.Gln190His)
c.660G>T (p.Gln220His)
c.256-1338G>T (n.256-1338G>T)
c.387G>T (p.Gln129His)
n.768G>T
c.498G>T (p.Gln166His)
c.708G>T (p.Gln236His)
15g.74896202C>ACA393175863MPIc.721C>A (p.Leu241Met)
c.538C>A (p.Leu180Met)
c.571C>A (p.Leu191Met)
c.661C>A (p.Leu221Met)
c.256-1337C>A (n.256-1337C>A)
c.388C>A (p.Leu130Met)
n.769C>A
c.499C>A (p.Leu167Met)
c.709C>A (p.Leu237Met)
15g.74896202C>GCA393175864MPIc.721C>G (p.Leu241Val)
c.538C>G (p.Leu180Val)
c.571C>G (p.Leu191Val)
c.661C>G (p.Leu221Val)
c.256-1337C>G (n.256-1337C>G)
c.388C>G (p.Leu130Val)
n.769C>G
c.499C>G (p.Leu167Val)
c.709C>G (p.Leu237Val)
gnomAD v4
15g.74896202C>TCA491491389MPIc.721C>T (p.Leu241=)
c.538C>T (p.Leu180=)
c.571C>T (p.Leu191=)
c.661C>T (p.Leu221=)
c.256-1337C>T (n.256-1337C>T)
c.388C>T (p.Leu130=)
n.769C>T
c.499C>T (p.Leu167=)
c.709C>T (p.Leu237=)
15g.74896203T>ACA393175865MPIc.722T>A (p.Leu241Gln)
c.539T>A (p.Leu180Gln)
c.572T>A (p.Leu191Gln)
c.662T>A (p.Leu221Gln)
c.256-1336T>A (n.256-1336T>A)
c.389T>A (p.Leu130Gln)
n.770T>A
c.500T>A (p.Leu167Gln)
c.710T>A (p.Leu237Gln)
15g.74896203T>CCA393175866MPIc.722T>C (p.Leu241Pro)
c.539T>C (p.Leu180Pro)
c.572T>C (p.Leu191Pro)
c.662T>C (p.Leu221Pro)
c.256-1336T>C (n.256-1336T>C)
c.389T>C (p.Leu130Pro)
n.770T>C
c.500T>C (p.Leu167Pro)
c.710T>C (p.Leu237Pro)
15g.74896203T>GCA393175867MPIc.722T>G (p.Leu241Arg)
c.539T>G (p.Leu180Arg)
c.572T>G (p.Leu191Arg)
c.662T>G (p.Leu221Arg)
c.256-1336T>G (n.256-1336T>G)
c.389T>G (p.Leu130Arg)
n.770T>G
c.500T>G (p.Leu167Arg)
c.710T>G (p.Leu237Arg)
15g.74896204G>ACA272825445MPIc.723G>A (p.Leu241=)
c.540G>A (p.Leu180=)
c.573G>A (p.Leu191=)
c.663G>A (p.Leu221=)
c.256-1335G>A (n.256-1335G>A)
c.390G>A (p.Leu130=)
n.771G>A
c.501G>A (p.Leu167=)
c.711G>A (p.Leu237=)
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.74896204G>CCA491491390MPIc.723G>C (p.Leu241=)
c.540G>C (p.Leu180=)
c.573G>C (p.Leu191=)
c.663G>C (p.Leu221=)
c.256-1335G>C (n.256-1335G>C)
c.390G>C (p.Leu130=)
n.771G>C
c.501G>C (p.Leu167=)
c.711G>C (p.Leu237=)
15g.74896204G=CA2187901782MPIc.723G= (p.Leu241=)
c.540G= (p.Leu180=)
c.573G= (p.Leu191=)
c.663G= (p.Leu221=)
c.256-1335G= (n.256-1335G=)
c.390G= (p.Leu130=)
n.771G=
c.501G= (p.Leu167=)
c.711G= (p.Leu237=)
15g.74896204G>TCA491491391MPIc.723G>T (p.Leu241=)
c.540G>T (p.Leu180=)
c.573G>T (p.Leu191=)
c.663G>T (p.Leu221=)
c.256-1335G>T (n.256-1335G>T)
c.390G>T (p.Leu130=)
n.771G>T
c.501G>T (p.Leu167=)
c.711G>T (p.Leu237=)
15g.74896205C>ACA393175868MPIc.724C>A (p.His242Asn)
c.541C>A (p.His181Asn)
c.574C>A (p.His192Asn)
c.664C>A (p.His222Asn)
c.256-1334C>A (n.256-1334C>A)
c.391C>A (p.His131Asn)
n.772C>A
c.502C>A (p.His168Asn)
c.712C>A (p.His238Asn)
15g.74896205C>GCA393175869MPIc.724C>G (p.His242Asp)
c.541C>G (p.His181Asp)
c.574C>G (p.His192Asp)
c.664C>G (p.His222Asp)
c.256-1334C>G (n.256-1334C>G)
c.391C>G (p.His131Asp)
n.772C>G
c.502C>G (p.His168Asp)
c.712C>G (p.His238Asp)
15g.74896205C>TCA393175870MPIc.724C>T (p.His242Tyr)
