Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.74493279T>A | CA381976424 | LIPT2 | c.425A>T (p.Tyr142Phe) c.37A>T c.181+188A>T c.237+188A>T (n.237+188A>T) | |
11 | g.74493279T>C | CA381976425 | LIPT2 | c.425A>G (p.Tyr142Cys) c.37A>G c.181+188A>G c.237+188A>G (n.237+188A>G) | gnomAD v4 |
11 | g.74493279T>G | CA381976426 | LIPT2 | c.425A>C (p.Tyr142Ser) c.37A>C c.181+188A>C c.237+188A>C (n.237+188A>C) | gnomAD v4 |
11 | g.74493280A= | CA1982908703 | LIPT2 | c.424T= (p.Tyr142=) c.36T= c.181+187T= c.237+187T= (n.237+187T=) | |
11 | g.74493280A>C | CA381976429 | LIPT2 | c.424T>G (p.Tyr142Asp) c.36T>G c.181+187T>G c.237+187T>G (n.237+187T>G) | |
11 | g.74493280A>G | CA381976428 | LIPT2 | c.424T>C (p.Tyr142His) c.36T>C c.181+187T>C c.237+187T>C (n.237+187T>C) | dbSNP gnomAD v4 |
11 | g.74493280A>T | CA381976427 | LIPT2 | c.424T>A (p.Tyr142Asn) c.36T>A c.181+187T>A c.237+187T>A (n.237+187T>A) | |
11 | g.74493281G>A | CA224979274 | LIPT2 | c.423C>T (p.Pro141=) c.35C>T c.181+186C>T c.237+186C>T (n.237+186C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493281G>C | CA475888299 | LIPT2 | c.423C>G (p.Pro141=) c.35C>G c.181+186C>G c.237+186C>G (n.237+186C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493281G= | CA1982908704 | LIPT2 | c.423C= (p.Pro141=) c.35C= c.181+186C= c.237+186C= (n.237+186C=) | |
11 | g.74493281G>T | CA475888300 | LIPT2 | c.423C>A (p.Pro141=) c.35C>A c.181+186C>A c.237+186C>A (n.237+186C>A) | gnomAD v4 |
11 | g.74493282G>A | CA381976432 | LIPT2 | c.422C>T (p.Pro141Leu) c.34C>T c.181+185C>T c.237+185C>T (n.237+185C>T) | gnomAD v4 |
11 | g.74493282G>C | CA381976430 | LIPT2 | c.422C>G (p.Pro141Arg) c.34C>G c.181+185C>G c.237+185C>G (n.237+185C>G) | |
11 | g.74493282G>T | CA381976431 | LIPT2 | c.422C>A (p.Pro141His) c.34C>A c.181+185C>A c.237+185C>A (n.237+185C>A) | |
11 | g.74493283G>A | CA381976433 | LIPT2 | c.421C>T (p.Pro141Ser) c.33C>T c.181+184C>T c.237+184C>T (n.237+184C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493283G>C | CA381976434 | LIPT2 | c.421C>G (p.Pro141Ala) c.33C>G c.181+184C>G c.237+184C>G (n.237+184C>G) | |
11 | g.74493283G= | CA1982908705 | LIPT2 | c.421C= (p.Pro141=) c.33C= c.181+184C= c.237+184C= (n.237+184C=) | |
11 | g.74493283G>T | CA381976435 | LIPT2 | c.421C>A (p.Pro141Thr) c.33C>A c.181+184C>A c.237+184C>A (n.237+184C>A) | gnomAD v4 |
11 | g.74493284C>A | CA475888303 | LIPT2 | c.420G>T (p.Pro140=) c.32G>T c.181+183G>T c.237+183G>T (n.237+183G>T) | dbSNP gnomAD v4 |
11 | g.74493284C= | CA1982908707 | LIPT2 | c.420G= (p.Pro140=) c.32G= c.181+183G= c.237+183G= (n.237+183G=) | |
11 | g.74493284C>G | CA475888302 | LIPT2 | c.420G>C (p.Pro140=) c.32G>C c.181+183G>C c.237+183G>C (n.237+183G>C) | gnomAD v4 |
11 | g.74493284C>T | CA475888301 | LIPT2 | c.420G>A (p.Pro140=) c.32G>A c.181+183G>A c.237+183G>A (n.237+183G>A) | dbSNP gnomAD v4 |
11 | g.74493284dup | CA2615095588 | LIPT2 | c.420dup (p.Pro141AlafsTer?) c.32dup c.181+183dup c.420dup (p.Pro141AlafsTer17) c.237+183dup (n.237+183dup) | gnomAD v4 |
11 | g.74493284_74493285delinsCG | CA1982908706 | LIPT2 | c.419_420delinsCG (p.Pro140=) c.31_32delinsCG c.181+182_181+183delinsCG c.237+182_237+183delinsCG (n.237+182_237+183delinsCG) | |
11 | g.74493285G>A | CA381976438 | LIPT2 | c.419C>T (p.Pro140Leu) c.31C>T c.181+182C>T c.237+182C>T (n.237+182C>T) | gnomAD v4 |
11 | g.74493285G>C | CA381976437 | LIPT2 | c.419C>G (p.Pro140Arg) c.31C>G c.181+182C>G c.237+182C>G (n.237+182C>G) | gnomAD v4 |
11 | g.74493285G>T | CA381976436 | LIPT2 | c.419C>A (p.Pro140Gln) c.31C>A c.181+182C>A c.237+182C>A (n.237+182C>A) | gnomAD v4 COSMIC |
11 | g.74493289dup | CA2792711285 | LIPT2 | c.419dup (p.Pro141AlafsTer?) c.31dup c.181+182dup c.419dup (p.Pro141AlafsTer17) c.237+182dup (n.237+182dup) | |
11 | g.74493289del | CA600712364 | LIPT2 | c.419del (p.Pro140ArgfsTer8) c.31del c.181+182del c.237+182del (n.237+182del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493286G>A | CA224979275 | LIPT2 | c.418C>T (p.Pro140Ser) c.30C>T c.181+181C>T c.237+181C>T (n.237+181C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493286G>C | CA381976439 | LIPT2 | c.418C>G (p.Pro140Ala) c.30C>G c.181+181C>G c.237+181C>G (n.237+181C>G) | dbSNP gnomAD v4 |
11 | g.74493286G= | CA1982908708 | LIPT2 | c.418C= (p.Pro140=) c.30C= c.181+181C= c.237+181C= (n.237+181C=) | |
11 | g.74493286G>T | CA381976440 | LIPT2 | c.418C>A (p.Pro140Thr) c.30C>A c.181+181C>A c.237+181C>A (n.237+181C>A) | gnomAD v4 |
11 | g.74493287G>A | CA475888304 | LIPT2 | c.417C>T (p.Pro139=) c.29C>T c.181+180C>T c.237+180C>T (n.237+180C>T) | dbSNP gnomAD v4 |
11 | g.74493287G>C | CA475888305 | LIPT2 | c.417C>G (p.Pro139=) c.29C>G c.181+180C>G c.237+180C>G (n.237+180C>G) | |
11 | g.74493287G= | CA1982908709 | LIPT2 | c.417C= (p.Pro139=) c.29C= c.181+180C= c.237+180C= (n.237+180C=) | |
11 | g.74493287G>T | CA224979276 | LIPT2 | c.417C>A (p.Pro139=) c.29C>A c.181+180C>A c.237+180C>A (n.237+180C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493291_74493301dup | CA1982908710 | LIPT2 | c.407_417dup (p.Pro140AlafsTer12) c.19_29dup c.181+170_181+180dup c.237+170_237+180dup (n.237+170_237+180dup) | dbSNP |
11 | g.74493288G>A | CA381976441 | LIPT2 | c.416C>T (p.Pro139Leu) c.28C>T c.181+179C>T c.237+179C>T (n.237+179C>T) | gnomAD v4 |
11 | g.74493288G>C | CA381976442 | LIPT2 | c.416C>G (p.Pro139Arg) c.28C>G c.181+179C>G c.237+179C>G (n.237+179C>G) | |
