Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.103100189C>ACA2626692148EXOC3L4c.-16-15C>A (n.-16-15C>A)
c.-31C>A (n.-31C>A)
c.159-15C>A (n.159-15C>A)
c.96-15C>A (n.96-15C>A)
n.714-15C>A
n.741-15C>A
 gnomAD v4
14g.103100189C>GCA2626692147EXOC3L4c.-16-15C>G (n.-16-15C>G)
c.-31C>G (n.-31C>G)
c.159-15C>G (n.159-15C>G)
c.96-15C>G (n.96-15C>G)
n.714-15C>G
n.741-15C>G
 gnomAD v4
14g.103100189C>TCA2626692146EXOC3L4c.-16-15C>T (n.-16-15C>T)
c.-31C>T (n.-31C>T)
c.159-15C>T (n.159-15C>T)
c.96-15C>T (n.96-15C>T)
n.714-15C>T
n.741-15C>T
 gnomAD v4
14g.103100190C>ACA2626692149EXOC3L4c.-16-14C>A (n.-16-14C>A)
c.-30C>A (n.-30C>A)
c.159-14C>A (n.159-14C>A)
c.96-14C>A (n.96-14C>A)
n.714-14C>A
n.741-14C>A
 gnomAD v4
14g.103100190C=CA2160139944EXOC3L4c.-16-14C= (n.-16-14C=)
c.-30C= (n.-30C=)
c.159-14C= (n.159-14C=)
c.96-14C= (n.96-14C=)
n.714-14C=
n.741-14C=
14g.103100190C>TCA7361778EXOC3L4c.-16-14C>T (n.-16-14C>T)
c.-30C>T (n.-30C>T)
c.159-14C>T (n.159-14C>T)
c.96-14C>T (n.96-14C>T)
n.714-14C>T
n.741-14C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100191T>CCA267170628EXOC3L4c.-16-13T>C (n.-16-13T>C)
c.-29T>C (n.-29T>C)
c.159-13T>C (n.159-13T>C)
c.96-13T>C (n.96-13T>C)
n.714-13T>C
n.741-13T>C
 dbSNP gnomAD v4
14g.103100191T=CA2160139945EXOC3L4c.-16-13T= (n.-16-13T=)
c.-29T= (n.-29T=)
c.159-13T= (n.159-13T=)
c.96-13T= (n.96-13T=)
n.714-13T=
n.741-13T=
14g.103100193C>ACA2626692150EXOC3L4c.-16-11C>A (n.-16-11C>A)
c.-27C>A (n.-27C>A)
c.159-11C>A (n.159-11C>A)
c.96-11C>A (n.96-11C>A)
n.714-11C>A
n.741-11C>A
 gnomAD v4
14g.103100193C>TCA2626692151EXOC3L4c.-16-11C>T (n.-16-11C>T)
c.-27C>T (n.-27C>T)
c.159-11C>T (n.159-11C>T)
c.96-11C>T (n.96-11C>T)
n.714-11C>T
n.741-11C>T
 gnomAD v4
14g.103100194T>ACA2626692152EXOC3L4c.-16-10T>A (n.-16-10T>A)
c.-26T>A (n.-26T>A)
c.159-10T>A (n.159-10T>A)
c.96-10T>A (n.96-10T>A)
n.714-10T>A
n.741-10T>A
 gnomAD v4
14g.103100194T>GCA7361779EXOC3L4c.-16-10T>G (n.-16-10T>G)
c.-26T>G (n.-26T>G)
c.159-10T>G (n.159-10T>G)
c.96-10T>G (n.96-10T>G)
n.714-10T>G
n.741-10T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100194T=CA2160139946EXOC3L4c.-16-10T= (n.-16-10T=)
c.-26T= (n.-26T=)
c.159-10T= (n.159-10T=)
c.96-10T= (n.96-10T=)
n.714-10T=
n.741-10T=
14g.103100195T>CCA2626692153EXOC3L4c.-16-9T>C (n.-16-9T>C)
c.-25T>C (n.-25T>C)
c.159-9T>C (n.159-9T>C)
c.96-9T>C (n.96-9T>C)
n.714-9T>C
n.741-9T>C
 gnomAD v4
14g.103100196G>ACA2160139948EXOC3L4c.-16-8G>A (n.-16-8G>A)
c.-24G>A (n.-24G>A)
c.159-8G>A (n.159-8G>A)
c.96-8G>A (n.96-8G>A)
n.714-8G>A
n.741-8G>A
 dbSNP gnomAD v4
14g.103100196G>CCA2626692154EXOC3L4c.-16-8G>C (n.-16-8G>C)
c.-24G>C (n.-24G>C)
c.159-8G>C (n.159-8G>C)
c.96-8G>C (n.96-8G>C)
n.714-8G>C
n.741-8G>C
 gnomAD v4
14g.103100196G=CA2160139947EXOC3L4c.-16-8G= (n.-16-8G=)
c.-24G= (n.-24G=)
c.159-8G= (n.159-8G=)
c.96-8G= (n.96-8G=)
n.714-8G=
n.741-8G=
14g.103100196G>TCA2626692155EXOC3L4c.-16-8G>T (n.-16-8G>T)
c.-24G>T (n.-24G>T)
c.159-8G>T (n.159-8G>T)
c.96-8G>T (n.96-8G>T)
n.714-8G>T
n.741-8G>T
 gnomAD v4
14g.103100197C>ACA2626692159EXOC3L4c.-16-7C>A (n.-16-7C>A)
c.-23C>A (n.-23C>A)
c.159-7C>A (n.159-7C>A)
c.96-7C>A (n.96-7C>A)
n.714-7C>A
n.741-7C>A
 gnomAD v4
14g.103100197C>GCA2626692157EXOC3L4c.-16-7C>G (n.-16-7C>G)
c.-23C>G (n.-23C>G)
c.159-7C>G (n.159-7C>G)
c.96-7C>G (n.96-7C>G)
n.714-7C>G
n.741-7C>G
 gnomAD v4
14g.103100197C>TCA2626692156EXOC3L4c.-16-7C>T (n.-16-7C>T)
c.-23C>T (n.-23C>T)
c.159-7C>T (n.159-7C>T)
c.96-7C>T (n.96-7C>T)
n.714-7C>T
n.741-7C>T
 gnomAD v4
14g.103100201dupCA2626692160EXOC3L4c.-16-3dup (n.-16-3dup)
c.-19dup (n.-19dup)
c.159-3dup (n.159-3dup)
c.96-3dup (n.96-3dup)
n.714-3dup
n.741-3dup
 gnomAD v4
14g.103100201delCA2626692158EXOC3L4c.-16-3del (n.-16-3del)
c.-19del (n.-19del)
c.159-3del (n.159-3del)
c.96-3del (n.96-3del)
n.714-3del
n.741-3del
 gnomAD v4
14g.103100198C>ACA2626692161EXOC3L4c.-16-6C>A (n.-16-6C>A)
c.-22C>A (n.-22C>A)
c.159-6C>A (n.159-6C>A)
c.96-6C>A (n.96-6C>A)
n.714-6C>A
n.741-6C>A
 gnomAD v4
14g.103100198C>TCA2626692162EXOC3L4c.-16-6C>T (n.-16-6C>T)
c.-22C>T (n.-22C>T)
c.159-6C>T (n.159-6C>T)
c.96-6C>T (n.96-6C>T)
n.714-6C>T
n.741-6C>T
 gnomAD v4
14g.103100199C>ACA2626692163EXOC3L4c.-16-5C>A (n.-16-5C>A)
c.-21C>A (n.-21C>A)
c.159-5C>A (n.159-5C>A)
c.96-5C>A (n.96-5C>A)
n.714-5C>A
n.741-5C>A
 gnomAD v4
14g.103100199C>GCA2626692164EXOC3L4c.-16-5C>G (n.-16-5C>G)
c.-21C>G (n.-21C>G)
c.159-5C>G (n.159-5C>G)
c.96-5C>G (n.96-5C>G)
n.714-5C>G
n.741-5C>G
 gnomAD v4
14g.103100199C>TCA2626692165EXOC3L4c.-16-5C>T (n.-16-5C>T)
c.-21C>T (n.-21C>T)
c.159-5C>T (n.159-5C>T)
c.96-5C>T (n.96-5C>T)
n.714-5C>T
n.741-5C>T
 gnomAD v4
14g.103100200C>ACA2626692166EXOC3L4c.-16-4C>A (n.-16-4C>A)
c.-20C>A (n.-20C>A)
c.159-4C>A (n.159-4C>A)
c.96-4C>A (n.96-4C>A)
n.714-4C>A
n.741-4C>A
 gnomAD v4
14g.103100200C>TCA2626692167EXOC3L4c.-16-4C>T (n.-16-4C>T)
c.-20C>T (n.-20C>T)
c.159-4C>T (n.159-4C>T)
c.96-4C>T (n.96-4C>T)
n.714-4C>T
n.741-4C>T
 gnomAD v4
14g.103100201C>ACA2626692168EXOC3L4c.-16-3C>A (n.-16-3C>A)
c.-19C>A (n.-19C>A)
c.159-3C>A (n.159-3C>A)
c.96-3C>A (n.96-3C>A)
n.714-3C>A
n.741-3C>A
 gnomAD v4
14g.103100201C>TCA2626692169EXOC3L4c.-16-3C>T (n.-16-3C>T)
c.-19C>T (n.-19C>T)
c.159-3C>T (n.159-3C>T)
c.96-3C>T (n.96-3C>T)
n.714-3C>T
n.741-3C>T
 gnomAD v4