c.541C>T (p.His181Tyr)
c.574C>T (p.His192Tyr)
c.664C>T (p.His222Tyr)
c.256-1334C>T (n.256-1334C>T)
c.391C>T (p.His131Tyr)
n.772C>T
c.502C>T (p.His168Tyr)
c.712C>T (p.His238Tyr)
15g.74896206A>CCA393175873MPIc.725A>C (p.His242Pro)
c.542A>C (p.His181Pro)
c.575A>C (p.His192Pro)
c.665A>C (p.His222Pro)
c.256-1333A>C (n.256-1333A>C)
c.392A>C (p.His131Pro)
n.773A>C
c.503A>C (p.His168Pro)
c.713A>C (p.His238Pro)
15g.74896206A>GCA393175872MPIc.725A>G (p.His242Arg)
c.542A>G (p.His181Arg)
c.575A>G (p.His192Arg)
c.665A>G (p.His222Arg)
c.256-1333A>G (n.256-1333A>G)
c.392A>G (p.His131Arg)
n.773A>G
c.503A>G (p.His168Arg)
c.713A>G (p.His238Arg)
15g.74896206A>TCA393175871MPIc.725A>T (p.His242Leu)
c.542A>T (p.His181Leu)
c.575A>T (p.His192Leu)
c.665A>T (p.His222Leu)
c.256-1333A>T (n.256-1333A>T)
c.392A>T (p.His131Leu)
n.773A>T
c.503A>T (p.His168Leu)
c.713A>T (p.His238Leu)
15g.74896207C>ACA393175874MPIc.726C>A (p.His242Gln)
c.543C>A (p.His181Gln)
c.576C>A (p.His192Gln)
c.666C>A (p.His222Gln)
c.256-1332C>A (n.256-1332C>A)
c.393C>A (p.His131Gln)
n.774C>A
c.504C>A (p.His168Gln)
c.714C>A (p.His238Gln)
15g.74896207C>GCA393175875MPIc.726C>G (p.His242Gln)
c.543C>G (p.His181Gln)
c.576C>G (p.His192Gln)
c.666C>G (p.His222Gln)
c.256-1332C>G (n.256-1332C>G)
c.393C>G (p.His131Gln)
n.774C>G
c.504C>G (p.His168Gln)
c.714C>G (p.His238Gln)
15g.74896207C>TCA491491392MPIc.726C>T (p.His242=)
c.543C>T (p.His181=)
c.576C>T (p.His192=)
c.666C>T (p.His222=)
c.256-1332C>T (n.256-1332C>T)
c.393C>T (p.His131=)
n.774C>T
c.504C>T (p.His168=)
c.714C>T (p.His238=)
15g.74896208C>ACA393175876MPIc.727C>A (p.Gln243Lys)
c.544C>A (p.Gln182Lys)
c.577C>A (p.Gln193Lys)
c.667C>A (p.Gln223Lys)
c.256-1331C>A (n.256-1331C>A)
c.394C>A (p.Gln132Lys)
n.775C>A
c.505C>A (p.Gln169Lys)
c.715C>A (p.Gln239Lys)
15g.74896208C=CA2187901787MPIc.727C= (p.Gln243=)
c.544C= (p.Gln182=)
c.577C= (p.Gln193=)
c.667C= (p.Gln223=)
c.256-1331C= (n.256-1331C=)
c.394C= (p.Gln132=)
n.775C=
c.505C= (p.Gln169=)
c.715C= (p.Gln239=)
15g.74896208C>GCA393175877MPIc.727C>G (p.Gln243Glu)
c.544C>G (p.Gln182Glu)
c.577C>G (p.Gln193Glu)
c.667C>G (p.Gln223Glu)
c.256-1331C>G (n.256-1331C>G)
c.394C>G (p.Gln132Glu)
n.775C>G
c.505C>G (p.Gln169Glu)
c.715C>G (p.Gln239Glu)
15g.74896208C>TCA7662530MPIc.727C>T (p.Gln243Ter)
c.544C>T (p.Gln182Ter)
c.577C>T (p.Gln193Ter)
c.667C>T (p.Gln223Ter)
c.256-1331C>T (n.256-1331C>T)
c.394C>T (p.Gln132Ter)
n.775C>T
c.505C>T (p.Gln169Ter)
c.715C>T (p.Gln239Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896209A>CCA393175878MPIc.728A>C (p.Gln243Pro)
c.545A>C (p.Gln182Pro)
c.578A>C (p.Gln193Pro)
c.668A>C (p.Gln223Pro)
c.256-1330A>C (n.256-1330A>C)
c.395A>C (p.Gln132Pro)
n.776A>C
c.506A>C (p.Gln169Pro)
c.716A>C (p.Gln239Pro)
15g.74896209A>GCA393175879MPIc.728A>G (p.Gln243Arg)
c.545A>G (p.Gln182Arg)
c.578A>G (p.Gln193Arg)
c.668A>G (p.Gln223Arg)
c.256-1330A>G (n.256-1330A>G)
c.395A>G (p.Gln132Arg)
n.776A>G
c.506A>G (p.Gln169Arg)
