Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.74493291_74493301dupCA1982908710LIPT2c.407_417dup (p.Pro140AlafsTer12)
c.19_29dup
c.181+170_181+180dup
c.237+170_237+180dup (n.237+170_237+180dup)
 dbSNP
11g.74493290C>ACA475888306LIPT2c.414G>T (p.Arg138=)
c.26G>T
c.181+177G>T
c.237+177G>T (n.237+177G>T)
 gnomAD v4
11g.74493290C=CA1982908712LIPT2c.414G= (p.Arg138=)
c.26G=
c.181+177G=
c.237+177G= (n.237+177G=)
11g.74493290C>GCA475888307LIPT2c.414G>C (p.Arg138=)
c.26G>C
c.181+177G>C
c.237+177G>C (n.237+177G>C)
 dbSNP gnomAD v3 gnomAD v4
11g.74493290C>TCA6184918LIPT2c.414G>A (p.Arg138=)
c.26G>A
c.181+177G>A
c.237+177G>A (n.237+177G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.74493291C>ACA381976446LIPT2c.413G>T (p.Arg138Leu)
c.25G>T
c.181+176G>T
c.237+176G>T (n.237+176G>T)
 dbSNP gnomAD v4
11g.74493291C=CA1982908713LIPT2c.413G= (p.Arg138=)
c.25G=
c.181+176G=
c.237+176G= (n.237+176G=)
11g.74493291C>GCA381976447LIPT2c.413G>C (p.Arg138Pro)
c.25G>C
c.181+176G>C
c.237+176G>C (n.237+176G>C)
 dbSNP gnomAD v3 gnomAD v4
11g.74493291C>TCA381976448LIPT2c.413G>A (p.Arg138Gln)
c.25G>A
c.181+176G>A
c.237+176G>A (n.237+176G>A)
 gnomAD v4
11g.74493292G>ACA381976449LIPT2c.412C>T (p.Arg138Trp)
c.24C>T
c.181+175C>T
c.237+175C>T (n.237+175C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.74493292G>CCA381976450LIPT2c.412C>G (p.Arg138Gly)
c.24C>G
c.181+175C>G
c.237+175C>G (n.237+175C>G)
11g.74493292G=CA1982908714LIPT2c.412C= (p.Arg138=)
c.24C=
c.181+175C=
c.237+175C= (n.237+175C=)
11g.74493292G>TCA475888308LIPT2c.412C>A (p.Arg138=)
c.24C>A
c.181+175C>A
c.237+175C>A (n.237+175C>A)
11g.74493293C>ACA475888309LIPT2c.411G>T (p.Ala137=)
c.23G>T
c.181+174G>T
c.237+174G>T (n.237+174G>T)
 gnomAD v4
11g.74493293C>GCA475888310LIPT2c.411G>C (p.Ala137=)
c.23G>C
c.181+174G>C
c.237+174G>C (n.237+174G>C)
11g.74493293C>TCA475888311LIPT2c.411G>A (p.Ala137=)
c.23G>A
c.181+174G>A
c.237+174G>A (n.237+174G>A)
 gnomAD v4
11g.74493294G>ACA381976451LIPT2c.410C>T (p.Ala137Val)
c.22C>T
c.181+173C>T
c.237+173C>T (n.237+173C>T)
 gnomAD v4
11g.74493294G>CCA381976452LIPT2c.410C>G (p.Ala137Gly)
c.22C>G
c.181+173C>G
c.237+173C>G (n.237+173C>G)
11g.74493294G>TCA381976453LIPT2c.410C>A (p.Ala137Glu)
c.22C>A
c.181+173C>A
c.237+173C>A (n.237+173C>A)
 gnomAD v4
11g.74493295C>ACA381976454LIPT2c.409G>T (p.Ala137Ser)
c.21G>T
c.181+172G>T
c.237+172G>T (n.237+172G>T)
 gnomAD v4
11g.74493295C=CA1982908715LIPT2c.409G= (p.Ala137=)
c.21G=
c.181+172G=
c.237+172G= (n.237+172G=)
11g.74493295C>GCA381976455LIPT2c.409G>C (p.Ala137Pro)
c.21G>C
c.181+172G>C
c.237+172G>C (n.237+172G>C)
11g.74493295C>TCA224979278LIPT2c.409G>A (p.Ala137Thr)
c.21G>A
c.181+172G>A
c.237+172G>A (n.237+172G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493296G>ACA475888312LIPT2c.408C>T (p.Arg136=)
c.20C>T
c.181+171C>T
c.237+171C>T (n.237+171C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.74493296G>CCA475888313LIPT2c.408C>G (p.Arg136=)
c.20C>G
c.181+171C>G
c.237+171C>G (n.237+171C>G)
 gnomAD v4
11g.74493296G=CA1982908716LIPT2c.408C= (p.Arg136=)
c.20C=
c.181+171C=
c.237+171C= (n.237+171C=)
11g.74493296G>TCA475888314LIPT2c.408C>A (p.Arg136=)
c.20C>A
c.181+171C>A
c.237+171C>A (n.237+171C>A)
 gnomAD v4
11g.74493297C>ACA381976457LIPT2c.407G>T (p.Arg136Leu)
c.19G>T
c.181+170G>T
c.237+170G>T (n.237+170G>T)
 gnomAD v4
11g.74493297C>GCA381976458LIPT2c.407G>C (p.Arg136Pro)
c.19G>C
c.181+170G>C
c.237+170G>C (n.237+170G>C)
11g.74493297C>TCA381976456LIPT2c.407G>A (p.Arg136His)
c.19G>A
c.181+170G>A
c.237+170G>A (n.237+170G>A)
 gnomAD v4
11g.74493298G>ACA381976459LIPT2c.406C>T (p.Arg136Cys)
c.18C>T
c.181+169C>T
c.237+169C>T (n.237+169C>T)
 gnomAD v4
11g.74493298G>CCA381976460LIPT2c.406C>G (p.Arg136Gly)
c.18C>G
c.181+169C>G
c.237+169C>G (n.237+169C>G)
 dbSNP gnomAD v3 gnomAD v4
11g.74493298G=CA1982908717LIPT2c.406C= (p.Arg136=)
c.18C=
c.181+169C=
c.237+169C= (n.237+169C=)
11g.74493298G>TCA381976461LIPT2c.406C>A (p.Arg136Ser)
c.18C>A
c.181+169C>A
c.237+169C>A (n.237+169C>A)
11g.74493299G>ACA475888315LIPT2c.405C>T (p.Ala135=)
c.17C>T
c.181+168C>T
c.237+168C>T (n.237+168C>T)
 dbSNP
11g.74493299G>CCA475888316LIPT2c.405C>G (p.Ala135=)
c.17C>G
c.181+168C>G
c.237+168C>G (n.237+168C>G)
11g.74493299G=CA1982908718LIPT2c.405C= (p.Ala135=)
c.17C=
c.181+168C=
c.237+168C= (n.237+168C=)
11g.74493299G>TCA475888317LIPT2c.405C>A (p.Ala135=)
c.17C>A
c.181+168C>A
c.237+168C>A (n.237+168C>A)
 gnomAD v4
11g.74493300G>ACA381976462LIPT2c.404C>T (p.Ala135Val)
c.16C>T
c.181+167C>T
c.237+167C>T (n.237+167C>T)
 dbSNP gnomAD v4
11g.74493300G>CCA381976463LIPT2c.404C>G (p.Ala135Gly)
c.16C>G
c.181+167C>G
c.237+167C>G (n.237+167C>G)
11g.74493300G>TCA381976464LIPT2c.404C>A (p.Ala135Asp)
c.16C>A
c.181+167C>A
c.237+167C>A (n.237+167C>A)
 gnomAD v4
11g.74493301C>ACA381976467LIPT2c.403G>T (p.Ala135Ser)
c.15G>T