14g.103100203G>ACA616582140EXOC3L4c.-16-1G>A (n.-16-1G>A)
c.-17G>A (n.-17G>A)
c.159-1G>A (n.159-1G>A)
c.96-1G>A (n.96-1G>A)
n.714-1G>A
n.741-1G>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100203G=CA2160139949EXOC3L4c.-16-1G= (n.-16-1G=)
c.-17G= (n.-17G=)
c.159-1G= (n.159-1G=)
c.96-1G= (n.96-1G=)
n.714-1G=
n.741-1G=
14g.103100203G>TCA2626692171EXOC3L4c.-16-1G>T (n.-16-1G>T)
c.-17G>T (n.-17G>T)
c.159-1G>T (n.159-1G>T)
c.96-1G>T (n.96-1G>T)
n.714-1G>T
n.741-1G>T
 gnomAD v4
14g.103100204C>ACA2626692172EXOC3L4c.-16C>A (n.-16C>A)
c.159C>A (p.Gly53=)
c.96C>A (p.Ser32Arg)
n.714C>A
n.741C>A
 gnomAD v4
14g.103100204C>TCA2626692173EXOC3L4c.-16C>T (n.-16C>T)
c.159C>T (p.Gly53=)
c.96C>T (p.Ser32=)
n.714C>T
n.741C>T
 gnomAD v4
14g.103100205T>GCA2160139951EXOC3L4c.-15T>G (n.-15T>G)
c.160T>G (p.Ser54Ala)
c.97T>G (p.Ser33Ala)
n.715T>G
n.742T>G
 dbSNP
14g.103100205T=CA2160139950EXOC3L4c.-15T= (n.-15T=)
c.160T= (p.Ser54=)
c.97T= (p.Ser33=)
n.715T=
n.742T=
14g.103100206C>ACA2626692174EXOC3L4c.-14C>A (n.-14C>A)
c.161C>A (p.Ser54Tyr)
c.98C>A (p.Ser33Tyr)
n.716C>A
n.743C>A
 gnomAD v4
14g.103100206C=CA2160139952EXOC3L4c.-14C= (n.-14C=)
c.161C= (p.Ser54=)
c.98C= (p.Ser33=)
n.716C=
n.743C=
14g.103100206C>TCA7361780EXOC3L4c.-14C>T (n.-14C>T)
c.161C>T (p.Ser54Phe)
c.98C>T (p.Ser33Phe)
n.716C>T
n.743C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100207T>CCA2626692175EXOC3L4c.-13T>C (n.-13T>C)
c.162T>C (p.Ser54=)
c.99T>C (p.Ser33=)
n.717T>C
n.744T>C
 gnomAD v4
14g.103100208C>ACA2626692176EXOC3L4c.-12C>A (n.-12C>A)
c.163C>A (p.Pro55Thr)
c.100C>A (p.Pro34Thr)
n.718C>A
n.745C>A
 gnomAD v4
14g.103100208C=CA2160139953EXOC3L4c.-12C= (n.-12C=)
c.163C= (p.Pro55=)
c.100C= (p.Pro34=)
n.718C=
n.745C=
14g.103100208C>TCA267170629EXOC3L4c.-12C>T (n.-12C>T)
c.163C>T (p.Pro55Ser)
c.100C>T (p.Pro34Ser)
n.718C>T
n.745C>T
 dbSNP gnomAD v3 gnomAD v4
14g.103100209C>ACA2626692177EXOC3L4c.-11C>A (n.-11C>A)
c.164C>A (p.Pro55His)
c.101C>A (p.Pro34His)
n.719C>A
n.746C>A
 gnomAD v4
14g.103100209C=CA2160139954EXOC3L4c.-11C= (n.-11C=)
c.164C= (p.Pro55=)
c.101C= (p.Pro34=)
n.719C=
n.746C=
14g.103100209C>TCA7361781EXOC3L4c.-11C>T (n.-11C>T)
c.164C>T (p.Pro55Leu)
c.101C>T (p.Pro34Leu)
n.719C>T
n.746C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100210T>ACA7361782EXOC3L4c.-10T>A (n.-10T>A)
c.165T>A (p.Pro55=)
c.102T>A (p.Pro34=)
n.720T>A
n.747T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100210T>CCA2626692178EXOC3L4c.-10T>C (n.-10T>C)
c.165T>C (p.Pro55=)
c.102T>C (p.Pro34=)
n.720T>C
n.747T>C
 gnomAD v4
14g.103100210T=CA2160139955EXOC3L4c.-10T= (n.-10T=)
c.165T= (p.Pro55=)
c.102T= (p.Pro34=)
n.720T=
n.747T=
14g.103100211G>ACA2626692179EXOC3L4c.-9G>A (n.-9G>A)
c.166G>A (p.Ala56Thr)
c.103G>A (p.Ala35Thr)
n.721G>A
n.748G>A
 gnomAD v4
14g.103100211G>TCA2626692180EXOC3L4c.-9G>T (n.-9G>T)
c.166G>T (p.Ala56Ser)
c.103G>T (p.Ala35Ser)
n.721G>T
n.748G>T
 gnomAD v4
14g.103100212C>ACA2626692181EXOC3L4c.-8C>A (n.-8C>A)
c.167C>A (p.Ala56Asp)
c.104C>A (p.Ala35Asp)
n.722C>A
n.749C>A
 gnomAD v4
14g.103100212C=CA2160139957EXOC3L4c.-8C= (n.-8C=)
c.167C= (p.Ala56=)
c.104C= (p.Ala35=)
n.722C=
n.749C=
14g.103100212C>TCA2160139956EXOC3L4c.-8C>T (n.-8C>T)
c.167C>T (p.Ala56Val)
c.104C>T (p.Ala35Val)
n.722C>T
n.749C>T
 dbSNP gnomAD v4
14g.103100213T>CCA2626692182EXOC3L4c.-7T>C (n.-7T>C)
c.168T>C (p.Ala56=)
c.105T>C (p.Ala35=)
n.723T>C
n.750T>C
 gnomAD v4
14g.103100214G>ACA2626692183EXOC3L4c.-6G>A (n.-6G>A)
c.169G>A (p.Ala57Thr)
c.106G>A (p.Ala36Thr)
n.724G>A
n.751G>A
 gnomAD v4
14g.103100214G>TCA2626692184EXOC3L4c.-6G>T (n.-6G>T)
c.169G>T (p.Ala57Ser)
c.106G>T (p.Ala36Ser)
n.724G>T
n.751G>T
 gnomAD v4
14g.103100215C>ACA2626692185EXOC3L4c.-5C>A (n.-5C>A)
c.170C>A (p.Ala57Asp)
c.107C>A (p.Ala36Asp)
n.725C>A
n.752C>A
 gnomAD v4
14g.103100215C=CA2160139958EXOC3L4c.-5C= (n.-5C=)
c.170C= (p.Ala57=)
c.107C= (p.Ala36=)
n.725C=
n.752C=
14g.103100215C>TCA7361783EXOC3L4c.-5C>T (n.-5C>T)
c.170C>T (p.Ala57Val)
c.107C>T (p.Ala36Val)
n.725C>T
n.752C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100216C>ACA616582141EXOC3L4c.-4C>A (n.-4C>A)
c.171C>A (p.Ala57=)
c.108C>A (p.Ala36=)
n.726C>A
n.753C>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100216C=CA2160139959EXOC3L4c.-4C= (n.-4C=)
c.171C= (p.Ala57=)
c.108C= (p.Ala36=)
n.726C=
n.753C=
14g.103100216C>TCA2626692186EXOC3L4c.-4C>T (n.-4C>T)
c.171C>T (p.Ala57=)
c.108C>T (p.Ala36=)
n.726C>T
n.753C>T
 gnomAD v4
14g.103100217A>GCA2626692187EXOC3L4c.-3A>G (n.-3A>G)
c.172A>G (p.Lys58Glu)
c.109A>G (p.Lys37Glu)
n.727A>G
n.754A>G
 gnomAD v4
14g.103100218A=CA2160139960EXOC3L4c.-2A= (n.-2A=)
c.173A= (p.Lys58=)
c.110A= (p.Lys37=)
n.728A=
n.755A=
14g.103100218A>CCA2510912408EXOC3L4c.-2A>C (n.-2A>C)
c.173A>C (p.Lys58Thr)
c.110A>C (p.Lys37Thr)
n.728A>C
n.755A>C
14g.103100218A>GCA616582142EXOC3L4c.-2A>G (n.-2A>G)
c.173A>G (p.Lys58Arg)
c.110A>G (p.Lys37Arg)
n.728A>G
n.755A>G
 dbSNP gnomAD v2
14g.103100219G>ACA2626692188EXOC3L4c.-1G>A (n.-1G>A)
c.174G>A (p.Lys58=)
c.111G>A (p.Lys37=)
n.729G>A
n.756G>A
 gnomAD v4
14g.103100220A=CA2160139961EXOC3L4c.1A= (p.Met1=)
c.175A= (p.Met59=)
c.112A= (p.Met38=)
n.730A=
n.757A=
14g.103100220A>CCA391080793EXOC3L4c.1A>C (p.Met1Leu)
c.175A>C (p.Met59Leu)
c.112A>C (p.Met38Leu)
n.730A>C
n.757A>C
 dbSNP
