Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.214980571T>ACA350461015ABCA12c.4652A>T (p.Glu1551Val)
c.3698A>T (p.Glu1233Val)
n.4952A>T
c.4661A>T (p.Glu1554Val)
n.5150A>T
2g.214980571T>CCA350461012ABCA12c.4652A>G (p.Glu1551Gly)
c.3698A>G (p.Glu1233Gly)
n.4952A>G
c.4661A>G (p.Glu1554Gly)
n.5150A>G
2g.214980571T>GCA350461011ABCA12c.4652A>C (p.Glu1551Ala)
c.3698A>C (p.Glu1233Ala)
n.4952A>C
c.4661A>C (p.Glu1554Ala)
n.5150A>C
2g.214980572C>ACA350461016ABCA12c.4651G>T (p.Glu1551Ter)
c.3697G>T (p.Glu1233Ter)
n.4951G>T
c.4660G>T (p.Glu1554Ter)
n.5149G>T
2g.214980572C=CA1327161006ABCA12c.4651G= (p.Glu1551=)
c.3697G= (p.Glu1233=)
n.4951G=
c.4660G= (p.Glu1554=)
n.5149G=
2g.214980572C>GCA350461017ABCA12c.4651G>C (p.Glu1551Gln)
c.3697G>C (p.Glu1233Gln)
n.4951G>C
c.4660G>C (p.Glu1554Gln)
n.5149G>C
2g.214980572C>TCA350461020ABCA12c.4651G>A (p.Glu1551Lys)
c.3697G>A (p.Glu1233Lys)
n.4951G>A
c.4660G>A (p.Glu1554Lys)
n.5149G>A
 dbSNP gnomAD v3 gnomAD v4
2g.214980573C>ACA431148856ABCA12c.4650G>T (p.Leu1550=)
c.3696G>T (p.Leu1232=)
n.4950G>T
c.4659G>T (p.Leu1553=)
n.5148G>T
2g.214980573C>GCA431148857ABCA12c.4650G>C (p.Leu1550=)
c.3696G>C (p.Leu1232=)
n.4950G>C
c.4659G>C (p.Leu1553=)
n.5148G>C
 gnomAD v4
2g.214980573C>TCA431148859ABCA12c.4650G>A (p.Leu1550=)
c.3696G>A (p.Leu1232=)
n.4950G>A
c.4659G>A (p.Leu1553=)
n.5148G>A
2g.214980574A>CCA350461022ABCA12c.4649T>G (p.Leu1550Arg)
c.3695T>G (p.Leu1232Arg)
n.4949T>G
c.4658T>G (p.Leu1553Arg)
n.5147T>G
2g.214980574A>GCA350461023ABCA12c.4649T>C (p.Leu1550Pro)
c.3695T>C (p.Leu1232Pro)
n.4949T>C
c.4658T>C (p.Leu1553Pro)
n.5147T>C
2g.214980574A>TCA350461025ABCA12c.4649T>A (p.Leu1550Gln)
c.3695T>A (p.Leu1232Gln)
n.4949T>A
c.4658T>A (p.Leu1553Gln)
n.5147T>A
2g.214980575G>ACA431148863ABCA12c.4648C>T (p.Leu1550=)
c.3694C>T (p.Leu1232=)
n.4948C>T
c.4657C>T (p.Leu1553=)
n.5146C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.214980575G>CCA350461026ABCA12c.4648C>G (p.Leu1550Val)
c.3694C>G (p.Leu1232Val)
n.4948C>G
c.4657C>G (p.Leu1553Val)
n.5146C>G
2g.214980575G=CA1327161007ABCA12c.4648C= (p.Leu1550=)
c.3694C= (p.Leu1232=)
n.4948C=
c.4657C= (p.Leu1553=)
n.5146C=
2g.214980575G>TCA350461028ABCA12c.4648C>A (p.Leu1550Met)
c.3694C>A (p.Leu1232Met)
n.4948C>A
c.4657C>A (p.Leu1553Met)
n.5146C>A
2g.214980576G>ACA431148865ABCA12c.4647C>T (p.Phe1549=)
c.3693C>T (p.Phe1231=)
n.4947C>T
c.4656C>T (p.Phe1552=)
n.5145C>T
2g.214980576G>CCA350461029ABCA12c.4647C>G (p.Phe1549Leu)
c.3693C>G (p.Phe1231Leu)
n.4947C>G
c.4656C>G (p.Phe1552Leu)
n.5145C>G
2g.214980576G>TCA350461031ABCA12c.4647C>A (p.Phe1549Leu)
c.3693C>A (p.Phe1231Leu)
n.4947C>A
c.4656C>A (p.Phe1552Leu)
n.5145C>A
2g.214980577A=CA1327161008ABCA12c.4646T= (p.Phe1549=)
c.3692T= (p.Phe1231=)
n.4946T=
c.4655T= (p.Phe1552=)
n.5144T=
2g.214980577A>CCA350461034ABCA12c.4646T>G (p.Phe1549Cys)
c.3692T>G (p.Phe1231Cys)
n.4946T>G
c.4655T>G (p.Phe1552Cys)
n.5144T>G
2g.214980577A>GCA350461036ABCA12c.4646T>C (p.Phe1549Ser)
c.3692T>C (p.Phe1231Ser)
n.4946T>C
c.4655T>C (p.Phe1552Ser)
n.5144T>C
2g.214980577A>TCA350461037ABCA12c.4646T>A (p.Phe1549Tyr)
c.3692T>A (p.Phe1231Tyr)
n.4946T>A
c.4655T>A (p.Phe1552Tyr)
n.5144T>A
2g.214980577_214980578insGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTCA2091422ABCA12c.4645_4646insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC (p.Phe1549Ter)
c.3691_3692insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC (p.Phe1231Ter)
n.4945_4946insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC
c.4654_4655insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC (p.Phe1552Ter)
n.5143_5144insAAAAATACTGTGCAAGATGTATATGCTATTAGGAAGTTTTCAACTACC
 dbSNP ExAC
2g.214980578A=CA1327161009ABCA12c.4645T= (p.Phe1549=)
c.3691T= (p.Phe1231=)
n.4945T=
c.4654T= (p.Phe1552=)
n.5143T=
2g.214980578A>CCA350461041ABCA12c.4645T>G (p.Phe1549Val)
c.3691T>G (p.Phe1231Val)
n.4945T>G
c.4654T>G (p.Phe1552Val)
n.5143T>G
2g.214980578A>GCA2091423ABCA12c.4645T>C (p.Phe1549Leu)
c.3691T>C (p.Phe1231Leu)
n.4945T>C
c.4654T>C (p.Phe1552Leu)
n.5143T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980578A>TCA350461040ABCA12c.4645T>A (p.Phe1549Ile)
c.3691T>A (p.Phe1231Ile)
n.4945T>A
c.4654T>A (p.Phe1552Ile)
n.5143T>A
2g.214980579G>ACA431148881ABCA12c.4644C>T (p.Ala1548=)
c.3690C>T (p.Ala1230=)
n.4944C>T
c.4653C>T (p.Ala1551=)
n.5142C>T
2g.214980579G>CCA2091424ABCA12c.4644C>G (p.Ala1548=)
c.3690C>G (p.Ala1230=)
n.4944C>G
c.4653C>G (p.Ala1551=)
n.5142C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980579G=CA1327161010ABCA12c.4644C= (p.Ala1548=)
c.3690C= (p.Ala1230=)
n.4944C=
c.4653C= (p.Ala1551=)
n.5142C=
2g.214980579G>TCA431148883ABCA12c.4644C>A (p.Ala1548=)
c.3690C>A (p.Ala1230=)
n.4944C>A
c.4653C>A (p.Ala1551=)
n.5142C>A
2g.214980580G>ACA350461046ABCA12c.4643C>T (p.Ala1548Val)
c.3689C>T (p.Ala1230Val)
n.4943C>T
c.4652C>T (p.Ala1551Val)
n.5141C>T
2g.214980580G>CCA350461049ABCA12c.4643C>G (p.Ala1548Gly)
c.3689C>G (p.Ala1230Gly)
n.4943C>G
c.4652C>G (p.Ala1551Gly)
n.5141C>G