c.181+166G>T
c.237+166G>T (n.237+166G>T)
 gnomAD v4
11g.74493301C=CA1982908719LIPT2c.403G= (p.Ala135=)
c.15G=
c.181+166G=
c.237+166G= (n.237+166G=)
11g.74493301C>GCA381976465LIPT2c.403G>C (p.Ala135Pro)
c.15G>C
c.181+166G>C
c.237+166G>C (n.237+166G>C)
11g.74493301C>TCA381976466LIPT2c.403G>A (p.Ala135Thr)
c.15G>A
c.181+166G>A
c.237+166G>A (n.237+166G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.74493302G>ACA475888318LIPT2c.402C>T (p.Asp134=)
c.14C>T
c.181+165C>T
c.237+165C>T (n.237+165C>T)
 gnomAD v4
11g.74493302G>CCA381976468LIPT2c.402C>G (p.Asp134Glu)
c.14C>G
c.181+165C>G
c.237+165C>G (n.237+165C>G)
11g.74493302G=CA1982908720LIPT2c.402C= (p.Asp134=)
c.14C=
c.181+165C=
c.237+165C= (n.237+165C=)
11g.74493302G>TCA381976469LIPT2c.402C>A (p.Asp134Glu)
c.14C>A
c.181+165C>A
c.237+165C>A (n.237+165C>A)
 dbSNP
11g.74493303T>ACA381976470LIPT2c.401A>T (p.Asp134Val)
c.13A>T
c.181+164A>T
c.237+164A>T (n.237+164A>T)
 gnomAD v4
11g.74493303T>CCA381976471LIPT2c.401A>G (p.Asp134Gly)
c.13A>G
c.181+164A>G
c.237+164A>G (n.237+164A>G)
 gnomAD v4
11g.74493303T>GCA224979279LIPT2c.401A>C (p.Asp134Ala)
c.13A>C
c.181+164A>C
c.237+164A>C (n.237+164A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493303T=CA1982908721LIPT2c.401A= (p.Asp134=)
c.13A=
c.181+164A=
c.237+164A= (n.237+164A=)
11g.74493304C>ACA381976474LIPT2c.400G>T (p.Asp134Tyr)
c.12G>T
c.181+163G>T
c.237+163G>T (n.237+163G>T)
 gnomAD v4
11g.74493304C>GCA381976472LIPT2c.400G>C (p.Asp134His)
c.12G>C
c.181+163G>C
c.237+163G>C (n.237+163G>C)
11g.74493304C>TCA381976473LIPT2c.400G>A (p.Asp134Asn)
c.12G>A
c.181+163G>A
c.237+163G>A (n.237+163G>A)
11g.74493305delCA2615095589LIPT2c.400del (p.Asp134ThrfsTer14)
c.12del
c.181+163del
c.237+163del (n.237+163del)
 gnomAD v4
11g.74493305C>ACA381976475LIPT2c.399G>T (p.Gln133His)
c.11G>T
c.181+162G>T
c.237+162G>T (n.237+162G>T)
 gnomAD v4
11g.74493305C=CA1982908722LIPT2c.399G= (p.Gln133=)
c.11G=
c.181+162G=
c.237+162G= (n.237+162G=)
11g.74493305C>GCA381976476LIPT2c.399G>C (p.Gln133His)
c.11G>C
c.181+162G>C
c.237+162G>C (n.237+162G>C)
11g.74493305C>TCA475888319LIPT2c.399G>A (p.Gln133=)
c.11G>A
c.181+162G>A
c.237+162G>A (n.237+162G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.74493306T>ACA381976477LIPT2c.398A>T (p.Gln133Leu)
c.10A>T
c.181+161A>T
c.237+161A>T (n.237+161A>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493306T>CCA381976478LIPT2c.398A>G (p.Gln133Arg)
c.10A>G
c.181+161A>G
c.237+161A>G (n.237+161A>G)
 dbSNP gnomAD v4
11g.74493306T>GCA381976479LIPT2c.398A>C (p.Gln133Pro)
c.10A>C
c.181+161A>C
c.237+161A>C (n.237+161A>C)
11g.74493306T=CA1982908723LIPT2c.398A= (p.Gln133=)
c.10A=
c.181+161A=
c.237+161A= (n.237+161A=)
11g.74493307G>ACA381976480LIPT2c.397C>T (p.Gln133Ter)
c.9C>T
c.181+160C>T
c.237+160C>T (n.237+160C>T)
 gnomAD v4
11g.74493307G>CCA224979280LIPT2c.397C>G (p.Gln133Glu)
c.9C>G
c.181+160C>G
c.237+160C>G (n.237+160C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493307G=CA1982908724LIPT2c.397C= (p.Gln133=)
c.9C=
c.181+160C=
c.237+160C= (n.237+160C=)
11g.74493307G>TCA381976481LIPT2c.397C>A (p.Gln133Lys)
c.9C>A
c.181+160C>A
c.237+160C>A (n.237+160C>A)
 gnomAD v4
11g.74493308C>ACA475888322LIPT2c.396G>T (p.Leu132=)
c.8G>T
c.181+159G>T
c.237+159G>T (n.237+159G>T)
 gnomAD v4
11g.74493308C>GCA475888321LIPT2c.396G>C (p.Leu132=)
c.8G>C
c.181+159G>C
c.237+159G>C (n.237+159G>C)
11g.74493308C>TCA475888320LIPT2c.396G>A (p.Leu132=)
c.8G>A
c.181+159G>A
c.237+159G>A (n.237+159G>A)
 gnomAD v4
11g.74493309A=CA1982908725LIPT2c.395T= (p.Leu132=)
c.7T=
c.181+158T=
c.237+158T= (n.237+158T=)
11g.74493309A>CCA381976482LIPT2c.395T>G (p.Leu132Arg)
c.7T>G
c.181+158T>G
c.237+158T>G (n.237+158T>G)
 dbSNP gnomAD v3 gnomAD v4
11g.74493309A>GCA381976483LIPT2c.395T>C (p.Leu132Pro)
c.7T>C
c.181+158T>C
c.237+158T>C (n.237+158T>C)
 gnomAD v4
11g.74493309A>TCA381976484LIPT2c.395T>A (p.Leu132Gln)
c.7T>A
c.181+158T>A
c.237+158T>A (n.237+158T>A)
 gnomAD v4
11g.74493310G>ACA475888323LIPT2c.394C>T (p.Leu132=)
c.6C>T
c.181+157C>T
c.237+157C>T (n.237+157C>T)
11g.74493310G>CCA381976485LIPT2c.394C>G (p.Leu132Val)
c.6C>G
c.181+157C>G
c.237+157C>G (n.237+157C>G)
 gnomAD v4
11g.74493310G>TCA381976486LIPT2c.394C>A (p.Leu132Met)
c.6C>A
c.181+157C>A
c.237+157C>A (n.237+157C>A)
 gnomAD v4
11g.74493311G>ACA475888324LIPT2c.393C>T (p.Gly131=)
c.5C>T
c.181+156C>T
c.237+156C>T (n.237+156C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493311G>CCA475888325LIPT2c.393C>G (p.Gly131=)
c.5C>G
c.181+156C>G
c.237+156C>G (n.237+156C>G)
11g.74493311G=CA1982908726LIPT2c.393C= (p.Gly131=)
c.5C=
c.181+156C=
c.237+156C= (n.237+156C=)
11g.74493311G>TCA224979281LIPT2c.393C>A (p.Gly131=)
c.5C>A
c.181+156C>A
c.237+156C>A (n.237+156C>A)
 dbSNP gnomAD v3 gnomAD v4
11g.74493311_74493312insACA2615095590LIPT2c.392_393insT (p.Leu132ProfsTer?)