c.716A>G (p.Gln239Arg)
15g.74896209A>TCA393175880MPIc.728A>T (p.Gln243Leu)
c.545A>T (p.Gln182Leu)
c.578A>T (p.Gln193Leu)
c.668A>T (p.Gln223Leu)
c.256-1330A>T (n.256-1330A>T)
c.395A>T (p.Gln132Leu)
n.776A>T
c.506A>T (p.Gln169Leu)
c.716A>T (p.Gln239Leu)
gnomAD v4
15g.74896210G>ACA491491393MPIc.729G>A (p.Gln243=)
c.546G>A (p.Gln182=)
c.579G>A (p.Gln193=)
c.669G>A (p.Gln223=)
c.256-1329G>A (n.256-1329G>A)
c.396G>A (p.Gln132=)
n.777G>A
c.507G>A (p.Gln169=)
c.717G>A (p.Gln239=)
15g.74896210G>CCA393175881MPIc.729G>C (p.Gln243His)
c.546G>C (p.Gln182His)
c.579G>C (p.Gln193His)
c.669G>C (p.Gln223His)
c.256-1329G>C (n.256-1329G>C)
c.396G>C (p.Gln132His)
n.777G>C
c.507G>C (p.Gln169His)
c.717G>C (p.Gln239His)
dbSNP
15g.74896210G=CA2187901791MPIc.729G= (p.Gln243=)
c.546G= (p.Gln182=)
c.579G= (p.Gln193=)
c.669G= (p.Gln223=)
c.256-1329G= (n.256-1329G=)
c.396G= (p.Gln132=)
n.777G=
c.507G= (p.Gln169=)
c.717G= (p.Gln239=)
15g.74896210G>TCA393175882MPIc.729G>T (p.Gln243His)
c.546G>T (p.Gln182His)
c.579G>T (p.Gln193His)
c.669G>T (p.Gln223His)
c.256-1329G>T (n.256-1329G>T)
c.396G>T (p.Gln132His)
n.777G>T
c.507G>T (p.Gln169His)
c.717G>T (p.Gln239His)
15g.74896211C>ACA393175883MPIc.730C>A (p.Gln244Lys)
c.547C>A (p.Gln183Lys)
c.580C>A (p.Gln194Lys)
c.670C>A (p.Gln224Lys)
c.256-1328C>A (n.256-1328C>A)
c.397C>A (p.Gln133Lys)
n.778C>A
c.508C>A (p.Gln170Lys)
c.718C>A (p.Gln240Lys)
15g.74896211C>GCA393175884MPIc.730C>G (p.Gln244Glu)
c.547C>G (p.Gln183Glu)
c.580C>G (p.Gln194Glu)
c.670C>G (p.Gln224Glu)
c.256-1328C>G (n.256-1328C>G)
c.397C>G (p.Gln133Glu)
n.778C>G
c.508C>G (p.Gln170Glu)
c.718C>G (p.Gln240Glu)
15g.74896211C>TCA393175885MPIc.730C>T (p.Gln244Ter)
c.547C>T (p.Gln183Ter)
c.580C>T (p.Gln194Ter)
c.670C>T (p.Gln224Ter)
c.256-1328C>T (n.256-1328C>T)
c.397C>T (p.Gln133Ter)
n.778C>T
c.508C>T (p.Gln170Ter)
c.718C>T (p.Gln240Ter)
15g.74896212A>CCA393175888MPIc.731A>C (p.Gln244Pro)
c.548A>C (p.Gln183Pro)
c.581A>C (p.Gln194Pro)
c.671A>C (p.Gln224Pro)
c.256-1327A>C (n.256-1327A>C)
c.398A>C (p.Gln133Pro)
n.779A>C
c.509A>C (p.Gln170Pro)
c.719A>C (p.Gln240Pro)
15g.74896212A>GCA393175886MPIc.731A>G (p.Gln244Arg)
c.548A>G (p.Gln183Arg)
c.581A>G (p.Gln194Arg)
c.671A>G (p.Gln224Arg)
c.256-1327A>G (n.256-1327A>G)
c.398A>G (p.Gln133Arg)
n.779A>G
c.509A>G (p.Gln170Arg)
c.719A>G (p.Gln240Arg)
15g.74896212A>TCA393175887MPIc.731A>T (p.Gln244Leu)
c.548A>T (p.Gln183Leu)
c.581A>T (p.Gln194Leu)
c.671A>T (p.Gln224Leu)
c.256-1327A>T (n.256-1327A>T)
c.398A>T (p.Gln133Leu)
n.779A>T
c.509A>T (p.Gln170Leu)
c.719A>T (p.Gln240Leu)
15g.74896213G>ACA7662531MPIc.732G>A (p.Gln244=)
c.549G>A (p.Gln183=)
c.582G>A (p.Gln194=)
c.672G>A (p.Gln224=)
c.256-1326G>A (n.256-1326G>A)
c.399G>A (p.Gln133=)
n.780G>A
c.510G>A (p.Gln170=)
c.720G>A (p.Gln240=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896213G>CCA393175889MPIc.732G>C (p.Gln244His)
c.549G>C (p.Gln183His)
c.582G>C (p.Gln194His)
c.672G>C (p.Gln224His)