11 | g.74493288G>T | CA381976443 | LIPT2 | c.416C>A (p.Pro139His) c.28C>A c.181+179C>A c.237+179C>A (n.237+179C>A) | gnomAD v4 |
11 | g.74493289G>A | CA224979277 | LIPT2 | c.415C>T (p.Pro139Ser) c.27C>T c.181+178C>T c.237+178C>T (n.237+178C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493289G>C | CA381976445 | LIPT2 | c.415C>G (p.Pro139Ala) c.27C>G c.181+178C>G c.237+178C>G (n.237+178C>G) | gnomAD v4 |
11 | g.74493289G= | CA1982908711 | LIPT2 | c.415C= (p.Pro139=) c.27C= c.181+178C= c.237+178C= (n.237+178C=) | |
11 | g.74493289G>T | CA381976444 | LIPT2 | c.415C>A (p.Pro139Thr) c.27C>A c.181+178C>A c.237+178C>A (n.237+178C>A) | gnomAD v4 |
11 | g.74493290C>A | CA475888306 | LIPT2 | c.414G>T (p.Arg138=) c.26G>T c.181+177G>T c.237+177G>T (n.237+177G>T) | gnomAD v4 |
11 | g.74493290C= | CA1982908712 | LIPT2 | c.414G= (p.Arg138=) c.26G= c.181+177G= c.237+177G= (n.237+177G=) | |
11 | g.74493290C>G | CA475888307 | LIPT2 | c.414G>C (p.Arg138=) c.26G>C c.181+177G>C c.237+177G>C (n.237+177G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493290C>T | CA6184918 | LIPT2 | c.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 |
11 | g.74493291C>A | CA381976446 | LIPT2 | c.413G>T (p.Arg138Leu) c.25G>T c.181+176G>T c.237+176G>T (n.237+176G>T) | dbSNP gnomAD v4 |
11 | g.74493291C= | CA1982908713 | LIPT2 | c.413G= (p.Arg138=) c.25G= c.181+176G= c.237+176G= (n.237+176G=) | |
11 | g.74493291C>G | CA381976447 | LIPT2 | c.413G>C (p.Arg138Pro) c.25G>C c.181+176G>C c.237+176G>C (n.237+176G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493291C>T | CA381976448 | LIPT2 | c.413G>A (p.Arg138Gln) c.25G>A c.181+176G>A c.237+176G>A (n.237+176G>A) | gnomAD v4 |
11 | g.74493292G>A | CA381976449 | LIPT2 | c.412C>T (p.Arg138Trp) c.24C>T c.181+175C>T c.237+175C>T (n.237+175C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493292G>C | CA381976450 | LIPT2 | c.412C>G (p.Arg138Gly) c.24C>G c.181+175C>G c.237+175C>G (n.237+175C>G) | |
11 | g.74493292G= | CA1982908714 | LIPT2 | c.412C= (p.Arg138=) c.24C= c.181+175C= c.237+175C= (n.237+175C=) | |
11 | g.74493292G>T | CA475888308 | LIPT2 | c.412C>A (p.Arg138=) c.24C>A c.181+175C>A c.237+175C>A (n.237+175C>A) | |
11 | g.74493293C>A | CA475888309 | LIPT2 | c.411G>T (p.Ala137=) c.23G>T c.181+174G>T c.237+174G>T (n.237+174G>T) | gnomAD v4 |
11 | g.74493293C>G | CA475888310 | LIPT2 | c.411G>C (p.Ala137=) c.23G>C c.181+174G>C c.237+174G>C (n.237+174G>C) | |
11 | g.74493293C>T | CA475888311 | LIPT2 | c.411G>A (p.Ala137=) c.23G>A c.181+174G>A c.237+174G>A (n.237+174G>A) | gnomAD v4 |
11 | g.74493294G>A | CA381976451 | LIPT2 | c.410C>T (p.Ala137Val) c.22C>T c.181+173C>T c.237+173C>T (n.237+173C>T) | gnomAD v4 |
11 | g.74493294G>C | CA381976452 | LIPT2 | c.410C>G (p.Ala137Gly) c.22C>G c.181+173C>G c.237+173C>G (n.237+173C>G) | |
11 | g.74493294G>T | CA381976453 | LIPT2 | c.410C>A (p.Ala137Glu) c.22C>A c.181+173C>A c.237+173C>A (n.237+173C>A) | gnomAD v4 |
11 | g.74493295C>A | CA381976454 | LIPT2 | c.409G>T (p.Ala137Ser) c.21G>T c.181+172G>T c.237+172G>T (n.237+172G>T) | gnomAD v4 |
11 | g.74493295C= | CA1982908715 | LIPT2 | c.409G= (p.Ala137=) c.21G= c.181+172G= c.237+172G= (n.237+172G=) | |
11 | g.74493295C>G | CA381976455 | LIPT2 | c.409G>C (p.Ala137Pro) c.21G>C c.181+172G>C c.237+172G>C (n.237+172G>C) | |
11 | g.74493295C>T | CA224979278 | LIPT2 | c.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 |
11 | g.74493296G>A | CA475888312 | LIPT2 | c.408C>T (p.Arg136=) c.20C>T c.181+171C>T c.237+171C>T (n.237+171C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493296G>C | CA475888313 | LIPT2 | c.408C>G (p.Arg136=) c.20C>G c.181+171C>G c.237+171C>G (n.237+171C>G) | gnomAD v4 |
11 | g.74493296G= | CA1982908716 | LIPT2 | c.408C= (p.Arg136=) c.20C= c.181+171C= c.237+171C= (n.237+171C=) | |
11 | g.74493296G>T | CA475888314 | LIPT2 | c.408C>A (p.Arg136=) c.20C>A c.181+171C>A c.237+171C>A (n.237+171C>A) | gnomAD v4 |
11 | g.74493297C>A | CA381976457 | LIPT2 | c.407G>T (p.Arg136Leu) c.19G>T c.181+170G>T c.237+170G>T (n.237+170G>T) | gnomAD v4 |
11 | g.74493297C>G | CA381976458 | LIPT2 | c.407G>C (p.Arg136Pro) c.19G>C c.181+170G>C c.237+170G>C (n.237+170G>C) | |
11 | g.74493297C>T | CA381976456 | LIPT2 | c.407G>A (p.Arg136His) c.19G>A c.181+170G>A c.237+170G>A (n.237+170G>A) | gnomAD v4 |
11 | g.74493298G>A | CA381976459 | LIPT2 | c.406C>T (p.Arg136Cys) c.18C>T c.181+169C>T c.237+169C>T (n.237+169C>T) | gnomAD v4 |
11 | g.74493298G>C | CA381976460 | LIPT2 | c.406C>G (p.Arg136Gly) c.18C>G c.181+169C>G c.237+169C>G (n.237+169C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493298G= | CA1982908717 | LIPT2 | c.406C= (p.Arg136=) c.18C= c.181+169C= c.237+169C= (n.237+169C=) | |
11 | g.74493298G>T | CA381976461 | LIPT2 | c.406C>A (p.Arg136Ser) c.18C>A c.181+169C>A c.237+169C>A (n.237+169C>A) | |
11 | g.74493299G>A | CA475888315 | LIPT2 | c.405C>T (p.Ala135=) c.17C>T c.181+168C>T c.237+168C>T (n.237+168C>T) | dbSNP |
11 | g.74493299G>C | CA475888316 | LIPT2 | c.405C>G (p.Ala135=) c.17C>G c.181+168C>G c.237+168C>G (n.237+168C>G) | |
11 | g.74493299G= | CA1982908718 | LIPT2 | c.405C= (p.Ala135=) c.17C= c.181+168C= c.237+168C= (n.237+168C=) | |
11 | g.74493299G>T | CA475888317 | LIPT2 | c.405C>A (p.Ala135=) c.17C>A c.181+168C>A c.237+168C>A (n.237+168C>A) | gnomAD v4 |