c.4_5insT
c.181+155_181+156insT
c.392_393insT (p.Leu132ProfsTer26)
c.237+155_237+156insT (n.237+155_237+156insT)
 gnomAD v4
11g.74493312C>ACA381976487LIPT2c.392G>T (p.Gly131Val)
c.4G>T
c.181+155G>T
c.237+155G>T (n.237+155G>T)
 gnomAD v4
11g.74493312C=CA1982908727LIPT2c.392G= (p.Gly131=)
c.4G=
c.181+155G=
c.237+155G= (n.237+155G=)
11g.74493312C>GCA381976489LIPT2c.392G>C (p.Gly131Ala)
c.4G>C
c.181+155G>C
c.237+155G>C (n.237+155G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.74493312C>TCA381976488LIPT2c.392G>A (p.Gly131Asp)
c.4G>A
c.181+155G>A
c.237+155G>A (n.237+155G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.74493313C>ACA381976490LIPT2c.391G>T (p.Gly131Cys)
c.3G>T
c.181+154G>T
c.237+154G>T (n.237+154G>T)
 gnomAD v4
11g.74493313C=CA1982908728LIPT2c.391G= (p.Gly131=)
c.3G=
c.181+154G=
c.237+154G= (n.237+154G=)
11g.74493313C>GCA381976491LIPT2c.391G>C (p.Gly131Arg)
c.3G>C
c.181+154G>C
c.237+154G>C (n.237+154G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.74493313C>TCA381976492LIPT2c.391G>A (p.Gly131Ser)
c.3G>A
c.181+154G>A
c.237+154G>A (n.237+154G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.74493314C>ACA381976493LIPT2c.390G>T (p.Gln130His)
c.2G>T
c.181+153G>T
c.237+153G>T (n.237+153G>T)
 gnomAD v4
11g.74493314C=CA1982908729LIPT2c.390G= (p.Gln130=)
c.2G=
c.181+153G=
c.237+153G= (n.237+153G=)
11g.74493314C>GCA224979283LIPT2c.390G>C (p.Gln130His)
c.2G>C
c.181+153G>C
c.237+153G>C (n.237+153G>C)
 ClinVar dbSNP
11g.74493314C>TCA224979282LIPT2c.390G>A (p.Gln130=)
c.2G>A
c.181+153G>A
c.237+153G>A (n.237+153G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.74493315T>ACA381976494LIPT2c.389A>T (p.Gln130Leu)
c.1A>T
c.181+152A>T
c.237+152A>T (n.237+152A>T)
 gnomAD v4
11g.74493315T>CCA381976495LIPT2c.389A>G (p.Gln130Arg)
c.1A>G
c.181+152A>G
c.237+152A>G (n.237+152A>G)
 dbSNP gnomAD v4
11g.74493315T>GCA381976496LIPT2c.389A>C (p.Gln130Pro)
c.1A>C
c.181+152A>C
c.237+152A>C (n.237+152A>C)
 gnomAD v4
11g.74493315T=CA1982908730LIPT2c.389A= (p.Gln130=)
c.1A=
c.181+152A=
c.237+152A= (n.237+152A=)
11g.74493316G>ACA381976497LIPT2c.388C>T (p.Gln130Ter)
c.181+151C>T
c.237+151C>T (n.237+151C>T)
 gnomAD v4
11g.74493316G>CCA381976498LIPT2c.388C>G (p.Gln130Glu)
c.181+151C>G
c.237+151C>G (n.237+151C>G)
11g.74493316G>TCA381976499LIPT2c.388C>A (p.Gln130Lys)
c.181+151C>A
c.237+151C>A (n.237+151C>A)
11g.74493317delCA2615095591LIPT2c.388del (p.Gln130ArgfsTer18)
c.181+151del
c.237+151del (n.237+151del)
 gnomAD v4
11g.74493317G>ACA475888326LIPT2c.387C>T (p.Leu129=)
c.181+150C>T
c.237+150C>T (n.237+150C>T)
11g.74493317G>CCA475888327LIPT2c.387C>G (p.Leu129=)
c.181+150C>G
c.237+150C>G (n.237+150C>G)
 dbSNP gnomAD v4
11g.74493317G=CA1982908731LIPT2c.387C= (p.Leu129=)
c.181+150C=
c.237+150C= (n.237+150C=)
11g.74493317G>TCA475888328LIPT2c.387C>A (p.Leu129=)
c.181+150C>A
c.237+150C>A (n.237+150C>A)
 gnomAD v4
11g.74493318A>CCA381976502LIPT2c.386T>G (p.Leu129Arg)
c.181+149T>G
c.237+149T>G (n.237+149T>G)
11g.74493318A>GCA381976501LIPT2c.386T>C (p.Leu129Pro)
c.181+149T>C
c.237+149T>C (n.237+149T>C)
 gnomAD v4
11g.74493318A>TCA381976500LIPT2c.386T>A (p.Leu129His)
c.181+149T>A
c.237+149T>A (n.237+149T>A)
 gnomAD v4
11g.74493319G>ACA381976503LIPT2c.385C>T (p.Leu129Phe)
c.181+148C>T
c.237+148C>T (n.237+148C>T)
 gnomAD v4
11g.74493319G>CCA381976504LIPT2c.385C>G (p.Leu129Val)
c.181+148C>G
c.237+148C>G (n.237+148C>G)
11g.74493319G>TCA381976505LIPT2c.385C>A (p.Leu129Ile)
c.181+148C>A
c.237+148C>A (n.237+148C>A)
11g.74493319dupCA2615095592LIPT2c.385dup (p.Leu129ProfsTer?)
c.181+148dup
c.385dup (p.Leu129ProfsTer29)
c.237+148dup (n.237+148dup)
 gnomAD v4
11g.74493320C>ACA381976506LIPT2c.384G>T (p.Glu128Asp)
c.181+147G>T
c.237+147G>T (n.237+147G>T)
 dbSNP gnomAD v4
11g.74493320C=CA1982908732LIPT2c.384G= (p.Glu128=)
c.181+147G=
c.237+147G= (n.237+147G=)
11g.74493320C>GCA381976507LIPT2c.384G>C (p.Glu128Asp)
c.181+147G>C
c.237+147G>C (n.237+147G>C)
11g.74493320C>TCA475888329LIPT2c.384G>A (p.Glu128=)
c.181+147G>A
c.237+147G>A (n.237+147G>A)
 gnomAD v4
11g.74493321T>ACA224979284LIPT2c.383A>T (p.Glu128Val)
c.181+146A>T
c.237+146A>T (n.237+146A>T)
 dbSNP gnomAD v3 gnomAD v4
11g.74493321T>CCA381976508LIPT2c.383A>G (p.Glu128Gly)
c.181+146A>G
c.237+146A>G (n.237+146A>G)
 gnomAD v4
11g.74493321T>GCA381976509LIPT2c.383A>C (p.Glu128Ala)
c.181+146A>C
c.237+146A>C (n.237+146A>C)
11g.74493321T=CA1982908733LIPT2c.383A= (p.Glu128=)
c.181+146A=
c.237+146A= (n.237+146A=)
11g.74493322C>ACA381976510LIPT2c.382G>T (p.Glu128Ter)
c.181+145G>T
c.237+145G>T (n.237+145G>T)
 gnomAD v4
11g.74493322C=CA1982908735LIPT2c.382G= (p.Glu128=)
c.181+145G=
c.237+145G= (n.237+145G=)
11g.74493322C>GCA381976511LIPT2c.382G>C (p.Glu128Gln)
c.181+145G>C
c.237+145G>C (n.237+145G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493322C>TCA381976512LIPT2c.382G>A (p.Glu128Lys)
c.181+145G>A
c.237+145G>A (n.237+145G>A)
 gnomAD v4
11g.74493327_74493334dupCA1982908734LIPT2c.375_382dup (p.Glu128AlafsTer23)
c.181+138_181+145dup
c.237+138_237+145dup (n.237+138_237+145dup)
 dbSNP
11g.74493323G>ACA475888330LIPT2c.381C>T (p.Cys127=)
c.181+144C>T
c.237+144C>T (n.237+144C>T)
 dbSNP gnomAD v4
11g.74493323G>CCA381976513LIPT2c.381C>G (p.Cys127Trp)
c.181+144C>G
c.237+144C>G (n.237+144C>G)
 dbSNP
11g.74493323G=CA1982908736LIPT2c.381C= (p.Cys127=)
c.181+144C=
c.237+144C= (n.237+144C=)
11g.74493323G>TCA381976514LIPT2c.381C>A (p.Cys127Ter)
c.181+144C>A
c.237+144C>A (n.237+144C>A)
 dbSNP gnomAD v2 gnomAD v4
11g.74493324C>ACA381976516LIPT2c.380G>T (p.Cys127Phe)
c.181+143G>T
c.237+143G>T (n.237+143G>T)
 gnomAD v4
11g.74493324C>GCA381976517LIPT2c.380G>C (p.Cys127Ser)
c.181+143G>C
c.237+143G>C (n.237+143G>C)
11g.74493324C>TCA381976515LIPT2c.380G>A (p.Cys127Tyr)
c.181+143G>A
c.237+143G>A (n.237+143G>A)
 gnomAD v4
11g.74493325A>CCA381976520LIPT2c.379T>G (p.Cys127Gly)
c.181+142T>G
c.237+142T>G (n.237+142T>G)
11g.74493325A>GCA381976518LIPT2c.379T>C (p.Cys127Arg)
c.181+142T>C
c.237+142T>C (n.237+142T>C)
 gnomAD v4
11g.74493325A>TCA381976519LIPT2c.379T>A (p.Cys127Ser)
c.181+142T>A
c.237+142T>A (n.237+142T>A)
11g.74493326C>ACA475888331LIPT2c.378G>T (p.Leu126=)
c.181+141G>T
c.237+141G>T (n.237+141G>T)
 gnomAD v4
11g.74493326C=CA1982908737LIPT2c.378G= (p.Leu126=)
c.181+141G=
c.237+141G= (n.237+141G=)
11g.74493326C>GCA224979285LIPT2c.378G>C (p.Leu126=)
c.181+141G>C
c.237+141G>C (n.237+141G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493326C>TCA475888332LIPT2c.378G>A (p.Leu126=)
c.181+141G>A
c.237+141G>A (n.237+141G>A)
 dbSNP gnomAD v4
11g.74493327A=CA1982908738LIPT2c.377T= (p.Leu126=)
c.181+140T=
c.237+140T= (n.237+140T=)
11g.74493327A>CCA224979286LIPT2c.377T>G (p.Leu126Arg)
c.181+140T>G
c.237+140T>G (n.237+140T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493327A>GCA381976521LIPT2c.377T>C (p.Leu126Pro)
c.181+140T>C
c.237+140T>C (n.237+140T>C)
 gnomAD v4
11g.74493327A>TCA381976522LIPT2c.377T>A (p.Leu126Gln)
c.181+140T>A
c.237+140T>A (n.237+140T>A)
11g.74493328G>ACA475888333LIPT2c.376C>T (p.Leu126=)
c.181+139C>T
c.237+139C>T (n.237+139C>T)
 gnomAD v4
11g.74493328G>CCA381976523LIPT2c.376C>G (p.Leu126Val)
c.181+139C>G
c.237+139C>G (n.237+139C>G)
11g.74493328G=CA1982908739LIPT2c.376C= (p.Leu126=)
c.181+139C=
c.237+139C= (n.237+139C=)
11g.74493328G>TCA381976524LIPT2c.376C>A (p.Leu126Met)
c.181+139C>A
c.237+139C>A (n.237+139C>A)
 dbSNP gnomAD v4
11g.74493336_74493342dupCA600712376LIPT2c.370_376dup (p.Leu126ArgfsTer?)