14g.103100220A>GCA391080794EXOC3L4c.1A>G (p.Met1Val)
c.175A>G (p.Met59Val)
c.112A>G (p.Met38Val)
n.730A>G
n.757A>G
 gnomAD v4
14g.103100220A>TCA391080795EXOC3L4c.1A>T (p.Met1Leu)
c.175A>T (p.Met59Leu)
c.112A>T (p.Met38Leu)
n.730A>T
n.757A>T
14g.103100221T>ACA391080796EXOC3L4c.2T>A (p.Met1Lys)
c.176T>A (p.Met59Lys)
c.113T>A (p.Met38Lys)
n.731T>A
n.758T>A
14g.103100221T>CCA391080797EXOC3L4c.2T>C (p.Met1Thr)
c.176T>C (p.Met59Thr)
c.113T>C (p.Met38Thr)
n.731T>C
n.758T>C
14g.103100221T>GCA391080798EXOC3L4c.2T>G (p.Met1Arg)
c.176T>G (p.Met59Arg)
c.113T>G (p.Met38Arg)
n.731T>G
n.758T>G
14g.103100222G>ACA391080799EXOC3L4c.3G>A (p.Met1Ile)
c.177G>A (p.Met59Ile)
c.114G>A (p.Met38Ile)
n.732G>A
n.759G>A
 dbSNP gnomAD v4
14g.103100222G>CCA391080800EXOC3L4c.3G>C (p.Met1Ile)
c.177G>C (p.Met59Ile)
c.114G>C (p.Met38Ile)
n.732G>C
n.759G>C
14g.103100222G=CA2160139962EXOC3L4c.3G= (p.Met1=)
c.177G= (p.Met59=)
c.114G= (p.Met38=)
n.732G=
n.759G=
14g.103100222G>TCA391080801EXOC3L4c.3G>T (p.Met1Ile)
c.177G>T (p.Met59Ile)
c.114G>T (p.Met38Ile)
n.732G>T
n.759G>T
 gnomAD v4
14g.103100223C>ACA391080802EXOC3L4c.4C>A (p.Pro2Thr)
c.178C>A (p.Pro60Thr)
c.115C>A (p.Pro39Thr)
n.733C>A
n.760C>A
 gnomAD v4
14g.103100223C=CA2160139963EXOC3L4c.4C= (p.Pro2=)
c.178C= (p.Pro60=)
c.115C= (p.Pro39=)
n.733C=
n.760C=
14g.103100223C>GCA391080803EXOC3L4c.4C>G (p.Pro2Ala)
c.178C>G (p.Pro60Ala)
c.115C>G (p.Pro39Ala)
n.733C>G
n.760C>G
 gnomAD v4
14g.103100223C>TCA267170653EXOC3L4c.4C>T (p.Pro2Ser)
c.178C>T (p.Pro60Ser)
c.115C>T (p.Pro39Ser)
n.733C>T
n.760C>T
 dbSNP gnomAD v4
14g.103100224C>ACA391080806EXOC3L4c.5C>A (p.Pro2Gln)
c.179C>A (p.Pro60Gln)
c.116C>A (p.Pro39Gln)
n.734C>A
n.761C>A
 gnomAD v4
14g.103100224C>GCA391080804EXOC3L4c.5C>G (p.Pro2Arg)
c.179C>G (p.Pro60Arg)
c.116C>G (p.Pro39Arg)
n.734C>G
n.761C>G
 gnomAD v4
14g.103100224C>TCA391080805EXOC3L4c.5C>T (p.Pro2Leu)
c.179C>T (p.Pro60Leu)
c.116C>T (p.Pro39Leu)
n.734C>T
n.761C>T
 gnomAD v4
14g.103100225A>CCA488193548EXOC3L4c.6A>C (p.Pro2=)
c.180A>C (p.Pro60=)
c.117A>C (p.Pro39=)
n.735A>C
n.762A>C
14g.103100225A>GCA488193549EXOC3L4c.6A>G (p.Pro2=)
c.180A>G (p.Pro60=)
c.117A>G (p.Pro39=)
n.735A>G
n.762A>G
 gnomAD v4
14g.103100225A>TCA488193550EXOC3L4c.6A>T (p.Pro2=)
c.180A>T (p.Pro60=)
c.117A>T (p.Pro39=)
n.735A>T
n.762A>T
14g.103100226T>ACA391080807EXOC3L4c.7T>A (p.Ser3Thr)
c.181T>A (p.Ser61Thr)
c.118T>A (p.Ser40Thr)
n.736T>A
n.763T>A
14g.103100226T>CCA7361784EXOC3L4c.7T>C (p.Ser3Pro)
c.181T>C (p.Ser61Pro)
c.118T>C (p.Ser40Pro)
n.736T>C
n.763T>C
 dbSNP ExAC
14g.103100226T>GCA391080808EXOC3L4c.7T>G (p.Ser3Ala)
c.181T>G (p.Ser61Ala)
c.118T>G (p.Ser40Ala)
n.736T>G
n.763T>G
14g.103100226T=CA2160139964EXOC3L4c.7T= (p.Ser3=)
c.181T= (p.Ser61=)
c.118T= (p.Ser40=)
n.736T=
n.763T=
14g.103100227C>ACA391080809EXOC3L4c.8C>A (p.Ser3Ter)
c.182C>A (p.Ser61Ter)
c.119C>A (p.Ser40Ter)
n.737C>A
n.764C>A
 gnomAD v4
14g.103100227C=CA2160139965EXOC3L4c.8C= (p.Ser3=)
c.182C= (p.Ser61=)
c.119C= (p.Ser40=)
n.737C=
n.764C=
14g.103100227C>GCA391080810EXOC3L4c.8C>G (p.Ser3Ter)
c.182C>G (p.Ser61Ter)
c.119C>G (p.Ser40Ter)
n.737C>G
n.764C>G
14g.103100227C>TCA391080811EXOC3L4c.8C>T (p.Ser3Leu)
c.182C>T (p.Ser61Leu)
c.119C>T (p.Ser40Leu)
n.737C>T
n.764C>T
 dbSNP gnomAD v3 gnomAD v4
14g.103100228A>CCA488193555EXOC3L4c.9A>C (p.Ser3=)
c.183A>C (p.Ser61=)
c.120A>C (p.Ser40=)
n.738A>C
n.765A>C
14g.103100228A>GCA488193556EXOC3L4c.9A>G (p.Ser3=)
c.183A>G (p.Ser61=)
c.120A>G (p.Ser40=)
n.738A>G
n.765A>G
 gnomAD v4
14g.103100228A>TCA488193557EXOC3L4c.9A>T (p.Ser3=)
c.183A>T (p.Ser61=)
c.120A>T (p.Ser40=)
n.738A>T
n.765A>T
14g.103100229C>ACA391080813EXOC3L4c.10C>A (p.Pro4Thr)
c.184C>A (p.Pro62Thr)
c.121C>A (p.Pro41Thr)
n.739C>A
n.766C>A
 gnomAD v4
14g.103100229C=CA2160139966EXOC3L4c.10C= (p.Pro4=)
c.184C= (p.Pro62=)
c.121C= (p.Pro41=)
n.739C=
n.766C=
14g.103100229C>GCA391080812EXOC3L4c.10C>G (p.Pro4Ala)
c.184C>G (p.Pro62Ala)
c.121C>G (p.Pro41Ala)
n.739C>G
n.766C>G
14g.103100229C>TCA7361785EXOC3L4c.10C>T (p.Pro4Ser)
c.184C>T (p.Pro62Ser)
c.121C>T (p.Pro41Ser)
n.739C>T
n.766C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100230C>ACA391080814EXOC3L4c.11C>A (p.Pro4Gln)
c.185C>A (p.Pro62Gln)
c.122C>A (p.Pro41Gln)
n.740C>A
n.767C>A
 gnomAD v4
14g.103100230C>GCA391080815EXOC3L4c.11C>G (p.Pro4Arg)
c.185C>G (p.Pro62Arg)
c.122C>G (p.Pro41Arg)
n.740C>G
n.767C>G
14g.103100230C>TCA391080816EXOC3L4c.11C>T (p.Pro4Leu)
c.185C>T (p.Pro62Leu)
c.122C>T (p.Pro41Leu)
n.740C>T
n.767C>T
 gnomAD v4
14g.103100230_103100234delinsCACAGCA2160139967EXOC3L4c.11_15delinsCACAG (p.Pro4=)
c.185_189delinsCACAG (p.Pro62=)
c.122_126delinsCACAG (p.Pro41=)
n.740_744delinsCACAG
n.767_771delinsCACAG
14g.103100231A>CCA488193559EXOC3L4c.12A>C (p.Pro4=)
c.186A>C (p.Pro62=)
c.123A>C (p.Pro41=)
n.741A>C
n.768A>C
14g.103100231A>GCA488193561EXOC3L4c.12A>G (p.Pro4=)
c.186A>G (p.Pro62=)
c.123A>G (p.Pro41=)
n.741A>G
n.768A>G
14g.103100231A>TCA488193560EXOC3L4c.12A>T (p.Pro4=)
c.186A>T (p.Pro62=)
c.123A>T (p.Pro41=)
n.741A>T
n.768A>T
14g.103100238_103100241dupCA2626692189EXOC3L4c.19_22dup (p.Thr8ArgfsTer14)
c.193_196dup (p.Thr66ArgfsTer14)
c.130_133dup (p.Thr45ArgfsTer14)
n.748_751dup
n.775_778dup
 gnomAD v4
14g.103100238_103100241delCA2160139968EXOC3L4c.19_22del (p.Asp7LeufsTer?)