11 | g.74493300G>A | CA381976462 | LIPT2 | c.404C>T (p.Ala135Val) c.16C>T c.181+167C>T c.237+167C>T (n.237+167C>T) | dbSNP gnomAD v4 |
11 | g.74493300G>C | CA381976463 | LIPT2 | c.404C>G (p.Ala135Gly) c.16C>G c.181+167C>G c.237+167C>G (n.237+167C>G) | |
11 | g.74493300G>T | CA381976464 | LIPT2 | c.404C>A (p.Ala135Asp) c.16C>A c.181+167C>A c.237+167C>A (n.237+167C>A) | gnomAD v4 |
11 | g.74493301C>A | CA381976467 | LIPT2 | c.403G>T (p.Ala135Ser) c.15G>T c.181+166G>T c.237+166G>T (n.237+166G>T) | gnomAD v4 |
11 | g.74493301C= | CA1982908719 | LIPT2 | c.403G= (p.Ala135=) c.15G= c.181+166G= c.237+166G= (n.237+166G=) | |
11 | g.74493301C>G | CA381976465 | LIPT2 | c.403G>C (p.Ala135Pro) c.15G>C c.181+166G>C c.237+166G>C (n.237+166G>C) | |
11 | g.74493301C>T | CA381976466 | LIPT2 | c.403G>A (p.Ala135Thr) c.15G>A c.181+166G>A c.237+166G>A (n.237+166G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493302G>A | CA475888318 | LIPT2 | c.402C>T (p.Asp134=) c.14C>T c.181+165C>T c.237+165C>T (n.237+165C>T) | gnomAD v4 |
11 | g.74493302G>C | CA381976468 | LIPT2 | c.402C>G (p.Asp134Glu) c.14C>G c.181+165C>G c.237+165C>G (n.237+165C>G) | |
11 | g.74493302G= | CA1982908720 | LIPT2 | c.402C= (p.Asp134=) c.14C= c.181+165C= c.237+165C= (n.237+165C=) | |
11 | g.74493302G>T | CA381976469 | LIPT2 | c.402C>A (p.Asp134Glu) c.14C>A c.181+165C>A c.237+165C>A (n.237+165C>A) | dbSNP |
11 | g.74493303T>A | CA381976470 | LIPT2 | c.401A>T (p.Asp134Val) c.13A>T c.181+164A>T c.237+164A>T (n.237+164A>T) | gnomAD v4 |
11 | g.74493303T>C | CA381976471 | LIPT2 | c.401A>G (p.Asp134Gly) c.13A>G c.181+164A>G c.237+164A>G (n.237+164A>G) | gnomAD v4 |
11 | g.74493303T>G | CA224979279 | LIPT2 | c.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 |
11 | g.74493303T= | CA1982908721 | LIPT2 | c.401A= (p.Asp134=) c.13A= c.181+164A= c.237+164A= (n.237+164A=) | |
11 | g.74493304C>A | CA381976474 | LIPT2 | c.400G>T (p.Asp134Tyr) c.12G>T c.181+163G>T c.237+163G>T (n.237+163G>T) | gnomAD v4 |
11 | g.74493304C>G | CA381976472 | LIPT2 | c.400G>C (p.Asp134His) c.12G>C c.181+163G>C c.237+163G>C (n.237+163G>C) | |
11 | g.74493304C>T | CA381976473 | LIPT2 | c.400G>A (p.Asp134Asn) c.12G>A c.181+163G>A c.237+163G>A (n.237+163G>A) | |
11 | g.74493305del | CA2615095589 | LIPT2 | c.400del (p.Asp134ThrfsTer14) c.12del c.181+163del c.237+163del (n.237+163del) | gnomAD v4 |
11 | g.74493305C>A | CA381976475 | LIPT2 | c.399G>T (p.Gln133His) c.11G>T c.181+162G>T c.237+162G>T (n.237+162G>T) | gnomAD v4 |
11 | g.74493305C= | CA1982908722 | LIPT2 | c.399G= (p.Gln133=) c.11G= c.181+162G= c.237+162G= (n.237+162G=) | |
11 | g.74493305C>G | CA381976476 | LIPT2 | c.399G>C (p.Gln133His) c.11G>C c.181+162G>C c.237+162G>C (n.237+162G>C) | |
11 | g.74493305C>T | CA475888319 | LIPT2 | c.399G>A (p.Gln133=) c.11G>A c.181+162G>A c.237+162G>A (n.237+162G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493306T>A | CA381976477 | LIPT2 | c.398A>T (p.Gln133Leu) c.10A>T c.181+161A>T c.237+161A>T (n.237+161A>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493306T>C | CA381976478 | LIPT2 | c.398A>G (p.Gln133Arg) c.10A>G c.181+161A>G c.237+161A>G (n.237+161A>G) | dbSNP gnomAD v4 |
11 | g.74493306T>G | CA381976479 | LIPT2 | c.398A>C (p.Gln133Pro) c.10A>C c.181+161A>C c.237+161A>C (n.237+161A>C) | |
11 | g.74493306T= | CA1982908723 | LIPT2 | c.398A= (p.Gln133=) c.10A= c.181+161A= c.237+161A= (n.237+161A=) | |
11 | g.74493307G>A | CA381976480 | LIPT2 | c.397C>T (p.Gln133Ter) c.9C>T c.181+160C>T c.237+160C>T (n.237+160C>T) | gnomAD v4 |
11 | g.74493307G>C | CA224979280 | LIPT2 | c.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 |
11 | g.74493307G= | CA1982908724 | LIPT2 | c.397C= (p.Gln133=) c.9C= c.181+160C= c.237+160C= (n.237+160C=) | |
11 | g.74493307G>T | CA381976481 | LIPT2 | c.397C>A (p.Gln133Lys) c.9C>A c.181+160C>A c.237+160C>A (n.237+160C>A) | gnomAD v4 |
11 | g.74493308C>A | CA475888322 | LIPT2 | c.396G>T (p.Leu132=) c.8G>T c.181+159G>T c.237+159G>T (n.237+159G>T) | gnomAD v4 |
11 | g.74493308C>G | CA475888321 | LIPT2 | c.396G>C (p.Leu132=) c.8G>C c.181+159G>C c.237+159G>C (n.237+159G>C) | |
11 | g.74493308C>T | CA475888320 | LIPT2 | c.396G>A (p.Leu132=) c.8G>A c.181+159G>A c.237+159G>A (n.237+159G>A) | gnomAD v4 |
11 | g.74493309A= | CA1982908725 | LIPT2 | c.395T= (p.Leu132=) c.7T= c.181+158T= c.237+158T= (n.237+158T=) | |
11 | g.74493309A>C | CA381976482 | LIPT2 | c.395T>G (p.Leu132Arg) c.7T>G c.181+158T>G c.237+158T>G (n.237+158T>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493309A>G | CA381976483 | LIPT2 | c.395T>C (p.Leu132Pro) c.7T>C c.181+158T>C c.237+158T>C (n.237+158T>C) | gnomAD v4 |
11 | g.74493309A>T | CA381976484 | LIPT2 | c.395T>A (p.Leu132Gln) c.7T>A c.181+158T>A c.237+158T>A (n.237+158T>A) | gnomAD v4 |
11 | g.74493310G>A | CA475888323 | LIPT2 | c.394C>T (p.Leu132=) c.6C>T c.181+157C>T c.237+157C>T (n.237+157C>T) | |
11 | g.74493310G>C | CA381976485 | LIPT2 | c.394C>G (p.Leu132Val) c.6C>G c.181+157C>G c.237+157C>G (n.237+157C>G) | gnomAD v4 |
11 | g.74493310G>T | CA381976486 | LIPT2 | c.394C>A (p.Leu132Met) c.6C>A c.181+157C>A c.237+157C>A (n.237+157C>A) | gnomAD v4 |
11 | g.74493311G>A | CA475888324 | LIPT2 | c.393C>T (p.Gly131=) c.5C>T c.181+156C>T c.237+156C>T (n.237+156C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493311G>C | CA475888325 | LIPT2 | c.393C>G (p.Gly131=) c.5C>G c.181+156C>G c.237+156C>G (n.237+156C>G) | |