c.181+133_181+139dup
c.237+133_237+139dup (n.237+133_237+139dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493329G>ACA475888336LIPT2c.375C>T (p.Arg125=)
c.181+138C>T
c.237+138C>T (n.237+138C>T)
 gnomAD v4
11g.74493329G>CCA475888334LIPT2c.375C>G (p.Arg125=)
c.181+138C>G
c.237+138C>G (n.237+138C>G)
 gnomAD v4
11g.74493329G>TCA475888335LIPT2c.375C>A (p.Arg125=)
c.181+138C>A
c.237+138C>A (n.237+138C>A)
 gnomAD v4
11g.74493330C>ACA224979287LIPT2c.374G>T (p.Arg125Leu)
c.181+137G>T
c.237+137G>T (n.237+137G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493330C=CA1982908740LIPT2c.374G= (p.Arg125=)
c.181+137G=
c.237+137G= (n.237+137G=)
11g.74493330C>GCA381976525LIPT2c.374G>C (p.Arg125Pro)
c.181+137G>C
c.237+137G>C (n.237+137G>C)
11g.74493330C>TCA381976526LIPT2c.374G>A (p.Arg125His)
c.181+137G>A
c.237+137G>A (n.237+137G>A)
 gnomAD v4
11g.74493331G>ACA6184919LIPT2c.373C>T (p.Arg125Cys)
c.181+136C>T
c.237+136C>T (n.237+136C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.74493331G>CCA381976527LIPT2c.373C>G (p.Arg125Gly)
c.181+136C>G
c.237+136C>G (n.237+136C>G)
11g.74493331G=CA1982908741LIPT2c.373C= (p.Arg125=)
c.181+136C=
c.237+136C= (n.237+136C=)
11g.74493331G>TCA381976528LIPT2c.373C>A (p.Arg125Ser)
c.181+136C>A
c.237+136C>A (n.237+136C>A)
 gnomAD v4
11g.74493332C>ACA475888337LIPT2c.372G>T (p.Val124=)
c.181+135G>T
c.237+135G>T (n.237+135G>T)
 dbSNP gnomAD v3 gnomAD v4
11g.74493332C=CA1982908742LIPT2c.372G= (p.Val124=)
c.181+135G=
c.237+135G= (n.237+135G=)
11g.74493332C>GCA475888338LIPT2c.372G>C (p.Val124=)
c.181+135G>C
c.237+135G>C (n.237+135G>C)
 gnomAD v4
11g.74493332C>TCA475888339LIPT2c.372G>A (p.Val124=)
c.181+135G>A
c.237+135G>A (n.237+135G>A)
 gnomAD v4
11g.74493333A=CA1982908743LIPT2c.371T= (p.Val124=)
c.181+134T=
c.237+134T= (n.237+134T=)
11g.74493333A>CCA381976530LIPT2c.371T>G (p.Val124Gly)
c.181+134T>G
c.237+134T>G (n.237+134T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493333A>GCA381976529LIPT2c.371T>C (p.Val124Ala)
c.181+134T>C
c.237+134T>C (n.237+134T>C)
 gnomAD v4
11g.74493333A>TCA6184920LIPT2c.371T>A (p.Val124Glu)
c.181+134T>A
c.237+134T>A (n.237+134T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.74493334C>ACA381976531LIPT2c.370G>T (p.Val124Leu)
c.181+133G>T
c.237+133G>T (n.237+133G>T)
 gnomAD v4
11g.74493334C=CA1982908744LIPT2c.370G= (p.Val124=)
c.181+133G=
c.237+133G= (n.237+133G=)
11g.74493334C>GCA381976532LIPT2c.370G>C (p.Val124Leu)
c.181+133G>C
c.237+133G>C (n.237+133G>C)
11g.74493334C>TCA381976533LIPT2c.370G>A (p.Val124Met)
c.181+133G>A
c.237+133G>A (n.237+133G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493335G>ACA475888340LIPT2c.369C>T (p.Ala123=)
c.181+132C>T
c.237+132C>T (n.237+132C>T)
 dbSNP gnomAD v4
11g.74493335G>CCA475888341LIPT2c.369C>G (p.Ala123=)
c.181+132C>G
c.237+132C>G (n.237+132C>G)
11g.74493335G=CA1982908745LIPT2c.369C= (p.Ala123=)
c.181+132C=
c.237+132C= (n.237+132C=)
11g.74493335G>TCA475888342LIPT2c.369C>A (p.Ala123=)
c.181+132C>A
c.237+132C>A (n.237+132C>A)
 gnomAD v4
11g.74493336G>ACA381976534LIPT2c.368C>T (p.Ala123Val)
c.181+131C>T
c.237+131C>T (n.237+131C>T)
 gnomAD v4
11g.74493336G>CCA381976535LIPT2c.368C>G (p.Ala123Gly)
c.181+131C>G
c.237+131C>G (n.237+131C>G)
 dbSNP gnomAD v3 gnomAD v4
11g.74493336G=CA1982908746LIPT2c.368C= (p.Ala123=)
c.181+131C=
c.237+131C= (n.237+131C=)
11g.74493336G>TCA381976536LIPT2c.368C>A (p.Ala123Asp)
c.181+131C>A
c.237+131C>A (n.237+131C>A)
 gnomAD v4
11g.74493337C>ACA381976537LIPT2c.367G>T (p.Ala123Ser)
c.181+130G>T
c.237+130G>T (n.237+130G>T)
11g.74493337C=CA1982908747LIPT2c.367G= (p.Ala123=)
c.181+130G=
c.237+130G= (n.237+130G=)
11g.74493337C>GCA224979288LIPT2c.367G>C (p.Ala123Pro)
c.181+130G>C
c.237+130G>C (n.237+130G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493337C>TCA381976538LIPT2c.367G>A (p.Ala123Thr)
c.181+130G>A
c.237+130G>A (n.237+130G>A)
 gnomAD v4
11g.74493338G>ACA224979289LIPT2c.366C>T (p.Cys122=)
c.181+129C>T
c.237+129C>T (n.237+129C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493338G>CCA381976539LIPT2c.366C>G (p.Cys122Trp)
c.181+129C>G
c.237+129C>G (n.237+129C>G)
11g.74493338G=CA1982908748LIPT2c.366C= (p.Cys122=)
c.181+129C=
c.237+129C= (n.237+129C=)
11g.74493338G>TCA381976540LIPT2c.366C>A (p.Cys122Ter)
c.181+129C>A
c.237+129C>A (n.237+129C>A)
 gnomAD v4
11g.74493339C>ACA381976541LIPT2c.365G>T (p.Cys122Phe)
c.181+128G>T
c.237+128G>T (n.237+128G>T)
 gnomAD v4
11g.74493339C>GCA381976542LIPT2c.365G>C (p.Cys122Ser)
c.181+128G>C
c.237+128G>C (n.237+128G>C)
11g.74493339C>TCA381976543LIPT2c.365G>A (p.Cys122Tyr)
c.181+128G>A
c.237+128G>A (n.237+128G>A)
 gnomAD v4
11g.74493340A>CCA381976545LIPT2c.364T>G (p.Cys122Gly)
c.181+127T>G
c.237+127T>G (n.237+127T>G)
11g.74493340A>GCA381976546LIPT2c.364T>C (p.Cys122Arg)
c.181+127T>C
c.237+127T>C (n.237+127T>C)
 gnomAD v4
11g.74493340A>TCA381976544LIPT2c.364T>A (p.Cys122Ser)
c.181+127T>A
c.237+127T>A (n.237+127T>A)
 gnomAD v4
11g.74493341C>ACA475888343LIPT2c.363G>T (p.Ala121=)
c.181+126G>T
c.237+126G>T (n.237+126G>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493341C=CA1982908749LIPT2c.363G= (p.Ala121=)
c.181+126G=
c.237+126G= (n.237+126G=)
11g.74493341C>GCA475888344LIPT2c.363G>C (p.Ala121=)
c.181+126G>C
c.237+126G>C (n.237+126G>C)
 gnomAD v4
11g.74493341C>TCA475888345LIPT2c.363G>A (p.Ala121=)
c.181+126G>A
c.237+126G>A (n.237+126G>A)
 gnomAD v4
11g.74493342G>ACA381976547LIPT2c.362C>T (p.Ala121Val)
c.181+125C>T
c.237+125C>T (n.237+125C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.74493342G>CCA381976548LIPT2c.362C>G (p.Ala121Gly)
c.181+125C>G
c.237+125C>G (n.237+125C>G)