c.193_196del (p.Asp65LeufsTer?)
c.130_133del (p.Asp44LeufsTer?)
n.748_751del
n.775_778del
 dbSNP gnomAD v4
14g.103100232C>ACA391080817EXOC3L4c.13C>A (p.Gln5Lys)
c.187C>A (p.Gln63Lys)
c.124C>A (p.Gln42Lys)
n.742C>A
n.769C>A
 gnomAD v4
14g.103100232C=CA2160139969EXOC3L4c.13C= (p.Gln5=)
c.187C= (p.Gln63=)
c.124C= (p.Gln42=)
n.742C=
n.769C=
14g.103100232C>GCA391080818EXOC3L4c.13C>G (p.Gln5Glu)
c.187C>G (p.Gln63Glu)
c.124C>G (p.Gln42Glu)
n.742C>G
n.769C>G
 COSMIC
14g.103100232C>TCA391080819EXOC3L4c.13C>T (p.Gln5Ter)
c.187C>T (p.Gln63Ter)
c.124C>T (p.Gln42Ter)
n.742C>T
n.769C>T
 dbSNP gnomAD v2
14g.103100233A>CCA391080820EXOC3L4c.14A>C (p.Gln5Pro)
c.188A>C (p.Gln63Pro)
c.125A>C (p.Gln42Pro)
n.743A>C
n.770A>C
14g.103100233A>GCA391080822EXOC3L4c.14A>G (p.Gln5Arg)
c.188A>G (p.Gln63Arg)
c.125A>G (p.Gln42Arg)
n.743A>G
n.770A>G
14g.103100233A>TCA391080821EXOC3L4c.14A>T (p.Gln5Leu)
c.188A>T (p.Gln63Leu)
c.125A>T (p.Gln42Leu)
n.743A>T
n.770A>T
 gnomAD v4
14g.103100234G>ACA488193565EXOC3L4c.15G>A (p.Gln5=)
c.189G>A (p.Gln63=)
c.126G>A (p.Gln42=)
n.744G>A
n.771G>A
 dbSNP gnomAD v4
14g.103100234G>CCA391080823EXOC3L4c.15G>C (p.Gln5His)
c.189G>C (p.Gln63His)
c.126G>C (p.Gln42His)
n.744G>C
n.771G>C
14g.103100234G=CA2160139970EXOC3L4c.15G= (p.Gln5=)
c.189G= (p.Gln63=)
c.126G= (p.Gln42=)
n.744G=
n.771G=
14g.103100234G>TCA391080824EXOC3L4c.15G>T (p.Gln5His)
c.189G>T (p.Gln63His)
c.126G>T (p.Gln42His)
n.744G>T
n.771G>T
 gnomAD v4
14g.103100235A>CCA391080825EXOC3L4c.16A>C (p.Thr6Pro)
c.190A>C (p.Thr64Pro)
c.127A>C (p.Thr43Pro)
n.745A>C
n.772A>C
14g.103100235A>GCA391080826EXOC3L4c.16A>G (p.Thr6Ala)
c.190A>G (p.Thr64Ala)
c.127A>G (p.Thr43Ala)
n.745A>G
n.772A>G
 gnomAD v4
14g.103100235A>TCA391080827EXOC3L4c.16A>T (p.Thr6Ser)
c.190A>T (p.Thr64Ser)
c.127A>T (p.Thr43Ser)
n.745A>T
n.772A>T
14g.103100236C>ACA391080828EXOC3L4c.17C>A (p.Thr6Lys)
c.191C>A (p.Thr64Lys)
c.128C>A (p.Thr43Lys)
n.746C>A
n.773C>A
 gnomAD v4
14g.103100236C=CA2160139971EXOC3L4c.17C= (p.Thr6=)
c.191C= (p.Thr64=)
c.128C= (p.Thr43=)
n.746C=
n.773C=
14g.103100236C>GCA391080829EXOC3L4c.17C>G (p.Thr6Arg)
c.191C>G (p.Thr64Arg)
c.128C>G (p.Thr43Arg)
n.746C>G
n.773C>G
 dbSNP gnomAD v4
14g.103100236C>TCA391080830EXOC3L4c.17C>T (p.Thr6Ile)
c.191C>T (p.Thr64Ile)
c.128C>T (p.Thr43Ile)
n.746C>T
n.773C>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100237A>CCA488193570EXOC3L4c.18A>C (p.Thr6=)
c.192A>C (p.Thr64=)
c.129A>C (p.Thr43=)
n.747A>C
n.774A>C
 gnomAD v4
14g.103100237A>GCA488193572EXOC3L4c.18A>G (p.Thr6=)
c.192A>G (p.Thr64=)
c.129A>G (p.Thr43=)
n.747A>G
n.774A>G
 gnomAD v4
14g.103100237A>TCA488193573EXOC3L4c.18A>T (p.Thr6=)
c.192A>T (p.Thr64=)
c.129A>T (p.Thr43=)
n.747A>T
n.774A>T
14g.103100238G>ACA391080831EXOC3L4c.19G>A (p.Asp7Asn)
c.193G>A (p.Asp65Asn)
c.130G>A (p.Asp44Asn)
n.748G>A
n.775G>A
14g.103100238G>CCA391080832EXOC3L4c.19G>C (p.Asp7His)
c.193G>C (p.Asp65His)
c.130G>C (p.Asp44His)
n.748G>C
n.775G>C
 gnomAD v4
14g.103100238G>TCA391080833EXOC3L4c.19G>T (p.Asp7Tyr)
c.193G>T (p.Asp65Tyr)
c.130G>T (p.Asp44Tyr)
n.748G>T
n.775G>T
14g.103100239A>CCA391080836EXOC3L4c.20A>C (p.Asp7Ala)
c.194A>C (p.Asp65Ala)
c.131A>C (p.Asp44Ala)
n.749A>C
n.776A>C
14g.103100239A>GCA391080834EXOC3L4c.20A>G (p.Asp7Gly)
c.194A>G (p.Asp65Gly)
c.131A>G (p.Asp44Gly)
n.749A>G
n.776A>G
14g.103100239A>TCA391080835EXOC3L4c.20A>T (p.Asp7Val)
c.194A>T (p.Asp65Val)
c.131A>T (p.Asp44Val)
n.749A>T
n.776A>T
14g.103100240C>ACA391080837EXOC3L4c.21C>A (p.Asp7Glu)
c.195C>A (p.Asp65Glu)
c.132C>A (p.Asp44Glu)
n.750C>A
n.777C>A
 gnomAD v4
14g.103100240C=CA2160139972EXOC3L4c.21C= (p.Asp7=)
c.195C= (p.Asp65=)
c.132C= (p.Asp44=)
n.750C=
n.777C=
14g.103100240C>GCA391080838EXOC3L4c.21C>G (p.Asp7Glu)
c.195C>G (p.Asp65Glu)
c.132C>G (p.Asp44Glu)
n.750C>G
n.777C>G
14g.103100240C>TCA488193578EXOC3L4c.21C>T (p.Asp7=)
c.195C>T (p.Asp65=)
c.132C>T (p.Asp44=)
n.750C>T
n.777C>T
 dbSNP gnomAD v4
14g.103100241A=CA2160139973EXOC3L4c.22A= (p.Thr8=)
c.196A= (p.Thr66=)
c.133A= (p.Thr45=)
n.751A=
n.778A=
14g.103100241A>CCA391080839EXOC3L4c.22A>C (p.Thr8Pro)
c.196A>C (p.Thr66Pro)
c.133A>C (p.Thr45Pro)
n.751A>C
n.778A>C
 gnomAD v4
14g.103100241A>GCA391080840EXOC3L4c.22A>G (p.Thr8Ala)
c.196A>G (p.Thr66Ala)
c.133A>G (p.Thr45Ala)
n.751A>G
n.778A>G
14g.103100241A>TCA391080841EXOC3L4c.22A>T (p.Thr8Ser)
c.196A>T (p.Thr66Ser)
c.133A>T (p.Thr45Ser)
n.751A>T
n.778A>T
 dbSNP
14g.103100242C>ACA391080842EXOC3L4c.23C>A (p.Thr8Asn)
c.197C>A (p.Thr66Asn)
c.134C>A (p.Thr45Asn)
n.752C>A
n.779C>A
 gnomAD v4
14g.103100242C=CA2160139974EXOC3L4c.23C= (p.Thr8=)
c.197C= (p.Thr66=)
c.134C= (p.Thr45=)
n.752C=
n.779C=
14g.103100242C>GCA391080843EXOC3L4c.23C>G (p.Thr8Ser)
c.197C>G (p.Thr66Ser)
c.134C>G (p.Thr45Ser)
n.752C>G
n.779C>G
14g.103100242C>TCA7361786EXOC3L4c.23C>T (p.Thr8Ile)
c.197C>T (p.Thr66Ile)
c.134C>T (p.Thr45Ile)
n.752C>T
n.779C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100243T>ACA488193585EXOC3L4c.24T>A (p.Thr8=)
c.198T>A (p.Thr66=)
c.135T>A (p.Thr45=)
n.753T>A
n.780T>A
14g.103100243T>CCA7361787EXOC3L4c.24T>C (p.Thr8=)