11 | g.74493311G= | CA1982908726 | LIPT2 | c.393C= (p.Gly131=) c.5C= c.181+156C= c.237+156C= (n.237+156C=) | |
11 | g.74493311G>T | CA224979281 | LIPT2 | c.393C>A (p.Gly131=) c.5C>A c.181+156C>A c.237+156C>A (n.237+156C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493311_74493312insA | CA2615095590 | LIPT2 | c.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 |
11 | g.74493312C>A | CA381976487 | LIPT2 | c.392G>T (p.Gly131Val) c.4G>T c.181+155G>T c.237+155G>T (n.237+155G>T) | gnomAD v4 |
11 | g.74493312C= | CA1982908727 | LIPT2 | c.392G= (p.Gly131=) c.4G= c.181+155G= c.237+155G= (n.237+155G=) | |
11 | g.74493312C>G | CA381976489 | LIPT2 | c.392G>C (p.Gly131Ala) c.4G>C c.181+155G>C c.237+155G>C (n.237+155G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493312C>T | CA381976488 | LIPT2 | c.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 |
11 | g.74493313C>A | CA381976490 | LIPT2 | c.391G>T (p.Gly131Cys) c.3G>T c.181+154G>T c.237+154G>T (n.237+154G>T) | gnomAD v4 |
11 | g.74493313C= | CA1982908728 | LIPT2 | c.391G= (p.Gly131=) c.3G= c.181+154G= c.237+154G= (n.237+154G=) | |
11 | g.74493313C>G | CA381976491 | LIPT2 | c.391G>C (p.Gly131Arg) c.3G>C c.181+154G>C c.237+154G>C (n.237+154G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493313C>T | CA381976492 | LIPT2 | c.391G>A (p.Gly131Ser) c.3G>A c.181+154G>A c.237+154G>A (n.237+154G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493314C>A | CA381976493 | LIPT2 | c.390G>T (p.Gln130His) c.2G>T c.181+153G>T c.237+153G>T (n.237+153G>T) | gnomAD v4 |
11 | g.74493314C= | CA1982908729 | LIPT2 | c.390G= (p.Gln130=) c.2G= c.181+153G= c.237+153G= (n.237+153G=) | |
11 | g.74493314C>G | CA224979283 | LIPT2 | c.390G>C (p.Gln130His) c.2G>C c.181+153G>C c.237+153G>C (n.237+153G>C) | ClinVar dbSNP |
11 | g.74493314C>T | CA224979282 | LIPT2 | c.390G>A (p.Gln130=) c.2G>A c.181+153G>A c.237+153G>A (n.237+153G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493315T>A | CA381976494 | LIPT2 | c.389A>T (p.Gln130Leu) c.1A>T c.181+152A>T c.237+152A>T (n.237+152A>T) | gnomAD v4 |
11 | g.74493315T>C | CA381976495 | LIPT2 | c.389A>G (p.Gln130Arg) c.1A>G c.181+152A>G c.237+152A>G (n.237+152A>G) | dbSNP gnomAD v4 |
11 | g.74493315T>G | CA381976496 | LIPT2 | c.389A>C (p.Gln130Pro) c.1A>C c.181+152A>C c.237+152A>C (n.237+152A>C) | gnomAD v4 |
11 | g.74493315T= | CA1982908730 | LIPT2 | c.389A= (p.Gln130=) c.1A= c.181+152A= c.237+152A= (n.237+152A=) | |
11 | g.74493316G>A | CA381976497 | LIPT2 | c.388C>T (p.Gln130Ter) c.181+151C>T c.237+151C>T (n.237+151C>T) | gnomAD v4 |
11 | g.74493316G>C | CA381976498 | LIPT2 | c.388C>G (p.Gln130Glu) c.181+151C>G c.237+151C>G (n.237+151C>G) | |
11 | g.74493316G>T | CA381976499 | LIPT2 | c.388C>A (p.Gln130Lys) c.181+151C>A c.237+151C>A (n.237+151C>A) | |
11 | g.74493317del | CA2615095591 | LIPT2 | c.388del (p.Gln130ArgfsTer18) c.181+151del c.237+151del (n.237+151del) | gnomAD v4 |
11 | g.74493317G>A | CA475888326 | LIPT2 | c.387C>T (p.Leu129=) c.181+150C>T c.237+150C>T (n.237+150C>T) | |
11 | g.74493317G>C | CA475888327 | LIPT2 | c.387C>G (p.Leu129=) c.181+150C>G c.237+150C>G (n.237+150C>G) | dbSNP gnomAD v4 |
11 | g.74493317G= | CA1982908731 | LIPT2 | c.387C= (p.Leu129=) c.181+150C= c.237+150C= (n.237+150C=) | |
11 | g.74493317G>T | CA475888328 | LIPT2 | c.387C>A (p.Leu129=) c.181+150C>A c.237+150C>A (n.237+150C>A) | gnomAD v4 |
11 | g.74493318A>C | CA381976502 | LIPT2 | c.386T>G (p.Leu129Arg) c.181+149T>G c.237+149T>G (n.237+149T>G) | |
11 | g.74493318A>G | CA381976501 | LIPT2 | c.386T>C (p.Leu129Pro) c.181+149T>C c.237+149T>C (n.237+149T>C) | gnomAD v4 |
11 | g.74493318A>T | CA381976500 | LIPT2 | c.386T>A (p.Leu129His) c.181+149T>A c.237+149T>A (n.237+149T>A) | gnomAD v4 |
11 | g.74493319G>A | CA381976503 | LIPT2 | c.385C>T (p.Leu129Phe) c.181+148C>T c.237+148C>T (n.237+148C>T) | gnomAD v4 |
11 | g.74493319G>C | CA381976504 | LIPT2 | c.385C>G (p.Leu129Val) c.181+148C>G c.237+148C>G (n.237+148C>G) | |
11 | g.74493319G>T | CA381976505 | LIPT2 | c.385C>A (p.Leu129Ile) c.181+148C>A c.237+148C>A (n.237+148C>A) | |
11 | g.74493319dup | CA2615095592 | LIPT2 | c.385dup (p.Leu129ProfsTer?) c.181+148dup c.385dup (p.Leu129ProfsTer29) c.237+148dup (n.237+148dup) | gnomAD v4 |
11 | g.74493320C>A | CA381976506 | LIPT2 | c.384G>T (p.Glu128Asp) c.181+147G>T c.237+147G>T (n.237+147G>T) | dbSNP gnomAD v4 |
11 | g.74493320C= | CA1982908732 | LIPT2 | c.384G= (p.Glu128=) c.181+147G= c.237+147G= (n.237+147G=) | |
11 | g.74493320C>G | CA381976507 | LIPT2 | c.384G>C (p.Glu128Asp) c.181+147G>C c.237+147G>C (n.237+147G>C) | |
11 | g.74493320C>T | CA475888329 | LIPT2 | c.384G>A (p.Glu128=) c.181+147G>A c.237+147G>A (n.237+147G>A) | gnomAD v4 |
11 | g.74493321T>A | CA224979284 | LIPT2 | c.383A>T (p.Glu128Val) c.181+146A>T c.237+146A>T (n.237+146A>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493321T>C | CA381976508 | LIPT2 | c.383A>G (p.Glu128Gly) c.181+146A>G c.237+146A>G (n.237+146A>G) | gnomAD v4 |
11 | g.74493321T>G | CA381976509 | LIPT2 | c.383A>C (p.Glu128Ala) c.181+146A>C c.237+146A>C (n.237+146A>C) | |
11 | g.74493321T= | CA1982908733 | LIPT2 | c.383A= (p.Glu128=) c.181+146A= c.237+146A= (n.237+146A=) | |
11 | g.74493322C>A | CA381976510 | LIPT2 | c.382G>T (p.Glu128Ter) c.181+145G>T c.237+145G>T (n.237+145G>T) | gnomAD v4 |
11 | g.74493322C= | CA1982908735 | LIPT2 | c.382G= (p.Glu128=) c.181+145G= c.237+145G= (n.237+145G=) | |