 dbSNP
11g.74493342G=CA1982908750LIPT2c.362C= (p.Ala121=)
c.181+125C=
c.237+125C= (n.237+125C=)
11g.74493342G>TCA381976549LIPT2c.362C>A (p.Ala121Glu)
c.181+125C>A
c.237+125C>A (n.237+125C>A)
 dbSNP gnomAD v3 gnomAD v4
11g.74493343C>ACA381976550LIPT2c.361G>T (p.Ala121Ser)
c.181+124G>T
c.237+124G>T (n.237+124G>T)
 dbSNP gnomAD v3 gnomAD v4
11g.74493343C=CA1982908751LIPT2c.361G= (p.Ala121=)
c.181+124G=
c.237+124G= (n.237+124G=)
11g.74493343C>GCA381976551LIPT2c.361G>C (p.Ala121Pro)
c.181+124G>C
c.237+124G>C (n.237+124G>C)
11g.74493343C>TCA381976552LIPT2c.361G>A (p.Ala121Thr)
c.181+124G>A
c.237+124G>A (n.237+124G>A)
11g.74493344C>ACA381976554LIPT2c.360G>T (p.Glu120Asp)
c.181+123G>T
c.237+123G>T (n.237+123G>T)
11g.74493344C>GCA381976553LIPT2c.360G>C (p.Glu120Asp)
c.181+123G>C
c.237+123G>C (n.237+123G>C)
11g.74493344C>TCA475888346LIPT2c.360G>A (p.Glu120=)
c.181+123G>A
c.237+123G>A (n.237+123G>A)
 gnomAD v4
11g.74493345T>ACA381976555LIPT2c.359A>T (p.Glu120Val)
c.181+122A>T
c.237+122A>T (n.237+122A>T)
11g.74493345T>CCA381976556LIPT2c.359A>G (p.Glu120Gly)
c.181+122A>G
c.237+122A>G (n.237+122A>G)
 gnomAD v4
11g.74493345T>GCA381976557LIPT2c.359A>C (p.Glu120Ala)
c.181+122A>C
c.237+122A>C (n.237+122A>C)
11g.74493346C>ACA381976558LIPT2c.358G>T (p.Glu120Ter)
c.181+121G>T
c.237+121G>T (n.237+121G>T)
 gnomAD v4
11g.74493346C>GCA381976559LIPT2c.358G>C (p.Glu120Gln)
c.181+121G>C
c.237+121G>C (n.237+121G>C)
11g.74493346C>TCA381976560LIPT2c.358G>A (p.Glu120Lys)
c.181+121G>A
c.237+121G>A (n.237+121G>A)
11g.74493347delCA2615095593LIPT2c.358del (p.Glu120ArgfsTer28)
c.181+121del
c.237+121del (n.237+121del)
 gnomAD v4
11g.74493347C>ACA475888347LIPT2c.357G>T (p.Leu119=)
c.181+120G>T
c.237+120G>T (n.237+120G>T)
 gnomAD v4
11g.74493347C>GCA475888348LIPT2c.357G>C (p.Leu119=)
c.181+120G>C
c.237+120G>C (n.237+120G>C)
11g.74493347C>TCA475888349LIPT2c.357G>A (p.Leu119=)
c.181+120G>A
c.237+120G>A (n.237+120G>A)
 gnomAD v4
11g.74493348A=CA1982908752LIPT2c.356T= (p.Leu119=)
c.181+119T=
c.237+119T= (n.237+119T=)
11g.74493348A>CCA381976561LIPT2c.356T>G (p.Leu119Arg)
c.181+119T>G
c.237+119T>G (n.237+119T>G)
11g.74493348A>GCA381976563LIPT2c.356T>C (p.Leu119Pro)
c.181+119T>C
c.237+119T>C (n.237+119T>C)
 dbSNP gnomAD v4
11g.74493348A>TCA381976562LIPT2c.356T>A (p.Leu119Gln)
c.181+119T>A
c.237+119T>A (n.237+119T>A)
11g.74493349G>ACA475888350LIPT2c.355C>T (p.Leu119=)
c.181+118C>T
c.237+118C>T (n.237+118C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.74493349G>CCA381976564LIPT2c.355C>G (p.Leu119Val)
c.181+118C>G
c.237+118C>G (n.237+118C>G)
 gnomAD v4
11g.74493349G=CA1982908753LIPT2c.355C= (p.Leu119=)
c.181+118C=
c.237+118C= (n.237+118C=)
11g.74493349G>TCA381976565LIPT2c.355C>A (p.Leu119Met)
c.181+118C>A
c.237+118C>A (n.237+118C>A)
 gnomAD v4
11g.74493350C>ACA475888353LIPT2c.354G>T (p.Ser118=)
c.181+117G>T
c.237+117G>T (n.237+117G>T)
 gnomAD v4
11g.74493350C=CA1982908754LIPT2c.354G= (p.Ser118=)
c.181+117G=
c.237+117G= (n.237+117G=)
11g.74493350C>GCA475888352LIPT2c.354G>C (p.Ser118=)
c.181+117G>C
c.237+117G>C (n.237+117G>C)
 gnomAD v4
11g.74493350C>TCA475888351LIPT2c.354G>A (p.Ser118=)
c.181+117G>A
c.237+117G>A (n.237+117G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493351G>ACA381976566LIPT2c.353C>T (p.Ser118Leu)
c.181+116C>T
c.237+116C>T (n.237+116C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.74493351G>CCA381976567LIPT2c.353C>G (p.Ser118Trp)
c.181+116C>G
c.237+116C>G (n.237+116C>G)
11g.74493351G=CA1982908755LIPT2c.353C= (p.Ser118=)
c.181+116C=
c.237+116C= (n.237+116C=)
11g.74493351G>TCA381976568LIPT2c.353C>A (p.Ser118Ter)
c.181+116C>A
c.237+116C>A (n.237+116C>A)
 gnomAD v4
11g.74493352A>CCA381976569LIPT2c.352T>G (p.Ser118Ala)
c.181+115T>G
c.237+115T>G (n.237+115T>G)
11g.74493352A>GCA381976570LIPT2c.352T>C (p.Ser118Pro)
c.181+115T>C
c.237+115T>C (n.237+115T>C)
 gnomAD v4
11g.74493352A>TCA381976571LIPT2c.352T>A (p.Ser118Thr)
c.181+115T>A
c.237+115T>A (n.237+115T>A)
 gnomAD v4
11g.74493353C>ACA475888354LIPT2c.351G>T (p.Ala117=)
c.181+114G>T
c.237+114G>T (n.237+114G>T)
 gnomAD v4
11g.74493353C=CA1982908756LIPT2c.351G= (p.Ala117=)
c.181+114G=
c.237+114G= (n.237+114G=)
11g.74493353C>GCA475888355LIPT2c.351G>C (p.Ala117=)
c.181+114G>C
c.237+114G>C (n.237+114G>C)
 gnomAD v4
11g.74493353C>TCA475888356LIPT2c.351G>A (p.Ala117=)
c.181+114G>A
c.237+114G>A (n.237+114G>A)
 dbSNP gnomAD v3 gnomAD v4
11g.74493354G>ACA381976572LIPT2c.350C>T (p.Ala117Val)
c.181+113C>T
c.237+113C>T (n.237+113C>T)
 gnomAD v4
11g.74493354G>CCA381976573LIPT2c.350C>G (p.Ala117Gly)
c.181+113C>G
c.237+113C>G (n.237+113C>G)
11g.74493354G>TCA381976574LIPT2c.350C>A (p.Ala117Glu)
c.181+113C>A
c.237+113C>A (n.237+113C>A)
 gnomAD v4
11g.74493355C>ACA381976577LIPT2c.349G>T (p.Ala117Ser)
c.181+112G>T
c.237+112G>T (n.237+112G>T)
 gnomAD v4
11g.74493355C=CA1982908757LIPT2c.349G= (p.Ala117=)
c.181+112G=
c.237+112G= (n.237+112G=)
11g.74493355C>GCA381976575LIPT2c.349G>C (p.Ala117Pro)
c.181+112G>C
c.237+112G>C (n.237+112G>C)
11g.74493355C>TCA381976576LIPT2c.349G>A (p.Ala117Thr)
c.181+112G>A
c.237+112G>A (n.237+112G>A)
 dbSNP
11g.74493356T>ACA475888357LIPT2c.348A>T (p.Val116=)
c.181+111A>T
c.237+111A>T (n.237+111A>T)
11g.74493356T>CCA224979290LIPT2c.348A>G (p.Val116=)
c.181+111A>G
c.237+111A>G (n.237+111A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.74493356T>GCA475888358LIPT2c.348A>C (p.Val116=)
c.181+111A>C
c.237+111A>C (n.237+111A>C)
11g.74493356T=CA1982908758LIPT2c.348A= (p.Val116=)
c.181+111A=
c.237+111A= (n.237+111A=)
11g.74493357_74493364delCA2615095594LIPT2c.341_348del (p.Met114SerfsTer?)