2g.214980580G>TCA350461048ABCA12c.4643C>A (p.Ala1548Asp)
c.3689C>A (p.Ala1230Asp)
n.4943C>A
c.4652C>A (p.Ala1551Asp)
n.5141C>A
 gnomAD v4
2g.214980581C>ACA350461052ABCA12c.4642G>T (p.Ala1548Ser)
c.3688G>T (p.Ala1230Ser)
n.4942G>T
c.4651G>T (p.Ala1551Ser)
n.5140G>T
2g.214980581C=CA1327161011ABCA12c.4642G= (p.Ala1548=)
c.3688G= (p.Ala1230=)
n.4942G=
c.4651G= (p.Ala1551=)
n.5140G=
2g.214980581C>GCA350461054ABCA12c.4642G>C (p.Ala1548Pro)
c.3688G>C (p.Ala1230Pro)
n.4942G>C
c.4651G>C (p.Ala1551Pro)
n.5140G>C
2g.214980581C>TCA2091425ABCA12c.4642G>A (p.Ala1548Thr)
c.3688G>A (p.Ala1230Thr)
n.4942G>A
c.4651G>A (p.Ala1551Thr)
n.5140G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980582_214980590delCA2662978476ABCA12c.4634_4642del (p.Asp1545_Ile1547del)
c.3680_3688del (p.Asp1227_Ile1229del)
n.4934_4942del
c.4643_4651del (p.Asp1548_Ile1550del)
n.5132_5140del
 gnomAD v4
2g.214980582G>ACA64814895ABCA12c.4641C>T (p.Ile1547=)
c.3687C>T (p.Ile1229=)
n.4941C>T
c.4650C>T (p.Ile1550=)
n.5139C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214980582G>CCA350461057ABCA12c.4641C>G (p.Ile1547Met)
c.3687C>G (p.Ile1229Met)
n.4941C>G
c.4650C>G (p.Ile1550Met)
n.5139C>G
 dbSNP
2g.214980582G=CA1327161012ABCA12c.4641C= (p.Ile1547=)
c.3687C= (p.Ile1229=)
n.4941C=
c.4650C= (p.Ile1550=)
n.5139C=
2g.214980582G>TCA431148886ABCA12c.4641C>A (p.Ile1547=)
c.3687C>A (p.Ile1229=)
n.4941C>A
c.4650C>A (p.Ile1550=)
n.5139C>A
2g.214980583A=CA1327161013ABCA12c.4640T= (p.Ile1547=)
c.3686T= (p.Ile1229=)
n.4940T=
c.4649T= (p.Ile1550=)
n.5138T=
2g.214980583A>CCA350461059ABCA12c.4640T>G (p.Ile1547Ser)
c.3686T>G (p.Ile1229Ser)
n.4940T>G
c.4649T>G (p.Ile1550Ser)
n.5138T>G
2g.214980583A>GCA2091426ABCA12c.4640T>C (p.Ile1547Thr)
c.3686T>C (p.Ile1229Thr)
n.4940T>C
c.4649T>C (p.Ile1550Thr)
n.5138T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980583A>TCA350461062ABCA12c.4640T>A (p.Ile1547Asn)
c.3686T>A (p.Ile1229Asn)
n.4940T>A
c.4649T>A (p.Ile1550Asn)
n.5138T>A
 COSMIC COSMIC
2g.214980584T>ACA350461063ABCA12c.4639A>T (p.Ile1547Phe)
c.3685A>T (p.Ile1229Phe)
n.4939A>T
c.4648A>T (p.Ile1550Phe)
n.5137A>T
2g.214980584T>CCA350461065ABCA12c.4639A>G (p.Ile1547Val)
c.3685A>G (p.Ile1229Val)
n.4939A>G
c.4648A>G (p.Ile1550Val)
n.5137A>G
 gnomAD v4
2g.214980584T>GCA350461067ABCA12c.4639A>C (p.Ile1547Leu)
c.3685A>C (p.Ile1229Leu)
n.4939A>C
c.4648A>C (p.Ile1550Leu)
n.5137A>C
2g.214980585G>ACA431148895ABCA12c.4638C>T (p.Arg1546=)
c.3684C>T (p.Arg1228=)
n.4938C>T
c.4647C>T (p.Arg1549=)
n.5136C>T
2g.214980585G>CCA431148896ABCA12c.4638C>G (p.Arg1546=)
c.3684C>G (p.Arg1228=)
n.4938C>G
c.4647C>G (p.Arg1549=)
n.5136C>G
2g.214980585G>TCA431148897ABCA12c.4638C>A (p.Arg1546=)
c.3684C>A (p.Arg1228=)
n.4938C>A
c.4647C>A (p.Arg1549=)
n.5136C>A
2g.214980586C>ACA350461069ABCA12c.4637G>T (p.Arg1546Leu)
c.3683G>T (p.Arg1228Leu)
n.4937G>T
c.4646G>T (p.Arg1549Leu)
n.5135G>T
 dbSNP gnomAD v3 gnomAD v4
2g.214980586C=CA1327161014ABCA12c.4637G= (p.Arg1546=)
c.3683G= (p.Arg1228=)
n.4937G=
c.4646G= (p.Arg1549=)
n.5135G=
2g.214980586C>GCA350461071ABCA12c.4637G>C (p.Arg1546Pro)
c.3683G>C (p.Arg1228Pro)
n.4937G>C
c.4646G>C (p.Arg1549Pro)
n.5135G>C
2g.214980586C>TCA350461074ABCA12c.4637G>A (p.Arg1546His)
c.3683G>A (p.Arg1228His)
n.4937G>A
c.4646G>A (p.Arg1549His)
n.5135G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.214980587G>ACA2091427ABCA12c.4636C>T (p.Arg1546Cys)
c.3682C>T (p.Arg1228Cys)
n.4936C>T
c.4645C>T (p.Arg1549Cys)
n.5134C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980587G>CCA350461077ABCA12c.4636C>G (p.Arg1546Gly)
c.3682C>G (p.Arg1228Gly)
n.4936C>G
c.4645C>G (p.Arg1549Gly)
n.5134C>G
 gnomAD v4
2g.214980587G=CA1327161015ABCA12c.4636C= (p.Arg1546=)
c.3682C= (p.Arg1228=)
n.4936C=
c.4645C= (p.Arg1549=)
n.5134C=
2g.214980587G>TCA350461078ABCA12c.4636C>A (p.Arg1546Ser)
c.3682C>A (p.Arg1228Ser)
n.4936C>A
c.4645C>A (p.Arg1549Ser)
n.5134C>A
 dbSNP gnomAD v3 gnomAD v4
2g.214980588G>ACA431148907ABCA12c.4635C>T (p.Asp1545=)
c.3681C>T (p.Asp1227=)
n.4935C>T
c.4644C>T (p.Asp1548=)
n.5133C>T
 gnomAD v4
2g.214980588G>CCA350461080ABCA12c.4635C>G (p.Asp1545Glu)
c.3681C>G (p.Asp1227Glu)
n.4935C>G
c.4644C>G (p.Asp1548Glu)
n.5133C>G
2g.214980588G>TCA350461082ABCA12c.4635C>A (p.Asp1545Glu)
c.3681C>A (p.Asp1227Glu)
n.4935C>A
c.4644C>A (p.Asp1548Glu)
n.5133C>A
2g.214980589T>ACA350461085ABCA12c.4634A>T (p.Asp1545Val)
c.3680A>T (p.Asp1227Val)
n.4934A>T
c.4643A>T (p.Asp1548Val)
n.5132A>T
2g.214980589T>CCA350461086ABCA12c.4634A>G (p.Asp1545Gly)
c.3680A>G (p.Asp1227Gly)
n.4934A>G
c.4643A>G (p.Asp1548Gly)
n.5132A>G
2g.214980589T>GCA350461088ABCA12c.4634A>C (p.Asp1545Ala)
c.3680A>C (p.Asp1227Ala)
n.4934A>C
c.4643A>C (p.Asp1548Ala)
n.5132A>C
2g.214980590C>ACA350461090ABCA12c.4633G>T (p.Asp1545Tyr)
c.3679G>T (p.Asp1227Tyr)
n.4933G>T
c.4642G>T (p.Asp1548Tyr)
n.5131G>T
2g.214980590C>GCA350461091ABCA12c.4633G>C (p.Asp1545His)
c.3679G>C (p.Asp1227His)
n.4933G>C
c.4642G>C (p.Asp1548His)
n.5131G>C