c.256-1326G>C (n.256-1326G>C)
c.399G>C (p.Gln133His)
n.780G>C
c.510G>C (p.Gln170His)
c.720G>C (p.Gln240His)
15g.74896213G=CA2187901795MPIc.732G= (p.Gln244=)
c.549G= (p.Gln183=)
c.582G= (p.Gln194=)
c.672G= (p.Gln224=)
c.256-1326G= (n.256-1326G=)
c.399G= (p.Gln133=)
n.780G=
c.510G= (p.Gln170=)
c.720G= (p.Gln240=)
15g.74896213G>TCA393175890MPIc.732G>T (p.Gln244His)
c.549G>T (p.Gln183His)
c.582G>T (p.Gln194His)
c.672G>T (p.Gln224His)
c.256-1326G>T (n.256-1326G>T)
c.399G>T (p.Gln133His)
n.780G>T
c.510G>T (p.Gln170His)
c.720G>T (p.Gln240His)
15g.74896214T>ACA393175891MPIc.733T>A (p.Tyr245Asn)
c.550T>A (p.Tyr184Asn)
c.583T>A (p.Tyr195Asn)
c.673T>A (p.Tyr225Asn)
c.256-1325T>A (n.256-1325T>A)
c.400T>A (p.Tyr134Asn)
n.781T>A
c.511T>A (p.Tyr171Asn)
c.721T>A (p.Tyr241Asn)
gnomAD v4
15g.74896214T>CCA393175892MPIc.733T>C (p.Tyr245His)
c.550T>C (p.Tyr184His)
c.583T>C (p.Tyr195His)
c.673T>C (p.Tyr225His)
c.256-1325T>C (n.256-1325T>C)
c.400T>C (p.Tyr134His)
n.781T>C
c.511T>C (p.Tyr171His)
c.721T>C (p.Tyr241His)
15g.74896214T>GCA393175893MPIc.733T>G (p.Tyr245Asp)
c.550T>G (p.Tyr184Asp)
c.583T>G (p.Tyr195Asp)
c.673T>G (p.Tyr225Asp)
c.256-1325T>G (n.256-1325T>G)
c.400T>G (p.Tyr134Asp)
n.781T>G
c.511T>G (p.Tyr171Asp)
c.721T>G (p.Tyr241Asp)
15g.74896215A>CCA393175894MPIc.734A>C (p.Tyr245Ser)
c.551A>C (p.Tyr184Ser)
c.584A>C (p.Tyr195Ser)
c.674A>C (p.Tyr225Ser)
c.256-1324A>C (n.256-1324A>C)
c.401A>C (p.Tyr134Ser)
n.782A>C
c.512A>C (p.Tyr171Ser)
c.722A>C (p.Tyr241Ser)
15g.74896215A>GCA393175895MPIc.734A>G (p.Tyr245Cys)
c.551A>G (p.Tyr184Cys)
c.584A>G (p.Tyr195Cys)
c.674A>G (p.Tyr225Cys)
c.256-1324A>G (n.256-1324A>G)
c.401A>G (p.Tyr134Cys)
n.782A>G
c.512A>G (p.Tyr171Cys)
c.722A>G (p.Tyr241Cys)
15g.74896215A>TCA393175896MPIc.734A>T (p.Tyr245Phe)
c.551A>T (p.Tyr184Phe)
c.584A>T (p.Tyr195Phe)
c.674A>T (p.Tyr225Phe)
c.256-1324A>T (n.256-1324A>T)
c.401A>T (p.Tyr134Phe)
n.782A>T
c.512A>T (p.Tyr171Phe)
c.722A>T (p.Tyr241Phe)
15g.74896216C>ACA393175897MPIc.735C>A (p.Tyr245Ter)
c.552C>A (p.Tyr184Ter)
c.585C>A (p.Tyr195Ter)
c.675C>A (p.Tyr225Ter)
c.256-1323C>A (n.256-1323C>A)
c.402C>A (p.Tyr134Ter)
n.783C>A
c.513C>A (p.Tyr171Ter)
c.723C>A (p.Tyr241Ter)
15g.74896216C>GCA393175898MPIc.735C>G (p.Tyr245Ter)
c.552C>G (p.Tyr184Ter)
c.585C>G (p.Tyr195Ter)
c.675C>G (p.Tyr225Ter)
c.256-1323C>G (n.256-1323C>G)
c.402C>G (p.Tyr134Ter)
n.783C>G
c.513C>G (p.Tyr171Ter)
c.723C>G (p.Tyr241Ter)
15g.74896216C>TCA491491394MPIc.735C>T (p.Tyr245=)
c.552C>T (p.Tyr184=)
c.585C>T (p.Tyr195=)
c.675C>T (p.Tyr225=)
c.256-1323C>T (n.256-1323C>T)
c.402C>T (p.Tyr134=)
n.783C>T
c.513C>T (p.Tyr171=)
c.723C>T (p.Tyr241=)
15g.74896216_74896221delCA2629530533MPIc.735_740del (p.Pro246_Gly247del)
c.552_557del (p.Pro185_Gly186del)
c.585_590del (p.Pro196_Gly197del)
c.675_680del (p.Pro226_Gly227del)
c.256-1323_256-1318del (n.256-1323_256-1318del)
c.402_407del (p.Pro135_Gly136del)
n.783_788del
c.513_518del (p.Pro172_Gly173del)