11 | g.74493322C>G | CA381976511 | LIPT2 | c.382G>C (p.Glu128Gln) c.181+145G>C c.237+145G>C (n.237+145G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493322C>T | CA381976512 | LIPT2 | c.382G>A (p.Glu128Lys) c.181+145G>A c.237+145G>A (n.237+145G>A) | gnomAD v4 |
11 | g.74493327_74493334dup | CA1982908734 | LIPT2 | c.375_382dup (p.Glu128AlafsTer23) c.181+138_181+145dup c.237+138_237+145dup (n.237+138_237+145dup) | dbSNP |
11 | g.74493323G>A | CA475888330 | LIPT2 | c.381C>T (p.Cys127=) c.181+144C>T c.237+144C>T (n.237+144C>T) | dbSNP gnomAD v4 |
11 | g.74493323G>C | CA381976513 | LIPT2 | c.381C>G (p.Cys127Trp) c.181+144C>G c.237+144C>G (n.237+144C>G) | dbSNP |
11 | g.74493323G= | CA1982908736 | LIPT2 | c.381C= (p.Cys127=) c.181+144C= c.237+144C= (n.237+144C=) | |
11 | g.74493323G>T | CA381976514 | LIPT2 | c.381C>A (p.Cys127Ter) c.181+144C>A c.237+144C>A (n.237+144C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493324C>A | CA381976516 | LIPT2 | c.380G>T (p.Cys127Phe) c.181+143G>T c.237+143G>T (n.237+143G>T) | gnomAD v4 |
11 | g.74493324C>G | CA381976517 | LIPT2 | c.380G>C (p.Cys127Ser) c.181+143G>C c.237+143G>C (n.237+143G>C) | |
11 | g.74493324C>T | CA381976515 | LIPT2 | c.380G>A (p.Cys127Tyr) c.181+143G>A c.237+143G>A (n.237+143G>A) | gnomAD v4 |
11 | g.74493325A>C | CA381976520 | LIPT2 | c.379T>G (p.Cys127Gly) c.181+142T>G c.237+142T>G (n.237+142T>G) | |
11 | g.74493325A>G | CA381976518 | LIPT2 | c.379T>C (p.Cys127Arg) c.181+142T>C c.237+142T>C (n.237+142T>C) | gnomAD v4 |
11 | g.74493325A>T | CA381976519 | LIPT2 | c.379T>A (p.Cys127Ser) c.181+142T>A c.237+142T>A (n.237+142T>A) | |
11 | g.74493326C>A | CA475888331 | LIPT2 | c.378G>T (p.Leu126=) c.181+141G>T c.237+141G>T (n.237+141G>T) | gnomAD v4 |
11 | g.74493326C= | CA1982908737 | LIPT2 | c.378G= (p.Leu126=) c.181+141G= c.237+141G= (n.237+141G=) | |
11 | g.74493326C>G | CA224979285 | LIPT2 | c.378G>C (p.Leu126=) c.181+141G>C c.237+141G>C (n.237+141G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493326C>T | CA475888332 | LIPT2 | c.378G>A (p.Leu126=) c.181+141G>A c.237+141G>A (n.237+141G>A) | dbSNP gnomAD v4 |
11 | g.74493327A= | CA1982908738 | LIPT2 | c.377T= (p.Leu126=) c.181+140T= c.237+140T= (n.237+140T=) | |
11 | g.74493327A>C | CA224979286 | LIPT2 | c.377T>G (p.Leu126Arg) c.181+140T>G c.237+140T>G (n.237+140T>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493327A>G | CA381976521 | LIPT2 | c.377T>C (p.Leu126Pro) c.181+140T>C c.237+140T>C (n.237+140T>C) | gnomAD v4 |
11 | g.74493327A>T | CA381976522 | LIPT2 | c.377T>A (p.Leu126Gln) c.181+140T>A c.237+140T>A (n.237+140T>A) | |
11 | g.74493328G>A | CA475888333 | LIPT2 | c.376C>T (p.Leu126=) c.181+139C>T c.237+139C>T (n.237+139C>T) | gnomAD v4 |
11 | g.74493328G>C | CA381976523 | LIPT2 | c.376C>G (p.Leu126Val) c.181+139C>G c.237+139C>G (n.237+139C>G) | |
11 | g.74493328G= | CA1982908739 | LIPT2 | c.376C= (p.Leu126=) c.181+139C= c.237+139C= (n.237+139C=) | |
11 | g.74493328G>T | CA381976524 | LIPT2 | c.376C>A (p.Leu126Met) c.181+139C>A c.237+139C>A (n.237+139C>A) | dbSNP gnomAD v4 |
11 | g.74493336_74493342dup | CA600712376 | LIPT2 | c.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 |
11 | g.74493329G>A | CA475888336 | LIPT2 | c.375C>T (p.Arg125=) c.181+138C>T c.237+138C>T (n.237+138C>T) | gnomAD v4 |
11 | g.74493329G>C | CA475888334 | LIPT2 | c.375C>G (p.Arg125=) c.181+138C>G c.237+138C>G (n.237+138C>G) | gnomAD v4 |
11 | g.74493329G>T | CA475888335 | LIPT2 | c.375C>A (p.Arg125=) c.181+138C>A c.237+138C>A (n.237+138C>A) | gnomAD v4 |
11 | g.74493330C>A | CA224979287 | LIPT2 | c.374G>T (p.Arg125Leu) c.181+137G>T c.237+137G>T (n.237+137G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493330C= | CA1982908740 | LIPT2 | c.374G= (p.Arg125=) c.181+137G= c.237+137G= (n.237+137G=) | |
11 | g.74493330C>G | CA381976525 | LIPT2 | c.374G>C (p.Arg125Pro) c.181+137G>C c.237+137G>C (n.237+137G>C) | |
11 | g.74493330C>T | CA381976526 | LIPT2 | c.374G>A (p.Arg125His) c.181+137G>A c.237+137G>A (n.237+137G>A) | gnomAD v4 |
11 | g.74493331G>A | CA6184919 | LIPT2 | c.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 |
11 | g.74493331G>C | CA381976527 | LIPT2 | c.373C>G (p.Arg125Gly) c.181+136C>G c.237+136C>G (n.237+136C>G) | |
11 | g.74493331G= | CA1982908741 | LIPT2 | c.373C= (p.Arg125=) c.181+136C= c.237+136C= (n.237+136C=) | |
11 | g.74493331G>T | CA381976528 | LIPT2 | c.373C>A (p.Arg125Ser) c.181+136C>A c.237+136C>A (n.237+136C>A) | gnomAD v4 |
11 | g.74493332C>A | CA475888337 | LIPT2 | c.372G>T (p.Val124=) c.181+135G>T c.237+135G>T (n.237+135G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493332C= | CA1982908742 | LIPT2 | c.372G= (p.Val124=) c.181+135G= c.237+135G= (n.237+135G=) | |
11 | g.74493332C>G | CA475888338 | LIPT2 | c.372G>C (p.Val124=) c.181+135G>C c.237+135G>C (n.237+135G>C) | gnomAD v4 |
11 | g.74493332C>T | CA475888339 | LIPT2 | c.372G>A (p.Val124=) c.181+135G>A c.237+135G>A (n.237+135G>A) | gnomAD v4 |
11 | g.74493333A= | CA1982908743 | LIPT2 | c.371T= (p.Val124=) c.181+134T= c.237+134T= (n.237+134T=) | |
11 | g.74493333A>C | CA381976530 | LIPT2 | c.371T>G (p.Val124Gly) c.181+134T>G c.237+134T>G (n.237+134T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493333A>G | CA381976529 | LIPT2 | c.371T>C (p.Val124Ala) c.181+134T>C c.237+134T>C (n.237+134T>C) | gnomAD v4 |