2g.214980590C>TCA350461093ABCA12c.4633G>A (p.Asp1545Asn)
c.3679G>A (p.Asp1227Asn)
n.4933G>A
c.4642G>A (p.Asp1548Asn)
n.5131G>A
2g.214980591A>CCA350461096ABCA12c.4632T>G (p.Ser1544Arg)
c.3678T>G (p.Ser1226Arg)
n.4932T>G
c.4641T>G (p.Ser1547Arg)
n.5130T>G
2g.214980591A>GCA431148914ABCA12c.4632T>C (p.Ser1544=)
c.3678T>C (p.Ser1226=)
n.4932T>C
c.4641T>C (p.Ser1547=)
n.5130T>C
2g.214980591A>TCA350461097ABCA12c.4632T>A (p.Ser1544Arg)
c.3678T>A (p.Ser1226Arg)
n.4932T>A
c.4641T>A (p.Ser1547Arg)
n.5130T>A
2g.214980592C>ACA350461099ABCA12c.4631G>T (p.Ser1544Ile)
c.3677G>T (p.Ser1226Ile)
n.4931G>T
c.4640G>T (p.Ser1547Ile)
n.5129G>T
2g.214980592C>GCA350461101ABCA12c.4631G>C (p.Ser1544Thr)
c.3677G>C (p.Ser1226Thr)
n.4931G>C
c.4640G>C (p.Ser1547Thr)
n.5129G>C
2g.214980592C>TCA350461102ABCA12c.4631G>A (p.Ser1544Asn)
c.3677G>A (p.Ser1226Asn)
n.4931G>A
c.4640G>A (p.Ser1547Asn)
n.5129G>A
2g.214980593T>ACA350461108ABCA12c.4630A>T (p.Ser1544Cys)
c.3676A>T (p.Ser1226Cys)
n.4930A>T
c.4639A>T (p.Ser1547Cys)
n.5128A>T
2g.214980593T>CCA350461106ABCA12c.4630A>G (p.Ser1544Gly)
c.3676A>G (p.Ser1226Gly)
n.4930A>G
c.4639A>G (p.Ser1547Gly)
n.5128A>G
2g.214980593T>GCA350461104ABCA12c.4630A>C (p.Ser1544Arg)
c.3676A>C (p.Ser1226Arg)
n.4930A>C
c.4639A>C (p.Ser1547Arg)
n.5128A>C
2g.214980594C>ACA431148923ABCA12c.4629G>T (p.Leu1543=)
c.3675G>T (p.Leu1225=)
n.4929G>T
c.4638G>T (p.Leu1546=)
n.5127G>T
2g.214980594C>GCA431148921ABCA12c.4629G>C (p.Leu1543=)
c.3675G>C (p.Leu1225=)
n.4929G>C
c.4638G>C (p.Leu1546=)
n.5127G>C
2g.214980594C>TCA431148920ABCA12c.4629G>A (p.Leu1543=)
c.3675G>A (p.Leu1225=)
n.4929G>A
c.4638G>A (p.Leu1546=)
n.5127G>A
 gnomAD v4 COSMIC COSMIC
2g.214980595A>CCA350461113ABCA12c.4628T>G (p.Leu1543Arg)
c.3674T>G (p.Leu1225Arg)
n.4928T>G
c.4637T>G (p.Leu1546Arg)
n.5126T>G
2g.214980595A>GCA350461110ABCA12c.4628T>C (p.Leu1543Pro)
c.3674T>C (p.Leu1225Pro)
n.4928T>C
c.4637T>C (p.Leu1546Pro)
n.5126T>C
2g.214980595A>TCA350461111ABCA12c.4628T>A (p.Leu1543Gln)
c.3674T>A (p.Leu1225Gln)
n.4928T>A
c.4637T>A (p.Leu1546Gln)
n.5126T>A
2g.214980596G>ACA2091428ABCA12c.4627C>T (p.Leu1543=)
c.3673C>T (p.Leu1225=)
n.4927C>T
c.4636C>T (p.Leu1546=)
n.5125C>T
 dbSNP ExAC gnomAD v4
2g.214980596G>CCA350461116ABCA12c.4627C>G (p.Leu1543Val)
c.3673C>G (p.Leu1225Val)
n.4927C>G
c.4636C>G (p.Leu1546Val)
n.5125C>G
2g.214980596G=CA1327161016ABCA12c.4627C= (p.Leu1543=)
c.3673C= (p.Leu1225=)
n.4927C=
c.4636C= (p.Leu1546=)
n.5125C=
2g.214980596G>TCA350461118ABCA12c.4627C>A (p.Leu1543Met)
c.3673C>A (p.Leu1225Met)
n.4927C>A
c.4636C>A (p.Leu1546Met)
n.5125C>A
2g.214980597C>ACA431148927ABCA12c.4626G>T (p.Val1542=)
c.3672G>T (p.Val1224=)
n.4926G>T
c.4635G>T (p.Val1545=)
n.5124G>T
 gnomAD v4
2g.214980597C>GCA431148929ABCA12c.4626G>C (p.Val1542=)
c.3672G>C (p.Val1224=)
n.4926G>C
c.4635G>C (p.Val1545=)
n.5124G>C
2g.214980597C>TCA431148928ABCA12c.4626G>A (p.Val1542=)
c.3672G>A (p.Val1224=)
n.4926G>A
c.4635G>A (p.Val1545=)
n.5124G>A
2g.214980598A>CCA350461123ABCA12c.4625T>G (p.Val1542Gly)
c.3671T>G (p.Val1224Gly)
n.4925T>G
c.4634T>G (p.Val1545Gly)
n.5123T>G
 gnomAD v4
2g.214980598A>GCA350461121ABCA12c.4625T>C (p.Val1542Ala)
c.3671T>C (p.Val1224Ala)
n.4925T>C
c.4634T>C (p.Val1545Ala)
n.5123T>C
2g.214980598A>TCA350461120ABCA12c.4625T>A (p.Val1542Glu)
c.3671T>A (p.Val1224Glu)
n.4925T>A
c.4634T>A (p.Val1545Glu)
n.5123T>A
2g.214980599C>ACA350461126ABCA12c.4624G>T (p.Val1542Leu)
c.3670G>T (p.Val1224Leu)
n.4924G>T
c.4633G>T (p.Val1545Leu)
n.5122G>T
2g.214980599C>GCA350461127ABCA12c.4624G>C (p.Val1542Leu)
c.3670G>C (p.Val1224Leu)
n.4924G>C
c.4633G>C (p.Val1545Leu)
n.5122G>C
 gnomAD v4
2g.214980599C>TCA350461129ABCA12c.4624G>A (p.Val1542Met)
c.3670G>A (p.Val1224Met)
n.4924G>A
c.4633G>A (p.Val1545Met)
n.5122G>A
2g.214980600T>ACA350461132ABCA12c.4623A>T (p.Glu1541Asp)
c.3669A>T (p.Glu1223Asp)
n.4923A>T
c.4632A>T (p.Glu1544Asp)
n.5121A>T
2g.214980600T>CCA2091429ABCA12c.4623A>G (p.Glu1541=)
c.3669A>G (p.Glu1223=)
n.4923A>G
c.4632A>G (p.Glu1544=)
n.5121A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980600T>GCA350461134ABCA12c.4623A>C (p.Glu1541Asp)
c.3669A>C (p.Glu1223Asp)
n.4923A>C
c.4632A>C (p.Glu1544Asp)
n.5121A>C
2g.214980600T=CA1327161017ABCA12c.4623A= (p.Glu1541=)
c.3669A= (p.Glu1223=)
n.4923A=
c.4632A= (p.Glu1544=)
n.5121A=
2g.214980601T>ACA350461137ABCA12c.4622A>T (p.Glu1541Val)
c.3668A>T (p.Glu1223Val)
n.4922A>T
c.4631A>T (p.Glu1544Val)
n.5120A>T
2g.214980601T>CCA350461140ABCA12c.4622A>G (p.Glu1541Gly)
c.3668A>G (p.Glu1223Gly)
n.4922A>G
c.4631A>G (p.Glu1544Gly)
n.5120A>G
2g.214980601T>GCA350461138ABCA12c.4622A>C (p.Glu1541Ala)
c.3668A>C (p.Glu1223Ala)
n.4922A>C
c.4631A>C (p.Glu1544Ala)
n.5120A>C
2g.214980602C>ACA350461143ABCA12c.4621G>T (p.Glu1541Ter)
c.3667G>T (p.Glu1223Ter)
n.4921G>T
c.4630G>T (p.Glu1544Ter)
n.5119G>T
2g.214980602C>GCA350461144ABCA12c.4621G>C (p.Glu1541Gln)
c.3667G>C (p.Glu1223Gln)
n.4921G>C
c.4630G>C (p.Glu1544Gln)
n.5119G>C
2g.214980602C>TCA350461145ABCA12c.4621G>A (p.Glu1541Lys)
c.3667G>A (p.Glu1223Lys)
