Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91273524C>ACA390610690CCDC88Cc.5188G>T (p.Ala1730Ser)
c.760G>T (p.Ala254Ser)
n.1000G>T
c.1416G>T
c.5080G>T (p.Ala1694Ser)
n.5463G>T
c.2269G>T (p.Ala757Ser)
n.5461G>T
 gnomAD v4
14g.91273524C>GCA390610691CCDC88Cc.5188G>C (p.Ala1730Pro)
c.760G>C (p.Ala254Pro)
n.1000G>C
c.1416G>C
c.5080G>C (p.Ala1694Pro)
n.5463G>C
c.2269G>C (p.Ala757Pro)
n.5461G>C
14g.91273524C>TCA390610692CCDC88Cc.5188G>A (p.Ala1730Thr)
c.760G>A (p.Ala254Thr)
n.1000G>A
c.1416G>A
c.5080G>A (p.Ala1694Thr)
n.5463G>A
c.2269G>A (p.Ala757Thr)
n.5461G>A
 gnomAD v4
14g.91273525delCA2626123446CCDC88Cc.5188del (p.Ala1730ProfsTer16)
c.760del (p.Ala254ProfsTer16)
n.1000del
c.1416del
c.5080del (p.Ala1694ProfsTer16)
n.5463del
c.2269del (p.Ala757ProfsTer16)
n.5461del
 gnomAD v4
14g.91273525C>ACA487829325CCDC88Cc.5187G>T (p.Val1729=)
c.759G>T (p.Val253=)
n.999G>T
c.1415G>T
c.5079G>T (p.Val1693=)
n.5462G>T
c.2268G>T (p.Val756=)
n.5460G>T
14g.91273525C>GCA487829327CCDC88Cc.5187G>C (p.Val1729=)
c.759G>C (p.Val253=)
n.999G>C
c.1415G>C
c.5079G>C (p.Val1693=)
n.5462G>C
c.2268G>C (p.Val756=)
n.5460G>C
14g.91273525C>TCA487829326CCDC88Cc.5187G>A (p.Val1729=)
c.759G>A (p.Val253=)
n.999G>A
c.1415G>A
c.5079G>A (p.Val1693=)
n.5462G>A
c.2268G>A (p.Val756=)
n.5460G>A
 gnomAD v4
14g.91273526A>CCA390610695CCDC88Cc.5186T>G (p.Val1729Gly)
c.758T>G (p.Val253Gly)
n.998T>G
c.1414T>G
c.5078T>G (p.Val1693Gly)
n.5461T>G
c.2267T>G (p.Val756Gly)
n.5459T>G
14g.91273526A>GCA390610693CCDC88Cc.5186T>C (p.Val1729Ala)
c.758T>C (p.Val253Ala)
n.998T>C
c.1414T>C
c.5078T>C (p.Val1693Ala)
n.5461T>C
c.2267T>C (p.Val756Ala)
n.5459T>C
14g.91273526A>TCA390610694CCDC88Cc.5186T>A (p.Val1729Glu)
c.758T>A (p.Val253Glu)
n.998T>A
c.1414T>A
c.5078T>A (p.Val1693Glu)
n.5461T>A
c.2267T>A (p.Val756Glu)
n.5459T>A
14g.91273527C>ACA390610696CCDC88Cc.5185G>T (p.Val1729Leu)
c.757G>T (p.Val253Leu)
n.997G>T
c.1413G>T
c.5077G>T (p.Val1693Leu)
n.5460G>T
c.2266G>T (p.Val756Leu)
n.5458G>T
 gnomAD v4
14g.91273527C>GCA390610697CCDC88Cc.5185G>C (p.Val1729Leu)
c.757G>C (p.Val253Leu)
n.997G>C
c.1413G>C
c.5077G>C (p.Val1693Leu)
n.5460G>C
c.2266G>C (p.Val756Leu)
n.5458G>C
14g.91273527C>TCA390610698CCDC88Cc.5185G>A (p.Val1729Met)
c.757G>A (p.Val253Met)
n.997G>A
c.1413G>A
c.5077G>A (p.Val1693Met)
n.5460G>A
c.2266G>A (p.Val756Met)
n.5458G>A
14g.91273528A>CCA390610699CCDC88Cc.5184T>G (p.Phe1728Leu)
c.756T>G (p.Phe252Leu)
n.996T>G
c.1412T>G
c.5076T>G (p.Phe1692Leu)
n.5459T>G
c.2265T>G (p.Phe755Leu)
n.5457T>G
14g.91273528A>GCA487829328CCDC88Cc.5184T>C (p.Phe1728=)
c.756T>C (p.Phe252=)
n.996T>C
c.1412T>C
c.5076T>C (p.Phe1692=)
n.5459T>C
c.2265T>C (p.Phe755=)
n.5457T>C
14g.91273528A>TCA390610700CCDC88Cc.5184T>A (p.Phe1728Leu)
c.756T>A (p.Phe252Leu)
n.996T>A
c.1412T>A
c.5076T>A (p.Phe1692Leu)
n.5459T>A
c.2265T>A (p.Phe755Leu)
n.5457T>A
 gnomAD v4
14g.91273529A=CA2154902614CCDC88Cc.5183T= (p.Phe1728=)
c.755T= (p.Phe252=)
n.995T=
c.1411T=
c.5075T= (p.Phe1692=)
n.5458T=
c.2264T= (p.Phe755=)
n.5456T=
14g.91273529A>CCA390610702CCDC88Cc.5183T>G (p.Phe1728Cys)
c.755T>G (p.Phe252Cys)
n.995T>G
c.1411T>G
c.5075T>G (p.Phe1692Cys)
n.5458T>G
c.2264T>G (p.Phe755Cys)
n.5456T>G
 dbSNP gnomAD v4
14g.91273529A>GCA7308715CCDC88Cc.5183T>C (p.Phe1728Ser)
c.755T>C (p.Phe252Ser)
n.995T>C
c.1411T>C
c.5075T>C (p.Phe1692Ser)
n.5458T>C
c.2264T>C (p.Phe755Ser)
n.5456T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273529A>TCA390610701CCDC88Cc.5183T>A (p.Phe1728Tyr)
c.755T>A (p.Phe252Tyr)
n.995T>A
c.1411T>A
c.5075T>A (p.Phe1692Tyr)
n.5458T>A
c.2264T>A (p.Phe755Tyr)
n.5456T>A
14g.91273530A=CA2154902621CCDC88Cc.5182T= (p.Phe1728=)
c.754T= (p.Phe252=)
n.994T=
c.1410T=
c.5074T= (p.Phe1692=)
n.5457T=
c.2263T= (p.Phe755=)
n.5455T=
14g.91273530A>CCA390610703CCDC88Cc.5182T>G (p.Phe1728Val)
c.754T>G (p.Phe252Val)
n.994T>G
c.1410T>G
c.5074T>G (p.Phe1692Val)
n.5457T>G
c.2263T>G (p.Phe755Val)
n.5455T>G
14g.91273530A>GCA390610704CCDC88Cc.5182T>C (p.Phe1728Leu)
c.754T>C (p.Phe252Leu)
n.994T>C
c.1410T>C
c.5074T>C (p.Phe1692Leu)
n.5457T>C
c.2263T>C (p.Phe755Leu)
n.5455T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273530A>TCA390610705CCDC88Cc.5182T>A (p.Phe1728Ile)
c.754T>A (p.Phe252Ile)
n.994T>A
c.1410T>A
c.5074T>A (p.Phe1692Ile)
n.5457T>A
c.2263T>A (p.Phe755Ile)
n.5455T>A
14g.91273531G>ACA7308716CCDC88Cc.5181C>T (p.Asn1727=)
c.753C>T (p.Asn251=)
n.993C>T
c.1409C>T
c.5073C>T (p.Asn1691=)
n.5456C>T
c.2262C>T (p.Asn754=)
n.5454C>T
 ClinVar dbSNP ExAC gnomAD v4
14g.91273531G>CCA390610706CCDC88Cc.5181C>G (p.Asn1727Lys)
c.753C>G (p.Asn251Lys)
n.993C>G
c.1409C>G
c.5073C>G (p.Asn1691Lys)
n.5456C>G
c.2262C>G (p.Asn754Lys)
n.5454C>G
14g.91273531G=CA2154902627CCDC88Cc.5181C= (p.Asn1727=)
c.753C= (p.Asn251=)
n.993C=
c.1409C=
c.5073C= (p.Asn1691=)
n.5456C=
c.2262C= (p.Asn754=)
n.5454C=
14g.91273531G>TCA390610707CCDC88Cc.5181C>A (p.Asn1727Lys)
c.753C>A (p.Asn251Lys)
n.993C>A
c.1409C>A
c.5073C>A (p.Asn1691Lys)
n.5456C>A
c.2262C>A (p.Asn754Lys)
n.5454C>A
14g.91273532T>ACA390610708CCDC88Cc.5180A>T (p.Asn1727Ile)
c.752A>T (p.Asn251Ile)
n.992A>T
c.1408A>T
c.5072A>T (p.Asn1691Ile)
n.5455A>T
c.2261A>T (p.Asn754Ile)
n.5453A>T
14g.91273532T>CCA390610709CCDC88Cc.5180A>G (p.Asn1727Ser)
c.752A>G (p.Asn251Ser)
n.992A>G
c.1408A>G
c.5072A>G (p.Asn1691Ser)
n.5455A>G
c.2261A>G (p.Asn754Ser)
n.5453A>G
 gnomAD v4
14g.91273532T>GCA390610710CCDC88Cc.5180A>C (p.Asn1727Thr)
c.752A>C (p.Asn251Thr)
n.992A>C
c.1408A>C
c.5072A>C (p.Asn1691Thr)
n.5455A>C
c.2261A>C (p.Asn754Thr)
n.5453A>C
 dbSNP
14g.91273532T=CA2154902632CCDC88Cc.5180A= (p.Asn1727=)
c.752A= (p.Asn251=)
n.992A=
c.1408A=
c.5072A= (p.Asn1691=)
n.5455A=
c.2261A= (p.Asn754=)
n.5453A=
14g.91273533T>ACA390610711CCDC88Cc.5179A>T (p.Asn1727Tyr)
c.751A>T (p.Asn251Tyr)
n.991A>T
c.1407A>T
c.5071A>T (p.Asn1691Tyr)
n.5454A>T
c.2260A>T (p.Asn754Tyr)
n.5452A>T
14g.91273533T>CCA390610712CCDC88Cc.5179A>G (p.Asn1727Asp)
c.751A>G (p.Asn251Asp)
n.991A>G
c.1407A>G
c.5071A>G (p.Asn1691Asp)
n.5454A>G
c.2260A>G (p.Asn754Asp)
n.5452A>G
14g.91273533T>GCA390610713CCDC88Cc.5179A>C (p.Asn1727His)
c.751A>C (p.Asn251His)
n.991A>C
c.1407A>C
c.5071A>C (p.Asn1691His)
n.5454A>C
c.2260A>C (p.Asn754His)
n.5452A>C
14g.91273534G>ACA487829329CCDC88Cc.5178C>T (p.Thr1726=)
c.750C>T (p.Thr250=)
n.990C>T
c.1406C>T
c.5070C>T (p.Thr1690=)
n.5453C>T
c.2259C>T (p.Thr753=)
n.5451C>T
14g.91273534G>CCA487829330CCDC88Cc.5178C>G (p.Thr1726=)
c.750C>G (p.Thr250=)
n.990C>G
c.1406C>G
c.5070C>G (p.Thr1690=)
n.5453C>G
c.2259C>G (p.Thr753=)
n.5451C>G
 gnomAD v4
14g.91273534G>TCA487829331CCDC88Cc.5178C>A (p.Thr1726=)
c.750C>A (p.Thr250=)
n.990C>A
c.1406C>A
c.5070C>A (p.Thr1690=)
n.5453C>A
c.2259C>A (p.Thr753=)
n.5451C>A
14g.91273535G>ACA7308717CCDC88Cc.5177C>T (p.Thr1726Ile)
c.749C>T (p.Thr250Ile)
n.989C>T
c.1405C>T
c.5069C>T (p.Thr1690Ile)
n.5452C>T
c.2258C>T (p.Thr753Ile)
n.5450C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273535G>CCA390610714CCDC88Cc.5177C>G (p.Thr1726Ser)
c.749C>G (p.Thr250Ser)
n.989C>G
c.1405C>G
c.5069C>G (p.Thr1690Ser)
n.5452C>G
c.2258C>G (p.Thr753Ser)
n.5450C>G
 gnomAD v4
14g.91273535G=CA2154902640CCDC88Cc.5177C= (p.Thr1726=)
c.749C= (p.Thr250=)
n.989C=
c.1405C=
c.5069C= (p.Thr1690=)
n.5452C=
c.2258C= (p.Thr753=)
n.5450C=
14g.91273535G>TCA265518508CCDC88Cc.5177C>A (p.Thr1726Asn)
c.749C>A (p.Thr250Asn)
n.989C>A
c.1405C>A
c.5069C>A (p.Thr1690Asn)
n.5452C>A
c.2258C>A (p.Thr753Asn)
n.5450C>A
 dbSNP gnomAD v4
14g.91273536T>ACA390610715CCDC88Cc.5176A>T (p.Thr1726Ser)
c.748A>T (p.Thr250Ser)
n.988A>T
c.1404A>T
c.5068A>T (p.Thr1690Ser)
n.5451A>T
c.2257A>T (p.Thr753Ser)
n.5449A>T
14g.91273536T>CCA390610717CCDC88Cc.5176A>G (p.Thr1726Ala)