c.198T>C (p.Thr66=)
c.135T>C (p.Thr45=)
n.753T>C
n.780T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100243T>GCA488193587EXOC3L4c.24T>G (p.Thr8=)
c.198T>G (p.Thr66=)
c.135T>G (p.Thr45=)
n.753T>G
n.780T>G
14g.103100243T=CA2160139975EXOC3L4c.24T= (p.Thr8=)
c.198T= (p.Thr66=)
c.135T= (p.Thr45=)
n.753T=
n.780T=
14g.103100244C>ACA267170668EXOC3L4c.25C>A (p.Pro9Thr)
c.199C>A (p.Pro67Thr)
c.136C>A (p.Pro46Thr)
n.754C>A
n.781C>A
 dbSNP gnomAD v4
14g.103100244C=CA2160139976EXOC3L4c.25C= (p.Pro9=)
c.199C= (p.Pro67=)
c.136C= (p.Pro46=)
n.754C=
n.781C=
14g.103100244C>GCA391080844EXOC3L4c.25C>G (p.Pro9Ala)
c.199C>G (p.Pro67Ala)
c.136C>G (p.Pro46Ala)
n.754C>G
n.781C>G
14g.103100244C>TCA267170670EXOC3L4c.25C>T (p.Pro9Ser)
c.199C>T (p.Pro67Ser)
c.136C>T (p.Pro46Ser)
n.754C>T
n.781C>T
 dbSNP gnomAD v2
14g.103100245C>ACA391080845EXOC3L4c.26C>A (p.Pro9His)
c.200C>A (p.Pro67His)
c.137C>A (p.Pro46His)
n.755C>A
n.782C>A
 gnomAD v4
14g.103100245C>GCA391080846EXOC3L4c.26C>G (p.Pro9Arg)
c.200C>G (p.Pro67Arg)
c.137C>G (p.Pro46Arg)
n.755C>G
n.782C>G
14g.103100245C>TCA391080847EXOC3L4c.26C>T (p.Pro9Leu)
c.200C>T (p.Pro67Leu)
c.137C>T (p.Pro46Leu)
n.755C>T
n.782C>T
 gnomAD v4
14g.103100246T>ACA488193592EXOC3L4c.27T>A (p.Pro9=)
c.201T>A (p.Pro67=)
c.138T>A (p.Pro46=)
n.756T>A
n.783T>A
14g.103100246T>CCA7361788EXOC3L4c.27T>C (p.Pro9=)
c.201T>C (p.Pro67=)
c.138T>C (p.Pro46=)
n.756T>C
n.783T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100246T>GCA488193594EXOC3L4c.27T>G (p.Pro9=)
c.201T>G (p.Pro67=)
c.138T>G (p.Pro46=)
n.756T>G
n.783T>G
14g.103100246T=CA2160139977EXOC3L4c.27T= (p.Pro9=)
c.201T= (p.Pro67=)
c.138T= (p.Pro46=)
n.756T=
n.783T=
14g.103100247G>ACA391080848EXOC3L4c.28G>A (p.Gly10Arg)
c.202G>A (p.Gly68Arg)
c.139G>A (p.Gly47Arg)
n.757G>A
n.784G>A
 gnomAD v4
14g.103100247G>CCA391080849EXOC3L4c.28G>C (p.Gly10Arg)
c.202G>C (p.Gly68Arg)
c.139G>C (p.Gly47Arg)
n.757G>C
n.784G>C
14g.103100247G=CA2160139978EXOC3L4c.28G= (p.Gly10=)
c.202G= (p.Gly68=)
c.139G= (p.Gly47=)
n.757G=
n.784G=
14g.103100247G>TCA7361789EXOC3L4c.28G>T (p.Gly10Trp)
c.202G>T (p.Gly68Trp)
c.139G>T (p.Gly47Trp)
n.757G>T
n.784G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100249delCA2626692192EXOC3L4c.30del (p.Pro11ArgfsTer?)
c.204del (p.Pro69ArgfsTer?)
c.141del (p.Pro48ArgfsTer?)
n.759del
n.786del
 gnomAD v4
14g.103100248G>ACA391080850EXOC3L4c.29G>A (p.Gly10Glu)
c.203G>A (p.Gly68Glu)
c.140G>A (p.Gly47Glu)
n.758G>A
n.785G>A
14g.103100248G>CCA391080851EXOC3L4c.29G>C (p.Gly10Ala)
c.203G>C (p.Gly68Ala)
c.140G>C (p.Gly47Ala)
n.758G>C
n.785G>C
14g.103100248G>TCA391080852EXOC3L4c.29G>T (p.Gly10Val)
c.203G>T (p.Gly68Val)
c.140G>T (p.Gly47Val)
n.758G>T
n.785G>T
 gnomAD v4
14g.103100249G>ACA488193600EXOC3L4c.30G>A (p.Gly10=)
c.204G>A (p.Gly68=)
c.141G>A (p.Gly47=)
n.759G>A
n.786G>A
 gnomAD v4
14g.103100249G>CCA488193602EXOC3L4c.30G>C (p.Gly10=)
c.204G>C (p.Gly68=)
c.141G>C (p.Gly47=)
n.759G>C
n.786G>C
14g.103100249G>TCA488193603EXOC3L4c.30G>T (p.Gly10=)
c.204G>T (p.Gly68=)
c.141G>T (p.Gly47=)
n.759G>T
n.786G>T
 gnomAD v4
14g.103100250C>ACA391080853EXOC3L4c.31C>A (p.Pro11Thr)
c.205C>A (p.Pro69Thr)
c.142C>A (p.Pro48Thr)
n.760C>A
n.787C>A
 gnomAD v4
14g.103100250C=CA2160139979EXOC3L4c.31C= (p.Pro11=)
c.205C= (p.Pro69=)
c.142C= (p.Pro48=)
n.760C=
n.787C=
14g.103100250C>GCA391080854EXOC3L4c.31C>G (p.Pro11Ala)
c.205C>G (p.Pro69Ala)
c.142C>G (p.Pro48Ala)
n.760C>G
n.787C>G
14g.103100250C>TCA7361790EXOC3L4c.31C>T (p.Pro11Ser)
c.205C>T (p.Pro69Ser)
c.142C>T (p.Pro48Ser)
n.760C>T
n.787C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100251C>ACA391080855EXOC3L4c.32C>A (p.Pro11Gln)
c.206C>A (p.Pro69Gln)
c.143C>A (p.Pro48Gln)
n.761C>A
n.788C>A
 gnomAD v4
14g.103100251C=CA2160139980EXOC3L4c.32C= (p.Pro11=)
c.206C= (p.Pro69=)
c.143C= (p.Pro48=)
n.761C=
n.788C=
14g.103100251C>GCA7361791EXOC3L4c.32C>G (p.Pro11Arg)
c.206C>G (p.Pro69Arg)
c.143C>G (p.Pro48Arg)
n.761C>G
n.788C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100251C>TCA7361792EXOC3L4c.32C>T (p.Pro11Leu)
c.206C>T (p.Pro69Leu)
c.143C>T (p.Pro48Leu)
n.761C>T
n.788C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100252G>ACA7361793EXOC3L4c.33G>A (p.Pro11=)
c.207G>A (p.Pro69=)
c.144G>A (p.Pro48=)
n.762G>A
n.789G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.103100252G>CCA488193610EXOC3L4c.33G>C (p.Pro11=)
c.207G>C (p.Pro69=)
c.144G>C (p.Pro48=)
n.762G>C
n.789G>C
14g.103100252G=CA2160139981EXOC3L4c.33G= (p.Pro11=)
c.207G= (p.Pro69=)
c.144G= (p.Pro48=)
n.762G=
n.789G=
14g.103100252G>TCA488193611EXOC3L4c.33G>T (p.Pro11=)
c.207G>T (p.Pro69=)
c.144G>T (p.Pro48=)
n.762G>T
n.789G>T
 gnomAD v4
14g.103100253G>ACA391080858EXOC3L4c.34G>A (p.Glu12Lys)
c.208G>A (p.Glu70Lys)
c.145G>A (p.Glu49Lys)
n.763G>A
n.790G>A
 gnomAD v4
14g.103100253G>CCA391080857EXOC3L4c.34G>C (p.Glu12Gln)
c.208G>C (p.Glu70Gln)
c.145G>C (p.Glu49Gln)
n.763G>C
n.790G>C
 gnomAD v4
14g.103100253G>TCA391080856EXOC3L4c.34G>T (p.Glu12Ter)
c.208G>T (p.Glu70Ter)
c.145G>T (p.Glu49Ter)
n.763G>T
n.790G>T
 gnomAD v4