n.4921G>A
c.4630G>A (p.Glu1544Lys)
n.5119G>A
2g.214980603A>CCA431148944ABCA12c.4620T>G (p.Ala1540=)
c.3666T>G (p.Ala1222=)
n.4920T>G
c.4629T>G (p.Ala1543=)
n.5118T>G
2g.214980603A>GCA431148945ABCA12c.4620T>C (p.Ala1540=)
c.3666T>C (p.Ala1222=)
n.4920T>C
c.4629T>C (p.Ala1543=)
n.5118T>C
 ClinVar gnomAD v4
2g.214980603A>TCA431148947ABCA12c.4620T>A (p.Ala1540=)
c.3666T>A (p.Ala1222=)
n.4920T>A
c.4629T>A (p.Ala1543=)
n.5118T>A
2g.214980604G>ACA2091430ABCA12c.4619C>T (p.Ala1540Val)
c.3665C>T (p.Ala1222Val)
n.4919C>T
c.4628C>T (p.Ala1543Val)
n.5117C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980604G>CCA350461148ABCA12c.4619C>G (p.Ala1540Gly)
c.3665C>G (p.Ala1222Gly)
n.4919C>G
c.4628C>G (p.Ala1543Gly)
n.5117C>G
2g.214980604G=CA1327161018ABCA12c.4619C= (p.Ala1540=)
c.3665C= (p.Ala1222=)
n.4919C=
c.4628C= (p.Ala1543=)
n.5117C=
2g.214980604G>TCA350461149ABCA12c.4619C>A (p.Ala1540Asp)
c.3665C>A (p.Ala1222Asp)
n.4919C>A
c.4628C>A (p.Ala1543Asp)
n.5117C>A
2g.214980605C>ACA2091432ABCA12c.4618G>T (p.Ala1540Ser)
c.3664G>T (p.Ala1222Ser)
n.4918G>T
c.4627G>T (p.Ala1543Ser)
n.5116G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980605C=CA1327161019ABCA12c.4618G= (p.Ala1540=)
c.3664G= (p.Ala1222=)
n.4918G=
c.4627G= (p.Ala1543=)
n.5116G=
2g.214980605C>GCA350461153ABCA12c.4618G>C (p.Ala1540Pro)
c.3664G>C (p.Ala1222Pro)
n.4918G>C
c.4627G>C (p.Ala1543Pro)
n.5116G>C
2g.214980605C>TCA2091431ABCA12c.4618G>A (p.Ala1540Thr)
c.3664G>A (p.Ala1222Thr)
n.4918G>A
c.4627G>A (p.Ala1543Thr)
n.5116G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980606C>ACA350461155ABCA12c.4617G>T (p.Glu1539Asp)
c.3663G>T (p.Glu1221Asp)
n.4917G>T
c.4626G>T (p.Glu1542Asp)
n.5115G>T
2g.214980606C>GCA350461157ABCA12c.4617G>C (p.Glu1539Asp)
c.3663G>C (p.Glu1221Asp)
n.4917G>C
c.4626G>C (p.Glu1542Asp)
n.5115G>C
 gnomAD v4
2g.214980606C>TCA431148956ABCA12c.4617G>A (p.Glu1539=)
c.3663G>A (p.Glu1221=)
n.4917G>A
c.4626G>A (p.Glu1542=)
n.5115G>A
 gnomAD v4
2g.214980607T>ACA350461161ABCA12c.4616A>T (p.Glu1539Val)
c.3662A>T (p.Glu1221Val)
n.4916A>T
c.4625A>T (p.Glu1542Val)
n.5114A>T
2g.214980607T>CCA350461163ABCA12c.4616A>G (p.Glu1539Gly)
c.3662A>G (p.Glu1221Gly)
n.4916A>G
c.4625A>G (p.Glu1542Gly)
n.5114A>G
2g.214980607T>GCA350461160ABCA12c.4616A>C (p.Glu1539Ala)
c.3662A>C (p.Glu1221Ala)
n.4916A>C
c.4625A>C (p.Glu1542Ala)
n.5114A>C
2g.214980608C>ACA350461165ABCA12c.4615G>T (p.Glu1539Ter)
c.3661G>T (p.Glu1221Ter)
n.4915G>T
c.4624G>T (p.Glu1542Ter)
n.5113G>T
2g.214980608C=CA1327161020ABCA12c.4615G= (p.Glu1539=)
c.3661G= (p.Glu1221=)
n.4915G=
c.4624G= (p.Glu1542=)
n.5113G=
2g.214980608C>GCA350461167ABCA12c.4615G>C (p.Glu1539Gln)
c.3661G>C (p.Glu1221Gln)
n.4915G>C
c.4624G>C (p.Glu1542Gln)
n.5113G>C
2g.214980608C>TCA252478ABCA12c.4615G>A (p.Glu1539Lys)
c.3661G>A (p.Glu1221Lys)
n.4915G>A
c.4624G>A (p.Glu1542Lys)
n.5113G>A
 ClinVar dbSNP gnomAD v4
2g.214980609G>ACA2091433ABCA12c.4614C>T (p.Asp1538=)
c.3660C>T (p.Asp1220=)
n.4914C>T
c.4623C>T (p.Asp1541=)
n.5112C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214980609G>CCA350461171ABCA12c.4614C>G (p.Asp1538Glu)
c.3660C>G (p.Asp1220Glu)
n.4914C>G
c.4623C>G (p.Asp1541Glu)
n.5112C>G
2g.214980609G=CA1327161021ABCA12c.4614C= (p.Asp1538=)
c.3660C= (p.Asp1220=)
n.4914C=
c.4623C= (p.Asp1541=)
n.5112C=
2g.214980609G>TCA350461173ABCA12c.4614C>A (p.Asp1538Glu)
c.3660C>A (p.Asp1220Glu)
n.4914C>A
c.4623C>A (p.Asp1541Glu)
n.5112C>A
2g.214980610T>ACA350461179ABCA12c.4613A>T (p.Asp1538Val)
c.3659A>T (p.Asp1220Val)
n.4913A>T
c.4622A>T (p.Asp1541Val)
n.5111A>T
 COSMIC COSMIC
2g.214980610T>CCA350461176ABCA12c.4613A>G (p.Asp1538Gly)
c.3659A>G (p.Asp1220Gly)
n.4913A>G
c.4622A>G (p.Asp1541Gly)
n.5111A>G
2g.214980610T>GCA350461177ABCA12c.4613A>C (p.Asp1538Ala)
c.3659A>C (p.Asp1220Ala)
n.4913A>C
c.4622A>C (p.Asp1541Ala)
n.5111A>C
2g.214980611C>ACA350461180ABCA12c.4612G>T (p.Asp1538Tyr)
c.3658G>T (p.Asp1220Tyr)
n.4912G>T
c.4621G>T (p.Asp1541Tyr)
n.5110G>T
2g.214980611C>GCA350461183ABCA12c.4612G>C (p.Asp1538His)
c.3658G>C (p.Asp1220His)
n.4912G>C
c.4621G>C (p.Asp1541His)
n.5110G>C
2g.214980611C>TCA350461185ABCA12c.4612G>A (p.Asp1538Asn)
c.3658G>A (p.Asp1220Asn)
n.4912G>A
c.4621G>A (p.Asp1541Asn)
n.5110G>A
2g.214980612C>ACA350461187ABCA12c.4611G>T (p.Leu1537Phe)
c.3657G>T (p.Leu1219Phe)
n.4911G>T
c.4620G>T (p.Leu1540Phe)
n.5109G>T
 gnomAD v4
2g.214980612C>GCA350461189ABCA12c.4611G>C (p.Leu1537Phe)
c.3657G>C (p.Leu1219Phe)
n.4911G>C
c.4620G>C (p.Leu1540Phe)
n.5109G>C
2g.214980612C>TCA431148967ABCA12c.4611G>A (p.Leu1537=)
c.3657G>A (p.Leu1219=)
n.4911G>A
c.4620G>A (p.Leu1540=)
n.5109G>A
2g.214980613A>CCA350461194ABCA12c.4610T>G (p.Leu1537Trp)
c.3656T>G (p.Leu1219Trp)
n.4910T>G
c.4619T>G (p.Leu1540Trp)
n.5108T>G
 gnomAD v4
2g.214980613A>GCA350461191ABCA12c.4610T>C (p.Leu1537Ser)
c.3656T>C (p.Leu1219Ser)
n.4910T>C
c.4619T>C (p.Leu1540Ser)
n.5108T>C
2g.214980613A>TCA350461192ABCA12c.4610T>A (p.Leu1537Ter)
c.3656T>A (p.Leu1219Ter)
n.4910T>A
c.4619T>A (p.Leu1540Ter)