11 | g.74493333A>T | CA6184920 | LIPT2 | c.371T>A (p.Val124Glu) c.181+134T>A c.237+134T>A (n.237+134T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.74493334C>A | CA381976531 | LIPT2 | c.370G>T (p.Val124Leu) c.181+133G>T c.237+133G>T (n.237+133G>T) | gnomAD v4 |
11 | g.74493334C= | CA1982908744 | LIPT2 | c.370G= (p.Val124=) c.181+133G= c.237+133G= (n.237+133G=) | |
11 | g.74493334C>G | CA381976532 | LIPT2 | c.370G>C (p.Val124Leu) c.181+133G>C c.237+133G>C (n.237+133G>C) | |
11 | g.74493334C>T | CA381976533 | LIPT2 | c.370G>A (p.Val124Met) c.181+133G>A c.237+133G>A (n.237+133G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493335G>A | CA475888340 | LIPT2 | c.369C>T (p.Ala123=) c.181+132C>T c.237+132C>T (n.237+132C>T) | dbSNP gnomAD v4 |
11 | g.74493335G>C | CA475888341 | LIPT2 | c.369C>G (p.Ala123=) c.181+132C>G c.237+132C>G (n.237+132C>G) | |
11 | g.74493335G= | CA1982908745 | LIPT2 | c.369C= (p.Ala123=) c.181+132C= c.237+132C= (n.237+132C=) | |
11 | g.74493335G>T | CA475888342 | LIPT2 | c.369C>A (p.Ala123=) c.181+132C>A c.237+132C>A (n.237+132C>A) | gnomAD v4 |
11 | g.74493336G>A | CA381976534 | LIPT2 | c.368C>T (p.Ala123Val) c.181+131C>T c.237+131C>T (n.237+131C>T) | gnomAD v4 |
11 | g.74493336G>C | CA381976535 | LIPT2 | c.368C>G (p.Ala123Gly) c.181+131C>G c.237+131C>G (n.237+131C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493336G= | CA1982908746 | LIPT2 | c.368C= (p.Ala123=) c.181+131C= c.237+131C= (n.237+131C=) | |
11 | g.74493336G>T | CA381976536 | LIPT2 | c.368C>A (p.Ala123Asp) c.181+131C>A c.237+131C>A (n.237+131C>A) | gnomAD v4 |
11 | g.74493337C>A | CA381976537 | LIPT2 | c.367G>T (p.Ala123Ser) c.181+130G>T c.237+130G>T (n.237+130G>T) | |
11 | g.74493337C= | CA1982908747 | LIPT2 | c.367G= (p.Ala123=) c.181+130G= c.237+130G= (n.237+130G=) | |
11 | g.74493337C>G | CA224979288 | LIPT2 | c.367G>C (p.Ala123Pro) c.181+130G>C c.237+130G>C (n.237+130G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493337C>T | CA381976538 | LIPT2 | c.367G>A (p.Ala123Thr) c.181+130G>A c.237+130G>A (n.237+130G>A) | gnomAD v4 |
11 | g.74493338G>A | CA224979289 | LIPT2 | c.366C>T (p.Cys122=) c.181+129C>T c.237+129C>T (n.237+129C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493338G>C | CA381976539 | LIPT2 | c.366C>G (p.Cys122Trp) c.181+129C>G c.237+129C>G (n.237+129C>G) | |
11 | g.74493338G= | CA1982908748 | LIPT2 | c.366C= (p.Cys122=) c.181+129C= c.237+129C= (n.237+129C=) | |
11 | g.74493338G>T | CA381976540 | LIPT2 | c.366C>A (p.Cys122Ter) c.181+129C>A c.237+129C>A (n.237+129C>A) | gnomAD v4 |
11 | g.74493339C>A | CA381976541 | LIPT2 | c.365G>T (p.Cys122Phe) c.181+128G>T c.237+128G>T (n.237+128G>T) | gnomAD v4 |
11 | g.74493339C>G | CA381976542 | LIPT2 | c.365G>C (p.Cys122Ser) c.181+128G>C c.237+128G>C (n.237+128G>C) | |
11 | g.74493339C>T | CA381976543 | LIPT2 | c.365G>A (p.Cys122Tyr) c.181+128G>A c.237+128G>A (n.237+128G>A) | gnomAD v4 |
11 | g.74493340A>C | CA381976545 | LIPT2 | c.364T>G (p.Cys122Gly) c.181+127T>G c.237+127T>G (n.237+127T>G) | |
11 | g.74493340A>G | CA381976546 | LIPT2 | c.364T>C (p.Cys122Arg) c.181+127T>C c.237+127T>C (n.237+127T>C) | gnomAD v4 |
11 | g.74493340A>T | CA381976544 | LIPT2 | c.364T>A (p.Cys122Ser) c.181+127T>A c.237+127T>A (n.237+127T>A) | gnomAD v4 |
11 | g.74493341C>A | CA475888343 | LIPT2 | c.363G>T (p.Ala121=) c.181+126G>T c.237+126G>T (n.237+126G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493341C= | CA1982908749 | LIPT2 | c.363G= (p.Ala121=) c.181+126G= c.237+126G= (n.237+126G=) | |
11 | g.74493341C>G | CA475888344 | LIPT2 | c.363G>C (p.Ala121=) c.181+126G>C c.237+126G>C (n.237+126G>C) | gnomAD v4 |
11 | g.74493341C>T | CA475888345 | LIPT2 | c.363G>A (p.Ala121=) c.181+126G>A c.237+126G>A (n.237+126G>A) | gnomAD v4 |
11 | g.74493342G>A | CA381976547 | LIPT2 | c.362C>T (p.Ala121Val) c.181+125C>T c.237+125C>T (n.237+125C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493342G>C | CA381976548 | LIPT2 | c.362C>G (p.Ala121Gly) c.181+125C>G c.237+125C>G (n.237+125C>G) | dbSNP |
11 | g.74493342G= | CA1982908750 | LIPT2 | c.362C= (p.Ala121=) c.181+125C= c.237+125C= (n.237+125C=) | |
11 | g.74493342G>T | CA381976549 | LIPT2 | c.362C>A (p.Ala121Glu) c.181+125C>A c.237+125C>A (n.237+125C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493343C>A | CA381976550 | LIPT2 | c.361G>T (p.Ala121Ser) c.181+124G>T c.237+124G>T (n.237+124G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493343C= | CA1982908751 | LIPT2 | c.361G= (p.Ala121=) c.181+124G= c.237+124G= (n.237+124G=) | |
11 | g.74493343C>G | CA381976551 | LIPT2 | c.361G>C (p.Ala121Pro) c.181+124G>C c.237+124G>C (n.237+124G>C) | |
11 | g.74493343C>T | CA381976552 | LIPT2 | c.361G>A (p.Ala121Thr) c.181+124G>A c.237+124G>A (n.237+124G>A) | |
11 | g.74493344C>A | CA381976554 | LIPT2 | c.360G>T (p.Glu120Asp) c.181+123G>T c.237+123G>T (n.237+123G>T) | |
11 | g.74493344C>G | CA381976553 | LIPT2 | c.360G>C (p.Glu120Asp) c.181+123G>C c.237+123G>C (n.237+123G>C) | |
11 | g.74493344C>T | CA475888346 | LIPT2 | c.360G>A (p.Glu120=) c.181+123G>A c.237+123G>A (n.237+123G>A) | gnomAD v4 |
11 | g.74493345T>A | CA381976555 | LIPT2 | c.359A>T (p.Glu120Val) c.181+122A>T c.237+122A>T (n.237+122A>T) | |
11 | g.74493345T>C | CA381976556 | LIPT2 | c.359A>G (p.Glu120Gly) c.181+122A>G c.237+122A>G (n.237+122A>G) | gnomAD v4 |