c.723_728del (p.Pro242_Gly243del)
gnomAD v4
15g.74896217C>ACA393175901MPIc.736C>A (p.Pro246Thr)
c.553C>A (p.Pro185Thr)
c.586C>A (p.Pro196Thr)
c.676C>A (p.Pro226Thr)
c.256-1322C>A (n.256-1322C>A)
c.403C>A (p.Pro135Thr)
n.784C>A
c.514C>A (p.Pro172Thr)
c.724C>A (p.Pro242Thr)
15g.74896217C>GCA393175900MPIc.736C>G (p.Pro246Ala)
c.553C>G (p.Pro185Ala)
c.586C>G (p.Pro196Ala)
c.676C>G (p.Pro226Ala)
c.256-1322C>G (n.256-1322C>G)
c.403C>G (p.Pro135Ala)
n.784C>G
c.514C>G (p.Pro172Ala)
c.724C>G (p.Pro242Ala)
15g.74896217C>TCA393175899MPIc.736C>T (p.Pro246Ser)
c.553C>T (p.Pro185Ser)
c.586C>T (p.Pro196Ser)
c.676C>T (p.Pro226Ser)
c.256-1322C>T (n.256-1322C>T)
c.403C>T (p.Pro135Ser)
n.784C>T
c.514C>T (p.Pro172Ser)
c.724C>T (p.Pro242Ser)
15g.74896218C>ACA393175902MPIc.737C>A (p.Pro246Gln)
c.554C>A (p.Pro185Gln)
c.587C>A (p.Pro196Gln)
c.677C>A (p.Pro226Gln)
c.256-1321C>A (n.256-1321C>A)
c.404C>A (p.Pro135Gln)
n.785C>A
c.515C>A (p.Pro172Gln)
c.725C>A (p.Pro242Gln)
15g.74896218C=CA2187901800MPIc.737C= (p.Pro246=)
c.554C= (p.Pro185=)
c.587C= (p.Pro196=)
c.677C= (p.Pro226=)
c.256-1321C= (n.256-1321C=)
c.404C= (p.Pro135=)
n.785C=
c.515C= (p.Pro172=)
c.725C= (p.Pro242=)
15g.74896218C>GCA393175904MPIc.737C>G (p.Pro246Arg)
c.554C>G (p.Pro185Arg)
c.587C>G (p.Pro196Arg)
c.677C>G (p.Pro226Arg)
c.256-1321C>G (n.256-1321C>G)
c.404C>G (p.Pro135Arg)
n.785C>G
c.515C>G (p.Pro172Arg)
c.725C>G (p.Pro242Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896218C>TCA393175903MPIc.737C>T (p.Pro246Leu)
c.554C>T (p.Pro185Leu)
c.587C>T (p.Pro196Leu)
c.677C>T (p.Pro226Leu)
c.256-1321C>T (n.256-1321C>T)
c.404C>T (p.Pro135Leu)
n.785C>T
c.515C>T (p.Pro172Leu)
c.725C>T (p.Pro242Leu)
15g.74896219A>CCA491491395MPIc.738A>C (p.Pro246=)
c.555A>C (p.Pro185=)
c.588A>C (p.Pro196=)
c.678A>C (p.Pro226=)
c.256-1320A>C (n.256-1320A>C)
c.405A>C (p.Pro135=)
n.786A>C
c.516A>C (p.Pro172=)
c.726A>C (p.Pro242=)
15g.74896219A>GCA491491396MPIc.738A>G (p.Pro246=)
c.555A>G (p.Pro185=)
c.588A>G (p.Pro196=)
c.678A>G (p.Pro226=)
c.256-1320A>G (n.256-1320A>G)
c.405A>G (p.Pro135=)
n.786A>G
c.516A>G (p.Pro172=)
c.726A>G (p.Pro242=)
15g.74896219A>TCA491491397MPIc.738A>T (p.Pro246=)
c.555A>T (p.Pro185=)
c.588A>T (p.Pro196=)
c.678A>T (p.Pro226=)
c.256-1320A>T (n.256-1320A>T)
c.405A>T (p.Pro135=)
n.786A>T
c.516A>T (p.Pro172=)
c.726A>T (p.Pro242=)
15g.74896219_74896220delinsAGCA2187901802MPIc.738_739delinsAG (p.Pro246=)
c.555_556delinsAG (p.Pro185=)
c.588_589delinsAG (p.Pro196=)
c.678_679delinsAG (p.Pro226=)
c.256-1320_256-1319delinsAG (n.256-1320_256-1319delinsAG)
c.405_406delinsAG (p.Pro135=)
n.786_787delinsAG
c.516_517delinsAG (p.Pro172=)
c.726_727delinsAG (p.Pro242=)
15g.74896220G>ACA7662532MPIc.739G>A (p.Gly247Ser)
c.556G>A (p.Gly186Ser)
c.589G>A (p.Gly197Ser)
c.679G>A (p.Gly227Ser)
c.256-1319G>A (n.256-1319G>A)
c.406G>A (p.Gly136Ser)
n.787G>A
c.517G>A (p.Gly173Ser)
c.727G>A (p.Gly243Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896220G>CCA393175905MPIc.739G>C (p.Gly247Arg)