n.5108T>A
2g.214980614A>CCA350461195ABCA12c.4609T>G (p.Leu1537Val)
c.3655T>G (p.Leu1219Val)
n.4909T>G
c.4618T>G (p.Leu1540Val)
n.5107T>G
2g.214980614A>GCA431148974ABCA12c.4609T>C (p.Leu1537=)
c.3655T>C (p.Leu1219=)
n.4909T>C
c.4618T>C (p.Leu1540=)
n.5107T>C
2g.214980614A>TCA350461196ABCA12c.4609T>A (p.Leu1537Met)
c.3655T>A (p.Leu1219Met)
n.4909T>A
c.4618T>A (p.Leu1540Met)
n.5107T>A
2g.214980615G>ACA431148975ABCA12c.4608C>T (p.His1536=)
c.3654C>T (p.His1218=)
n.4908C>T
c.4617C>T (p.His1539=)
n.5106C>T
2g.214980615G>CCA350461197ABCA12c.4608C>G (p.His1536Gln)
c.3654C>G (p.His1218Gln)
n.4908C>G
c.4617C>G (p.His1539Gln)
n.5106C>G
2g.214980615G>TCA350461198ABCA12c.4608C>A (p.His1536Gln)
c.3654C>A (p.His1218Gln)
n.4908C>A
c.4617C>A (p.His1539Gln)
n.5106C>A
2g.214980616T>ACA350461199ABCA12c.4607A>T (p.His1536Leu)
c.3653A>T (p.His1218Leu)
n.4907A>T
c.4616A>T (p.His1539Leu)
n.5105A>T
2g.214980616T>CCA64814940ABCA12c.4607A>G (p.His1536Arg)
c.3653A>G (p.His1218Arg)
n.4907A>G
c.4616A>G (p.His1539Arg)
n.5105A>G
 dbSNP gnomAD v3 gnomAD v4
2g.214980616T>GCA350461201ABCA12c.4607A>C (p.His1536Pro)
c.3653A>C (p.His1218Pro)
n.4907A>C
c.4616A>C (p.His1539Pro)
n.5105A>C
2g.214980616T=CA1327161022ABCA12c.4607A= (p.His1536=)
c.3653A= (p.His1218=)
n.4907A=
c.4616A= (p.His1539=)
n.5105A=
2g.214980617G>ACA350461203ABCA12c.4606C>T (p.His1536Tyr)
c.3652C>T (p.His1218Tyr)
n.4906C>T
c.4615C>T (p.His1539Tyr)
n.5104C>T
 gnomAD v4
2g.214980617G>CCA350461204ABCA12c.4606C>G (p.His1536Asp)
c.3652C>G (p.His1218Asp)
n.4906C>G
c.4615C>G (p.His1539Asp)
n.5104C>G
2g.214980617G>TCA350461206ABCA12c.4606C>A (p.His1536Asn)
c.3652C>A (p.His1218Asn)
n.4906C>A
c.4615C>A (p.His1539Asn)
n.5104C>A
2g.214980618G>ACA431148984ABCA12c.4605C>T (p.His1535=)
c.3651C>T (p.His1217=)
n.4905C>T
c.4614C>T (p.His1538=)
n.5103C>T
2g.214980618G>CCA350461208ABCA12c.4605C>G (p.His1535Gln)
c.3651C>G (p.His1217Gln)
n.4905C>G
c.4614C>G (p.His1538Gln)
n.5103C>G
 gnomAD v4
2g.214980618G>TCA350461209ABCA12c.4605C>A (p.His1535Gln)
c.3651C>A (p.His1217Gln)
n.4905C>A
c.4614C>A (p.His1538Gln)
n.5103C>A
2g.214980619T>ACA350461210ABCA12c.4604A>T (p.His1535Leu)
c.3650A>T (p.His1217Leu)
n.4904A>T
c.4613A>T (p.His1538Leu)
n.5102A>T
2g.214980619T>CCA350461214ABCA12c.4604A>G (p.His1535Arg)
c.3650A>G (p.His1217Arg)
n.4904A>G
c.4613A>G (p.His1538Arg)
n.5102A>G
2g.214980619T>GCA350461212ABCA12c.4604A>C (p.His1535Pro)
c.3650A>C (p.His1217Pro)
n.4904A>C
c.4613A>C (p.His1538Pro)
n.5102A>C
2g.214980620G>ACA350461216ABCA12c.4603C>T (p.His1535Tyr)
c.3649C>T (p.His1217Tyr)
n.4903C>T
c.4612C>T (p.His1538Tyr)
n.5101C>T
 ClinVar
2g.214980620G>CCA350461218ABCA12c.4603C>G (p.His1535Asp)
c.3649C>G (p.His1217Asp)
n.4903C>G
c.4612C>G (p.His1538Asp)
n.5101C>G
2g.214980620G>TCA350461220ABCA12c.4603C>A (p.His1535Asn)
c.3649C>A (p.His1217Asn)
n.4903C>A
c.4612C>A (p.His1538Asn)
n.5101C>A
2g.214980621C>ACA431148991ABCA12c.4602G>T (p.Thr1534=)
c.3648G>T (p.Thr1216=)
n.4902G>T
c.4611G>T (p.Thr1537=)
n.5100G>T
2g.214980621C=CA1327161023ABCA12c.4602G= (p.Thr1534=)
c.3648G= (p.Thr1216=)
n.4902G=
c.4611G= (p.Thr1537=)
n.5100G=
2g.214980621C>GCA431148993ABCA12c.4602G>C (p.Thr1534=)
c.3648G>C (p.Thr1216=)
n.4902G>C
c.4611G>C (p.Thr1537=)
n.5100G>C
2g.214980621C>TCA64814945ABCA12c.4602G>A (p.Thr1534=)
c.3648G>A (p.Thr1216=)
n.4902G>A
c.4611G>A (p.Thr1537=)
n.5100G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.214980622G>ACA2091434ABCA12c.4601C>T (p.Thr1534Met)
c.3647C>T (p.Thr1216Met)
n.4901C>T
c.4610C>T (p.Thr1537Met)
n.5099C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.214980622G>CCA350461223ABCA12c.4601C>G (p.Thr1534Arg)
c.3647C>G (p.Thr1216Arg)
n.4901C>G
c.4610C>G (p.Thr1537Arg)
n.5099C>G
2g.214980622G=CA1327161024ABCA12c.4601C= (p.Thr1534=)
c.3647C= (p.Thr1216=)
n.4901C=
c.4610C= (p.Thr1537=)
n.5099C=
2g.214980622G>TCA350461225ABCA12c.4601C>A (p.Thr1534Lys)
c.3647C>A (p.Thr1216Lys)
n.4901C>A
c.4610C>A (p.Thr1537Lys)
n.5099C>A
 COSMIC COSMIC
2g.214980623T>ACA350461228ABCA12c.4600A>T (p.Thr1534Ser)
c.3646A>T (p.Thr1216Ser)
n.4900A>T
c.4609A>T (p.Thr1537Ser)
n.5098A>T
2g.214980623T>CCA350461229ABCA12c.4600A>G (p.Thr1534Ala)
c.3646A>G (p.Thr1216Ala)
n.4900A>G
c.4609A>G (p.Thr1537Ala)
n.5098A>G
2g.214980623T>GCA350461232ABCA12c.4600A>C (p.Thr1534Pro)
c.3646A>C (p.Thr1216Pro)
n.4900A>C
c.4609A>C (p.Thr1537Pro)
n.5098A>C
2g.214980624T>ACA431148998ABCA12c.4599A>T (p.Ser1533=)
c.3645A>T (p.Ser1215=)
n.4899A>T
c.4608A>T (p.Ser1536=)
n.5097A>T
2g.214980624T>CCA431148999ABCA12c.4599A>G (p.Ser1533=)
c.3645A>G (p.Ser1215=)
n.4899A>G
c.4608A>G (p.Ser1536=)
n.5097A>G
 dbSNP
2g.214980624T>GCA431148997ABCA12c.4599A>C (p.Ser1533=)
c.3645A>C (p.Ser1215=)
n.4899A>C
c.4608A>C (p.Ser1536=)
n.5097A>C
2g.214980625G>ACA350461234ABCA12c.4598C>T (p.Ser1533Leu)
c.3644C>T (p.Ser1215Leu)
n.4898C>T
c.4607C>T (p.Ser1536Leu)
n.5096C>T
2g.214980625G>CCA350461235ABCA12c.4598C>G (p.Ser1533Ter)
c.3644C>G (p.Ser1215Ter)
n.4898C>G
c.4607C>G (p.Ser1536Ter)
n.5096C>G