14g.103100254A=CA2160139982EXOC3L4c.35A= (p.Glu12=)
c.209A= (p.Glu70=)
c.146A= (p.Glu49=)
n.764A=
n.791A=
14g.103100254A>CCA391080861EXOC3L4c.35A>C (p.Glu12Ala)
c.209A>C (p.Glu70Ala)
c.146A>C (p.Glu49Ala)
n.764A>C
n.791A>C
14g.103100254A>GCA391080859EXOC3L4c.35A>G (p.Glu12Gly)
c.209A>G (p.Glu70Gly)
c.146A>G (p.Glu49Gly)
n.764A>G
n.791A>G
 dbSNP gnomAD v2
14g.103100254A>TCA391080860EXOC3L4c.35A>T (p.Glu12Val)
c.209A>T (p.Glu70Val)
c.146A>T (p.Glu49Val)
n.764A>T
n.791A>T
14g.103100255G>ACA488193617EXOC3L4c.36G>A (p.Glu12=)
c.210G>A (p.Glu70=)
c.147G>A (p.Glu49=)
n.765G>A
n.792G>A
 gnomAD v4
14g.103100255G>CCA391080862EXOC3L4c.36G>C (p.Glu12Asp)
c.210G>C (p.Glu70Asp)
c.147G>C (p.Glu49Asp)
n.765G>C
n.792G>C
14g.103100255G>TCA391080863EXOC3L4c.36G>T (p.Glu12Asp)
c.210G>T (p.Glu70Asp)
c.147G>T (p.Glu49Asp)
n.765G>T
n.792G>T
 gnomAD v4
14g.103100256C>ACA391080864EXOC3L4c.37C>A (p.Leu13Met)
c.211C>A (p.Leu71Met)
c.148C>A (p.Leu50Met)
n.766C>A
n.793C>A
 gnomAD v4
14g.103100256C>GCA391080865EXOC3L4c.37C>G (p.Leu13Val)
c.211C>G (p.Leu71Val)
c.148C>G (p.Leu50Val)
n.766C>G
n.793C>G
14g.103100256C>TCA488193619EXOC3L4c.37C>T (p.Leu13=)
c.211C>T (p.Leu71=)
c.148C>T (p.Leu50=)
n.766C>T
n.793C>T
14g.103100257T>ACA391080866EXOC3L4c.38T>A (p.Leu13Gln)
c.212T>A (p.Leu71Gln)
c.149T>A (p.Leu50Gln)
n.767T>A
n.794T>A
14g.103100257T>CCA391080867EXOC3L4c.38T>C (p.Leu13Pro)
c.212T>C (p.Leu71Pro)
c.149T>C (p.Leu50Pro)
n.767T>C
n.794T>C
 gnomAD v4
14g.103100257T>GCA391080868EXOC3L4c.38T>G (p.Leu13Arg)
c.212T>G (p.Leu71Arg)
c.149T>G (p.Leu50Arg)
n.767T>G
n.794T>G
14g.103100258G>ACA488193624EXOC3L4c.39G>A (p.Leu13=)
c.213G>A (p.Leu71=)
c.150G>A (p.Leu50=)
n.768G>A
n.795G>A
 gnomAD v4
14g.103100258G>CCA488193625EXOC3L4c.39G>C (p.Leu13=)
c.213G>C (p.Leu71=)
c.150G>C (p.Leu50=)
n.768G>C
n.795G>C
14g.103100258G>TCA488193626EXOC3L4c.39G>T (p.Leu13=)
c.213G>T (p.Leu71=)
c.150G>T (p.Leu50=)
n.768G>T
n.795G>T
 gnomAD v4
14g.103100259C>ACA391080869EXOC3L4c.40C>A (p.Gln14Lys)
c.214C>A (p.Gln72Lys)
c.151C>A (p.Gln51Lys)
n.769C>A
n.796C>A
 gnomAD v4
14g.103100259C>GCA391080870EXOC3L4c.40C>G (p.Gln14Glu)
c.214C>G (p.Gln72Glu)
c.151C>G (p.Gln51Glu)
n.769C>G
n.796C>G
 gnomAD v4
14g.103100259C>TCA391080871EXOC3L4c.40C>T (p.Gln14Ter)
c.214C>T (p.Gln72Ter)
c.151C>T (p.Gln51Ter)
n.769C>T
n.796C>T
 gnomAD v4
14g.103100260A=CA2160139983EXOC3L4c.41A= (p.Gln14=)
c.215A= (p.Gln72=)
c.152A= (p.Gln51=)
n.770A=
n.797A=
14g.103100260A>CCA391080874EXOC3L4c.41A>C (p.Gln14Pro)
c.215A>C (p.Gln72Pro)
c.152A>C (p.Gln51Pro)
n.770A>C
n.797A>C
14g.103100260A>GCA391080873EXOC3L4c.41A>G (p.Gln14Arg)
c.215A>G (p.Gln72Arg)
c.152A>G (p.Gln51Arg)
n.770A>G
n.797A>G
 dbSNP
14g.103100260A>TCA391080872EXOC3L4c.41A>T (p.Gln14Leu)
c.215A>T (p.Gln72Leu)
c.152A>T (p.Gln51Leu)
n.770A>T
n.797A>T
14g.103100261G>ACA488193629EXOC3L4c.42G>A (p.Gln14=)
c.216G>A (p.Gln72=)
c.153G>A (p.Gln51=)
n.771G>A
n.798G>A
14g.103100261G>CCA391080875EXOC3L4c.42G>C (p.Gln14His)
c.216G>C (p.Gln72His)
c.153G>C (p.Gln51His)
n.771G>C
n.798G>C
14g.103100261G>TCA391080876EXOC3L4c.42G>T (p.Gln14His)
c.216G>T (p.Gln72His)
c.153G>T (p.Gln51His)
n.771G>T
n.798G>T
 gnomAD v4
14g.103100262A>CCA391080877EXOC3L4c.43A>C (p.Ser15Arg)
c.217A>C (p.Ser73Arg)
c.154A>C (p.Ser52Arg)
n.772A>C
n.799A>C
14g.103100262A>GCA391080878EXOC3L4c.43A>G (p.Ser15Gly)
c.217A>G (p.Ser73Gly)
c.154A>G (p.Ser52Gly)
n.772A>G
n.799A>G
 gnomAD v4
14g.103100262A>TCA391080879EXOC3L4c.43A>T (p.Ser15Cys)
c.217A>T (p.Ser73Cys)
c.154A>T (p.Ser52Cys)
n.772A>T
n.799A>T
14g.103100263G>ACA391080880EXOC3L4c.44G>A (p.Ser15Asn)
c.218G>A (p.Ser73Asn)
c.155G>A (p.Ser52Asn)
n.773G>A
n.800G>A
14g.103100263G>CCA391080881EXOC3L4c.44G>C (p.Ser15Thr)
c.218G>C (p.Ser73Thr)
c.155G>C (p.Ser52Thr)
n.773G>C
n.800G>C
14g.103100263G>TCA391080882EXOC3L4c.44G>T (p.Ser15Ile)
c.218G>T (p.Ser73Ile)
c.155G>T (p.Ser52Ile)
n.773G>T
n.800G>T
 gnomAD v4
14g.103100264T>ACA391080883EXOC3L4c.45T>A (p.Ser15Arg)
c.219T>A (p.Ser73Arg)
c.156T>A (p.Ser52Arg)
n.774T>A
n.801T>A
14g.103100264T>CCA488193635EXOC3L4c.45T>C (p.Ser15=)
c.219T>C (p.Ser73=)
c.156T>C (p.Ser52=)
n.774T>C
n.801T>C
14g.103100264T>GCA391080884EXOC3L4c.45T>G (p.Ser15Arg)
c.219T>G (p.Ser73Arg)
c.156T>G (p.Ser52Arg)
n.774T>G
n.801T>G
14g.103100265C>ACA391080885EXOC3L4c.46C>A (p.Pro16Thr)
c.220C>A (p.Pro74Thr)
c.157C>A (p.Pro53Thr)
n.775C>A
n.802C>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100265C=CA2160139984EXOC3L4c.46C= (p.Pro16=)
c.220C= (p.Pro74=)
c.157C= (p.Pro53=)
n.775C=
n.802C=
14g.103100265C>GCA391080886EXOC3L4c.46C>G (p.Pro16Ala)
c.220C>G (p.Pro74Ala)
c.157C>G (p.Pro53Ala)
n.775C>G
n.802C>G
14g.103100265C>TCA391080887EXOC3L4c.46C>T (p.Pro16Ser)
c.220C>T (p.Pro74Ser)
c.157C>T (p.Pro53Ser)
n.775C>T
n.802C>T
14g.103100266C>ACA391080889EXOC3L4c.47C>A (p.Pro16His)
c.221C>A (p.Pro74His)
c.158C>A (p.Pro53His)
n.776C>A
n.803C>A
 gnomAD v4
14g.103100266C>GCA391080890EXOC3L4c.47C>G (p.Pro16Arg)
c.221C>G (p.Pro74Arg)
c.158C>G (p.Pro53Arg)
n.776C>G
n.803C>G
14g.103100266C>TCA391080888EXOC3L4c.47C>T (p.Pro16Leu)