c.556G>C (p.Gly186Arg)
c.589G>C (p.Gly197Arg)
c.679G>C (p.Gly227Arg)
c.256-1319G>C (n.256-1319G>C)
c.406G>C (p.Gly136Arg)
n.787G>C
c.517G>C (p.Gly173Arg)
c.727G>C (p.Gly243Arg)
dbSNP gnomAD v3 gnomAD v4
15g.74896220G=CA2187901806MPIc.739G= (p.Gly247=)
c.556G= (p.Gly186=)
c.589G= (p.Gly197=)
c.679G= (p.Gly227=)
c.256-1319G= (n.256-1319G=)
c.406G= (p.Gly136=)
n.787G=
c.517G= (p.Gly173=)
c.727G= (p.Gly243=)
15g.74896220G>TCA393175906MPIc.739G>T (p.Gly247Cys)
c.556G>T (p.Gly186Cys)
c.589G>T (p.Gly197Cys)
c.679G>T (p.Gly227Cys)
c.256-1319G>T (n.256-1319G>T)
c.406G>T (p.Gly136Cys)
n.787G>T
c.517G>T (p.Gly173Cys)
c.727G>T (p.Gly243Cys)
15g.74896221delCA16041750MPIc.740del (p.Gly247ValfsTer11)
c.557del (p.Gly186ValfsTer11)
c.590del (p.Gly197ValfsTer11)
c.680del (p.Gly227ValfsTer11)
c.256-1318del (n.256-1318del)
c.407del (p.Gly136ValfsTer11)
n.788del
c.518del (p.Gly173ValfsTer11)
c.728del (p.Gly243ValfsTer11)
ClinVar dbSNP
15g.74896221G>ACA393175907MPIc.740G>A (p.Gly247Asp)
c.557G>A (p.Gly186Asp)
c.590G>A (p.Gly197Asp)
c.680G>A (p.Gly227Asp)
c.256-1318G>A (n.256-1318G>A)
c.407G>A (p.Gly136Asp)
n.788G>A
c.518G>A (p.Gly173Asp)
c.728G>A (p.Gly243Asp)
gnomAD v4
15g.74896221G>CCA393175908MPIc.740G>C (p.Gly247Ala)
c.557G>C (p.Gly186Ala)
c.590G>C (p.Gly197Ala)
c.680G>C (p.Gly227Ala)
c.256-1318G>C (n.256-1318G>C)
c.407G>C (p.Gly136Ala)
n.788G>C
c.518G>C (p.Gly173Ala)
c.728G>C (p.Gly243Ala)
15g.74896221G>TCA393175909MPIc.740G>T (p.Gly247Val)
c.557G>T (p.Gly186Val)
c.590G>T (p.Gly197Val)
c.680G>T (p.Gly227Val)
c.256-1318G>T (n.256-1318G>T)
c.407G>T (p.Gly136Val)
n.788G>T
c.518G>T (p.Gly173Val)
c.728G>T (p.Gly243Val)
15g.74896222T>ACA7662533MPIc.741T>A (p.Gly247=)
c.558T>A (p.Gly186=)
c.591T>A (p.Gly197=)
c.681T>A (p.Gly227=)
c.256-1317T>A (n.256-1317T>A)
c.408T>A (p.Gly136=)
n.789T>A
c.519T>A (p.Gly173=)
c.729T>A (p.Gly243=)
dbSNP ExAC gnomAD v2 gnomAD v4
15g.74896222T>CCA491491398MPIc.741T>C (p.Gly247=)
c.558T>C (p.Gly186=)
c.591T>C (p.Gly197=)
c.681T>C (p.Gly227=)
c.256-1317T>C (n.256-1317T>C)
c.408T>C (p.Gly136=)
n.789T>C
c.519T>C (p.Gly173=)
c.729T>C (p.Gly243=)
gnomAD v4
15g.74896222T>GCA491491399MPIc.741T>G (p.Gly247=)
c.558T>G (p.Gly186=)
c.591T>G (p.Gly197=)
c.681T>G (p.Gly227=)
c.256-1317T>G (n.256-1317T>G)
c.408T>G (p.Gly136=)
n.789T>G
c.519T>G (p.Gly173=)
c.729T>G (p.Gly243=)
15g.74896222T=CA2187901810MPIc.741T= (p.Gly247=)
c.558T= (p.Gly186=)
c.591T= (p.Gly197=)
c.681T= (p.Gly227=)
c.256-1317T= (n.256-1317T=)
c.408T= (p.Gly136=)
n.789T=
c.519T= (p.Gly173=)
c.729T= (p.Gly243=)
15g.74896223G>ACA393175910MPIc.742G>A (p.Asp248Asn)
c.559G>A (p.Asp187Asn)
c.592G>A (p.Asp198Asn)
c.682G>A (p.Asp228Asn)
c.256-1316G>A (n.256-1316G>A)
c.409G>A (p.Asp137Asn)
n.790G>A
c.520G>A (p.Asp174Asn)
c.730G>A (p.Asp244Asn)
15g.74896223G>CCA393175911MPIc.742G>C (p.Asp248His)
c.559G>C (p.Asp187His)
c.592G>C (p.Asp198His)
c.682G>C (p.Asp228His)