2g.214980625G>TCA350461236ABCA12c.4598C>A (p.Ser1533Ter)
c.3644C>A (p.Ser1215Ter)
n.4898C>A
c.4607C>A (p.Ser1536Ter)
n.5096C>A
2g.214980626A>CCA350461239ABCA12c.4597T>G (p.Ser1533Ala)
c.3643T>G (p.Ser1215Ala)
n.4897T>G
c.4606T>G (p.Ser1536Ala)
n.5095T>G
2g.214980626A>GCA350461242ABCA12c.4597T>C (p.Ser1533Pro)
c.3643T>C (p.Ser1215Pro)
n.4897T>C
c.4606T>C (p.Ser1536Pro)
n.5095T>C
 ClinVar gnomAD v4
2g.214980626A>TCA350461240ABCA12c.4597T>A (p.Ser1533Thr)
c.3643T>A (p.Ser1215Thr)
n.4897T>A
c.4606T>A (p.Ser1536Thr)
n.5095T>A
2g.214980627C>ACA431149006ABCA12c.4596G>T (p.Leu1532=)
c.3642G>T (p.Leu1214=)
n.4896G>T
c.4605G>T (p.Leu1535=)
n.5094G>T
2g.214980627C>GCA431149007ABCA12c.4596G>C (p.Leu1532=)
c.3642G>C (p.Leu1214=)
n.4896G>C
c.4605G>C (p.Leu1535=)
n.5094G>C
2g.214980627C>TCA431149009ABCA12c.4596G>A (p.Leu1532=)
c.3642G>A (p.Leu1214=)
n.4896G>A
c.4605G>A (p.Leu1535=)
n.5094G>A
2g.214980628A=CA1327161025ABCA12c.4595T= (p.Leu1532=)
c.3641T= (p.Leu1214=)
n.4895T=
c.4604T= (p.Leu1535=)
n.5093T=
2g.214980628A>CCA350461244ABCA12c.4595T>G (p.Leu1532Arg)
c.3641T>G (p.Leu1214Arg)
n.4895T>G
c.4604T>G (p.Leu1535Arg)
n.5093T>G
2g.214980628A>GCA2091435ABCA12c.4595T>C (p.Leu1532Pro)
c.3641T>C (p.Leu1214Pro)
n.4895T>C
c.4604T>C (p.Leu1535Pro)
n.5093T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980628A>TCA350461246ABCA12c.4595T>A (p.Leu1532Gln)
c.3641T>A (p.Leu1214Gln)
n.4895T>A
c.4604T>A (p.Leu1535Gln)
n.5093T>A
2g.214980629G>ACA2091436ABCA12c.4594C>T (p.Leu1532=)
c.3640C>T (p.Leu1214=)
n.4894C>T
c.4603C>T (p.Leu1535=)
n.5092C>T
 dbSNP ExAC gnomAD v2
2g.214980629G>CCA350461250ABCA12c.4594C>G (p.Leu1532Val)
c.3640C>G (p.Leu1214Val)
n.4894C>G
c.4603C>G (p.Leu1535Val)
n.5092C>G
2g.214980629G=CA1327161026ABCA12c.4594C= (p.Leu1532=)
c.3640C= (p.Leu1214=)
n.4894C=
c.4603C= (p.Leu1535=)
n.5092C=
2g.214980629G>TCA350461251ABCA12c.4594C>A (p.Leu1532Met)
c.3640C>A (p.Leu1214Met)
n.4894C>A
c.4603C>A (p.Leu1535Met)
n.5092C>A
 gnomAD v4
2g.214980630A=CA1327161027ABCA12c.4593T= (p.Ile1531=)
c.3639T= (p.Ile1213=)
n.4893T=
c.4602T= (p.Ile1534=)
n.5091T=
2g.214980630A>CCA2091437ABCA12c.4593T>G (p.Ile1531Met)
c.3639T>G (p.Ile1213Met)
n.4893T>G
c.4602T>G (p.Ile1534Met)
n.5091T>G
 dbSNP ExAC gnomAD v4
2g.214980630A>GCA431149014ABCA12c.4593T>C (p.Ile1531=)
c.3639T>C (p.Ile1213=)
n.4893T>C
c.4602T>C (p.Ile1534=)
n.5091T>C
2g.214980630A>TCA431149016ABCA12c.4593T>A (p.Ile1531=)
c.3639T>A (p.Ile1213=)
n.4893T>A
c.4602T>A (p.Ile1534=)
n.5091T>A
2g.214980631A>CCA350461255ABCA12c.4592T>G (p.Ile1531Ser)
c.3638T>G (p.Ile1213Ser)
n.4892T>G
c.4601T>G (p.Ile1534Ser)
n.5090T>G
2g.214980631A>GCA350461256ABCA12c.4592T>C (p.Ile1531Thr)
c.3638T>C (p.Ile1213Thr)
n.4892T>C
c.4601T>C (p.Ile1534Thr)
n.5090T>C
2g.214980631A>TCA350461258ABCA12c.4592T>A (p.Ile1531Asn)
c.3638T>A (p.Ile1213Asn)
n.4892T>A
c.4601T>A (p.Ile1534Asn)
n.5090T>A
2g.214980632T>ACA350461264ABCA12c.4591A>T (p.Ile1531Phe)
c.3637A>T (p.Ile1213Phe)
n.4891A>T
c.4600A>T (p.Ile1534Phe)
n.5089A>T
 ClinVar
2g.214980632T>CCA350461262ABCA12c.4591A>G (p.Ile1531Val)
c.3637A>G (p.Ile1213Val)
n.4891A>G
c.4600A>G (p.Ile1534Val)
n.5089A>G
 gnomAD v4
2g.214980632T>GCA350461261ABCA12c.4591A>C (p.Ile1531Leu)
c.3637A>C (p.Ile1213Leu)
n.4891A>C
c.4600A>C (p.Ile1534Leu)
n.5089A>C
2g.214980633G>ACA431149021ABCA12c.4590C>T (p.Ile1530=)
c.3636C>T (p.Ile1212=)
n.4890C>T
c.4599C>T (p.Ile1533=)
n.5088C>T
 gnomAD v4
2g.214980633G>CCA2091438ABCA12c.4590C>G (p.Ile1530Met)
c.3636C>G (p.Ile1212Met)
n.4890C>G
c.4599C>G (p.Ile1533Met)
n.5088C>G
 dbSNP ExAC
2g.214980633G=CA1327161028ABCA12c.4590C= (p.Ile1530=)
c.3636C= (p.Ile1212=)
n.4890C=
c.4599C= (p.Ile1533=)
n.5088C=
2g.214980633G>TCA431149024ABCA12c.4590C>A (p.Ile1530=)
c.3636C>A (p.Ile1212=)
n.4890C>A
c.4599C>A (p.Ile1533=)
n.5088C>A
2g.214980634A=CA1327161029ABCA12c.4589T= (p.Ile1530=)
c.3635T= (p.Ile1212=)
n.4889T=
c.4598T= (p.Ile1533=)
n.5087T=
2g.214980634A>CCA350461269ABCA12c.4589T>G (p.Ile1530Ser)
c.3635T>G (p.Ile1212Ser)
n.4889T>G
c.4598T>G (p.Ile1533Ser)
n.5087T>G
2g.214980634A>GCA350461267ABCA12c.4589T>C (p.Ile1530Thr)
c.3635T>C (p.Ile1212Thr)
n.4889T>C
c.4598T>C (p.Ile1533Thr)
n.5087T>C
2g.214980634A>TCA2091439ABCA12c.4589T>A (p.Ile1530Asn)
c.3635T>A (p.Ile1212Asn)
n.4889T>A
c.4598T>A (p.Ile1533Asn)
n.5087T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.214980635T>ACA350461272ABCA12c.4588A>T (p.Ile1530Phe)
c.3634A>T (p.Ile1212Phe)
n.4888A>T
c.4597A>T (p.Ile1533Phe)
n.5086A>T
2g.214980635T>CCA2091440ABCA12c.4588A>G (p.Ile1530Val)
c.3634A>G (p.Ile1212Val)
n.4888A>G
c.4597A>G (p.Ile1533Val)
n.5086A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980635T>GCA350461275ABCA12c.4588A>C (p.Ile1530Leu)
c.3634A>C (p.Ile1212Leu)
n.4888A>C
c.4597A>C (p.Ile1533Leu)
n.5086A>C
2g.214980635T=CA1327161030ABCA12c.4588A= (p.Ile1530=)
c.3634A= (p.Ile1212=)
n.4888A=
c.4597A= (p.Ile1533=)
n.5086A=
2g.214980636T>ACA431149028ABCA12c.4587A>T (p.Thr1529=)
c.3633A>T (p.Thr1211=)
n.4887A>T