c.748A>G (p.Thr250Ala)
n.988A>G
c.1404A>G
c.5068A>G (p.Thr1690Ala)
n.5451A>G
c.2257A>G (p.Thr753Ala)
n.5449A>G
 gnomAD v4
14g.91273536T>GCA390610716CCDC88Cc.5176A>C (p.Thr1726Pro)
c.748A>C (p.Thr250Pro)
n.988A>C
c.1404A>C
c.5068A>C (p.Thr1690Pro)
n.5451A>C
c.2257A>C (p.Thr753Pro)
n.5449A>C
 dbSNP
14g.91273536T=CA2154902644CCDC88Cc.5176A= (p.Thr1726=)
c.748A= (p.Thr250=)
n.988A=
c.1404A=
c.5068A= (p.Thr1690=)
n.5451A=
c.2257A= (p.Thr753=)
n.5449A=
14g.91273537G>ACA487829332CCDC88Cc.5175C>T (p.Pro1725=)
c.747C>T (p.Pro249=)
n.987C>T
c.1403C>T
c.5067C>T (p.Pro1689=)
n.5450C>T
c.2256C>T (p.Pro752=)
n.5448C>T
 gnomAD v4
14g.91273537G>CCA487829333CCDC88Cc.5175C>G (p.Pro1725=)
c.747C>G (p.Pro249=)
n.987C>G
c.1403C>G
c.5067C>G (p.Pro1689=)
n.5450C>G
c.2256C>G (p.Pro752=)
n.5448C>G
14g.91273537G>TCA487829334CCDC88Cc.5175C>A (p.Pro1725=)
c.747C>A (p.Pro249=)
n.987C>A
c.1403C>A
c.5067C>A (p.Pro1689=)
n.5450C>A
c.2256C>A (p.Pro752=)
n.5448C>A
 gnomAD v4
14g.91273539delCA2626123447CCDC88Cc.5175del (p.Thr1726ProfsTer20)
c.747del (p.Thr250ProfsTer20)
n.987del
c.1403del
c.5067del (p.Thr1690ProfsTer20)
n.5450del
c.2256del (p.Thr753ProfsTer20)
n.5448del
 gnomAD v4
14g.91273538G>ACA390610718CCDC88Cc.5174C>T (p.Pro1725Leu)
c.746C>T (p.Pro249Leu)
n.986C>T
c.1402C>T
c.5066C>T (p.Pro1689Leu)
n.5449C>T
c.2255C>T (p.Pro752Leu)
n.5447C>T
 gnomAD v4
14g.91273538G>CCA390610719CCDC88Cc.5174C>G (p.Pro1725Arg)
c.746C>G (p.Pro249Arg)
n.986C>G
c.1402C>G
c.5066C>G (p.Pro1689Arg)
n.5449C>G
c.2255C>G (p.Pro752Arg)
n.5447C>G
14g.91273538G>TCA390610720CCDC88Cc.5174C>A (p.Pro1725His)
c.746C>A (p.Pro249His)
n.986C>A
c.1402C>A
c.5066C>A (p.Pro1689His)
n.5449C>A
c.2255C>A (p.Pro752His)
n.5447C>A
 gnomAD v4
14g.91273539G>ACA390610721CCDC88Cc.5173C>T (p.Pro1725Ser)
c.745C>T (p.Pro249Ser)
n.985C>T
c.1401C>T
c.5065C>T (p.Pro1689Ser)
n.5448C>T
c.2254C>T (p.Pro752Ser)
n.5446C>T
 gnomAD v4
14g.91273539G>CCA390610722CCDC88Cc.5173C>G (p.Pro1725Ala)
c.745C>G (p.Pro249Ala)
n.985C>G
c.1401C>G
c.5065C>G (p.Pro1689Ala)
n.5448C>G
c.2254C>G (p.Pro752Ala)
n.5446C>G
14g.91273539G>TCA390610723CCDC88Cc.5173C>A (p.Pro1725Thr)
c.745C>A (p.Pro249Thr)
n.985C>A
c.1401C>A
c.5065C>A (p.Pro1689Thr)
n.5448C>A
c.2254C>A (p.Pro752Thr)
n.5446C>A
14g.91273540C>ACA265518515CCDC88Cc.5172G>T (p.Met1724Ile)
c.744G>T (p.Met248Ile)
n.984G>T
c.1400G>T
c.5064G>T (p.Met1688Ile)
n.5447G>T
c.2253G>T (p.Met751Ile)
n.5445G>T
 dbSNP gnomAD v2 gnomAD v4
14g.91273540C=CA2154902655CCDC88Cc.5172G= (p.Met1724=)
c.744G= (p.Met248=)
n.984G=
c.1400G=
c.5064G= (p.Met1688=)
n.5447G=
c.2253G= (p.Met751=)
n.5445G=
14g.91273540C>GCA390610724CCDC88Cc.5172G>C (p.Met1724Ile)
c.744G>C (p.Met248Ile)
n.984G>C
c.1400G>C
c.5064G>C (p.Met1688Ile)
n.5447G>C
c.2253G>C (p.Met751Ile)
n.5445G>C
 dbSNP
14g.91273540C>TCA390610725CCDC88Cc.5172G>A (p.Met1724Ile)
c.744G>A (p.Met248Ile)
n.984G>A
c.1400G>A
c.5064G>A (p.Met1688Ile)
n.5447G>A
c.2253G>A (p.Met751Ile)
n.5445G>A
 gnomAD v4
14g.91273541A>CCA390610726CCDC88Cc.5171T>G (p.Met1724Arg)
c.743T>G (p.Met248Arg)
n.983T>G
c.1399T>G
c.5063T>G (p.Met1688Arg)
n.5446T>G
c.2252T>G (p.Met751Arg)
n.5444T>G
14g.91273541A>GCA390610727CCDC88Cc.5171T>C (p.Met1724Thr)
c.743T>C (p.Met248Thr)
n.983T>C
c.1399T>C
c.5063T>C (p.Met1688Thr)
n.5446T>C
c.2252T>C (p.Met751Thr)
n.5444T>C
14g.91273541A>TCA390610728CCDC88Cc.5171T>A (p.Met1724Lys)
c.743T>A (p.Met248Lys)
n.983T>A
c.1399T>A
c.5063T>A (p.Met1688Lys)
n.5446T>A
c.2252T>A (p.Met751Lys)
n.5444T>A
14g.91273542T>ACA390610731CCDC88Cc.5170A>T (p.Met1724Leu)
c.742A>T (p.Met248Leu)
n.982A>T
c.1398A>T
c.5062A>T (p.Met1688Leu)
n.5445A>T
c.2251A>T (p.Met751Leu)
n.5443A>T
14g.91273542T>CCA390610729CCDC88Cc.5170A>G (p.Met1724Val)
c.742A>G (p.Met248Val)
n.982A>G
c.1398A>G
c.5062A>G (p.Met1688Val)
n.5445A>G
c.2251A>G (p.Met751Val)
n.5443A>G
 dbSNP gnomAD v2 gnomAD v4
14g.91273542T>GCA390610730CCDC88Cc.5170A>C (p.Met1724Leu)
c.742A>C (p.Met248Leu)
n.982A>C
c.1398A>C
c.5062A>C (p.Met1688Leu)
n.5445A>C
c.2251A>C (p.Met751Leu)
n.5443A>C
14g.91273542T=CA2154902662CCDC88Cc.5170A= (p.Met1724=)
c.742A= (p.Met248=)
n.982A=
c.1398A=
c.5062A= (p.Met1688=)
n.5445A=
c.2251A= (p.Met751=)
n.5443A=
14g.91273543C>ACA390610732CCDC88Cc.5169G>T (p.Lys1723Asn)
c.741G>T (p.Lys247Asn)
n.981G>T
c.1397G>T
c.5061G>T (p.Lys1687Asn)
n.5444G>T
c.2250G>T (p.Lys750Asn)
n.5442G>T
 gnomAD v4
14g.91273543C=CA2154902666CCDC88Cc.5169G= (p.Lys1723=)
c.741G= (p.Lys247=)
n.981G=
c.1397G=
c.5061G= (p.Lys1687=)
n.5444G=
c.2250G= (p.Lys750=)
n.5442G=
14g.91273543C>GCA390610733CCDC88Cc.5169G>C (p.Lys1723Asn)
c.741G>C (p.Lys247Asn)
n.981G>C
c.1397G>C
c.5061G>C (p.Lys1687Asn)
n.5444G>C
c.2250G>C (p.Lys750Asn)
n.5442G>C
14g.91273543C>TCA487829335CCDC88Cc.5169G>A (p.Lys1723=)
c.741G>A (p.Lys247=)
n.981G>A
c.1397G>A
c.5061G>A (p.Lys1687=)
n.5444G>A
c.2250G>A (p.Lys750=)
n.5442G>A
 dbSNP gnomAD v4
14g.91273544T>ACA390610734CCDC88Cc.5168A>T (p.Lys1723Met)
c.740A>T (p.Lys247Met)
n.980A>T
c.1396A>T
c.5060A>T (p.Lys1687Met)
n.5443A>T
c.2249A>T (p.Lys750Met)
n.5441A>T
14g.91273544T>CCA390610735CCDC88Cc.5168A>G (p.Lys1723Arg)
c.740A>G (p.Lys247Arg)
n.980A>G
c.1396A>G
c.5060A>G (p.Lys1687Arg)
n.5443A>G
c.2249A>G (p.Lys750Arg)
n.5441A>G
 gnomAD v4
14g.91273544T>GCA390610736CCDC88Cc.5168A>C (p.Lys1723Thr)
c.740A>C (p.Lys247Thr)
n.980A>C
c.1396A>C
c.5060A>C (p.Lys1687Thr)
n.5443A>C
c.2249A>C (p.Lys750Thr)
n.5441A>C
14g.91273545T>ACA390610737CCDC88Cc.5167A>T (p.Lys1723Ter)
c.739A>T (p.Lys247Ter)
n.979A>T
c.1395A>T
c.5059A>T (p.Lys1687Ter)
n.5442A>T
c.2248A>T (p.Lys750Ter)
n.5440A>T
14g.91273545T>CCA390610738CCDC88Cc.5167A>G (p.Lys1723Glu)
c.739A>G (p.Lys247Glu)
n.979A>G
c.1395A>G
c.5059A>G (p.Lys1687Glu)
n.5442A>G
c.2248A>G (p.Lys750Glu)
n.5440A>G
 dbSNP gnomAD v3 gnomAD v4
14g.91273545T>GCA390610739CCDC88Cc.5167A>C (p.Lys1723Gln)
c.739A>C (p.Lys247Gln)
n.979A>C
c.1395A>C
c.5059A>C (p.Lys1687Gln)
n.5442A>C
c.2248A>C (p.Lys750Gln)
n.5440A>C
14g.91273545T=CA2154902670CCDC88Cc.5167A= (p.Lys1723=)
c.739A= (p.Lys247=)
n.979A=
c.1395A=
c.5059A= (p.Lys1687=)
n.5442A=
c.2248A= (p.Lys750=)
n.5440A=
14g.91273546G>ACA487829338CCDC88Cc.5166C>T (p.Ala1722=)
c.738C>T (p.Ala246=)
n.978C>T
c.1394C>T
c.5058C>T (p.Ala1686=)
n.5441C>T
c.2247C>T (p.Ala749=)
n.5439C>T
 gnomAD v4
14g.91273546G>CCA487829337CCDC88Cc.5166C>G (p.Ala1722=)
c.738C>G (p.Ala246=)
n.978C>G
c.1394C>G
c.5058C>G (p.Ala1686=)
n.5441C>G
c.2247C>G (p.Ala749=)
n.5439C>G
 gnomAD v4
14g.91273546G>TCA487829336CCDC88Cc.5166C>A (p.Ala1722=)
c.738C>A (p.Ala246=)
n.978C>A
c.1394C>A
c.5058C>A (p.Ala1686=)
n.5441C>A
c.2247C>A (p.Ala749=)
n.5439C>A
 gnomAD v4
14g.91273547G>ACA390610740CCDC88Cc.5165C>T (p.Ala1722Val)
c.737C>T (p.Ala246Val)
n.977C>T
c.1393C>T
c.5057C>T (p.Ala1686Val)
n.5440C>T
c.2246C>T (p.Ala749Val)
n.5438C>T
 gnomAD v4
14g.91273547G>CCA390610741CCDC88Cc.5165C>G (p.Ala1722Gly)
c.737C>G (p.Ala246Gly)
n.977C>G
c.1393C>G
c.5057C>G (p.Ala1686Gly)
n.5440C>G
c.2246C>G (p.Ala749Gly)
n.5438C>G
14g.91273547G=CA2154902673CCDC88Cc.5165C= (p.Ala1722=)
c.737C= (p.Ala246=)
n.977C=
c.1393C=
c.5057C= (p.Ala1686=)
n.5440C=
c.2246C= (p.Ala749=)
n.5438C=
14g.91273547G>TCA390610742CCDC88Cc.5165C>A (p.Ala1722Asp)
c.737C>A (p.Ala246Asp)
n.977C>A
c.1393C>A
c.5057C>A (p.Ala1686Asp)
n.5440C>A
c.2246C>A (p.Ala749Asp)
n.5438C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273548C>ACA390610745CCDC88Cc.5164G>T (p.Ala1722Ser)
c.736G>T (p.Ala246Ser)
n.976G>T
c.1392G>T
c.5056G>T (p.Ala1686Ser)
n.5439G>T
c.2245G>T (p.Ala749Ser)
n.5437G>T
 gnomAD v4
14g.91273548C>GCA390610744CCDC88Cc.5164G>C (p.Ala1722Pro)
c.736G>C (p.Ala246Pro)
n.976G>C
c.1392G>C
c.5056G>C (p.Ala1686Pro)