c.181+104_181+111del
c.237+104_237+111del (n.237+104_237+111del)
 gnomAD v4
11g.74493357A>CCA381976578LIPT2c.347T>G (p.Val116Gly)
c.181+110T>G
c.237+110T>G (n.237+110T>G)
11g.74493357A>GCA381976579LIPT2c.347T>C (p.Val116Ala)
c.181+110T>C
c.237+110T>C (n.237+110T>C)
11g.74493357A>TCA381976580LIPT2c.347T>A (p.Val116Glu)
c.181+110T>A
c.237+110T>A (n.237+110T>A)
11g.74493358C>ACA381976581LIPT2c.346G>T (p.Val116Leu)
c.181+109G>T
c.237+109G>T (n.237+109G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493358C=CA1982908759LIPT2c.346G= (p.Val116=)
c.181+109G=
c.237+109G= (n.237+109G=)
11g.74493358C>GCA381976582LIPT2c.346G>C (p.Val116Leu)
c.181+109G>C
c.237+109G>C (n.237+109G>C)
11g.74493358C>TCA6184921LIPT2c.346G>A (p.Val116Ile)
c.181+109G>A
c.237+109G>A (n.237+109G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.74493359G>ACA475888359LIPT2c.345C>T (p.His115=)
c.181+108C>T
c.237+108C>T (n.237+108C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493359G>CCA381976583LIPT2c.345C>G (p.His115Gln)
c.181+108C>G
c.237+108C>G (n.237+108C>G)
11g.74493359G=CA1982908760LIPT2c.345C= (p.His115=)
c.181+108C=
c.237+108C= (n.237+108C=)
11g.74493359G>TCA381976584LIPT2c.345C>A (p.His115Gln)
c.181+108C>A
c.237+108C>A (n.237+108C>A)
11g.74493360T>ACA381976585LIPT2c.344A>T (p.His115Leu)
c.181+107A>T
c.237+107A>T (n.237+107A>T)
11g.74493360T>CCA381976586LIPT2c.344A>G (p.His115Arg)
c.181+107A>G
c.237+107A>G (n.237+107A>G)
 gnomAD v4
11g.74493360T>GCA381976587LIPT2c.344A>C (p.His115Pro)
c.181+107A>C
c.237+107A>C (n.237+107A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493360T=CA1982908761LIPT2c.344A= (p.His115=)
c.181+107A=
c.237+107A= (n.237+107A=)
11g.74493361G>ACA381976588LIPT2c.343C>T (p.His115Tyr)
c.181+106C>T
c.237+106C>T (n.237+106C>T)
 dbSNP gnomAD v2 gnomAD v4
11g.74493361G>CCA381976589LIPT2c.343C>G (p.His115Asp)
c.181+106C>G
c.237+106C>G (n.237+106C>G)
11g.74493361G=CA1982908762LIPT2c.343C= (p.His115=)
c.181+106C=
c.237+106C= (n.237+106C=)
11g.74493361G>TCA381976590LIPT2c.343C>A (p.His115Asn)
c.181+106C>A
c.237+106C>A (n.237+106C>A)
 gnomAD v4
11g.74493362C>ACA381976593LIPT2c.342G>T (p.Met114Ile)
c.181+105G>T
c.237+105G>T (n.237+105G>T)
 gnomAD v4
11g.74493362C=CA1982908763LIPT2c.342G= (p.Met114=)
c.181+105G=
c.237+105G= (n.237+105G=)
11g.74493362C>GCA381976592LIPT2c.342G>C (p.Met114Ile)
c.181+105G>C
c.237+105G>C (n.237+105G>C)
11g.74493362C>TCA381976591LIPT2c.342G>A (p.Met114Ile)
c.181+105G>A
c.237+105G>A (n.237+105G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.74493363A=CA1982908764LIPT2c.341T= (p.Met114=)
c.181+104T=
c.237+104T= (n.237+104T=)
11g.74493363A>CCA381976594LIPT2c.341T>G (p.Met114Arg)
c.181+104T>G
c.237+104T>G (n.237+104T>G)
11g.74493363A>GCA224979291LIPT2c.341T>C (p.Met114Thr)
c.181+104T>C
c.237+104T>C (n.237+104T>C)
 dbSNP
11g.74493363A>TCA381976595LIPT2c.341T>A (p.Met114Lys)
c.181+104T>A
c.237+104T>A (n.237+104T>A)
11g.74493364T>ACA381976596LIPT2c.340A>T (p.Met114Leu)
c.181+103A>T
c.237+103A>T (n.237+103A>T)
 dbSNP
11g.74493364T>CCA381976597LIPT2c.340A>G (p.Met114Val)
c.181+103A>G
c.237+103A>G (n.237+103A>G)
 gnomAD v4
11g.74493364T>GCA381976598LIPT2c.340A>C (p.Met114Leu)
c.181+103A>C
c.237+103A>C (n.237+103A>C)
11g.74493364T=CA1982908765LIPT2c.340A= (p.Met114=)
c.181+103A=
c.237+103A= (n.237+103A=)
11g.74493365G>ACA475888360LIPT2c.339C>T (p.Arg113=)
c.181+102C>T
c.237+102C>T (n.237+102C>T)
 gnomAD v4
11g.74493365G>CCA475888361LIPT2c.339C>G (p.Arg113=)
c.181+102C>G
c.237+102C>G (n.237+102C>G)
11g.74493365G>TCA475888362LIPT2c.339C>A (p.Arg113=)
c.181+102C>A
c.237+102C>A (n.237+102C>A)
 gnomAD v4
11g.74493366C>ACA381976599LIPT2c.338G>T (p.Arg113Leu)
c.181+101G>T
c.237+101G>T (n.237+101G>T)
 gnomAD v4
11g.74493366C=CA1982908766LIPT2c.338G= (p.Arg113=)
c.181+101G=
c.237+101G= (n.237+101G=)
11g.74493366C>GCA381976600LIPT2c.338G>C (p.Arg113Pro)
c.181+101G>C
c.237+101G>C (n.237+101G>C)
 dbSNP
11g.74493366C>TCA381976601LIPT2c.338G>A (p.Arg113His)
c.181+101G>A
c.237+101G>A (n.237+101G>A)
 gnomAD v4
11g.74493367G>ACA381976602LIPT2c.337C>T (p.Arg113Cys)
c.181+100C>T
c.237+100C>T (n.237+100C>T)
 dbSNP gnomAD v4
11g.74493367G>CCA381976603LIPT2c.337C>G (p.Arg113Gly)
c.181+100C>G
c.237+100C>G (n.237+100C>G)
 gnomAD v4
11g.74493367G=CA1982908767LIPT2c.337C= (p.Arg113=)
c.181+100C=
c.237+100C= (n.237+100C=)
11g.74493367G>TCA381976604LIPT2c.337C>A (p.Arg113Ser)
c.181+100C>A
c.237+100C>A (n.237+100C>A)
 dbSNP gnomAD v4
11g.74493369_74493372dupCA2615095595LIPT2c.334_337dup (p.Arg113LeufsTer?)