c.4596A>T (p.Thr1532=)
n.5085A>T
2g.214980636T>CCA431149029ABCA12c.4587A>G (p.Thr1529=)
c.3633A>G (p.Thr1211=)
n.4887A>G
c.4596A>G (p.Thr1532=)
n.5085A>G
 ClinVar dbSNP
2g.214980636T>GCA431149031ABCA12c.4587A>C (p.Thr1529=)
c.3633A>C (p.Thr1211=)
n.4887A>C
c.4596A>C (p.Thr1532=)
n.5085A>C
2g.214980636T=CA1327161031ABCA12c.4587A= (p.Thr1529=)
c.3633A= (p.Thr1211=)
n.4887A=
c.4596A= (p.Thr1532=)
n.5085A=
2g.214980637G>ACA350461277ABCA12c.4586C>T (p.Thr1529Ile)
c.3632C>T (p.Thr1211Ile)
n.4886C>T
c.4595C>T (p.Thr1532Ile)
n.5084C>T
2g.214980637G>CCA350461279ABCA12c.4586C>G (p.Thr1529Arg)
c.3632C>G (p.Thr1211Arg)
n.4886C>G
c.4595C>G (p.Thr1532Arg)
n.5084C>G
2g.214980637G>TCA350461281ABCA12c.4586C>A (p.Thr1529Lys)
c.3632C>A (p.Thr1211Lys)
n.4886C>A
c.4595C>A (p.Thr1532Lys)
n.5084C>A
2g.214980638T>ACA350461283ABCA12c.4585A>T (p.Thr1529Ser)
c.3631A>T (p.Thr1211Ser)
n.4885A>T
c.4594A>T (p.Thr1532Ser)
n.5083A>T
2g.214980638T>CCA350461284ABCA12c.4585A>G (p.Thr1529Ala)
c.3631A>G (p.Thr1211Ala)
n.4885A>G
c.4594A>G (p.Thr1532Ala)
n.5083A>G
 dbSNP gnomAD v2 gnomAD v4
2g.214980638T>GCA350461285ABCA12c.4585A>C (p.Thr1529Pro)
c.3631A>C (p.Thr1211Pro)
n.4885A>C
c.4594A>C (p.Thr1532Pro)
n.5083A>C
2g.214980638T=CA1327161032ABCA12c.4585A= (p.Thr1529=)
c.3631A= (p.Thr1211=)
n.4885A=
c.4594A= (p.Thr1532=)
n.5083A=
2g.214980639T>ACA350461286ABCA12c.4584A>T (p.Arg1528Ser)
c.3630A>T (p.Arg1210Ser)
n.4884A>T
c.4593A>T (p.Arg1531Ser)
n.5082A>T
2g.214980639T>CCA431149039ABCA12c.4584A>G (p.Arg1528=)
c.3630A>G (p.Arg1210=)
n.4884A>G
c.4593A>G (p.Arg1531=)
n.5082A>G
2g.214980639T>GCA350461287ABCA12c.4584A>C (p.Arg1528Ser)
c.3630A>C (p.Arg1210Ser)
n.4884A>C
c.4593A>C (p.Arg1531Ser)
n.5082A>C
2g.214980640C>ACA350461289ABCA12c.4583G>T (p.Arg1528Ile)
c.3629G>T (p.Arg1210Ile)
n.4883G>T
c.4592G>T (p.Arg1531Ile)
n.5081G>T
2g.214980640C=CA1327161033ABCA12c.4583G= (p.Arg1528=)
c.3629G= (p.Arg1210=)
n.4883G=
c.4592G= (p.Arg1531=)
n.5081G=
2g.214980640C>GCA350461290ABCA12c.4583G>C (p.Arg1528Thr)
c.3629G>C (p.Arg1210Thr)
n.4883G>C
c.4592G>C (p.Arg1531Thr)
n.5081G>C
 dbSNP
2g.214980640C>TCA350461291ABCA12c.4583G>A (p.Arg1528Lys)
c.3629G>A (p.Arg1210Lys)
n.4883G>A
c.4592G>A (p.Arg1531Lys)
n.5081G>A
2g.214980641T>ACA350461294ABCA12c.4582A>T (p.Arg1528Ter)
c.3628A>T (p.Arg1210Ter)
n.4882A>T
c.4591A>T (p.Arg1531Ter)
n.5080A>T
2g.214980641T>CCA350461295ABCA12c.4582A>G (p.Arg1528Gly)
c.3628A>G (p.Arg1210Gly)
n.4882A>G
c.4591A>G (p.Arg1531Gly)
n.5080A>G
 gnomAD v4
2g.214980641T>GCA431149045ABCA12c.4582A>C (p.Arg1528=)
c.3628A>C (p.Arg1210=)
n.4882A>C
c.4591A>C (p.Arg1531=)
n.5080A>C
 gnomAD v4
2g.214980642G>ACA431149047ABCA12c.4581C>T (p.Ala1527=)
c.3627C>T (p.Ala1209=)
n.4881C>T
c.4590C>T (p.Ala1530=)
n.5079C>T
2g.214980642G>CCA431149049ABCA12c.4581C>G (p.Ala1527=)
c.3627C>G (p.Ala1209=)
n.4881C>G
c.4590C>G (p.Ala1530=)
n.5079C>G
2g.214980642G>TCA431149050ABCA12c.4581C>A (p.Ala1527=)
c.3627C>A (p.Ala1209=)
n.4881C>A
c.4590C>A (p.Ala1530=)
n.5079C>A
2g.214980643G>ACA350461297ABCA12c.4580C>T (p.Ala1527Val)
c.3626C>T (p.Ala1209Val)
n.4880C>T
c.4589C>T (p.Ala1530Val)
n.5078C>T
 dbSNP gnomAD v2 gnomAD v4
2g.214980643G>CCA350461299ABCA12c.4580C>G (p.Ala1527Gly)
c.3626C>G (p.Ala1209Gly)
n.4880C>G
c.4589C>G (p.Ala1530Gly)
n.5078C>G
2g.214980643G=CA1327161034ABCA12c.4580C= (p.Ala1527=)
c.3626C= (p.Ala1209=)
n.4880C=
c.4589C= (p.Ala1530=)
n.5078C=
2g.214980643G>TCA350461301ABCA12c.4580C>A (p.Ala1527Asp)
c.3626C>A (p.Ala1209Asp)
n.4880C>A
c.4589C>A (p.Ala1530Asp)
n.5078C>A
 gnomAD v4
2g.214980644C>ACA350461304ABCA12c.4580-1G>T (n.4580-1G>T)
c.3626-1G>T (n.3626-1G>T)
n.4880-1G>T
c.4589-1G>T (n.4589-1G>T)
n.5078-1G>T
2g.214980644C>GCA350461306ABCA12c.4580-1G>C (n.4580-1G>C)
c.3626-1G>C (n.3626-1G>C)
n.4880-1G>C
c.4589-1G>C (n.4589-1G>C)
n.5078-1G>C
2g.214980644C>TCA350461307ABCA12c.4580-1G>A (n.4580-1G>A)
c.3626-1G>A (n.3626-1G>A)
n.4880-1G>A
c.4589-1G>A (n.4589-1G>A)
n.5078-1G>A
2g.214980645T>ACA350461308ABCA12c.4580-2A>T (n.4580-2A>T)
c.3626-2A>T (n.3626-2A>T)
n.4880-2A>T
c.4589-2A>T (n.4589-2A>T)
n.5078-2A>T
2g.214980645T>CCA350461309ABCA12c.4580-2A>G (n.4580-2A>G)
c.3626-2A>G (n.3626-2A>G)
n.4880-2A>G
c.4589-2A>G (n.4589-2A>G)
n.5078-2A>G
 gnomAD v4
2g.214980645T>GCA350461310ABCA12c.4580-2A>C (n.4580-2A>C)
c.3626-2A>C (n.3626-2A>C)
n.4880-2A>C
c.4589-2A>C (n.4589-2A>C)
n.5078-2A>C
2g.214980648_214980651delCA2830535380ABCA12c.4580-8_4580-5del (n.4580-8_4580-5del)
c.3626-8_3626-5del (n.3626-8_3626-5del)
n.4880-8_4880-5del
c.4589-8_4589-5del (n.4589-8_4589-5del)
n.5078-8_5078-5del
2g.214980649A=CA1327161035ABCA12c.4580-6T= (n.4580-6T=)
c.3626-6T= (n.3626-6T=)
n.4880-6T=
c.4589-6T= (n.4589-6T=)
n.5078-6T=
2g.214980650A>CCA2577234979ABCA12c.4580-7T>G (n.4580-7T>G)
c.3626-7T>G (n.3626-7T>G)
n.4880-7T>G
c.4589-7T>G (n.4589-7T>G)
n.5078-7T>G
 gnomAD v4
2g.214980651_214980653dupCA2091441ABCA12c.4580-9_4580-7dup (n.4580-9_4580-7dup)
c.3626-9_3626-7dup (n.3626-9_3626-7dup)
n.4880-9_4880-7dup
c.4589-9_4589-7dup (n.4589-9_4589-7dup)