c.221C>T (p.Pro74Leu)
c.158C>T (p.Pro53Leu)
n.776C>T
n.803C>T
14g.103100267C>ACA488193643EXOC3L4c.48C>A (p.Pro16=)
c.222C>A (p.Pro74=)
c.159C>A (p.Pro53=)
n.777C>A
n.804C>A
 gnomAD v4
14g.103100267C>GCA488193645EXOC3L4c.48C>G (p.Pro16=)
c.222C>G (p.Pro74=)
c.159C>G (p.Pro53=)
n.777C>G
n.804C>G
14g.103100267C>TCA488193646EXOC3L4c.48C>T (p.Pro16=)
c.222C>T (p.Pro74=)
c.159C>T (p.Pro53=)
n.777C>T
n.804C>T
14g.103100268A>CCA391080891EXOC3L4c.49A>C (p.Lys17Gln)
c.223A>C (p.Lys75Gln)
c.160A>C (p.Lys54Gln)
n.778A>C
n.805A>C
14g.103100268A>GCA391080893EXOC3L4c.49A>G (p.Lys17Glu)
c.223A>G (p.Lys75Glu)
c.160A>G (p.Lys54Glu)
n.778A>G
n.805A>G
14g.103100268A>TCA391080892EXOC3L4c.49A>T (p.Lys17Ter)
c.223A>T (p.Lys75Ter)
c.160A>T (p.Lys54Ter)
n.778A>T
n.805A>T
14g.103100269A>CCA391080894EXOC3L4c.50A>C (p.Lys17Thr)
c.224A>C (p.Lys75Thr)
c.161A>C (p.Lys54Thr)
n.779A>C
n.806A>C
14g.103100269A>GCA391080895EXOC3L4c.50A>G (p.Lys17Arg)
c.224A>G (p.Lys75Arg)
c.161A>G (p.Lys54Arg)
n.779A>G
n.806A>G
 gnomAD v4
14g.103100269A>TCA391080896EXOC3L4c.50A>T (p.Lys17Met)
c.224A>T (p.Lys75Met)
c.161A>T (p.Lys54Met)
n.779A>T
n.806A>T
14g.103100270G>ACA7361794EXOC3L4c.51G>A (p.Lys17=)
c.225G>A (p.Lys75=)
c.162G>A (p.Lys54=)
n.780G>A
n.807G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.103100270G>CCA391080897EXOC3L4c.51G>C (p.Lys17Asn)
c.225G>C (p.Lys75Asn)
c.162G>C (p.Lys54Asn)
n.780G>C
n.807G>C
14g.103100270G=CA2160139985EXOC3L4c.51G= (p.Lys17=)
c.225G= (p.Lys75=)
c.162G= (p.Lys54=)
n.780G=
n.807G=
14g.103100270G>TCA391080898EXOC3L4c.51G>T (p.Lys17Asn)
c.225G>T (p.Lys75Asn)
c.162G>T (p.Lys54Asn)
n.780G>T
n.807G>T
14g.103100271G>ACA391080901EXOC3L4c.52G>A (p.Glu18Lys)
c.226G>A (p.Glu76Lys)
c.163G>A (p.Glu55Lys)
n.781G>A
n.808G>A
 gnomAD v4
14g.103100271G>CCA391080899EXOC3L4c.52G>C (p.Glu18Gln)
c.226G>C (p.Glu76Gln)
c.163G>C (p.Glu55Gln)
n.781G>C
n.808G>C
14g.103100271G>TCA391080900EXOC3L4c.52G>T (p.Glu18Ter)
c.226G>T (p.Glu76Ter)
c.163G>T (p.Glu55Ter)
n.781G>T
n.808G>T
 COSMIC
14g.103100272A>CCA391080902EXOC3L4c.53A>C (p.Glu18Ala)
c.227A>C (p.Glu76Ala)
c.164A>C (p.Glu55Ala)
n.782A>C
n.809A>C
14g.103100272A>GCA391080903EXOC3L4c.53A>G (p.Glu18Gly)
c.227A>G (p.Glu76Gly)
c.164A>G (p.Glu55Gly)
n.782A>G
n.809A>G
14g.103100272A>TCA391080904EXOC3L4c.53A>T (p.Glu18Val)
c.227A>T (p.Glu76Val)
c.164A>T (p.Glu55Val)
n.782A>T
n.809A>T
14g.103100273G>ACA488193659EXOC3L4c.54G>A (p.Glu18=)
c.228G>A (p.Glu76=)
c.165G>A (p.Glu55=)
n.783G>A
n.810G>A
 gnomAD v4
14g.103100273G>CCA391080905EXOC3L4c.54G>C (p.Glu18Asp)
c.228G>C (p.Glu76Asp)
c.165G>C (p.Glu55Asp)
n.783G>C
n.810G>C
14g.103100273G>TCA391080906EXOC3L4c.54G>T (p.Glu18Asp)
c.228G>T (p.Glu76Asp)
c.165G>T (p.Glu55Asp)
n.783G>T
n.810G>T
 gnomAD v4
14g.103100274G>ACA391080907EXOC3L4c.55G>A (p.Ala19Thr)
c.229G>A (p.Ala77Thr)
c.166G>A (p.Ala56Thr)
n.784G>A
n.811G>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100274G>CCA391080909EXOC3L4c.55G>C (p.Ala19Pro)
c.229G>C (p.Ala77Pro)
c.166G>C (p.Ala56Pro)
n.784G>C
n.811G>C
14g.103100274G=CA2160139986EXOC3L4c.55G= (p.Ala19=)
c.229G= (p.Ala77=)
c.166G= (p.Ala56=)
n.784G=
n.811G=
14g.103100274G>TCA391080908EXOC3L4c.55G>T (p.Ala19Ser)
c.229G>T (p.Ala77Ser)
c.166G>T (p.Ala56Ser)
n.784G>T
n.811G>T
14g.103100275C>ACA391080910EXOC3L4c.56C>A (p.Ala19Asp)
c.230C>A (p.Ala77Asp)
c.167C>A (p.Ala56Asp)
n.785C>A
n.812C>A
 gnomAD v4
14g.103100275C>GCA391080911EXOC3L4c.56C>G (p.Ala19Gly)
c.230C>G (p.Ala77Gly)
c.167C>G (p.Ala56Gly)
n.785C>G
n.812C>G
14g.103100275C>TCA391080912EXOC3L4c.56C>T (p.Ala19Val)
c.230C>T (p.Ala77Val)
c.167C>T (p.Ala56Val)
n.785C>T
n.812C>T
14g.103100276T>ACA488193662EXOC3L4c.57T>A (p.Ala19=)
c.231T>A (p.Ala77=)
c.168T>A (p.Ala56=)
n.786T>A
n.813T>A
14g.103100276T>CCA488193665EXOC3L4c.57T>C (p.Ala19=)
c.231T>C (p.Ala77=)
c.168T>C (p.Ala56=)
n.786T>C
n.813T>C
14g.103100276T>GCA488193663EXOC3L4c.57T>G (p.Ala19=)
c.231T>G (p.Ala77=)
c.168T>G (p.Ala56=)
n.786T>G
n.813T>G
 dbSNP
14g.103100276T=CA2160139987EXOC3L4c.57T= (p.Ala19=)
c.231T= (p.Ala77=)
c.168T= (p.Ala56=)
n.786T=
n.813T=
14g.103100277G>ACA391080913EXOC3L4c.58G>A (p.Glu20Lys)
c.232G>A (p.Glu78Lys)
c.169G>A (p.Glu57Lys)
n.787G>A
n.814G>A
 dbSNP gnomAD v3 gnomAD v4
14g.103100277G>CCA391080914EXOC3L4c.58G>C (p.Glu20Gln)
c.232G>C (p.Glu78Gln)
c.169G>C (p.Glu57Gln)
n.787G>C
n.814G>C
14g.103100277G=CA2160139988EXOC3L4c.58G= (p.Glu20=)
c.232G= (p.Glu78=)
c.169G= (p.Glu57=)
n.787G=
n.814G=
14g.103100277G>TCA391080915EXOC3L4c.58G>T (p.Glu20Ter)
c.232G>T (p.Glu78Ter)
c.169G>T (p.Glu57Ter)
n.787G>T
n.814G>T
 gnomAD v4
14g.103100278A=CA2160139989EXOC3L4c.59A= (p.Glu20=)
c.233A= (p.Glu78=)
c.170A= (p.Glu57=)
n.788A=
n.815A=
14g.103100278A>CCA391080916EXOC3L4c.59A>C (p.Glu20Ala)
c.233A>C (p.Glu78Ala)
c.170A>C (p.Glu57Ala)
n.788A>C
n.815A>C
14g.103100278A>GCA391080917EXOC3L4c.59A>G (p.Glu20Gly)
c.233A>G (p.Glu78Gly)
c.170A>G (p.Glu57Gly)
n.788A>G
n.815A>G
 dbSNP gnomAD v4
14g.103100278A>TCA391080918EXOC3L4c.59A>T (p.Glu20Val)
c.233A>T (p.Glu78Val)
c.170A>T (p.Glu57Val)