n.5439G>C
c.2245G>C (p.Ala749Pro)
n.5437G>C
14g.91273548C>TCA390610743CCDC88Cc.5164G>A (p.Ala1722Thr)
c.736G>A (p.Ala246Thr)
n.976G>A
c.1392G>A
c.5056G>A (p.Ala1686Thr)
n.5439G>A
c.2245G>A (p.Ala749Thr)
n.5437G>A
 COSMIC COSMIC COSMIC
14g.91273549C>ACA487829339CCDC88Cc.5163G>T (p.Gly1721=)
c.735G>T (p.Gly245=)
n.975G>T
c.1391G>T
c.5055G>T (p.Gly1685=)
n.5438G>T
c.2244G>T (p.Gly748=)
n.5436G>T
 gnomAD v4
14g.91273549C=CA2154902678CCDC88Cc.5163G= (p.Gly1721=)
c.735G= (p.Gly245=)
n.975G=
c.1391G=
c.5055G= (p.Gly1685=)
n.5438G=
c.2244G= (p.Gly748=)
n.5436G=
14g.91273549C>GCA487829340CCDC88Cc.5163G>C (p.Gly1721=)
c.735G>C (p.Gly245=)
n.975G>C
c.1391G>C
c.5055G>C (p.Gly1685=)
n.5438G>C
c.2244G>C (p.Gly748=)
n.5436G>C
14g.91273549C>TCA7308718CCDC88Cc.5163G>A (p.Gly1721=)
c.735G>A (p.Gly245=)
n.975G>A
c.1391G>A
c.5055G>A (p.Gly1685=)
n.5438G>A
c.2244G>A (p.Gly748=)
n.5436G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273550C>ACA390610746CCDC88Cc.5162G>T (p.Gly1721Val)
c.734G>T (p.Gly245Val)
n.974G>T
c.1390G>T
c.5054G>T (p.Gly1685Val)
n.5437G>T
c.2243G>T (p.Gly748Val)
n.5435G>T
 gnomAD v4
14g.91273550C>GCA390610747CCDC88Cc.5162G>C (p.Gly1721Ala)
c.734G>C (p.Gly245Ala)
n.974G>C
c.1390G>C
c.5054G>C (p.Gly1685Ala)
n.5437G>C
c.2243G>C (p.Gly748Ala)
n.5435G>C
14g.91273550C>TCA390610748CCDC88Cc.5162G>A (p.Gly1721Glu)
c.734G>A (p.Gly245Glu)
n.974G>A
c.1390G>A
c.5054G>A (p.Gly1685Glu)
n.5437G>A
c.2243G>A (p.Gly748Glu)
n.5435G>A
 gnomAD v4
14g.91273550_91273553delinsCCTTCA2154902680CCDC88Cc.5159_5162delinsAAGG (p.Glu1720=)
c.731_734delinsAAGG (p.Glu244=)
n.971_974delinsAAGG
c.1387_1390delinsAAGG
c.5051_5054delinsAAGG (p.Glu1684=)
n.5434_5437delinsAAGG
c.2240_2243delinsAAGG (p.Glu747=)
n.5432_5435delinsAAGG
14g.91273551C>ACA390610749CCDC88Cc.5161G>T (p.Gly1721Trp)
c.733G>T (p.Gly245Trp)
n.973G>T
c.1389G>T
c.5053G>T (p.Gly1685Trp)
n.5436G>T
c.2242G>T (p.Gly748Trp)
n.5434G>T
 gnomAD v4
14g.91273551C=CA2154902684CCDC88Cc.5161G= (p.Gly1721=)
c.733G= (p.Gly245=)
n.973G=
c.1389G=
c.5053G= (p.Gly1685=)
n.5436G=
c.2242G= (p.Gly748=)
n.5434G=
14g.91273551C>GCA390610750CCDC88Cc.5161G>C (p.Gly1721Arg)
c.733G>C (p.Gly245Arg)
n.973G>C
c.1389G>C
c.5053G>C (p.Gly1685Arg)
n.5436G>C
c.2242G>C (p.Gly748Arg)
n.5434G>C
14g.91273551C>TCA7308720CCDC88Cc.5161G>A (p.Gly1721Arg)
c.733G>A (p.Gly245Arg)
n.973G>A
c.1389G>A
c.5053G>A (p.Gly1685Arg)
n.5436G>A
c.2242G>A (p.Gly748Arg)
n.5434G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273554_91273556delCA7308719CCDC88Cc.5159_5161del (p.Glu1720del)
c.731_733del (p.Glu244del)
n.971_973del
c.1387_1389del
c.5051_5053del (p.Glu1684del)
n.5434_5436del
c.2240_2242del (p.Glu747del)
n.5432_5434del
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273552T>ACA390610751CCDC88Cc.5160A>T (p.Glu1720Asp)
c.732A>T (p.Glu244Asp)
n.972A>T
c.1388A>T
c.5052A>T (p.Glu1684Asp)
n.5435A>T
c.2241A>T (p.Glu747Asp)
n.5433A>T
14g.91273552T>CCA487829341CCDC88Cc.5160A>G (p.Glu1720=)
c.732A>G (p.Glu244=)
n.972A>G
c.1388A>G
c.5052A>G (p.Glu1684=)
n.5435A>G
c.2241A>G (p.Glu747=)
n.5433A>G
14g.91273552T>GCA390610752CCDC88Cc.5160A>C (p.Glu1720Asp)
c.732A>C (p.Glu244Asp)
n.972A>C
c.1388A>C
c.5052A>C (p.Glu1684Asp)
n.5435A>C
c.2241A>C (p.Glu747Asp)
n.5433A>C
14g.91273553T>ACA390610753CCDC88Cc.5159A>T (p.Glu1720Val)
c.731A>T (p.Glu244Val)
n.971A>T
c.1387A>T
c.5051A>T (p.Glu1684Val)
n.5434A>T
c.2240A>T (p.Glu747Val)
n.5432A>T
14g.91273553T>CCA390610754CCDC88Cc.5159A>G (p.Glu1720Gly)
c.731A>G (p.Glu244Gly)
n.971A>G
c.1387A>G
c.5051A>G (p.Glu1684Gly)
n.5434A>G
c.2240A>G (p.Glu747Gly)
n.5432A>G
14g.91273553T>GCA390610755CCDC88Cc.5159A>C (p.Glu1720Ala)
c.731A>C (p.Glu244Ala)
n.971A>C
c.1387A>C
c.5051A>C (p.Glu1684Ala)
n.5434A>C
c.2240A>C (p.Glu747Ala)
n.5432A>C
14g.91273554C>ACA390610758CCDC88Cc.5158G>T (p.Glu1720Ter)
c.730G>T (p.Glu244Ter)
n.970G>T
c.1386G>T
c.5050G>T (p.Glu1684Ter)
n.5433G>T
c.2239G>T (p.Glu747Ter)
n.5431G>T
14g.91273554C>GCA390610756CCDC88Cc.5158G>C (p.Glu1720Gln)
c.730G>C (p.Glu244Gln)
n.970G>C
c.1386G>C
c.5050G>C (p.Glu1684Gln)
n.5433G>C
c.2239G>C (p.Glu747Gln)
n.5431G>C
14g.91273554C>TCA390610757CCDC88Cc.5158G>A (p.Glu1720Lys)
c.730G>A (p.Glu244Lys)
n.970G>A
c.1386G>A
c.5050G>A (p.Glu1684Lys)
n.5433G>A
c.2239G>A (p.Glu747Lys)
n.5431G>A
 COSMIC COSMIC COSMIC
14g.91273555T>ACA390610759CCDC88Cc.5157A>T (p.Lys1719Asn)
c.729A>T (p.Lys243Asn)
n.969A>T
c.1385A>T
c.5049A>T (p.Lys1683Asn)
n.5432A>T
c.2238A>T (p.Lys746Asn)
n.5430A>T
14g.91273555T>CCA487829342CCDC88Cc.5157A>G (p.Lys1719=)
c.729A>G (p.Lys243=)
n.969A>G
c.1385A>G
c.5049A>G (p.Lys1683=)
n.5432A>G
c.2238A>G (p.Lys746=)
n.5430A>G
 gnomAD v4
14g.91273555T>GCA390610760CCDC88Cc.5157A>C (p.Lys1719Asn)
c.729A>C (p.Lys243Asn)
n.969A>C
c.1385A>C
c.5049A>C (p.Lys1683Asn)
n.5432A>C
c.2238A>C (p.Lys746Asn)
n.5430A>C
14g.91273556T>ACA390610761CCDC88Cc.5156A>T (p.Lys1719Ile)
c.728A>T (p.Lys243Ile)
n.968A>T
c.1384A>T
c.5048A>T (p.Lys1683Ile)
n.5431A>T
c.2237A>T (p.Lys746Ile)
n.5429A>T
14g.91273556T>CCA390610762CCDC88Cc.5156A>G (p.Lys1719Arg)
c.728A>G (p.Lys243Arg)
n.968A>G
c.1384A>G
c.5048A>G (p.Lys1683Arg)
n.5431A>G
c.2237A>G (p.Lys746Arg)
n.5429A>G
14g.91273556T>GCA390610763CCDC88Cc.5156A>C (p.Lys1719Thr)
c.728A>C (p.Lys243Thr)
n.968A>C
c.1384A>C
c.5048A>C (p.Lys1683Thr)
n.5431A>C
c.2237A>C (p.Lys746Thr)
n.5429A>C
 COSMIC COSMIC COSMIC
14g.91273557T>ACA390610764CCDC88Cc.5155A>T (p.Lys1719Ter)
c.727A>T (p.Lys243Ter)
n.967A>T
c.1383A>T
c.5047A>T (p.Lys1683Ter)
n.5430A>T
c.2236A>T (p.Lys746Ter)
n.5428A>T
14g.91273557T>CCA390610765CCDC88Cc.5155A>G (p.Lys1719Glu)
c.727A>G (p.Lys243Glu)
n.967A>G
c.1383A>G
c.5047A>G (p.Lys1683Glu)
n.5430A>G
c.2236A>G (p.Lys746Glu)
n.5428A>G
14g.91273557T>GCA390610766CCDC88Cc.5155A>C (p.Lys1719Gln)
c.727A>C (p.Lys243Gln)
n.967A>C
c.1383A>C
c.5047A>C (p.Lys1683Gln)
n.5430A>C
c.2236A>C (p.Lys746Gln)
n.5428A>C
 gnomAD v4
14g.91273558C>ACA390610767CCDC88Cc.5154G>T (p.Lys1718Asn)
c.726G>T (p.Lys242Asn)
n.966G>T
c.1382G>T
c.5046G>T (p.Lys1682Asn)
n.5429G>T
c.2235G>T (p.Lys745Asn)
n.5427G>T
14g.91273558C>GCA390610768CCDC88Cc.5154G>C (p.Lys1718Asn)
c.726G>C (p.Lys242Asn)
n.966G>C
c.1382G>C
c.5046G>C (p.Lys1682Asn)
n.5429G>C
c.2235G>C (p.Lys745Asn)
n.5427G>C
14g.91273558C>TCA487829343CCDC88Cc.5154G>A (p.Lys1718=)
c.726G>A (p.Lys242=)
n.966G>A
c.1382G>A
c.5046G>A (p.Lys1682=)
n.5429G>A
c.2235G>A (p.Lys745=)
n.5427G>A
14g.91273559T>ACA390610769CCDC88Cc.5153A>T (p.Lys1718Met)
c.725A>T (p.Lys242Met)
n.965A>T
c.1381A>T
c.5045A>T (p.Lys1682Met)
n.5428A>T
c.2234A>T (p.Lys745Met)
n.5426A>T
14g.91273559T>CCA390610770CCDC88Cc.5153A>G (p.Lys1718Arg)
c.725A>G (p.Lys242Arg)
n.965A>G
c.1381A>G
c.5045A>G (p.Lys1682Arg)
n.5428A>G
c.2234A>G (p.Lys745Arg)
n.5426A>G
 gnomAD v4
14g.91273559T>GCA390610771CCDC88Cc.5153A>C (p.Lys1718Thr)
c.725A>C (p.Lys242Thr)
n.965A>C
c.1381A>C
c.5045A>C (p.Lys1682Thr)
n.5428A>C
c.2234A>C (p.Lys745Thr)
n.5426A>C
 gnomAD v4
14g.91273560T>ACA390610773CCDC88Cc.5152A>T (p.Lys1718Ter)
c.724A>T (p.Lys242Ter)
n.964A>T
c.1380A>T
c.5044A>T (p.Lys1682Ter)
n.5427A>T
c.2233A>T (p.Lys745Ter)
n.5425A>T
14g.91273560T>CCA390610774CCDC88Cc.5152A>G (p.Lys1718Glu)
c.724A>G (p.Lys242Glu)
n.964A>G
c.1380A>G
c.5044A>G (p.Lys1682Glu)
n.5427A>G
c.2233A>G (p.Lys745Glu)
n.5425A>G
14g.91273560T>GCA390610772CCDC88Cc.5152A>C (p.Lys1718Gln)
c.724A>C (p.Lys242Gln)
n.964A>C
c.1380A>C
c.5044A>C (p.Lys1682Gln)
n.5427A>C
c.2233A>C (p.Lys745Gln)
n.5425A>C
14g.91273561G>ACA487829346CCDC88Cc.5151C>T (p.Ala1717=)
c.723C>T (p.Ala241=)
n.963C>T
c.1379C>T
c.5043C>T (p.Ala1681=)
n.5426C>T
c.2232C>T (p.Ala744=)
n.5424C>T
 ClinVar dbSNP
14g.91273561G>CCA487829345CCDC88Cc.5151C>G (p.Ala1717=)