n.5078-9_5078-7dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980652T>CCA2662978480ABCA12c.4580-9A>G (n.4580-9A>G)
c.3626-9A>G (n.3626-9A>G)
n.4880-9A>G
c.4589-9A>G (n.4589-9A>G)
n.5078-9A>G
 gnomAD v4
2g.214980653_214980654insTTTTCA2830535382ABCA12c.4580-11_4580-10insAAAA (n.4580-11_4580-10insAAAA)
c.3626-11_3626-10insAAAA (n.3626-11_3626-10insAAAA)
n.4880-11_4880-10insAAAA
c.4589-11_4589-10insAAAA (n.4589-11_4589-10insAAAA)
n.5078-11_5078-10insAAAA
2g.214980656delCA2662978481ABCA12c.4580-13del (n.4580-13del)
c.3626-13del (n.3626-13del)
n.4880-13del
c.4589-13del (n.4589-13del)
n.5078-13del
 gnomAD v4
2g.214980656G>ACA2830535383ABCA12c.4580-13C>T (n.4580-13C>T)
c.3626-13C>T (n.3626-13C>T)
n.4880-13C>T
c.4589-13C>T (n.4589-13C>T)
n.5078-13C>T
2g.214980657A>GCA2830535384ABCA12c.4580-14T>C (n.4580-14T>C)
c.3626-14T>C (n.3626-14T>C)
n.4880-14T>C
c.4589-14T>C (n.4589-14T>C)
n.5078-14T>C
2g.214980659A=CA1327161036ABCA12c.4580-16T= (n.4580-16T=)
c.3626-16T= (n.3626-16T=)
n.4880-16T=
c.4589-16T= (n.4589-16T=)
n.5078-16T=
2g.214980659A>CCA2830535385ABCA12c.4580-16T>G (n.4580-16T>G)
c.3626-16T>G (n.3626-16T>G)
n.4880-16T>G
c.4589-16T>G (n.4589-16T>G)
n.5078-16T>G
2g.214980659A>GCA539536887ABCA12c.4580-16T>C (n.4580-16T>C)
c.3626-16T>C (n.3626-16T>C)
n.4880-16T>C
c.4589-16T>C (n.4589-16T>C)
n.5078-16T>C
 dbSNP gnomAD v2 gnomAD v4
2g.214980660delCA2662978482ABCA12c.4580-16del (n.4580-16del)
c.3626-16del (n.3626-16del)
n.4880-16del
c.4589-16del (n.4589-16del)
n.5078-16del
 gnomAD v4
2g.214980661G=CA1327161037ABCA12c.4580-18C= (n.4580-18C=)
c.3626-18C= (n.3626-18C=)
n.4880-18C=
c.4589-18C= (n.4589-18C=)
n.5078-18C=
2g.214980661G>TCA764597850ABCA12c.4580-18C>A (n.4580-18C>A)
c.3626-18C>A (n.3626-18C>A)
n.4880-18C>A
c.4589-18C>A (n.4589-18C>A)
n.5078-18C>A
 dbSNP gnomAD v3 gnomAD v4
2g.214980663A>CCA2577234980ABCA12c.4580-20T>G (n.4580-20T>G)
c.3626-20T>G (n.3626-20T>G)
n.4880-20T>G
c.4589-20T>G (n.4589-20T>G)
n.5078-20T>G
2g.214980664delCA2662978483ABCA12c.4580-21del (n.4580-21del)
c.3626-21del (n.3626-21del)
n.4880-21del
c.4589-21del (n.4589-21del)
n.5078-21del
 gnomAD v4
2g.214980664C>TCA2662978484ABCA12c.4580-21G>A (n.4580-21G>A)
c.3626-21G>A (n.3626-21G>A)
n.4880-21G>A
c.4589-21G>A (n.4589-21G>A)
n.5078-21G>A
 gnomAD v4
2g.214980665A=CA1327161038ABCA12c.4580-22T= (n.4580-22T=)
c.3626-22T= (n.3626-22T=)
n.4880-22T=
c.4589-22T= (n.4589-22T=)
n.5078-22T=
2g.214980665A>GCA64815008ABCA12c.4580-22T>C (n.4580-22T>C)
c.3626-22T>C (n.3626-22T>C)
n.4880-22T>C
c.4589-22T>C (n.4589-22T>C)
n.5078-22T>C
 dbSNP gnomAD v4
2g.214980665A>TCA2662978485ABCA12c.4580-22T>A (n.4580-22T>A)
c.3626-22T>A (n.3626-22T>A)
n.4880-22T>A
c.4589-22T>A (n.4589-22T>A)
n.5078-22T>A
 gnomAD v4
2g.214980666_214980667insTCA2830535387ABCA12c.4580-24_4580-23insA (n.4580-24_4580-23insA)
c.3626-24_3626-23insA (n.3626-24_3626-23insA)
n.4880-24_4880-23insA
c.4589-24_4589-23insA (n.4589-24_4589-23insA)
n.5078-24_5078-23insA
2g.214980667C>ACA64815009ABCA12c.4580-24G>T (n.4580-24G>T)
c.3626-24G>T (n.3626-24G>T)
n.4880-24G>T
c.4589-24G>T (n.4589-24G>T)
n.5078-24G>T
 dbSNP gnomAD v3 gnomAD v4
2g.214980667C=CA1327161039ABCA12c.4580-24G= (n.4580-24G=)
c.3626-24G= (n.3626-24G=)
n.4880-24G=
c.4589-24G= (n.4589-24G=)
n.5078-24G=
2g.214980667C>TCA2091442ABCA12c.4580-24G>A (n.4580-24G>A)
c.3626-24G>A (n.3626-24G>A)
n.4880-24G>A
c.4589-24G>A (n.4589-24G>A)
n.5078-24G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.214980668A>GCA2662978487ABCA12c.4580-25T>C (n.4580-25T>C)
c.3626-25T>C (n.3626-25T>C)
n.4880-25T>C
c.4589-25T>C (n.4589-25T>C)
n.5078-25T>C
 gnomAD v4
2g.214980668_214980669insTTCTCA2830535388ABCA12c.4580-26_4580-25insAGAA (n.4580-26_4580-25insAGAA)
c.3626-26_3626-25insAGAA (n.3626-26_3626-25insAGAA)
n.4880-26_4880-25insAGAA
c.4589-26_4589-25insAGAA (n.4589-26_4589-25insAGAA)
n.5078-26_5078-25insAGAA
2g.214980669G>ACA2662978488ABCA12c.4580-26C>T (n.4580-26C>T)
c.3626-26C>T (n.3626-26C>T)
n.4880-26C>T
c.4589-26C>T (n.4589-26C>T)
n.5078-26C>T
 gnomAD v4
2g.214980669G>TCA2662978489ABCA12c.4580-26C>A (n.4580-26C>A)
c.3626-26C>A (n.3626-26C>A)
n.4880-26C>A
c.4589-26C>A (n.4589-26C>A)
n.5078-26C>A
 gnomAD v4
2g.214980670G>ACA2662978490ABCA12c.4580-27C>T (n.4580-27C>T)
c.3626-27C>T (n.3626-27C>T)
n.4880-27C>T
c.4589-27C>T (n.4589-27C>T)
n.5078-27C>T
 gnomAD v4
2g.214980671G>ACA1327161041ABCA12c.4580-28C>T (n.4580-28C>T)
c.3626-28C>T (n.3626-28C>T)
n.4880-28C>T
c.4589-28C>T (n.4589-28C>T)
n.5078-28C>T
 dbSNP
2g.214980671G>CCA2662978491ABCA12c.4580-28C>G (n.4580-28C>G)
c.3626-28C>G (n.3626-28C>G)
n.4880-28C>G
c.4589-28C>G (n.4589-28C>G)
n.5078-28C>G
 gnomAD v4
2g.214980671G=CA1327161040ABCA12c.4580-28C= (n.4580-28C=)
c.3626-28C= (n.3626-28C=)
n.4880-28C=
c.4589-28C= (n.4589-28C=)
n.5078-28C=
2g.214980671G>TCA2662978492ABCA12c.4580-28C>A (n.4580-28C>A)
c.3626-28C>A (n.3626-28C>A)
n.4880-28C>A
c.4589-28C>A (n.4589-28C>A)
n.5078-28C>A
 gnomAD v4

Number of alleles fetched