c.181+97_181+100dup
c.237+97_237+100dup (n.237+97_237+100dup)
 gnomAD v4
11g.74493368C>ACA381976605LIPT2c.336G>T (p.Leu112Phe)
c.181+99G>T
c.237+99G>T (n.237+99G>T)
 gnomAD v4
11g.74493368C>GCA381976606LIPT2c.336G>C (p.Leu112Phe)
c.181+99G>C
c.237+99G>C (n.237+99G>C)
11g.74493368C>TCA475888363LIPT2c.336G>A (p.Leu112=)
c.181+99G>A
c.237+99G>A (n.237+99G>A)
 gnomAD v4
11g.74493369A>CCA381976608LIPT2c.335T>G (p.Leu112Trp)
c.181+98T>G
c.237+98T>G (n.237+98T>G)
11g.74493369A>GCA381976609LIPT2c.335T>C (p.Leu112Ser)
c.181+98T>C
c.237+98T>C (n.237+98T>C)
 gnomAD v4
11g.74493369A>TCA381976607LIPT2c.335T>A (p.Leu112Ter)
c.181+98T>A
c.237+98T>A (n.237+98T>A)
11g.74493370A=CA1982908768LIPT2c.334T= (p.Leu112=)
c.181+97T=
c.237+97T= (n.237+97T=)
11g.74493370A>CCA381976610LIPT2c.334T>G (p.Leu112Val)
c.181+97T>G
c.237+97T>G (n.237+97T>G)
11g.74493370A>GCA224979292LIPT2c.334T>C (p.Leu112=)
c.181+97T>C
c.237+97T>C (n.237+97T>C)
 dbSNP gnomAD v3 gnomAD v4
11g.74493370A>TCA381976611LIPT2c.334T>A (p.Leu112Met)
c.181+97T>A
c.237+97T>A (n.237+97T>A)
11g.74493371G>ACA475888364LIPT2c.333C>T (p.Arg111=)
c.181+96C>T
c.237+96C>T (n.237+96C>T)
 dbSNP
11g.74493371G>CCA475888365LIPT2c.333C>G (p.Arg111=)
c.181+96C>G
c.237+96C>G (n.237+96C>G)
11g.74493371G=CA1982908769LIPT2c.333C= (p.Arg111=)
c.181+96C=
c.237+96C= (n.237+96C=)
11g.74493371G>TCA475888366LIPT2c.333C>A (p.Arg111=)
c.181+96C>A
c.237+96C>A (n.237+96C>A)
 gnomAD v4
11g.74493373_74493378delCA2615095596LIPT2c.328_333del (p.Leu110_Arg111del)
c.181+91_181+96del
c.237+91_237+96del (n.237+91_237+96del)
 gnomAD v4
11g.74493372C>ACA381976612LIPT2c.332G>T (p.Arg111Leu)
c.181+95G>T
c.237+95G>T (n.237+95G>T)
 gnomAD v4
11g.74493372C=CA1982908770LIPT2c.332G= (p.Arg111=)
c.181+95G=
c.237+95G= (n.237+95G=)
11g.74493372C>GCA224979293LIPT2c.332G>C (p.Arg111Pro)
c.181+95G>C
c.237+95G>C (n.237+95G>C)
 dbSNP gnomAD v3 gnomAD v4
11g.74493372C>TCA224979294LIPT2c.332G>A (p.Arg111His)
c.181+95G>A
c.237+95G>A (n.237+95G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493378_74493392dupCA600712377LIPT2c.318_332dup (p.Arg111_Leu112insArgLeuGlyLeuArg)
c.181+81_181+95dup
c.237+81_237+95dup (n.237+81_237+95dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493373G>ACA381976613LIPT2c.331C>T (p.Arg111Cys)
c.181+94C>T
c.237+94C>T (n.237+94C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.74493373G>CCA381976614LIPT2c.331C>G (p.Arg111Gly)
c.181+94C>G
c.237+94C>G (n.237+94C>G)
 dbSNP
11g.74493373G=CA1982908771LIPT2c.331C= (p.Arg111=)
c.181+94C=
c.237+94C= (n.237+94C=)
11g.74493373G>TCA381976615LIPT2c.331C>A (p.Arg111Ser)
c.181+94C>A
c.237+94C>A (n.237+94C>A)
11g.74493374C>ACA475888367LIPT2c.330G>T (p.Leu110=)
c.181+93G>T
c.237+93G>T (n.237+93G>T)
11g.74493374C=CA1982908772LIPT2c.330G= (p.Leu110=)
c.181+93G=
c.237+93G= (n.237+93G=)
11g.74493374C>GCA475888368LIPT2c.330G>C (p.Leu110=)
c.181+93G>C
c.237+93G>C (n.237+93G>C)
 dbSNP gnomAD v4
11g.74493374C>TCA475888369LIPT2c.330G>A (p.Leu110=)
c.181+93G>A
c.237+93G>A (n.237+93G>A)
 gnomAD v4
11g.74493375A>CCA381976616LIPT2c.329T>G (p.Leu110Arg)
c.181+92T>G
c.237+92T>G (n.237+92T>G)
11g.74493375A>GCA381976617LIPT2c.329T>C (p.Leu110Pro)
c.181+92T>C
c.237+92T>C (n.237+92T>C)
 gnomAD v4
11g.74493375A>TCA381976618LIPT2c.329T>A (p.Leu110Gln)
c.181+92T>A
c.237+92T>A (n.237+92T>A)
 gnomAD v4
11g.74493376G>ACA224979295LIPT2c.328C>T (p.Leu110=)
c.181+91C>T
c.237+91C>T (n.237+91C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.74493376G>CCA381976619LIPT2c.328C>G (p.Leu110Val)
c.181+91C>G
c.237+91C>G (n.237+91C>G)
11g.74493376G=CA1982908773LIPT2c.328C= (p.Leu110=)
c.181+91C=
c.237+91C= (n.237+91C=)
11g.74493376G>TCA381976620LIPT2c.328C>A (p.Leu110Met)
c.181+91C>A
c.237+91C>A (n.237+91C>A)
 gnomAD v4
11g.74493377G>ACA475888370LIPT2c.327C>T (p.Gly109=)
c.181+90C>T
c.237+90C>T (n.237+90C>T)
 gnomAD v4
11g.74493377G>CCA475888371LIPT2c.327C>G (p.Gly109=)
c.181+90C>G
c.237+90C>G (n.237+90C>G)
11g.74493377G>TCA475888372LIPT2c.327C>A (p.Gly109=)
c.181+90C>A
c.237+90C>A (n.237+90C>A)
 gnomAD v4
11g.74493378C>ACA381976621LIPT2c.326G>T (p.Gly109Val)
c.181+89G>T
c.237+89G>T (n.237+89G>T)
 gnomAD v4
11g.74493378C=CA1982908774LIPT2c.326G= (p.Gly109=)
c.181+89G=
c.237+89G= (n.237+89G=)
11g.74493378C>GCA224979296LIPT2c.326G>C (p.Gly109Ala)
c.181+89G>C
c.237+89G>C (n.237+89G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493378C>TCA224979297LIPT2c.326G>A (p.Gly109Asp)
c.181+89G>A
c.237+89G>A (n.237+89G>A)
 ClinVar dbSNP gnomAD v4
11g.74493379C>ACA381976622LIPT2c.325G>T (p.Gly109Cys)
c.181+88G>T
c.237+88G>T (n.237+88G>T)
 gnomAD v4
11g.74493379C=CA1982908775LIPT2c.325G= (p.Gly109=)
c.181+88G=
c.237+88G= (n.237+88G=)
11g.74493379C>GCA381976623LIPT2c.325G>C (p.Gly109Arg)
c.181+88G>C
c.237+88G>C (n.237+88G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493379C>TCA381976624LIPT2c.325G>A (p.Gly109Ser)
c.181+88G>A
c.237+88G>A (n.237+88G>A)
 dbSNP gnomAD v2 gnomAD v4
11g.74493383_74493397dupCA680150784LIPT2c.311_325dup (p.Leu108_Gly109insAspLeuArgArgLeu)
c.181+74_181+88dup
c.237+74_237+88dup (n.237+74_237+88dup)
 dbSNP gnomAD v4
11g.74493380G>ACA224979298LIPT2,LIPT2-AS1c.324C>T (p.Leu108=)
c.181+87C>T
c.237+87C>T (n.237+87C>T)
n.1G>A
 dbSNP gnomAD v3 gnomAD v4
11g.74493380G>CCA6184922LIPT2,LIPT2-AS1c.324C>G (p.Leu108=)
c.181+87C>G
c.237+87C>G (n.237+87C>G)
n.1G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.74493380G=CA1982908776LIPT2,LIPT2-AS1c.324C= (p.Leu108=)
c.181+87C=
c.237+87C= (n.237+87C=)