c.256-1316G>C (n.256-1316G>C)
c.409G>C (p.Asp137His)
n.790G>C
c.520G>C (p.Asp174His)
c.730G>C (p.Asp244His)
15g.74896223G>TCA393175912MPIc.742G>T (p.Asp248Tyr)
c.559G>T (p.Asp187Tyr)
c.592G>T (p.Asp198Tyr)
c.682G>T (p.Asp228Tyr)
c.256-1316G>T (n.256-1316G>T)
c.409G>T (p.Asp137Tyr)
n.790G>T
c.520G>T (p.Asp174Tyr)
c.730G>T (p.Asp244Tyr)
15g.74896224A>CCA393175913MPIc.743A>C (p.Asp248Ala)
c.560A>C (p.Asp187Ala)
c.593A>C (p.Asp198Ala)
c.683A>C (p.Asp228Ala)
c.256-1315A>C (n.256-1315A>C)
c.410A>C (p.Asp137Ala)
n.791A>C
c.521A>C (p.Asp174Ala)
c.731A>C (p.Asp244Ala)
15g.74896224A>GCA393175914MPIc.743A>G (p.Asp248Gly)
c.560A>G (p.Asp187Gly)
c.593A>G (p.Asp198Gly)
c.683A>G (p.Asp228Gly)
c.256-1315A>G (n.256-1315A>G)
c.410A>G (p.Asp137Gly)
n.791A>G
c.521A>G (p.Asp174Gly)
c.731A>G (p.Asp244Gly)
gnomAD v4
15g.74896224A>TCA393175915MPIc.743A>T (p.Asp248Val)
c.560A>T (p.Asp187Val)
c.593A>T (p.Asp198Val)
c.683A>T (p.Asp228Val)
c.256-1315A>T (n.256-1315A>T)
c.410A>T (p.Asp137Val)
n.791A>T
c.521A>T (p.Asp174Val)
c.731A>T (p.Asp244Val)
15g.74896225T>ACA393175917MPIc.744T>A (p.Asp248Glu)
c.561T>A (p.Asp187Glu)
c.594T>A (p.Asp198Glu)
c.684T>A (p.Asp228Glu)
c.256-1314T>A (n.256-1314T>A)
c.411T>A (p.Asp137Glu)
n.792T>A
c.522T>A (p.Asp174Glu)
c.732T>A (p.Asp244Glu)
15g.74896225T>CCA491491400MPIc.744T>C (p.Asp248=)
c.561T>C (p.Asp187=)
c.594T>C (p.Asp198=)
c.684T>C (p.Asp228=)
c.256-1314T>C (n.256-1314T>C)
c.411T>C (p.Asp137=)
n.792T>C
c.522T>C (p.Asp174=)
c.732T>C (p.Asp244=)
ClinVar dbSNP gnomAD v4
15g.74896225T>GCA393175916MPIc.744T>G (p.Asp248Glu)
c.561T>G (p.Asp187Glu)
c.594T>G (p.Asp198Glu)
c.684T>G (p.Asp228Glu)
c.256-1314T>G (n.256-1314T>G)
c.411T>G (p.Asp137Glu)
n.792T>G
c.522T>G (p.Asp174Glu)
c.732T>G (p.Asp244Glu)
15g.74896226A=CA2187901815MPIc.745A= (p.Ile249=)
c.562A= (p.Ile188=)
c.595A= (p.Ile199=)
c.685A= (p.Ile229=)
c.256-1313A= (n.256-1313A=)
c.412A= (p.Ile138=)
n.793A=
c.523A= (p.Ile175=)
c.733A= (p.Ile245=)
15g.74896226A>CCA393175918MPIc.745A>C (p.Ile249Leu)
c.562A>C (p.Ile188Leu)
c.595A>C (p.Ile199Leu)
c.685A>C (p.Ile229Leu)
c.256-1313A>C (n.256-1313A>C)
c.412A>C (p.Ile138Leu)
n.793A>C
c.523A>C (p.Ile175Leu)
c.733A>C (p.Ile245Leu)
15g.74896226A>GCA393175919MPIc.745A>G (p.Ile249Val)
c.562A>G (p.Ile188Val)
c.595A>G (p.Ile199Val)
c.685A>G (p.Ile229Val)
c.256-1313A>G (n.256-1313A>G)
c.412A>G (p.Ile138Val)
n.793A>G
c.523A>G (p.Ile175Val)
c.733A>G (p.Ile245Val)
dbSNP gnomAD v3 gnomAD v4
15g.74896226A>TCA393175920MPIc.745A>T (p.Ile249Phe)
c.562A>T (p.Ile188Phe)
c.595A>T (p.Ile199Phe)
c.685A>T (p.Ile229Phe)
c.256-1313A>T (n.256-1313A>T)
c.412A>T (p.Ile138Phe)
n.793A>T
c.523A>T (p.Ile175Phe)
c.733A>T (p.Ile245Phe)
15g.74896226dupCA2573151156MPIc.745dup (p.Ile249AsnfsTer?)
c.562dup (p.Ile188AsnfsTer?)
c.595dup (p.Ile199AsnfsTer?)
c.685dup (p.Ile229AsnfsTer?)
c.256-1313dup (n.256-1313dup)
c.412dup (p.Ile138AsnfsTer?)
n.793dup
c.523dup (p.Ile175AsnfsTer?)
c.733dup (p.Ile245AsnfsTer?)