n.788A>T
n.815A>T
 gnomAD v4
14g.103100279G>ACA488193668EXOC3L4c.60G>A (p.Glu20=)
c.234G>A (p.Glu78=)
c.171G>A (p.Glu57=)
n.789G>A
n.816G>A
 gnomAD v4
14g.103100279G>CCA391080919EXOC3L4c.60G>C (p.Glu20Asp)
c.234G>C (p.Glu78Asp)
c.171G>C (p.Glu57Asp)
n.789G>C
n.816G>C
14g.103100279G>TCA391080920EXOC3L4c.60G>T (p.Glu20Asp)
c.234G>T (p.Glu78Asp)
c.171G>T (p.Glu57Asp)
n.789G>T
n.816G>T
 gnomAD v4
14g.103100280G>ACA391080921EXOC3L4c.61G>A (p.Glu21Lys)
c.235G>A (p.Glu79Lys)
c.172G>A (p.Glu58Lys)
n.790G>A
n.817G>A
 gnomAD v4
14g.103100280G>CCA391080923EXOC3L4c.61G>C (p.Glu21Gln)
c.235G>C (p.Glu79Gln)
c.172G>C (p.Glu58Gln)
n.790G>C
n.817G>C
14g.103100280G=CA2160139990EXOC3L4c.61G= (p.Glu21=)
c.235G= (p.Glu79=)
c.172G= (p.Glu58=)
n.790G=
n.817G=
14g.103100280G>TCA391080922EXOC3L4c.61G>T (p.Glu21Ter)
c.235G>T (p.Glu79Ter)
c.172G>T (p.Glu58Ter)
n.790G>T
n.817G>T
 dbSNP gnomAD v2 gnomAD v4
14g.103100281A=CA2160139991EXOC3L4c.62A= (p.Glu21=)
c.236A= (p.Glu79=)
c.173A= (p.Glu58=)
n.791A=
n.818A=
14g.103100281A>CCA391080924EXOC3L4c.62A>C (p.Glu21Ala)
c.236A>C (p.Glu79Ala)
c.173A>C (p.Glu58Ala)
n.791A>C
n.818A>C
 dbSNP
14g.103100281A>GCA391080925EXOC3L4c.62A>G (p.Glu21Gly)
c.236A>G (p.Glu79Gly)
c.173A>G (p.Glu58Gly)
n.791A>G
n.818A>G
14g.103100281A>TCA391080926EXOC3L4c.62A>T (p.Glu21Val)
c.236A>T (p.Glu79Val)
c.173A>T (p.Glu58Val)
n.791A>T
n.818A>T
14g.103100282G>ACA488193678EXOC3L4c.63G>A (p.Glu21=)
c.237G>A (p.Glu79=)
c.174G>A (p.Glu58=)
n.792G>A
n.819G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
14g.103100282G>CCA391080927EXOC3L4c.63G>C (p.Glu21Asp)
c.237G>C (p.Glu79Asp)
c.174G>C (p.Glu58Asp)
n.792G>C
n.819G>C
14g.103100282G=CA2160139992EXOC3L4c.63G= (p.Glu21=)
c.237G= (p.Glu79=)
c.174G= (p.Glu58=)
n.792G=
n.819G=
14g.103100282G>TCA391080928EXOC3L4c.63G>T (p.Glu21Asp)
c.237G>T (p.Glu79Asp)
c.174G>T (p.Glu58Asp)
n.792G>T
n.819G>T
 gnomAD v4
14g.103100283C>ACA267170692EXOC3L4c.64C>A (p.Pro22Thr)
c.238C>A (p.Pro80Thr)
c.175C>A (p.Pro59Thr)
n.793C>A
n.820C>A
 dbSNP gnomAD v2 gnomAD v4
14g.103100283C=CA2160139993EXOC3L4c.64C= (p.Pro22=)
c.238C= (p.Pro80=)
c.175C= (p.Pro59=)
n.793C=
n.820C=
14g.103100283C>GCA391080929EXOC3L4c.64C>G (p.Pro22Ala)
c.238C>G (p.Pro80Ala)
c.175C>G (p.Pro59Ala)
n.793C>G
n.820C>G
 gnomAD v4
14g.103100283C>TCA391080930EXOC3L4c.64C>T (p.Pro22Ser)
c.238C>T (p.Pro80Ser)
c.175C>T (p.Pro59Ser)
n.793C>T
n.820C>T
 gnomAD v4
14g.103100284C>ACA267170695EXOC3L4c.65C>A (p.Pro22Gln)
c.239C>A (p.Pro80Gln)
c.176C>A (p.Pro59Gln)
n.794C>A
n.821C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.103100284C=CA2160139994EXOC3L4c.65C= (p.Pro22=)
c.239C= (p.Pro80=)
c.176C= (p.Pro59=)
n.794C=
n.821C=
14g.103100284C>GCA391080931EXOC3L4c.65C>G (p.Pro22Arg)
c.239C>G (p.Pro80Arg)
c.176C>G (p.Pro59Arg)
n.794C>G
n.821C>G
14g.103100284C>TCA391080932EXOC3L4c.65C>T (p.Pro22Leu)
c.239C>T (p.Pro80Leu)
c.176C>T (p.Pro59Leu)
n.794C>T
n.821C>T
14g.103100286_103100287delCA2626692194EXOC3L4c.67_68del (p.Gln23AspfsTer?)
c.241_242del (p.Gln81AspfsTer?)
c.178_179del (p.Gln60AspfsTer?)
n.796_797del
n.823_824del
 gnomAD v4
14g.103100285A>CCA488193693EXOC3L4c.66A>C (p.Pro22=)
c.240A>C (p.Pro80=)
c.177A>C (p.Pro59=)
n.795A>C
n.822A>C
14g.103100285A>GCA488193692EXOC3L4c.66A>G (p.Pro22=)
c.240A>G (p.Pro80=)
c.177A>G (p.Pro59=)
n.795A>G
n.822A>G
14g.103100285A>TCA488193691EXOC3L4c.66A>T (p.Pro22=)
c.240A>T (p.Pro80=)
c.177A>T (p.Pro59=)
n.795A>T
n.822A>T
 gnomAD v4
14g.103100286C>ACA391080935EXOC3L4c.67C>A (p.Gln23Lys)
c.241C>A (p.Gln81Lys)
c.178C>A (p.Gln60Lys)
n.796C>A
n.823C>A
 gnomAD v4
14g.103100286C>GCA391080933EXOC3L4c.67C>G (p.Gln23Glu)
c.241C>G (p.Gln81Glu)
c.178C>G (p.Gln60Glu)
n.796C>G
n.823C>G
14g.103100286C>TCA391080934EXOC3L4c.67C>T (p.Gln23Ter)
c.241C>T (p.Gln81Ter)
c.178C>T (p.Gln60Ter)
n.796C>T
n.823C>T
14g.103100287A>CCA391080936EXOC3L4c.68A>C (p.Gln23Pro)
c.242A>C (p.Gln81Pro)
c.179A>C (p.Gln60Pro)
n.797A>C
n.824A>C
14g.103100287A>GCA391080937EXOC3L4c.68A>G (p.Gln23Arg)
c.242A>G (p.Gln81Arg)
c.179A>G (p.Gln60Arg)
n.797A>G
n.824A>G
 gnomAD v4
14g.103100287A>TCA391080938EXOC3L4c.68A>T (p.Gln23Leu)
c.242A>T (p.Gln81Leu)
c.179A>T (p.Gln60Leu)
n.797A>T
n.824A>T
14g.103100288G>ACA488193696EXOC3L4c.69G>A (p.Gln23=)
c.243G>A (p.Gln81=)
c.180G>A (p.Gln60=)
n.798G>A
n.825G>A
 gnomAD v4
14g.103100288G>CCA391080939EXOC3L4c.69G>C (p.Gln23His)
c.243G>C (p.Gln81His)
c.180G>C (p.Gln60His)
n.798G>C
n.825G>C
 dbSNP gnomAD v4
14g.103100288G=CA2160139995EXOC3L4c.69G= (p.Gln23=)
c.243G= (p.Gln81=)
c.180G= (p.Gln60=)
n.798G=
n.825G=
14g.103100288G>TCA391080940EXOC3L4c.69G>T (p.Gln23His)
c.243G>T (p.Gln81His)
c.180G>T (p.Gln60His)
n.798G>T
n.825G>T
14g.103100289A>CCA391080941EXOC3L4c.70A>C (p.Thr24Pro)
c.244A>C (p.Thr82Pro)
c.181A>C (p.Thr61Pro)
n.799A>C
n.826A>C
14g.103100289A>GCA391080942EXOC3L4c.70A>G (p.Thr24Ala)
c.244A>G (p.Thr82Ala)
c.181A>G (p.Thr61Ala)
n.799A>G
n.826A>G
14g.103100289A>TCA391080943EXOC3L4c.70A>T (p.Thr24Ser)
c.244A>T (p.Thr82Ser)
c.181A>T (p.Thr61Ser)
n.799A>T
n.826A>T

Number of alleles fetched