c.723C>G (p.Ala241=)
n.963C>G
c.1379C>G
c.5043C>G (p.Ala1681=)
n.5426C>G
c.2232C>G (p.Ala744=)
n.5424C>G
14g.91273561G=CA2154902693CCDC88Cc.5151C= (p.Ala1717=)
c.723C= (p.Ala241=)
n.963C=
c.1379C=
c.5043C= (p.Ala1681=)
n.5426C=
c.2232C= (p.Ala744=)
n.5424C=
14g.91273561G>TCA487829344CCDC88Cc.5151C>A (p.Ala1717=)
c.723C>A (p.Ala241=)
n.963C>A
c.1379C>A
c.5043C>A (p.Ala1681=)
n.5426C>A
c.2232C>A (p.Ala744=)
n.5424C>A
 gnomAD v4
14g.91273562G>ACA7308721CCDC88Cc.5150C>T (p.Ala1717Val)
c.722C>T (p.Ala241Val)
n.962C>T
c.1378C>T
c.5042C>T (p.Ala1681Val)
n.5425C>T
c.2231C>T (p.Ala744Val)
n.5423C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273562G>CCA390610775CCDC88Cc.5150C>G (p.Ala1717Gly)
c.722C>G (p.Ala241Gly)
n.962C>G
c.1378C>G
c.5042C>G (p.Ala1681Gly)
n.5425C>G
c.2231C>G (p.Ala744Gly)
n.5423C>G
14g.91273562G=CA2154902697CCDC88Cc.5150C= (p.Ala1717=)
c.722C= (p.Ala241=)
n.962C=
c.1378C=
c.5042C= (p.Ala1681=)
n.5425C=
c.2231C= (p.Ala744=)
n.5423C=
14g.91273562G>TCA390610776CCDC88Cc.5150C>A (p.Ala1717Asp)
c.722C>A (p.Ala241Asp)
n.962C>A
c.1378C>A
c.5042C>A (p.Ala1681Asp)
n.5425C>A
c.2231C>A (p.Ala744Asp)
n.5423C>A
14g.91273563C>ACA390610777CCDC88Cc.5149G>T (p.Ala1717Ser)
c.721G>T (p.Ala241Ser)
n.961G>T
c.1377G>T
c.5041G>T (p.Ala1681Ser)
n.5424G>T
c.2230G>T (p.Ala744Ser)
n.5422G>T
 gnomAD v4
14g.91273563C=CA2154902701CCDC88Cc.5149G= (p.Ala1717=)
c.721G= (p.Ala241=)
n.961G=
c.1377G=
c.5041G= (p.Ala1681=)
n.5424G=
c.2230G= (p.Ala744=)
n.5422G=
14g.91273563C>GCA390610778CCDC88Cc.5149G>C (p.Ala1717Pro)
c.721G>C (p.Ala241Pro)
n.961G>C
c.1377G>C
c.5041G>C (p.Ala1681Pro)
n.5424G>C
c.2230G>C (p.Ala744Pro)
n.5422G>C
14g.91273563C>TCA390610779CCDC88Cc.5149G>A (p.Ala1717Thr)
c.721G>A (p.Ala241Thr)
n.961G>A
c.1377G>A
c.5041G>A (p.Ala1681Thr)
n.5424G>A
c.2230G>A (p.Ala744Thr)
n.5422G>A
 dbSNP gnomAD v3 gnomAD v4
14g.91273564A>CCA487829347CCDC88Cc.5148T>G (p.Pro1716=)
c.720T>G (p.Pro240=)
n.960T>G
c.1376T>G
c.5040T>G (p.Pro1680=)
n.5423T>G
c.2229T>G (p.Pro743=)
n.5421T>G
 gnomAD v4
14g.91273564A>GCA487829348CCDC88Cc.5148T>C (p.Pro1716=)
c.720T>C (p.Pro240=)
n.960T>C
c.1376T>C
c.5040T>C (p.Pro1680=)
n.5423T>C
c.2229T>C (p.Pro743=)
n.5421T>C
14g.91273564A>TCA487829349CCDC88Cc.5148T>A (p.Pro1716=)
c.720T>A (p.Pro240=)
n.960T>A
c.1376T>A
c.5040T>A (p.Pro1680=)
n.5423T>A
c.2229T>A (p.Pro743=)
n.5421T>A
14g.91273565G>ACA7308722CCDC88Cc.5147C>T (p.Pro1716Leu)
c.719C>T (p.Pro240Leu)
n.959C>T
c.1375C>T
c.5039C>T (p.Pro1680Leu)
n.5422C>T
c.2228C>T (p.Pro743Leu)
n.5420C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273565G>CCA390610780CCDC88Cc.5147C>G (p.Pro1716Arg)
c.719C>G (p.Pro240Arg)
n.959C>G
c.1375C>G
c.5039C>G (p.Pro1680Arg)
n.5422C>G
c.2228C>G (p.Pro743Arg)
n.5420C>G
14g.91273565G=CA2154902705CCDC88Cc.5147C= (p.Pro1716=)
c.719C= (p.Pro240=)
n.959C=
c.1375C=
c.5039C= (p.Pro1680=)
n.5422C=
c.2228C= (p.Pro743=)
n.5420C=
14g.91273565G>TCA390610781CCDC88Cc.5147C>A (p.Pro1716His)
c.719C>A (p.Pro240His)
n.959C>A
c.1375C>A
c.5039C>A (p.Pro1680His)
n.5422C>A
c.2228C>A (p.Pro743His)
n.5420C>A
14g.91273566G>ACA390610784CCDC88Cc.5146C>T (p.Pro1716Ser)
c.718C>T (p.Pro240Ser)
n.958C>T
c.1374C>T
c.5038C>T (p.Pro1680Ser)
n.5421C>T
c.2227C>T (p.Pro743Ser)
n.5419C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273566G>CCA390610783CCDC88Cc.5146C>G (p.Pro1716Ala)
c.718C>G (p.Pro240Ala)
n.958C>G
c.1374C>G
c.5038C>G (p.Pro1680Ala)
n.5421C>G
c.2227C>G (p.Pro743Ala)
n.5419C>G
14g.91273566G=CA2154902707CCDC88Cc.5146C= (p.Pro1716=)
c.718C= (p.Pro240=)
n.958C=
c.1374C=
c.5038C= (p.Pro1680=)
n.5421C=
c.2227C= (p.Pro743=)
n.5419C=
14g.91273566G>TCA390610782CCDC88Cc.5146C>A (p.Pro1716Thr)
c.718C>A (p.Pro240Thr)
n.958C>A
c.1374C>A
c.5038C>A (p.Pro1680Thr)
n.5421C>A
c.2227C>A (p.Pro743Thr)
n.5419C>A
14g.91273567T>ACA487829351CCDC88Cc.5145A>T (p.Pro1715=)
c.717A>T (p.Pro239=)
n.957A>T
c.1373A>T
c.5037A>T (p.Pro1679=)
n.5420A>T
c.2226A>T (p.Pro742=)
n.5418A>T
14g.91273567T>CCA487829350CCDC88Cc.5145A>G (p.Pro1715=)
c.717A>G (p.Pro239=)
n.957A>G
c.1373A>G
c.5037A>G (p.Pro1679=)
n.5420A>G
c.2226A>G (p.Pro742=)
n.5418A>G
14g.91273567T>GCA7308723CCDC88Cc.5145A>C (p.Pro1715=)
c.717A>C (p.Pro239=)
n.957A>C
c.1373A>C
c.5037A>C (p.Pro1679=)
n.5420A>C
c.2226A>C (p.Pro742=)
n.5418A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273567T=CA2154902710CCDC88Cc.5145A= (p.Pro1715=)
c.717A= (p.Pro239=)
n.957A=
c.1373A=
c.5037A= (p.Pro1679=)
n.5420A=
c.2226A= (p.Pro742=)
n.5418A=
14g.91273568G>ACA390610785CCDC88Cc.5144C>T (p.Pro1715Leu)
c.716C>T (p.Pro239Leu)
n.956C>T
c.1372C>T
c.5036C>T (p.Pro1679Leu)
n.5419C>T
c.2225C>T (p.Pro742Leu)
n.5417C>T
 gnomAD v4
14g.91273568G>CCA390610786CCDC88Cc.5144C>G (p.Pro1715Arg)
c.716C>G (p.Pro239Arg)
n.956C>G
c.1372C>G
c.5036C>G (p.Pro1679Arg)
n.5419C>G
c.2225C>G (p.Pro742Arg)
n.5417C>G
 gnomAD v4
14g.91273568G>TCA390610787CCDC88Cc.5144C>A (p.Pro1715Gln)
c.716C>A (p.Pro239Gln)
n.956C>A
c.1372C>A
c.5036C>A (p.Pro1679Gln)
n.5419C>A
c.2225C>A (p.Pro742Gln)
n.5417C>A
 gnomAD v4
14g.91273569G>ACA390610788CCDC88Cc.5143C>T (p.Pro1715Ser)
c.715C>T (p.Pro239Ser)
n.955C>T
c.1371C>T
c.5035C>T (p.Pro1679Ser)
n.5418C>T
c.2224C>T (p.Pro742Ser)
n.5416C>T
14g.91273569G>CCA390610789CCDC88Cc.5143C>G (p.Pro1715Ala)
c.715C>G (p.Pro239Ala)
n.955C>G
c.1371C>G
c.5035C>G (p.Pro1679Ala)
n.5418C>G
c.2224C>G (p.Pro742Ala)
n.5416C>G
14g.91273569G>TCA390610790CCDC88Cc.5143C>A (p.Pro1715Thr)
c.715C>A (p.Pro239Thr)
n.955C>A
c.1371C>A
c.5035C>A (p.Pro1679Thr)
n.5418C>A
c.2224C>A (p.Pro742Thr)
n.5416C>A
14g.91273570T>ACA487829352CCDC88Cc.5142A>T (p.Gly1714=)
c.714A>T (p.Gly238=)
n.954A>T
c.1370A>T
c.5034A>T (p.Gly1678=)
n.5417A>T
c.2223A>T (p.Gly741=)
n.5415A>T
14g.91273570T>CCA487829353CCDC88Cc.5142A>G (p.Gly1714=)
c.714A>G (p.Gly238=)
n.954A>G
c.1370A>G
c.5034A>G (p.Gly1678=)
n.5417A>G
c.2223A>G (p.Gly741=)
n.5415A>G
 gnomAD v4
14g.91273570T>GCA487829354CCDC88Cc.5142A>C (p.Gly1714=)
c.714A>C (p.Gly238=)
n.954A>C
c.1370A>C
c.5034A>C (p.Gly1678=)
n.5417A>C
c.2223A>C (p.Gly741=)
n.5415A>C
 dbSNP
14g.91273570T=CA2154902713CCDC88Cc.5142A= (p.Gly1714=)
c.714A= (p.Gly238=)
n.954A=
c.1370A=
c.5034A= (p.Gly1678=)
n.5417A=
c.2223A= (p.Gly741=)
n.5415A=
14g.91273571C>ACA390610791CCDC88Cc.5141G>T (p.Gly1714Val)
c.713G>T (p.Gly238Val)
n.953G>T
c.1369G>T
c.5033G>T (p.Gly1678Val)
n.5416G>T
c.2222G>T (p.Gly741Val)
n.5414G>T
14g.91273571C=CA2154902714CCDC88Cc.5141G= (p.Gly1714=)
c.713G= (p.Gly238=)
n.953G=
c.1369G=
c.5033G= (p.Gly1678=)
n.5416G=
c.2222G= (p.Gly741=)
n.5414G=
14g.91273571C>GCA390610792CCDC88Cc.5141G>C (p.Gly1714Ala)
c.713G>C (p.Gly238Ala)
n.953G>C
c.1369G>C
c.5033G>C (p.Gly1678Ala)
n.5416G>C
c.2222G>C (p.Gly741Ala)
n.5414G>C
14g.91273571C>TCA265518576CCDC88Cc.5141G>A (p.Gly1714Glu)
c.713G>A (p.Gly238Glu)
n.953G>A
c.1369G>A
c.5033G>A (p.Gly1678Glu)
n.5416G>A
c.2222G>A (p.Gly741Glu)
n.5414G>A
 dbSNP gnomAD v4
14g.91273572C>ACA390610793CCDC88Cc.5140G>T (p.Gly1714Ter)
c.712G>T (p.Gly238Ter)
n.952G>T
c.1368G>T
c.5032G>T (p.Gly1678Ter)
n.5415G>T
c.2221G>T (p.Gly741Ter)
n.5413G>T
 gnomAD v4
14g.91273572C>GCA390610794CCDC88Cc.5140G>C (p.Gly1714Arg)
c.712G>C (p.Gly238Arg)
n.952G>C
c.1368G>C
c.5032G>C (p.Gly1678Arg)
n.5415G>C
c.2221G>C (p.Gly741Arg)
n.5413G>C
14g.91273572C>TCA390610795CCDC88Cc.5140G>A (p.Gly1714Arg)
c.712G>A (p.Gly238Arg)
n.952G>A
c.1368G>A
c.5032G>A (p.Gly1678Arg)
n.5415G>A
c.2221G>A (p.Gly741Arg)
n.5413G>A
14g.91273573T>ACA487829355CCDC88Cc.5139A>T (p.Pro1713=)
c.711A>T (p.Pro237=)
n.951A>T
c.1367A>T
c.5031A>T (p.Pro1677=)
n.5414A>T
c.2220A>T (p.Pro740=)
n.5412A>T
14g.91273573T>CCA7308724CCDC88Cc.5139A>G (p.Pro1713=)