11 | g.74493345T>G | CA381976557 | LIPT2 | c.359A>C (p.Glu120Ala) c.181+122A>C c.237+122A>C (n.237+122A>C) | |
11 | g.74493346C>A | CA381976558 | LIPT2 | c.358G>T (p.Glu120Ter) c.181+121G>T c.237+121G>T (n.237+121G>T) | gnomAD v4 |
11 | g.74493346C>G | CA381976559 | LIPT2 | c.358G>C (p.Glu120Gln) c.181+121G>C c.237+121G>C (n.237+121G>C) | |
11 | g.74493346C>T | CA381976560 | LIPT2 | c.358G>A (p.Glu120Lys) c.181+121G>A c.237+121G>A (n.237+121G>A) | |
11 | g.74493347del | CA2615095593 | LIPT2 | c.358del (p.Glu120ArgfsTer28) c.181+121del c.237+121del (n.237+121del) | gnomAD v4 |
11 | g.74493347C>A | CA475888347 | LIPT2 | c.357G>T (p.Leu119=) c.181+120G>T c.237+120G>T (n.237+120G>T) | gnomAD v4 |
11 | g.74493347C>G | CA475888348 | LIPT2 | c.357G>C (p.Leu119=) c.181+120G>C c.237+120G>C (n.237+120G>C) | |
11 | g.74493347C>T | CA475888349 | LIPT2 | c.357G>A (p.Leu119=) c.181+120G>A c.237+120G>A (n.237+120G>A) | gnomAD v4 |
11 | g.74493348A= | CA1982908752 | LIPT2 | c.356T= (p.Leu119=) c.181+119T= c.237+119T= (n.237+119T=) | |
11 | g.74493348A>C | CA381976561 | LIPT2 | c.356T>G (p.Leu119Arg) c.181+119T>G c.237+119T>G (n.237+119T>G) | |
11 | g.74493348A>G | CA381976563 | LIPT2 | c.356T>C (p.Leu119Pro) c.181+119T>C c.237+119T>C (n.237+119T>C) | dbSNP gnomAD v4 |
11 | g.74493348A>T | CA381976562 | LIPT2 | c.356T>A (p.Leu119Gln) c.181+119T>A c.237+119T>A (n.237+119T>A) | |
11 | g.74493349G>A | CA475888350 | LIPT2 | c.355C>T (p.Leu119=) c.181+118C>T c.237+118C>T (n.237+118C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493349G>C | CA381976564 | LIPT2 | c.355C>G (p.Leu119Val) c.181+118C>G c.237+118C>G (n.237+118C>G) | gnomAD v4 |
11 | g.74493349G= | CA1982908753 | LIPT2 | c.355C= (p.Leu119=) c.181+118C= c.237+118C= (n.237+118C=) | |
11 | g.74493349G>T | CA381976565 | LIPT2 | c.355C>A (p.Leu119Met) c.181+118C>A c.237+118C>A (n.237+118C>A) | gnomAD v4 |
11 | g.74493350C>A | CA475888353 | LIPT2 | c.354G>T (p.Ser118=) c.181+117G>T c.237+117G>T (n.237+117G>T) | gnomAD v4 |
11 | g.74493350C= | CA1982908754 | LIPT2 | c.354G= (p.Ser118=) c.181+117G= c.237+117G= (n.237+117G=) | |
11 | g.74493350C>G | CA475888352 | LIPT2 | c.354G>C (p.Ser118=) c.181+117G>C c.237+117G>C (n.237+117G>C) | gnomAD v4 |
11 | g.74493350C>T | CA475888351 | LIPT2 | c.354G>A (p.Ser118=) c.181+117G>A c.237+117G>A (n.237+117G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493351G>A | CA381976566 | LIPT2 | c.353C>T (p.Ser118Leu) c.181+116C>T c.237+116C>T (n.237+116C>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493351G>C | CA381976567 | LIPT2 | c.353C>G (p.Ser118Trp) c.181+116C>G c.237+116C>G (n.237+116C>G) | |
11 | g.74493351G= | CA1982908755 | LIPT2 | c.353C= (p.Ser118=) c.181+116C= c.237+116C= (n.237+116C=) | |
11 | g.74493351G>T | CA381976568 | LIPT2 | c.353C>A (p.Ser118Ter) c.181+116C>A c.237+116C>A (n.237+116C>A) | gnomAD v4 |
11 | g.74493352A>C | CA381976569 | LIPT2 | c.352T>G (p.Ser118Ala) c.181+115T>G c.237+115T>G (n.237+115T>G) | |
11 | g.74493352A>G | CA381976570 | LIPT2 | c.352T>C (p.Ser118Pro) c.181+115T>C c.237+115T>C (n.237+115T>C) | gnomAD v4 |
11 | g.74493352A>T | CA381976571 | LIPT2 | c.352T>A (p.Ser118Thr) c.181+115T>A c.237+115T>A (n.237+115T>A) | gnomAD v4 |
11 | g.74493353C>A | CA475888354 | LIPT2 | c.351G>T (p.Ala117=) c.181+114G>T c.237+114G>T (n.237+114G>T) | gnomAD v4 |
11 | g.74493353C= | CA1982908756 | LIPT2 | c.351G= (p.Ala117=) c.181+114G= c.237+114G= (n.237+114G=) | |
11 | g.74493353C>G | CA475888355 | LIPT2 | c.351G>C (p.Ala117=) c.181+114G>C c.237+114G>C (n.237+114G>C) | gnomAD v4 |
11 | g.74493353C>T | CA475888356 | LIPT2 | c.351G>A (p.Ala117=) c.181+114G>A c.237+114G>A (n.237+114G>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493354G>A | CA381976572 | LIPT2 | c.350C>T (p.Ala117Val) c.181+113C>T c.237+113C>T (n.237+113C>T) | gnomAD v4 |
11 | g.74493354G>C | CA381976573 | LIPT2 | c.350C>G (p.Ala117Gly) c.181+113C>G c.237+113C>G (n.237+113C>G) | |
11 | g.74493354G>T | CA381976574 | LIPT2 | c.350C>A (p.Ala117Glu) c.181+113C>A c.237+113C>A (n.237+113C>A) | gnomAD v4 |
11 | g.74493355C>A | CA381976577 | LIPT2 | c.349G>T (p.Ala117Ser) c.181+112G>T c.237+112G>T (n.237+112G>T) | gnomAD v4 |
11 | g.74493355C= | CA1982908757 | LIPT2 | c.349G= (p.Ala117=) c.181+112G= c.237+112G= (n.237+112G=) | |
11 | g.74493355C>G | CA381976575 | LIPT2 | c.349G>C (p.Ala117Pro) c.181+112G>C c.237+112G>C (n.237+112G>C) | |
11 | g.74493355C>T | CA381976576 | LIPT2 | c.349G>A (p.Ala117Thr) c.181+112G>A c.237+112G>A (n.237+112G>A) | dbSNP |
11 | g.74493356T>A | CA475888357 | LIPT2 | c.348A>T (p.Val116=) c.181+111A>T c.237+111A>T (n.237+111A>T) | |
11 | g.74493356T>C | CA224979290 | LIPT2 | c.348A>G (p.Val116=) c.181+111A>G c.237+111A>G (n.237+111A>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493356T>G | CA475888358 | LIPT2 | c.348A>C (p.Val116=) c.181+111A>C c.237+111A>C (n.237+111A>C) | |
11 | g.74493356T= | CA1982908758 | LIPT2 | c.348A= (p.Val116=) c.181+111A= c.237+111A= (n.237+111A=) | |
11 | g.74493357_74493364del | CA2615095594 | LIPT2 | c.341_348del (p.Met114SerfsTer?) c.181+104_181+111del c.237+104_237+111del (n.237+104_237+111del) | gnomAD v4 |
11 | g.74493357A>C | CA381976578 | LIPT2 | c.347T>G (p.Val116Gly) c.181+110T>G c.237+110T>G (n.237+110T>G) | |
11 | g.74493357A>G | CA381976579 | LIPT2 | c.347T>C (p.Val116Ala) c.181+110T>C c.237+110T>C (n.237+110T>C) | |