ClinVar dbSNP
15g.74896227T>ACA7662534MPIc.746T>A (p.Ile249Asn)
c.563T>A (p.Ile188Asn)
c.596T>A (p.Ile199Asn)
c.686T>A (p.Ile229Asn)
c.256-1312T>A (n.256-1312T>A)
c.413T>A (p.Ile138Asn)
n.794T>A
c.524T>A (p.Ile175Asn)
c.734T>A (p.Ile245Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896227T>CCA393175921MPIc.746T>C (p.Ile249Thr)
c.563T>C (p.Ile188Thr)
c.596T>C (p.Ile199Thr)
c.686T>C (p.Ile229Thr)
c.256-1312T>C (n.256-1312T>C)
c.413T>C (p.Ile138Thr)
n.794T>C
c.524T>C (p.Ile175Thr)
c.734T>C (p.Ile245Thr)
ClinVar dbSNP gnomAD v4
15g.74896227T>GCA393175922MPIc.746T>G (p.Ile249Ser)
c.563T>G (p.Ile188Ser)
c.596T>G (p.Ile199Ser)
c.686T>G (p.Ile229Ser)
c.256-1312T>G (n.256-1312T>G)
c.413T>G (p.Ile138Ser)
n.794T>G
c.524T>G (p.Ile175Ser)
c.734T>G (p.Ile245Ser)
dbSNP gnomAD v2 gnomAD v4
15g.74896227T=CA2187901818MPIc.746T= (p.Ile249=)
c.563T= (p.Ile188=)
c.596T= (p.Ile199=)
c.686T= (p.Ile229=)
c.256-1312T= (n.256-1312T=)
c.413T= (p.Ile138=)
n.794T=
c.524T= (p.Ile175=)
c.734T= (p.Ile245=)
15g.74896228C>ACA491491401MPIc.747C>A (p.Ile249=)
c.564C>A (p.Ile188=)
c.597C>A (p.Ile199=)
c.687C>A (p.Ile229=)
c.256-1311C>A (n.256-1311C>A)
c.414C>A (p.Ile138=)
n.795C>A
c.525C>A (p.Ile175=)
c.735C>A (p.Ile245=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.74896228C=CA2187901822MPIc.747C= (p.Ile249=)
c.564C= (p.Ile188=)
c.597C= (p.Ile199=)
c.687C= (p.Ile229=)
c.256-1311C= (n.256-1311C=)
c.414C= (p.Ile138=)
n.795C=
c.525C= (p.Ile175=)
c.735C= (p.Ile245=)
15g.74896228C>GCA393175923MPIc.747C>G (p.Ile249Met)
c.564C>G (p.Ile188Met)
c.597C>G (p.Ile199Met)
c.687C>G (p.Ile229Met)
c.256-1311C>G (n.256-1311C>G)
c.414C>G (p.Ile138Met)
n.795C>G
c.525C>G (p.Ile175Met)
c.735C>G (p.Ile245Met)
15g.74896228C>TCA7662535MPIc.747C>T (p.Ile249=)
c.564C>T (p.Ile188=)
c.597C>T (p.Ile199=)
c.687C>T (p.Ile229=)
c.256-1311C>T (n.256-1311C>T)
c.414C>T (p.Ile138=)
n.795C>T
c.525C>T (p.Ile175=)
c.735C>T (p.Ile245=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896229G>ACA7662536MPIc.748G>A (p.Gly250Ser)
c.565G>A (p.Gly189Ser)
c.598G>A (p.Gly200Ser)
c.688G>A (p.Gly230Ser)
c.256-1310G>A (n.256-1310G>A)
c.415G>A (p.Gly139Ser)
n.796G>A
c.526G>A (p.Gly176Ser)
c.736G>A (p.Gly246Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.74896229G>CCA393175924MPIc.748G>C (p.Gly250Arg)
c.565G>C (p.Gly189Arg)
c.598G>C (p.Gly200Arg)
c.688G>C (p.Gly230Arg)
c.256-1310G>C (n.256-1310G>C)
c.415G>C (p.Gly139Arg)
n.796G>C
c.526G>C (p.Gly176Arg)
c.736G>C (p.Gly246Arg)
dbSNP gnomAD v3 gnomAD v4
15g.74896229G=CA2187901825MPIc.748G= (p.Gly250=)
c.565G= (p.Gly189=)
c.598G= (p.Gly200=)
c.688G= (p.Gly230=)
c.256-1310G= (n.256-1310G=)
c.415G= (p.Gly139=)
n.796G=
c.526G= (p.Gly176=)
c.736G= (p.Gly246=)
15g.74896229G>TCA393175925MPIc.748G>T (p.Gly250Cys)
c.565G>T (p.Gly189Cys)
c.598G>T (p.Gly200Cys)
c.688G>T (p.Gly230Cys)
c.256-1310G>T (n.256-1310G>T)
c.415G>T (p.Gly139Cys)
n.796G>T
c.526G>T (p.Gly176Cys)
c.736G>T (p.Gly246Cys)
15g.74896230G>ACA393175927MPIc.749G>A (p.Gly250Asp)
c.566G>A (p.Gly189Asp)
c.599G>A (p.Gly200Asp)
c.689G>A (p.Gly230Asp)
c.256-1309G>A (n.256-1309G>A)
c.416G>A (p.Gly139Asp)
n.797G>A
c.527G>A (p.Gly176Asp)
c.737G>A (p.Gly246Asp)
dbSNP
15g.74896230G>CCA393175928MPIc.749G>C (p.Gly250Ala)
c.566G>C (p.Gly189Ala)
c.599G>C (p.Gly200Ala)
c.689G>C (p.Gly230Ala)
c.256-1309G>C (n.256-1309G>C)
c.416G>C (p.Gly139Ala)
n.797G>C
c.527G>C (p.Gly176Ala)
c.737G>C (p.Gly246Ala)
15g.74896230G=CA2187901829MPIc.749G= (p.Gly250=)
c.566G= (p.Gly189=)
c.599G= (p.Gly200=)
c.689G= (p.Gly230=)
c.256-1309G= (n.256-1309G=)
c.416G= (p.Gly139=)
n.797G=
c.527G= (p.Gly176=)
c.737G= (p.Gly246=)
15g.74896230G>TCA393175926MPIc.749G>T (p.Gly250Val)
c.566G>T (p.Gly189Val)
c.599G>T (p.Gly200Val)
c.689G>T (p.Gly230Val)
c.256-1309G>T (n.256-1309G>T)
c.416G>T (p.Gly139Val)
n.797G>T
c.527G>T (p.Gly176Val)
c.737G>T (p.Gly246Val)

Number of alleles fetched