n.1G=
11g.74493380G>TCA475888373LIPT2,LIPT2-AS1c.324C>A (p.Leu108=)
c.181+87C>A
c.237+87C>A (n.237+87C>A)
n.1G>T
 dbSNP gnomAD v2 gnomAD v4
11g.74493381A=CA1982908777LIPT2,LIPT2-AS1c.323T= (p.Leu108=)
c.181+86T=
c.237+86T= (n.237+86T=)
n.2A=
11g.74493381A>CCA381976625LIPT2,LIPT2-AS1c.323T>G (p.Leu108Arg)
c.181+86T>G
c.237+86T>G (n.237+86T>G)
n.2A>C
 dbSNP gnomAD v2 gnomAD v4
11g.74493381A>GCA381976626LIPT2,LIPT2-AS1c.323T>C (p.Leu108Pro)
c.181+86T>C
c.237+86T>C (n.237+86T>C)
n.2A>G
 gnomAD v4
11g.74493381A>TCA381976627LIPT2,LIPT2-AS1c.323T>A (p.Leu108His)
c.181+86T>A
c.237+86T>A (n.237+86T>A)
n.2A>T
 gnomAD v4
11g.74493382G>ACA381976628LIPT2,LIPT2-AS1c.322C>T (p.Leu108Phe)
c.181+85C>T
c.237+85C>T (n.237+85C>T)
n.3G>A
11g.74493382G>CCA381976629LIPT2,LIPT2-AS1c.322C>G (p.Leu108Val)
c.181+85C>G
c.237+85C>G (n.237+85C>G)
n.3G>C
 dbSNP
11g.74493382G=CA1982908778LIPT2,LIPT2-AS1c.322C= (p.Leu108=)
c.181+85C=
c.237+85C= (n.237+85C=)
n.3G=
11g.74493382G>TCA381976630LIPT2,LIPT2-AS1c.322C>A (p.Leu108Ile)
c.181+85C>A
c.237+85C>A (n.237+85C>A)
n.3G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493383A=CA1982908779LIPT2,LIPT2-AS1c.321T= (p.Arg107=)
c.181+84T=
c.237+84T= (n.237+84T=)
n.4A=
11g.74493383A>CCA224979299LIPT2,LIPT2-AS1c.321T>G (p.Arg107=)
c.181+84T>G
c.237+84T>G (n.237+84T>G)
n.4A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493383A>GCA475888374LIPT2,LIPT2-AS1c.321T>C (p.Arg107=)
c.181+84T>C
c.237+84T>C (n.237+84T>C)
n.4A>G
 gnomAD v4
11g.74493383A>TCA475888375LIPT2,LIPT2-AS1c.321T>A (p.Arg107=)
c.181+84T>A
c.237+84T>A (n.237+84T>A)
n.4A>T
11g.74493384C>ACA381976631LIPT2,LIPT2-AS1c.320G>T (p.Arg107Leu)
c.181+83G>T
c.237+83G>T (n.237+83G>T)
n.5C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493384C=CA1982908780LIPT2,LIPT2-AS1c.320G= (p.Arg107=)
c.181+83G=
c.237+83G= (n.237+83G=)
n.5C=
11g.74493384C>GCA381976632LIPT2,LIPT2-AS1c.320G>C (p.Arg107Pro)
c.181+83G>C
c.237+83G>C (n.237+83G>C)
n.5C>G
11g.74493384C>TCA224979300LIPT2,LIPT2-AS1c.320G>A (p.Arg107His)
c.181+83G>A
c.237+83G>A (n.237+83G>A)
n.5C>T
 dbSNP gnomAD v3 gnomAD v4
11g.74493385G>ACA224979301LIPT2,LIPT2-AS1c.319C>T (p.Arg107Cys)
c.181+82C>T
c.-846G>A (n.-846G>A)
c.237+82C>T (n.237+82C>T)
n.6G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.74493385G>CCA381976633LIPT2,LIPT2-AS1c.319C>G (p.Arg107Gly)
c.181+82C>G
c.-846G>C (n.-846G>C)
c.237+82C>G (n.237+82C>G)
n.6G>C
11g.74493385G=CA1982908781LIPT2,LIPT2-AS1c.319C= (p.Arg107=)
c.181+82C=
c.-846G= (n.-846G=)
c.237+82C= (n.237+82C=)
n.6G=
11g.74493385G>TCA381976634LIPT2,LIPT2-AS1c.319C>A (p.Arg107Ser)
c.181+82C>A
c.-846G>T (n.-846G>T)
c.237+82C>A (n.237+82C>A)
n.6G>T
 gnomAD v4
11g.74493386C>ACA475888376LIPT2,LIPT2-AS1c.318G>T (p.Arg106=)
c.181+81G>T
c.-845C>A (n.-845C>A)
c.237+81G>T (n.237+81G>T)
n.7C>A
 gnomAD v4
11g.74493386C=CA1982908782LIPT2,LIPT2-AS1c.318G= (p.Arg106=)
c.181+81G=
c.-845C= (n.-845C=)
c.237+81G= (n.237+81G=)
n.7C=
11g.74493386C>GCA475888377LIPT2,LIPT2-AS1c.318G>C (p.Arg106=)
c.181+81G>C
c.-845C>G (n.-845C>G)
c.237+81G>C (n.237+81G>C)
n.7C>G
 gnomAD v4
11g.74493386C>TCA475888378LIPT2,LIPT2-AS1c.318G>A (p.Arg106=)
c.181+81G>A
c.-845C>T (n.-845C>T)
c.237+81G>A (n.237+81G>A)
n.7C>T
 dbSNP gnomAD v3 gnomAD v4
11g.74493387C>ACA381976635LIPT2,LIPT2-AS1c.317G>T (p.Arg106Leu)
c.181+80G>T
c.-844C>A (n.-844C>A)
c.237+80G>T (n.237+80G>T)
n.8C>A
 gnomAD v4
11g.74493387C>GCA381976636LIPT2,LIPT2-AS1c.317G>C (p.Arg106Pro)
c.181+80G>C
c.-844C>G (n.-844C>G)
c.237+80G>C (n.237+80G>C)
n.8C>G
11g.74493387C>TCA381976637LIPT2,LIPT2-AS1c.317G>A (p.Arg106Gln)
c.181+80G>A
c.-844C>T (n.-844C>T)
c.237+80G>A (n.237+80G>A)
n.8C>T
 gnomAD v4
11g.74493388G>ACA381976638LIPT2,LIPT2-AS1c.316C>T (p.Arg106Trp)
c.181+79C>T
c.-843G>A (n.-843G>A)
c.237+79C>T (n.237+79C>T)
n.9G>A
 gnomAD v4
11g.74493388G>CCA381976639LIPT2,LIPT2-AS1c.316C>G (p.Arg106Gly)
c.181+79C>G
c.-843G>C (n.-843G>C)
c.237+79C>G (n.237+79C>G)
n.9G>C
11g.74493388G>TCA475888379LIPT2,LIPT2-AS1c.316C>A (p.Arg106=)
c.181+79C>A
c.-843G>T (n.-843G>T)
c.237+79C>A (n.237+79C>A)
n.9G>T
 gnomAD v4
11g.74493389C>ACA475888380LIPT2,LIPT2-AS1c.315G>T (p.Leu105=)
c.181+78G>T
c.-842C>A (n.-842C>A)
c.237+78G>T (n.237+78G>T)
n.10C>A
 gnomAD v4
11g.74493389C=CA1982908783LIPT2,LIPT2-AS1c.315G= (p.Leu105=)
c.181+78G=
c.-842C= (n.-842C=)
c.237+78G= (n.237+78G=)
n.10C=
11g.74493389C>GCA475888382LIPT2,LIPT2-AS1c.315G>C (p.Leu105=)
c.181+78G>C
c.-842C>G (n.-842C>G)
c.237+78G>C (n.237+78G>C)
n.10C>G
 dbSNP gnomAD v3 gnomAD v4
11g.74493389C>TCA475888381LIPT2,LIPT2-AS1c.315G>A (p.Leu105=)
c.181+78G>A
c.-842C>T (n.-842C>T)
c.237+78G>A (n.237+78G>A)
n.10C>T
11g.74493390A=CA1982908784LIPT2,LIPT2-AS1c.314T= (p.Leu105=)
c.181+77T=
c.-841A= (n.-841A=)
c.237+77T= (n.237+77T=)
n.11A=
11g.74493390A>CCA381976640LIPT2,LIPT2-AS1c.314T>G (p.Leu105Arg)
c.181+77T>G
c.-841A>C (n.-841A>C)
c.237+77T>G (n.237+77T>G)
n.11A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.74493390A>GCA381976642LIPT2,LIPT2-AS1c.314T>C (p.Leu105Pro)
c.181+77T>C
c.-841A>G (n.-841A>G)
c.237+77T>C (n.237+77T>C)
n.11A>G
 gnomAD v4
11g.74493390A>TCA381976641LIPT2,LIPT2-AS1c.314T>A (p.Leu105Gln)
c.181+77T>A
c.-841A>T (n.-841A>T)
c.237+77T>A (n.237+77T>A)
n.11A>T
11g.74493390_74493393delinsAGGTCA1982908785LIPT2,LIPT2-AS1c.311_314delinsACCT (p.Asp104=)
c.181+74_181+77delinsACCT
c.-841_-838delinsAGGT (n.-841_-838delinsAGGT)
c.237+74_237+77delinsACCT (n.237+74_237+77delinsACCT)
n.11_14delinsAGGT

Number of alleles fetched