c.711A>G (p.Pro237=)
n.951A>G
c.1367A>G
c.5031A>G (p.Pro1677=)
n.5414A>G
c.2220A>G (p.Pro740=)
n.5412A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273573T>GCA487829356CCDC88Cc.5139A>C (p.Pro1713=)
c.711A>C (p.Pro237=)
n.951A>C
c.1367A>C
c.5031A>C (p.Pro1677=)
n.5414A>C
c.2220A>C (p.Pro740=)
n.5412A>C
14g.91273573T=CA2154902716CCDC88Cc.5139A= (p.Pro1713=)
c.711A= (p.Pro237=)
n.951A=
c.1367A=
c.5031A= (p.Pro1677=)
n.5414A=
c.2220A= (p.Pro740=)
n.5412A=
14g.91273574G>ACA390610796CCDC88Cc.5138C>T (p.Pro1713Leu)
c.710C>T (p.Pro237Leu)
n.950C>T
c.1366C>T
c.5030C>T (p.Pro1677Leu)
n.5413C>T
c.2219C>T (p.Pro740Leu)
n.5411C>T
14g.91273574G>CCA390610797CCDC88Cc.5138C>G (p.Pro1713Arg)
c.710C>G (p.Pro237Arg)
n.950C>G
c.1366C>G
c.5030C>G (p.Pro1677Arg)
n.5413C>G
c.2219C>G (p.Pro740Arg)
n.5411C>G
14g.91273574G>TCA390610798CCDC88Cc.5138C>A (p.Pro1713Gln)
c.710C>A (p.Pro237Gln)
n.950C>A
c.1366C>A
c.5030C>A (p.Pro1677Gln)
n.5413C>A
c.2219C>A (p.Pro740Gln)
n.5411C>A
 gnomAD v4
14g.91273575G>ACA390610799CCDC88Cc.5137C>T (p.Pro1713Ser)
c.709C>T (p.Pro237Ser)
n.949C>T
c.1365C>T
c.5029C>T (p.Pro1677Ser)
n.5412C>T
c.2218C>T (p.Pro740Ser)
n.5410C>T
 gnomAD v4
14g.91273575G>CCA390610800CCDC88Cc.5137C>G (p.Pro1713Ala)
c.709C>G (p.Pro237Ala)
n.949C>G
c.1365C>G
c.5029C>G (p.Pro1677Ala)
n.5412C>G
c.2218C>G (p.Pro740Ala)
n.5410C>G
14g.91273575G>TCA390610801CCDC88Cc.5137C>A (p.Pro1713Thr)
c.709C>A (p.Pro237Thr)
n.949C>A
c.1365C>A
c.5029C>A (p.Pro1677Thr)
n.5412C>A
c.2218C>A (p.Pro740Thr)
n.5410C>A
14g.91273576T>ACA390610802CCDC88Cc.5136A>T (p.Gln1712His)
c.708A>T (p.Gln236His)
n.948A>T
c.1364A>T
c.5028A>T (p.Gln1676His)
n.5411A>T
c.2217A>T (p.Gln739His)
n.5409A>T
14g.91273576T>CCA487829357CCDC88Cc.5136A>G (p.Gln1712=)
c.708A>G (p.Gln236=)
n.948A>G
c.1364A>G
c.5028A>G (p.Gln1676=)
n.5411A>G
c.2217A>G (p.Gln739=)
n.5409A>G
14g.91273576T>GCA390610803CCDC88Cc.5136A>C (p.Gln1712His)
c.708A>C (p.Gln236His)
n.948A>C
c.1364A>C
c.5028A>C (p.Gln1676His)
n.5411A>C
c.2217A>C (p.Gln739His)
n.5409A>C
14g.91273577T>ACA390610806CCDC88Cc.5135A>T (p.Gln1712Leu)
c.707A>T (p.Gln236Leu)
n.947A>T
c.1363A>T
c.5027A>T (p.Gln1676Leu)
n.5410A>T
c.2216A>T (p.Gln739Leu)
n.5408A>T
 gnomAD v4
14g.91273577T>CCA390610804CCDC88Cc.5135A>G (p.Gln1712Arg)
c.707A>G (p.Gln236Arg)
n.947A>G
c.1363A>G
c.5027A>G (p.Gln1676Arg)
n.5410A>G
c.2216A>G (p.Gln739Arg)
n.5408A>G
14g.91273577T>GCA390610805CCDC88Cc.5135A>C (p.Gln1712Pro)
c.707A>C (p.Gln236Pro)
n.947A>C
c.1363A>C
c.5027A>C (p.Gln1676Pro)
n.5410A>C
c.2216A>C (p.Gln739Pro)
n.5408A>C
14g.91273578G>ACA390610807CCDC88Cc.5134C>T (p.Gln1712Ter)
c.706C>T (p.Gln236Ter)
n.946C>T
c.1362C>T
c.5026C>T (p.Gln1676Ter)
n.5409C>T
c.2215C>T (p.Gln739Ter)
n.5407C>T
 ClinVar dbSNP
14g.91273578G>CCA390610809CCDC88Cc.5134C>G (p.Gln1712Glu)
c.706C>G (p.Gln236Glu)
n.946C>G
c.1362C>G
c.5026C>G (p.Gln1676Glu)
n.5409C>G
c.2215C>G (p.Gln739Glu)
n.5407C>G
14g.91273578G=CA2154902721CCDC88Cc.5134C= (p.Gln1712=)
c.706C= (p.Gln236=)
n.946C=
c.1362C=
c.5026C= (p.Gln1676=)
n.5409C=
c.2215C= (p.Gln739=)
n.5407C=
14g.91273578G>TCA390610808CCDC88Cc.5134C>A (p.Gln1712Lys)
c.706C>A (p.Gln236Lys)
n.946C>A
c.1362C>A
c.5026C>A (p.Gln1676Lys)
n.5409C>A
c.2215C>A (p.Gln739Lys)
n.5407C>A
14g.91273579G>ACA487829358CCDC88Cc.5133C>T (p.Gly1711=)
c.705C>T (p.Gly235=)
n.945C>T
c.1361C>T
c.5025C>T (p.Gly1675=)
n.5408C>T
c.2214C>T (p.Gly738=)
n.5406C>T
 gnomAD v4
14g.91273579G>CCA487829359CCDC88Cc.5133C>G (p.Gly1711=)
c.705C>G (p.Gly235=)
n.945C>G
c.1361C>G
c.5025C>G (p.Gly1675=)
n.5408C>G
c.2214C>G (p.Gly738=)
n.5406C>G
14g.91273579G>TCA487829360CCDC88Cc.5133C>A (p.Gly1711=)
c.705C>A (p.Gly235=)
n.945C>A
c.1361C>A
c.5025C>A (p.Gly1675=)
n.5408C>A
c.2214C>A (p.Gly738=)
n.5406C>A
14g.91273580C>ACA390610810CCDC88Cc.5132G>T (p.Gly1711Val)
c.704G>T (p.Gly235Val)
n.944G>T
c.1360G>T
c.5024G>T (p.Gly1675Val)
n.5407G>T
c.2213G>T (p.Gly738Val)
n.5405G>T
14g.91273580C=CA2154902726CCDC88Cc.5132G= (p.Gly1711=)
c.704G= (p.Gly235=)
n.944G=
c.1360G=
c.5024G= (p.Gly1675=)
n.5407G=
c.2213G= (p.Gly738=)
n.5405G=
14g.91273580C>GCA390610811CCDC88Cc.5132G>C (p.Gly1711Ala)
c.704G>C (p.Gly235Ala)
n.944G>C
c.1360G>C
c.5024G>C (p.Gly1675Ala)
n.5407G>C
c.2213G>C (p.Gly738Ala)
n.5405G>C
14g.91273580C>TCA390610812CCDC88Cc.5132G>A (p.Gly1711Asp)
c.704G>A (p.Gly235Asp)
n.944G>A
c.1360G>A
c.5024G>A (p.Gly1675Asp)
n.5407G>A
c.2213G>A (p.Gly738Asp)
n.5405G>A
 dbSNP gnomAD v4
14g.91273581C>ACA390610813CCDC88Cc.5131G>T (p.Gly1711Cys)
c.703G>T (p.Gly235Cys)
n.943G>T
c.1359G>T
c.5023G>T (p.Gly1675Cys)
n.5406G>T
c.2212G>T (p.Gly738Cys)
n.5404G>T
 gnomAD v4
14g.91273581C>GCA390610814CCDC88Cc.5131G>C (p.Gly1711Arg)
c.703G>C (p.Gly235Arg)
n.943G>C
c.1359G>C
c.5023G>C (p.Gly1675Arg)
n.5406G>C
c.2212G>C (p.Gly738Arg)
n.5404G>C
14g.91273581C>TCA390610815CCDC88Cc.5131G>A (p.Gly1711Ser)
c.703G>A (p.Gly235Ser)
n.943G>A
c.1359G>A
c.5023G>A (p.Gly1675Ser)
n.5406G>A
c.2212G>A (p.Gly738Ser)
n.5404G>A
 gnomAD v4
14g.91273582T>ACA487829361CCDC88Cc.5130A>T (p.Gly1710=)
c.702A>T (p.Gly234=)
n.942A>T
c.1358A>T
c.5022A>T (p.Gly1674=)
n.5405A>T
c.2211A>T (p.Gly737=)
n.5403A>T
14g.91273582T>CCA487829362CCDC88Cc.5130A>G (p.Gly1710=)
c.702A>G (p.Gly234=)
n.942A>G
c.1358A>G
c.5022A>G (p.Gly1674=)
n.5405A>G
c.2211A>G (p.Gly737=)
n.5403A>G
 gnomAD v4
14g.91273582T>GCA487829363CCDC88Cc.5130A>C (p.Gly1710=)
c.702A>C (p.Gly234=)
n.942A>C
c.1358A>C
c.5022A>C (p.Gly1674=)
n.5405A>C
c.2211A>C (p.Gly737=)
n.5403A>C
14g.91273583C>ACA390610816CCDC88Cc.5129G>T (p.Gly1710Val)
c.701G>T (p.Gly234Val)
n.941G>T
c.1357G>T
c.5021G>T (p.Gly1674Val)
n.5404G>T
c.2210G>T (p.Gly737Val)
n.5402G>T
14g.91273583C>GCA390610817CCDC88Cc.5129G>C (p.Gly1710Ala)
c.701G>C (p.Gly234Ala)
n.941G>C
c.1357G>C
c.5021G>C (p.Gly1674Ala)
n.5404G>C
c.2210G>C (p.Gly737Ala)
n.5402G>C
14g.91273583C>TCA390610818CCDC88Cc.5129G>A (p.Gly1710Glu)
c.701G>A (p.Gly234Glu)
n.941G>A
c.1357G>A
c.5021G>A (p.Gly1674Glu)
n.5404G>A
c.2210G>A (p.Gly737Glu)
n.5402G>A
 COSMIC COSMIC COSMIC
14g.91273584C>ACA390610819CCDC88Cc.5128G>T (p.Gly1710Ter)
c.700G>T (p.Gly234Ter)
n.940G>T
c.1356G>T
c.5020G>T (p.Gly1674Ter)
n.5403G>T
c.2209G>T (p.Gly737Ter)
n.5401G>T
14g.91273584C=CA2154902729CCDC88Cc.5128G= (p.Gly1710=)
c.700G= (p.Gly234=)
n.940G=
c.1356G=
c.5020G= (p.Gly1674=)
n.5403G=
c.2209G= (p.Gly737=)
n.5401G=
14g.91273584C>GCA390610820CCDC88Cc.5128G>C (p.Gly1710Arg)
c.700G>C (p.Gly234Arg)
n.940G>C
c.1356G>C
c.5020G>C (p.Gly1674Arg)
n.5403G>C
c.2209G>C (p.Gly737Arg)
n.5401G>C
14g.91273584C>TCA7308725CCDC88Cc.5128G>A (p.Gly1710Arg)
c.700G>A (p.Gly234Arg)
n.940G>A
c.1356G>A
c.5020G>A (p.Gly1674Arg)
n.5403G>A
c.2209G>A (p.Gly737Arg)
n.5401G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273585G>ACA7308726CCDC88Cc.5127C>T (p.Ile1709=)
c.699C>T (p.Ile233=)
n.939C>T
c.1355C>T
c.5019C>T (p.Ile1673=)
n.5402C>T
c.2208C>T (p.Ile736=)
n.5400C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273585G>CCA390610821CCDC88Cc.5127C>G (p.Ile1709Met)
c.699C>G (p.Ile233Met)
n.939C>G
c.1355C>G
c.5019C>G (p.Ile1673Met)
n.5402C>G
c.2208C>G (p.Ile736Met)
n.5400C>G
 dbSNP
14g.91273585G=CA2154902734CCDC88Cc.5127C= (p.Ile1709=)
c.699C= (p.Ile233=)
n.939C=
c.1355C=
c.5019C= (p.Ile1673=)
n.5402C=
c.2208C= (p.Ile736=)
n.5400C=
14g.91273585G>TCA487829364CCDC88Cc.5127C>A (p.Ile1709=)
c.699C>A (p.Ile233=)
n.939C>A
c.1355C>A
c.5019C>A (p.Ile1673=)
n.5402C>A
c.2208C>A (p.Ile736=)
n.5400C>A
14g.91273586A>CCA390610822CCDC88Cc.5126T>G (p.Ile1709Ser)
c.698T>G (p.Ile233Ser)
n.938T>G
c.1354T>G
c.5018T>G (p.Ile1673Ser)
n.5401T>G
c.2207T>G (p.Ile736Ser)
n.5399T>G
14g.91273586A>GCA390610823CCDC88Cc.5126T>C (p.Ile1709Thr)
c.698T>C (p.Ile233Thr)
n.938T>C
c.1354T>C
c.5018T>C (p.Ile1673Thr)
n.5401T>C
c.2207T>C (p.Ile736Thr)
n.5399T>C
14g.91273586A>TCA390610824CCDC88Cc.5126T>A (p.Ile1709Asn)
c.698T>A (p.Ile233Asn)
n.938T>A
c.1354T>A
c.5018T>A (p.Ile1673Asn)
n.5401T>A
c.2207T>A (p.Ile736Asn)
n.5399T>A
14g.91273587T>ACA390610825CCDC88Cc.5125A>T (p.Ile1709Phe)
c.697A>T (p.Ile233Phe)
n.937A>T
c.1353A>T
c.5017A>T (p.Ile1673Phe)
n.5400A>T
c.2206A>T (p.Ile736Phe)
n.5398A>T
14g.91273587T>CCA390610826CCDC88Cc.5125A>G (p.Ile1709Val)
c.697A>G (p.Ile233Val)
n.937A>G
c.1353A>G
c.5017A>G (p.Ile1673Val)
n.5400A>G
c.2206A>G (p.Ile736Val)
n.5398A>G
 dbSNP gnomAD v4
14g.91273587T>GCA390610827CCDC88Cc.5125A>C (p.Ile1709Leu)
c.697A>C (p.Ile233Leu)
n.937A>C
c.1353A>C
c.5017A>C (p.Ile1673Leu)
n.5400A>C
c.2206A>C (p.Ile736Leu)
n.5398A>C
14g.91273587T=CA2154902736CCDC88Cc.5125A= (p.Ile1709=)
c.697A= (p.Ile233=)
n.937A=
c.1353A=
c.5017A= (p.Ile1673=)
n.5400A=
c.2206A= (p.Ile736=)
n.5398A=
14g.91273588G>ACA487829365CCDC88Cc.5124C>T (p.Ala1708=)
c.696C>T (p.Ala232=)
n.936C>T
c.1352C>T
c.5016C>T (p.Ala1672=)
n.5399C>T
c.2205C>T (p.Ala735=)
n.5397C>T
 gnomAD v4
14g.91273588G>CCA487829366CCDC88Cc.5124C>G (p.Ala1708=)
c.696C>G (p.Ala232=)
n.936C>G
c.1352C>G
c.5016C>G (p.Ala1672=)
n.5399C>G
c.2205C>G (p.Ala735=)
n.5397C>G
 gnomAD v4
14g.91273588G>TCA487829367CCDC88Cc.5124C>A (p.Ala1708=)
c.696C>A (p.Ala232=)
n.936C>A
c.1352C>A
c.5016C>A (p.Ala1672=)
n.5399C>A
c.2205C>A (p.Ala735=)
n.5397C>A
14g.91273589G>ACA390610828CCDC88Cc.5123C>T (p.Ala1708Val)
c.695C>T (p.Ala232Val)
n.935C>T
c.1351C>T
c.5015C>T (p.Ala1672Val)
n.5398C>T
c.2204C>T (p.Ala735Val)
n.5396C>T
 gnomAD v4
14g.91273589G>CCA390610829CCDC88Cc.5123C>G (p.Ala1708Gly)
c.695C>G (p.Ala232Gly)
n.935C>G
c.1351C>G
c.5015C>G (p.Ala1672Gly)
n.5398C>G
c.2204C>G (p.Ala735Gly)
n.5396C>G
14g.91273589G=CA2154902737CCDC88Cc.5123C= (p.Ala1708=)
c.695C= (p.Ala232=)
n.935C=
c.1351C=
c.5015C= (p.Ala1672=)
n.5398C=
c.2204C= (p.Ala735=)
n.5396C=
14g.91273589G>TCA390610830CCDC88Cc.5123C>A (p.Ala1708Asp)
c.695C>A (p.Ala232Asp)
n.935C>A
c.1351C>A
c.5015C>A (p.Ala1672Asp)
n.5398C>A
c.2204C>A (p.Ala735Asp)
n.5396C>A
 dbSNP gnomAD v2 gnomAD v4
14g.91273590C>ACA390610831CCDC88Cc.5122G>T (p.Ala1708Ser)
c.694G>T (p.Ala232Ser)
n.934G>T
c.1350G>T
c.5014G>T (p.Ala1672Ser)
n.5397G>T
c.2203G>T (p.Ala735Ser)
n.5395G>T
 gnomAD v4
14g.91273590C>GCA390610832CCDC88Cc.5122G>C (p.Ala1708Pro)
c.694G>C (p.Ala232Pro)
n.934G>C
c.1350G>C
c.5014G>C (p.Ala1672Pro)
n.5397G>C
c.2203G>C (p.Ala735Pro)
n.5395G>C
14g.91273590C>TCA390610833CCDC88Cc.5122G>A (p.Ala1708Thr)
c.694G>A (p.Ala232Thr)
n.934G>A
c.1350G>A
c.5014G>A (p.Ala1672Thr)
n.5397G>A
c.2203G>A (p.Ala735Thr)
n.5395G>A
14g.91273591T>ACA487829368CCDC88Cc.5121A>T (p.Pro1707=)
c.693A>T (p.Pro231=)
n.933A>T
c.1349A>T
c.5013A>T (p.Pro1671=)
n.5396A>T
c.2202A>T (p.Pro734=)
n.5394A>T
14g.91273591T>CCA487829369CCDC88Cc.5121A>G (p.Pro1707=)
c.693A>G (p.Pro231=)
n.933A>G
c.1349A>G
c.5013A>G (p.Pro1671=)
n.5396A>G
c.2202A>G (p.Pro734=)
n.5394A>G
14g.91273591T>GCA487829370CCDC88Cc.5121A>C (p.Pro1707=)
c.693A>C (p.Pro231=)
n.933A>C
c.1349A>C
c.5013A>C (p.Pro1671=)
n.5396A>C
c.2202A>C (p.Pro734=)
n.5394A>C
14g.91273591T=CA2154902739CCDC88Cc.5121A= (p.Pro1707=)
c.693A= (p.Pro231=)
n.933A=
c.1349A=
c.5013A= (p.Pro1671=)
n.5396A=
c.2202A= (p.Pro734=)
n.5394A=
14g.91273592G>ACA390610835CCDC88Cc.5120C>T (p.Pro1707Leu)
c.692C>T (p.Pro231Leu)
n.932C>T
c.1348C>T
c.5012C>T (p.Pro1671Leu)
n.5395C>T
c.2201C>T (p.Pro734Leu)
n.5393C>T
 gnomAD v4
14g.91273592G>CCA390610836CCDC88Cc.5120C>G (p.Pro1707Arg)
c.692C>G (p.Pro231Arg)
n.932C>G
c.1348C>G
c.5012C>G (p.Pro1671Arg)
n.5395C>G
c.2201C>G (p.Pro734Arg)
n.5393C>G
14g.91273592G>TCA390610834CCDC88Cc.5120C>A (p.Pro1707Gln)
c.692C>A (p.Pro231Gln)
n.932C>A
c.1348C>A
c.5012C>A (p.Pro1671Gln)
n.5395C>A
c.2201C>A (p.Pro734Gln)
n.5393C>A
 gnomAD v4
14g.91273596dupCA7308727CCDC88Cc.5120dup (p.Ala1708SerfsTer?)
c.692dup (p.Ala232SerfsTer?)
n.932dup
c.1348dup
c.5012dup (p.Ala1672SerfsTer?)
n.5395dup
c.2201dup (p.Ala735SerfsTer?)
n.5393dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273596delCA2626123449CCDC88Cc.5120del (p.Pro1707GlnfsTer?)
c.692del (p.Pro231GlnfsTer?)
n.932del
c.1348del
c.5012del (p.Pro1671GlnfsTer?)
n.5395del
c.2201del (p.Pro734GlnfsTer?)
n.5393del
 gnomAD v4
14g.91273593G>ACA390610837CCDC88Cc.5119C>T (p.Pro1707Ser)
c.691C>T (p.Pro231Ser)
n.931C>T
c.1347C>T
c.5011C>T (p.Pro1671Ser)
n.5394C>T
c.2200C>T (p.Pro734Ser)
n.5392C>T
 gnomAD v4
14g.91273593G>CCA390610838CCDC88Cc.5119C>G (p.Pro1707Ala)
c.691C>G (p.Pro231Ala)
n.931C>G
c.1347C>G
c.5011C>G (p.Pro1671Ala)
n.5394C>G
c.2200C>G (p.Pro734Ala)
n.5392C>G
14g.91273593G>TCA390610839CCDC88Cc.5119C>A (p.Pro1707Thr)
c.691C>A (p.Pro231Thr)
n.931C>A
c.1347C>A
c.5011C>A (p.Pro1671Thr)
n.5394C>A
c.2200C>A (p.Pro734Thr)
n.5392C>A
14g.91273594G>ACA487829373CCDC88Cc.5118C>T (p.Pro1706=)
c.690C>T (p.Pro230=)
n.930C>T
c.1346C>T
c.5010C>T (p.Pro1670=)
n.5393C>T
c.2199C>T (p.Pro733=)
n.5391C>T
 gnomAD v4
14g.91273594G>CCA487829372CCDC88Cc.5118C>G (p.Pro1706=)
c.690C>G (p.Pro230=)
n.930C>G
c.1346C>G
c.5010C>G (p.Pro1670=)
n.5393C>G
c.2199C>G (p.Pro733=)
n.5391C>G
14g.91273594G>TCA487829371CCDC88Cc.5118C>A (p.Pro1706=)
c.690C>A (p.Pro230=)
n.930C>A
c.1346C>A
c.5010C>A (p.Pro1670=)
n.5393C>A
c.2199C>A (p.Pro733=)
n.5391C>A
14g.91273595G>ACA390610840CCDC88Cc.5117C>T (p.Pro1706Leu)
c.689C>T (p.Pro230Leu)
n.929C>T
c.1345C>T
c.5009C>T (p.Pro1670Leu)
n.5392C>T
c.2198C>T (p.Pro733Leu)
n.5390C>T
14g.91273595G>CCA390610841CCDC88Cc.5117C>G (p.Pro1706Arg)
c.689C>G (p.Pro230Arg)
n.929C>G
c.1345C>G
c.5009C>G (p.Pro1670Arg)
n.5392C>G
c.2198C>G (p.Pro733Arg)
n.5390C>G
14g.91273595G>TCA390610842CCDC88Cc.5117C>A (p.Pro1706His)
c.689C>A (p.Pro230His)
n.929C>A
c.1345C>A
c.5009C>A (p.Pro1670His)
n.5392C>A
c.2198C>A (p.Pro733His)
n.5390C>A
 gnomAD v4
14g.91273596G>ACA7308728CCDC88Cc.5116C>T (p.Pro1706Ser)
c.688C>T (p.Pro230Ser)
n.928C>T
c.1344C>T
c.5008C>T (p.Pro1670Ser)
n.5391C>T
c.2197C>T (p.Pro733Ser)
n.5389C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273596G>CCA390610843CCDC88Cc.5116C>G (p.Pro1706Ala)
c.688C>G (p.Pro230Ala)
n.928C>G
c.1344C>G
c.5008C>G (p.Pro1670Ala)
n.5391C>G
c.2197C>G (p.Pro733Ala)
n.5389C>G
14g.91273596G=CA2154902741CCDC88Cc.5116C= (p.Pro1706=)
c.688C= (p.Pro230=)
n.928C=
c.1344C=
c.5008C= (p.Pro1670=)
n.5391C=
c.2197C= (p.Pro733=)
n.5389C=
14g.91273596G>TCA390610844CCDC88Cc.5116C>A (p.Pro1706Thr)
c.688C>A (p.Pro230Thr)
n.928C>A
c.1344C>A
c.5008C>A (p.Pro1670Thr)
n.5391C>A
c.2197C>A (p.Pro733Thr)
n.5389C>A
 gnomAD v4
14g.91273597delCA2575602982CCDC88Cc.5115del (p.Pro1707GlnfsTer?)
c.687del (p.Pro231GlnfsTer?)
n.927del
c.1343del
c.5007del (p.Pro1671GlnfsTer?)
n.5390del
c.2196del (p.Pro734GlnfsTer?)
n.5388del
14g.91273597A=CA2154902742CCDC88Cc.5115T= (p.Asp1705=)
c.687T= (p.Asp229=)
n.927T=
c.1343T=
c.5007T= (p.Asp1669=)
n.5390T=
c.2196T= (p.Asp732=)
n.5388T=
14g.91273597A>CCA390610845CCDC88Cc.5115T>G (p.Asp1705Glu)
c.687T>G (p.Asp229Glu)
n.927T>G
c.1343T>G
c.5007T>G (p.Asp1669Glu)
n.5390T>G
c.2196T>G (p.Asp732Glu)
n.5388T>G
14g.91273597A>GCA487829374CCDC88Cc.5115T>C (p.Asp1705=)
c.687T>C (p.Asp229=)
n.927T>C
c.1343T>C
c.5007T>C (p.Asp1669=)
n.5390T>C
c.2196T>C (p.Asp732=)
n.5388T>C
 dbSNP
14g.91273597A>TCA390610846CCDC88Cc.5115T>A (p.Asp1705Glu)
c.687T>A (p.Asp229Glu)
n.927T>A
c.1343T>A
c.5007T>A (p.Asp1669Glu)
n.5390T>A
c.2196T>A (p.Asp732Glu)
n.5388T>A
14g.91273597dupCA2626123451CCDC88Cc.5115dup (p.Pro1706SerfsTer?)
c.687dup (p.Pro230SerfsTer?)
n.927dup
c.1343dup
c.5007dup (p.Pro1670SerfsTer?)
n.5390dup
c.2196dup (p.Pro733SerfsTer?)
n.5388dup
 gnomAD v4
14g.91273598T>ACA390610847CCDC88Cc.5114A>T (p.Asp1705Val)
c.686A>T (p.Asp229Val)
n.926A>T
c.1342A>T
c.5006A>T (p.Asp1669Val)
n.5389A>T
c.2195A>T (p.Asp732Val)
n.5387A>T
 ClinVar gnomAD v4
14g.91273598T>CCA390610848CCDC88Cc.5114A>G (p.Asp1705Gly)
c.686A>G (p.Asp229Gly)
n.926A>G
c.1342A>G
c.5006A>G (p.Asp1669Gly)
n.5389A>G
c.2195A>G (p.Asp732Gly)
n.5387A>G
14g.91273598T>GCA390610849CCDC88Cc.5114A>C (p.Asp1705Ala)
c.686A>C (p.Asp229Ala)
n.926A>C
c.1342A>C
c.5006A>C (p.Asp1669Ala)
n.5389A>C
c.2195A>C (p.Asp732Ala)
n.5387A>C
14g.91273599C>ACA390610850CCDC88Cc.5113G>T (p.Asp1705Tyr)
c.685G>T (p.Asp229Tyr)
n.925G>T
c.1341G>T
c.5005G>T (p.Asp1669Tyr)
n.5388G>T
c.2194G>T (p.Asp732Tyr)
n.5386G>T
14g.91273599C=CA2154902744CCDC88Cc.5113G= (p.Asp1705=)
c.685G= (p.Asp229=)
n.925G=
c.1341G=
c.5005G= (p.Asp1669=)
n.5388G=
c.2194G= (p.Asp732=)
n.5386G=
14g.91273599C>GCA390610851CCDC88Cc.5113G>C (p.Asp1705His)
c.685G>C (p.Asp229His)
n.925G>C
c.1341G>C
c.5005G>C (p.Asp1669His)
n.5388G>C
c.2194G>C (p.Asp732His)
n.5386G>C
14g.91273599C>TCA7308729CCDC88Cc.5113G>A (p.Asp1705Asn)
c.685G>A (p.Asp229Asn)
n.925G>A
c.1341G>A
c.5005G>A (p.Asp1669Asn)
n.5388G>A
c.2194G>A (p.Asp732Asn)
n.5386G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273600G>ACA7308730CCDC88Cc.5112C>T (p.Ser1704=)
c.684C>T (p.Ser228=)
n.924C>T
c.1340C>T
c.5004C>T (p.Ser1668=)
n.5387C>T
c.2193C>T (p.Ser731=)
n.5385C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273600G>CCA390610852CCDC88Cc.5112C>G (p.Ser1704Arg)
c.684C>G (p.Ser228Arg)
n.924C>G
c.1340C>G
c.5004C>G (p.Ser1668Arg)
n.5387C>G
c.2193C>G (p.Ser731Arg)
n.5385C>G
 dbSNP
14g.91273600G=CA2154902748CCDC88Cc.5112C= (p.Ser1704=)
c.684C= (p.Ser228=)
n.924C=
c.1340C=
c.5004C= (p.Ser1668=)
n.5387C=
c.2193C= (p.Ser731=)
n.5385C=
14g.91273600G>TCA390610853CCDC88Cc.5112C>A (p.Ser1704Arg)
c.684C>A (p.Ser228Arg)
n.924C>A
c.1340C>A
c.5004C>A (p.Ser1668Arg)
n.5387C>A
c.2193C>A (p.Ser731Arg)
n.5385C>A
14g.91273601C>ACA390610854CCDC88Cc.5111G>T (p.Ser1704Ile)
c.683G>T (p.Ser228Ile)
n.923G>T
c.1339G>T
c.5003G>T (p.Ser1668Ile)
n.5386G>T
c.2192G>T (p.Ser731Ile)
n.5384G>T
 dbSNP
14g.91273601C=CA2154902752CCDC88Cc.5111G= (p.Ser1704=)
c.683G= (p.Ser228=)
n.923G=
c.1339G=
c.5003G= (p.Ser1668=)
n.5386G=
c.2192G= (p.Ser731=)
n.5384G=
14g.91273601C>GCA390610855CCDC88Cc.5111G>C (p.Ser1704Thr)
c.683G>C (p.Ser228Thr)
n.923G>C
c.1339G>C
c.5003G>C (p.Ser1668Thr)
n.5386G>C
c.2192G>C (p.Ser731Thr)
n.5384G>C
14g.91273601C>TCA7308731CCDC88Cc.5111G>A (p.Ser1704Asn)
c.683G>A (p.Ser228Asn)
n.923G>A
c.1339G>A
c.5003G>A (p.Ser1668Asn)
n.5386G>A
c.2192G>A (p.Ser731Asn)
n.5384G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273602T>ACA390610856CCDC88Cc.5110A>T (p.Ser1704Cys)
c.682A>T (p.Ser228Cys)
n.922A>T
c.1338A>T
c.5002A>T (p.Ser1668Cys)
n.5385A>T
c.2191A>T (p.Ser731Cys)
n.5383A>T
14g.91273602T>CCA7308732CCDC88Cc.5110A>G (p.Ser1704Gly)
c.682A>G (p.Ser228Gly)
n.922A>G
c.1338A>G
c.5002A>G (p.Ser1668Gly)
n.5385A>G
c.2191A>G (p.Ser731Gly)
n.5383A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273602T>GCA390610857CCDC88Cc.5110A>C (p.Ser1704Arg)
c.682A>C (p.Ser228Arg)
n.922A>C
c.1338A>C
c.5002A>C (p.Ser1668Arg)
n.5385A>C
c.2191A>C (p.Ser731Arg)
n.5383A>C
 gnomAD v4
14g.91273602T=CA2154902754CCDC88Cc.5110A= (p.Ser1704=)
c.682A= (p.Ser228=)
n.922A=
c.1338A=
c.5002A= (p.Ser1668=)
n.5385A=
c.2191A= (p.Ser731=)
n.5383A=
14g.91273603G>ACA487829375CCDC88Cc.5109C>T (p.Ala1703=)
c.681C>T (p.Ala227=)
n.921C>T
c.1337C>T
c.5001C>T (p.Ala1667=)
n.5384C>T
c.2190C>T (p.Ala730=)
n.5382C>T
14g.91273603G>CCA487829376CCDC88Cc.5109C>G (p.Ala1703=)
c.681C>G (p.Ala227=)
n.921C>G
c.1337C>G
c.5001C>G (p.Ala1667=)
n.5384C>G
c.2190C>G (p.Ala730=)
n.5382C>G
14g.91273603G>TCA487829377CCDC88Cc.5109C>A (p.Ala1703=)
c.681C>A (p.Ala227=)
n.921C>A
c.1337C>A
c.5001C>A (p.Ala1667=)
n.5384C>A
c.2190C>A (p.Ala730=)
n.5382C>A
14g.91273604G>ACA390610858CCDC88Cc.5108C>T (p.Ala1703Val)
c.680C>T (p.Ala227Val)
n.920C>T
c.1336C>T
c.5000C>T (p.Ala1667Val)
n.5383C>T
c.2189C>T (p.Ala730Val)
n.5381C>T
 gnomAD v4
14g.91273604G>CCA390610859CCDC88Cc.5108C>G (p.Ala1703Gly)
c.680C>G (p.Ala227Gly)
n.920C>G
c.1336C>G
c.5000C>G (p.Ala1667Gly)
n.5383C>G
c.2189C>G (p.Ala730Gly)
n.5381C>G
14g.91273604G>TCA390610860CCDC88Cc.5108C>A (p.Ala1703Asp)
c.680C>A (p.Ala227Asp)
n.920C>A
c.1336C>A
c.5000C>A (p.Ala1667Asp)
n.5383C>A
c.2189C>A (p.Ala730Asp)
n.5381C>A
14g.91273605C>ACA390610861CCDC88Cc.5107G>T (p.Ala1703Ser)
c.679G>T (p.Ala227Ser)
n.919G>T
c.1335G>T
c.4999G>T (p.Ala1667Ser)
n.5382G>T
c.2188G>T (p.Ala730Ser)
n.5380G>T
 gnomAD v4
14g.91273605C>GCA390610863CCDC88Cc.5107G>C (p.Ala1703Pro)
c.679G>C (p.Ala227Pro)
n.919G>C
c.1335G>C
c.4999G>C (p.Ala1667Pro)
n.5382G>C
c.2188G>C (p.Ala730Pro)
n.5380G>C
 gnomAD v4
14g.91273605C>TCA390610862CCDC88Cc.5107G>A (p.Ala1703Thr)
c.679G>A (p.Ala227Thr)
n.919G>A
c.1335G>A
c.4999G>A (p.Ala1667Thr)
n.5382G>A
c.2188G>A (p.Ala730Thr)
n.5380G>A
 gnomAD v4
14g.91273606C>ACA390610864CCDC88Cc.5106G>T (p.Lys1702Asn)
c.678G>T (p.Lys226Asn)
n.918G>T
c.1334G>T
c.4998G>T (p.Lys1666Asn)
n.5381G>T
c.2187G>T (p.Lys729Asn)
n.5379G>T
14g.91273606C=CA2154902756CCDC88Cc.5106G= (p.Lys1702=)
c.678G= (p.Lys226=)
n.918G=
c.1334G=
c.4998G= (p.Lys1666=)
n.5381G=
c.2187G= (p.Lys729=)
n.5379G=
14g.91273606C>GCA390610865CCDC88Cc.5106G>C (p.Lys1702Asn)
c.678G>C (p.Lys226Asn)
n.918G>C
c.1334G>C
c.4998G>C (p.Lys1666Asn)
n.5381G>C
c.2187G>C (p.Lys729Asn)
n.5379G>C
 gnomAD v4
14g.91273606C>TCA487829378CCDC88Cc.5106G>A (p.Lys1702=)
c.678G>A (p.Lys226=)
n.918G>A
c.1334G>A
c.4998G>A (p.Lys1666=)
n.5381G>A
c.2187G>A (p.Lys729=)
n.5379G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273607T>ACA390610866CCDC88Cc.5105A>T (p.Lys1702Met)
c.677A>T (p.Lys226Met)
n.917A>T
c.1333A>T
c.4997A>T (p.Lys1666Met)
n.5380A>T
c.2186A>T (p.Lys729Met)
n.5378A>T
 dbSNP
14g.91273607T>CCA390610867CCDC88Cc.5105A>G (p.Lys1702Arg)
c.677A>G (p.Lys226Arg)
n.917A>G
c.1333A>G
c.4997A>G (p.Lys1666Arg)
n.5380A>G
c.2186A>G (p.Lys729Arg)
n.5378A>G
14g.91273607T>GCA390610868CCDC88Cc.5105A>C (p.Lys1702Thr)
c.677A>C (p.Lys226Thr)
n.917A>C
c.1333A>C
c.4997A>C (p.Lys1666Thr)
n.5380A>C
c.2186A>C (p.Lys729Thr)
n.5378A>C
 dbSNP
14g.91273607T=CA2154902760CCDC88Cc.5105A= (p.Lys1702=)
c.677A= (p.Lys226=)
n.917A=
c.1333A=
c.4997A= (p.Lys1666=)
n.5380A=
c.2186A= (p.Lys729=)
n.5378A=
14g.91273608T>ACA390610869CCDC88Cc.5104A>T (p.Lys1702Ter)
c.676A>T (p.Lys226Ter)
n.916A>T
c.1332A>T
c.4996A>T (p.Lys1666Ter)
n.5379A>T
c.2185A>T (p.Lys729Ter)
n.5377A>T
14g.91273608T>CCA390610870CCDC88Cc.5104A>G (p.Lys1702Glu)
c.676A>G (p.Lys226Glu)
n.916A>G
c.1332A>G
c.4996A>G (p.Lys1666Glu)
n.5379A>G
c.2185A>G (p.Lys729Glu)
n.5377A>G
14g.91273608T>GCA390610871CCDC88Cc.5104A>C (p.Lys1702Gln)
c.676A>C (p.Lys226Gln)
n.916A>C
c.1332A>C
c.4996A>C (p.Lys1666Gln)
n.5379A>C
c.2185A>C (p.Lys729Gln)
n.5377A>C
14g.91273609T>ACA487829379CCDC88Cc.5103A>T (p.Arg1701=)
c.675A>T (p.Arg225=)
n.915A>T
c.1331A>T
c.4995A>T (p.Arg1665=)
n.5378A>T
c.2184A>T (p.Arg728=)
n.5376A>T
14g.91273609T>CCA487829380CCDC88Cc.5103A>G (p.Arg1701=)
c.675A>G (p.Arg225=)
n.915A>G
c.1331A>G
c.4995A>G (p.Arg1665=)
n.5378A>G
c.2184A>G (p.Arg728=)
n.5376A>G
14g.91273609T>GCA487829381CCDC88Cc.5103A>C (p.Arg1701=)
c.675A>C (p.Arg225=)
n.915A>C
c.1331A>C
c.4995A>C (p.Arg1665=)
n.5378A>C
c.2184A>C (p.Arg728=)
n.5376A>C
14g.91273610C>ACA390610872CCDC88Cc.5102G>T (p.Arg1701Leu)
c.674G>T (p.Arg225Leu)
n.914G>T
c.1330G>T
c.4994G>T (p.Arg1665Leu)
n.5377G>T
c.2183G>T (p.Arg728Leu)
n.5375G>T
 gnomAD v4
14g.91273610C=CA2154902765CCDC88Cc.5102G= (p.Arg1701=)
c.674G= (p.Arg225=)
n.914G=
c.1330G=
c.4994G= (p.Arg1665=)
n.5377G=
c.2183G= (p.Arg728=)
n.5375G=
14g.91273610C>GCA390610873CCDC88Cc.5102G>C (p.Arg1701Pro)
c.674G>C (p.Arg225Pro)
n.914G>C
c.1330G>C
c.4994G>C (p.Arg1665Pro)
n.5377G>C
c.2183G>C (p.Arg728Pro)
n.5375G>C
14g.91273610C>TCA7308733CCDC88Cc.5102G>A (p.Arg1701Gln)
c.674G>A (p.Arg225Gln)
n.914G>A
c.1330G>A
c.4994G>A (p.Arg1665Gln)
n.5377G>A
c.2183G>A (p.Arg728Gln)
n.5375G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273611G>ACA390610874CCDC88Cc.5101C>T (p.Arg1701Ter)
c.673C>T (p.Arg225Ter)
n.913C>T
c.1329C>T
c.4993C>T (p.Arg1665Ter)
n.5376C>T
c.2182C>T (p.Arg728Ter)
n.5374C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.91273611G>CCA390610875CCDC88Cc.5101C>G (p.Arg1701Gly)
c.673C>G (p.Arg225Gly)
n.913C>G
c.1329C>G
c.4993C>G (p.Arg1665Gly)
n.5376C>G
c.2182C>G (p.Arg728Gly)
n.5374C>G
 gnomAD v4
14g.91273611G=CA2154902768CCDC88Cc.5101C= (p.Arg1701=)
c.673C= (p.Arg225=)
n.913C=
c.1329C=
c.4993C= (p.Arg1665=)
n.5376C=
c.2182C= (p.Arg728=)
n.5374C=
14g.91273611G>TCA487829382CCDC88Cc.5101C>A (p.Arg1701=)
c.673C>A (p.Arg225=)
n.913C>A
c.1329C>A
c.4993C>A (p.Arg1665=)
n.5376C>A
c.2182C>A (p.Arg728=)
n.5374C>A
 gnomAD v4
14g.91273612G>ACA487829383CCDC88Cc.5100C>T (p.Phe1700=)
c.672C>T (p.Phe224=)
n.912C>T
c.1328C>T
c.4992C>T (p.Phe1664=)
n.5375C>T
c.2181C>T (p.Phe727=)
n.5373C>T
 COSMIC COSMIC COSMIC
14g.91273612G>CCA390610876CCDC88Cc.5100C>G (p.Phe1700Leu)
c.672C>G (p.Phe224Leu)
n.912C>G
c.1328C>G
c.4992C>G (p.Phe1664Leu)
n.5375C>G
c.2181C>G (p.Phe727Leu)
n.5373C>G
 gnomAD v4
14g.91273612G>TCA390610877CCDC88Cc.5100C>A (p.Phe1700Leu)
c.672C>A (p.Phe224Leu)
n.912C>A
c.1328C>A
c.4992C>A (p.Phe1664Leu)
n.5375C>A
c.2181C>A (p.Phe727Leu)
n.5373C>A
 gnomAD v4
14g.91273613A>CCA390610878CCDC88Cc.5099T>G (p.Phe1700Cys)
c.671T>G (p.Phe224Cys)
n.911T>G
c.1327T>G
c.4991T>G (p.Phe1664Cys)
n.5374T>G
c.2180T>G (p.Phe727Cys)
n.5372T>G
14g.91273613A>GCA390610879CCDC88Cc.5099T>C (p.Phe1700Ser)
c.671T>C (p.Phe224Ser)
n.911T>C
c.1327T>C
c.4991T>C (p.Phe1664Ser)
n.5374T>C
c.2180T>C (p.Phe727Ser)
n.5372T>C
14g.91273613A>TCA390610880CCDC88Cc.5099T>A (p.Phe1700Tyr)
c.671T>A (p.Phe224Tyr)
n.911T>A
c.1327T>A
c.4991T>A (p.Phe1664Tyr)
n.5374T>A
c.2180T>A (p.Phe727Tyr)
n.5372T>A
14g.91273614A>CCA390610881CCDC88Cc.5098T>G (p.Phe1700Val)
c.670T>G (p.Phe224Val)
n.910T>G
c.1326T>G
c.4990T>G (p.Phe1664Val)
n.5373T>G
c.2179T>G (p.Phe727Val)
n.5371T>G
14g.91273614A>GCA390610882CCDC88Cc.5098T>C (p.Phe1700Leu)
c.670T>C (p.Phe224Leu)
n.910T>C
c.1326T>C
c.4990T>C (p.Phe1664Leu)
n.5373T>C
c.2179T>C (p.Phe727Leu)
n.5371T>C
14g.91273614A>TCA390610883CCDC88Cc.5098T>A (p.Phe1700Ile)
c.670T>A (p.Phe224Ile)
n.910T>A
c.1326T>A
c.4990T>A (p.Phe1664Ile)
n.5373T>A
c.2179T>A (p.Phe727Ile)
n.5371T>A
14g.91273615G>ACA487829384CCDC88Cc.5097C>T (p.Tyr1699=)
c.669C>T (p.Tyr223=)
n.909C>T
c.1325C>T
c.4989C>T (p.Tyr1663=)
n.5372C>T
c.2178C>T (p.Tyr726=)
n.5370C>T
 gnomAD v4
14g.91273615G>CCA390610884CCDC88Cc.5097C>G (p.Tyr1699Ter)
c.669C>G (p.Tyr223Ter)
n.909C>G
c.1325C>G
c.4989C>G (p.Tyr1663Ter)
n.5372C>G
c.2178C>G (p.Tyr726Ter)
n.5370C>G
14g.91273615G>TCA390610885CCDC88Cc.5097C>A (p.Tyr1699Ter)
c.669C>A (p.Tyr223Ter)
n.909C>A
c.1325C>A
c.4989C>A (p.Tyr1663Ter)
n.5372C>A
c.2178C>A (p.Tyr726Ter)
n.5370C>A
14g.91273616T>ACA390610886CCDC88Cc.5096A>T (p.Tyr1699Phe)
c.668A>T (p.Tyr223Phe)
n.908A>T
c.1324A>T
c.4988A>T (p.Tyr1663Phe)
n.5371A>T
c.2177A>T (p.Tyr726Phe)
n.5369A>T
 gnomAD v4
14g.91273616T>CCA390610887CCDC88Cc.5096A>G (p.Tyr1699Cys)
c.668A>G (p.Tyr223Cys)
n.908A>G
c.1324A>G
c.4988A>G (p.Tyr1663Cys)
n.5371A>G
c.2177A>G (p.Tyr726Cys)
n.5369A>G
 dbSNP gnomAD v4
14g.91273616T>GCA390610888CCDC88Cc.5096A>C (p.Tyr1699Ser)
c.668A>C (p.Tyr223Ser)
n.908A>C
c.1324A>C
c.4988A>C (p.Tyr1663Ser)
n.5371A>C
c.2177A>C (p.Tyr726Ser)
n.5369A>C
 dbSNP
14g.91273616T=CA2154902771CCDC88Cc.5096A= (p.Tyr1699=)
c.668A= (p.Tyr223=)
n.908A=
c.1324A=
c.4988A= (p.Tyr1663=)
n.5371A=
c.2177A= (p.Tyr726=)
n.5369A=
14g.91273617A>CCA390610889CCDC88Cc.5095T>G (p.Tyr1699Asp)
c.667T>G (p.Tyr223Asp)
n.907T>G
c.1323T>G
c.4987T>G (p.Tyr1663Asp)
n.5370T>G
c.2176T>G (p.Tyr726Asp)
n.5368T>G
14g.91273617A>GCA390610891CCDC88Cc.5095T>C (p.Tyr1699His)
c.667T>C (p.Tyr223His)
n.907T>C
c.1323T>C
c.4987T>C (p.Tyr1663His)
n.5370T>C
c.2176T>C (p.Tyr726His)
n.5368T>C
14g.91273617A>TCA390610890CCDC88Cc.5095T>A (p.Tyr1699Asn)
c.667T>A (p.Tyr223Asn)
n.907T>A
c.1323T>A
c.4987T>A (p.Tyr1663Asn)
n.5370T>A
c.2176T>A (p.Tyr726Asn)
n.5368T>A
14g.91273618G>ACA487829385CCDC88Cc.5094C>T (p.Asp1698=)
c.666C>T (p.Asp222=)
n.906C>T
c.1322C>T
c.4986C>T (p.Asp1662=)
n.5369C>T
c.2175C>T (p.Asp725=)
n.5367C>T
14g.91273618G>CCA390610892CCDC88Cc.5094C>G (p.Asp1698Glu)
c.666C>G (p.Asp222Glu)
n.906C>G
c.1322C>G
c.4986C>G (p.Asp1662Glu)
n.5369C>G
c.2175C>G (p.Asp725Glu)
n.5367C>G
14g.91273618G>TCA390610893CCDC88Cc.5094C>A (p.Asp1698Glu)
c.666C>A (p.Asp222Glu)
n.906C>A
c.1322C>A
c.4986C>A (p.Asp1662Glu)
n.5369C>A
c.2175C>A (p.Asp725Glu)
n.5367C>A
 gnomAD v4
14g.91273619T>ACA7308734CCDC88Cc.5093A>T (p.Asp1698Val)
c.665A>T (p.Asp222Val)
n.905A>T
c.1321A>T
c.4985A>T (p.Asp1662Val)
n.5368A>T
c.2174A>T (p.Asp725Val)
n.5366A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273619T>CCA390610895CCDC88Cc.5093A>G (p.Asp1698Gly)
c.665A>G (p.Asp222Gly)
n.905A>G
c.1321A>G
c.4985A>G (p.Asp1662Gly)
n.5368A>G
c.2174A>G (p.Asp725Gly)
n.5366A>G
14g.91273619T>GCA390610894CCDC88Cc.5093A>C (p.Asp1698Ala)
c.665A>C (p.Asp222Ala)
n.905A>C
c.1321A>C
c.4985A>C (p.Asp1662Ala)
n.5368A>C
c.2174A>C (p.Asp725Ala)
n.5366A>C
14g.91273619T=CA2154902774CCDC88Cc.5093A= (p.Asp1698=)
c.665A= (p.Asp222=)
n.905A=
c.1321A=
c.4985A= (p.Asp1662=)
n.5368A=
c.2174A= (p.Asp725=)
n.5366A=
14g.91273620C>ACA390610896CCDC88Cc.5092G>T (p.Asp1698Tyr)
c.664G>T (p.Asp222Tyr)
n.904G>T
c.1320G>T
c.4984G>T (p.Asp1662Tyr)
n.5367G>T
c.2173G>T (p.Asp725Tyr)
n.5365G>T
 gnomAD v4
14g.91273620C>GCA390610897CCDC88Cc.5092G>C (p.Asp1698His)
c.664G>C (p.Asp222His)
n.904G>C
c.1320G>C
c.4984G>C (p.Asp1662His)
n.5367G>C
c.2173G>C (p.Asp725His)
n.5365G>C
14g.91273620C>TCA390610898CCDC88Cc.5092G>A (p.Asp1698Asn)
c.664G>A (p.Asp222Asn)
n.904G>A
c.1320G>A
c.4984G>A (p.Asp1662Asn)
n.5367G>A
c.2173G>A (p.Asp725Asn)
n.5365G>A
14g.91273621A>CCA390610899CCDC88Cc.5091T>G (p.Ser1697Arg)
c.663T>G (p.Ser221Arg)
n.903T>G
c.1319T>G
c.4983T>G (p.Ser1661Arg)
n.5366T>G
c.2172T>G (p.Ser724Arg)
n.5364T>G
14g.91273621A>GCA487829386CCDC88Cc.5091T>C (p.Ser1697=)
c.663T>C (p.Ser221=)
n.903T>C
c.1319T>C
c.4983T>C (p.Ser1661=)
n.5366T>C
c.2172T>C (p.Ser724=)
n.5364T>C
14g.91273621A>TCA390610900CCDC88Cc.5091T>A (p.Ser1697Arg)
c.663T>A (p.Ser221Arg)
n.903T>A
c.1319T>A
c.4983T>A (p.Ser1661Arg)
n.5366T>A
c.2172T>A (p.Ser724Arg)
n.5364T>A
14g.91273622C>ACA390610901CCDC88Cc.5090G>T (p.Ser1697Ile)
c.662G>T (p.Ser221Ile)
n.902G>T
c.1318G>T
c.4982G>T (p.Ser1661Ile)
n.5365G>T
c.2171G>T (p.Ser724Ile)
n.5363G>T
14g.91273622C=CA2154902779CCDC88Cc.5090G= (p.Ser1697=)
c.662G= (p.Ser221=)
n.902G=
c.1318G=
c.4982G= (p.Ser1661=)
n.5365G=
c.2171G= (p.Ser724=)
n.5363G=
14g.91273622C>GCA390610902CCDC88Cc.5090G>C (p.Ser1697Thr)
c.662G>C (p.Ser221Thr)
n.902G>C
c.1318G>C
c.4982G>C (p.Ser1661Thr)
n.5365G>C
c.2171G>C (p.Ser724Thr)
n.5363G>C
14g.91273622C>TCA7308735CCDC88Cc.5090G>A (p.Ser1697Asn)
c.662G>A (p.Ser221Asn)
n.902G>A
c.1318G>A
c.4982G>A (p.Ser1661Asn)
n.5365G>A
c.2171G>A (p.Ser724Asn)
n.5363G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273623T>ACA390610903CCDC88Cc.5089A>T (p.Ser1697Cys)
c.661A>T (p.Ser221Cys)
n.901A>T
c.1317A>T
c.4981A>T (p.Ser1661Cys)
n.5364A>T
c.2170A>T (p.Ser724Cys)
n.5362A>T
14g.91273623T>CCA390610904CCDC88Cc.5089A>G (p.Ser1697Gly)
c.661A>G (p.Ser221Gly)
n.901A>G
c.1317A>G
c.4981A>G (p.Ser1661Gly)
n.5364A>G
c.2170A>G (p.Ser724Gly)
n.5362A>G
14g.91273623T>GCA390610905CCDC88Cc.5089A>C (p.Ser1697Arg)
c.661A>C (p.Ser221Arg)
n.901A>C
c.1317A>C
c.4981A>C (p.Ser1661Arg)
n.5364A>C
c.2170A>C (p.Ser724Arg)
n.5362A>C
 gnomAD v4
14g.91273624C>ACA487829387CCDC88Cc.5088G>T (p.Leu1696=)
c.660G>T (p.Leu220=)
n.900G>T
c.1316G>T
c.4980G>T (p.Leu1660=)
n.5363G>T
c.2169G>T (p.Leu723=)
n.5361G>T
14g.91273624C>GCA487829388CCDC88Cc.5088G>C (p.Leu1696=)
c.660G>C (p.Leu220=)
n.900G>C
c.1316G>C
c.4980G>C (p.Leu1660=)
n.5363G>C
c.2169G>C (p.Leu723=)
n.5361G>C
14g.91273624C>TCA487829389CCDC88Cc.5088G>A (p.Leu1696=)
c.660G>A (p.Leu220=)
n.900G>A
c.1316G>A
c.4980G>A (p.Leu1660=)
n.5363G>A
c.2169G>A (p.Leu723=)
n.5361G>A

Number of alleles fetched