11 | g.74493357A>T | CA381976580 | LIPT2 | c.347T>A (p.Val116Glu) c.181+110T>A c.237+110T>A (n.237+110T>A) | |
11 | g.74493358C>A | CA381976581 | LIPT2 | c.346G>T (p.Val116Leu) c.181+109G>T c.237+109G>T (n.237+109G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493358C= | CA1982908759 | LIPT2 | c.346G= (p.Val116=) c.181+109G= c.237+109G= (n.237+109G=) | |
11 | g.74493358C>G | CA381976582 | LIPT2 | c.346G>C (p.Val116Leu) c.181+109G>C c.237+109G>C (n.237+109G>C) | |
11 | g.74493358C>T | CA6184921 | LIPT2 | c.346G>A (p.Val116Ile) c.181+109G>A c.237+109G>A (n.237+109G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.74493359G>A | CA475888359 | LIPT2 | c.345C>T (p.His115=) c.181+108C>T c.237+108C>T (n.237+108C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493359G>C | CA381976583 | LIPT2 | c.345C>G (p.His115Gln) c.181+108C>G c.237+108C>G (n.237+108C>G) | |
11 | g.74493359G= | CA1982908760 | LIPT2 | c.345C= (p.His115=) c.181+108C= c.237+108C= (n.237+108C=) | |
11 | g.74493359G>T | CA381976584 | LIPT2 | c.345C>A (p.His115Gln) c.181+108C>A c.237+108C>A (n.237+108C>A) | |
11 | g.74493360T>A | CA381976585 | LIPT2 | c.344A>T (p.His115Leu) c.181+107A>T c.237+107A>T (n.237+107A>T) | |
11 | g.74493360T>C | CA381976586 | LIPT2 | c.344A>G (p.His115Arg) c.181+107A>G c.237+107A>G (n.237+107A>G) | gnomAD v4 |
11 | g.74493360T>G | CA381976587 | LIPT2 | c.344A>C (p.His115Pro) c.181+107A>C c.237+107A>C (n.237+107A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493360T= | CA1982908761 | LIPT2 | c.344A= (p.His115=) c.181+107A= c.237+107A= (n.237+107A=) | |
11 | g.74493361G>A | CA381976588 | LIPT2 | c.343C>T (p.His115Tyr) c.181+106C>T c.237+106C>T (n.237+106C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493361G>C | CA381976589 | LIPT2 | c.343C>G (p.His115Asp) c.181+106C>G c.237+106C>G (n.237+106C>G) | |
11 | g.74493361G= | CA1982908762 | LIPT2 | c.343C= (p.His115=) c.181+106C= c.237+106C= (n.237+106C=) | |
11 | g.74493361G>T | CA381976590 | LIPT2 | c.343C>A (p.His115Asn) c.181+106C>A c.237+106C>A (n.237+106C>A) | gnomAD v4 |
11 | g.74493362C>A | CA381976593 | LIPT2 | c.342G>T (p.Met114Ile) c.181+105G>T c.237+105G>T (n.237+105G>T) | gnomAD v4 |
11 | g.74493362C= | CA1982908763 | LIPT2 | c.342G= (p.Met114=) c.181+105G= c.237+105G= (n.237+105G=) | |
11 | g.74493362C>G | CA381976592 | LIPT2 | c.342G>C (p.Met114Ile) c.181+105G>C c.237+105G>C (n.237+105G>C) | |
11 | g.74493362C>T | CA381976591 | LIPT2 | c.342G>A (p.Met114Ile) c.181+105G>A c.237+105G>A (n.237+105G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493363A= | CA1982908764 | LIPT2 | c.341T= (p.Met114=) c.181+104T= c.237+104T= (n.237+104T=) | |
11 | g.74493363A>C | CA381976594 | LIPT2 | c.341T>G (p.Met114Arg) c.181+104T>G c.237+104T>G (n.237+104T>G) | |
11 | g.74493363A>G | CA224979291 | LIPT2 | c.341T>C (p.Met114Thr) c.181+104T>C c.237+104T>C (n.237+104T>C) | dbSNP |
11 | g.74493363A>T | CA381976595 | LIPT2 | c.341T>A (p.Met114Lys) c.181+104T>A c.237+104T>A (n.237+104T>A) | |
11 | g.74493364T>A | CA381976596 | LIPT2 | c.340A>T (p.Met114Leu) c.181+103A>T c.237+103A>T (n.237+103A>T) | dbSNP |
11 | g.74493364T>C | CA381976597 | LIPT2 | c.340A>G (p.Met114Val) c.181+103A>G c.237+103A>G (n.237+103A>G) | gnomAD v4 |
11 | g.74493364T>G | CA381976598 | LIPT2 | c.340A>C (p.Met114Leu) c.181+103A>C c.237+103A>C (n.237+103A>C) | |
11 | g.74493364T= | CA1982908765 | LIPT2 | c.340A= (p.Met114=) c.181+103A= c.237+103A= (n.237+103A=) | |
11 | g.74493365G>A | CA475888360 | LIPT2 | c.339C>T (p.Arg113=) c.181+102C>T c.237+102C>T (n.237+102C>T) | gnomAD v4 |
11 | g.74493365G>C | CA475888361 | LIPT2 | c.339C>G (p.Arg113=) c.181+102C>G c.237+102C>G (n.237+102C>G) | |
11 | g.74493365G>T | CA475888362 | LIPT2 | c.339C>A (p.Arg113=) c.181+102C>A c.237+102C>A (n.237+102C>A) | gnomAD v4 |
11 | g.74493366C>A | CA381976599 | LIPT2 | c.338G>T (p.Arg113Leu) c.181+101G>T c.237+101G>T (n.237+101G>T) | gnomAD v4 |
11 | g.74493366C= | CA1982908766 | LIPT2 | c.338G= (p.Arg113=) c.181+101G= c.237+101G= (n.237+101G=) | |
11 | g.74493366C>G | CA381976600 | LIPT2 | c.338G>C (p.Arg113Pro) c.181+101G>C c.237+101G>C (n.237+101G>C) | dbSNP |
11 | g.74493366C>T | CA381976601 | LIPT2 | c.338G>A (p.Arg113His) c.181+101G>A c.237+101G>A (n.237+101G>A) | gnomAD v4 |
11 | g.74493367G>A | CA381976602 | LIPT2 | c.337C>T (p.Arg113Cys) c.181+100C>T c.237+100C>T (n.237+100C>T) | dbSNP gnomAD v4 |
11 | g.74493367G>C | CA381976603 | LIPT2 | c.337C>G (p.Arg113Gly) c.181+100C>G c.237+100C>G (n.237+100C>G) | gnomAD v4 |
11 | g.74493367G= | CA1982908767 | LIPT2 | c.337C= (p.Arg113=) c.181+100C= c.237+100C= (n.237+100C=) | |
11 | g.74493367G>T | CA381976604 | LIPT2 | c.337C>A (p.Arg113Ser) c.181+100C>A c.237+100C>A (n.237+100C>A) | dbSNP gnomAD v4 |
11 | g.74493369_74493372dup | CA2615095595 | LIPT2 | c.334_337dup (p.Arg113LeufsTer?) c.181+97_181+100dup c.237+97_237+100dup (n.237+97_237+100dup) | gnomAD v4 |
11 | g.74493368C>A | CA381976605 | LIPT2 | c.336G>T (p.Leu112Phe) c.181+99G>T c.237+99G>T (n.237+99G>T) | gnomAD v4 |
11 | g.74493368C>G | CA381976606 | LIPT2 | c.336G>C (p.Leu112Phe) c.181+99G>C c.237+99G>C (n.237+99G>C) | |
11 | g.74493368C>T | CA475888363 | LIPT2 | c.336G>A (p.Leu112=) c.181+99G>A c.237+99G>A (n.237+99G>A) | gnomAD v4 |
11 | g.74493369A>C | CA381976608 | LIPT2 | c.335T>G (p.Leu112Trp) c.181+98T>G c.237+98T>G (n.237+98T>G) | |
11 | g.74493369A>G | CA381976609 | LIPT2 | c.335T>C (p.Leu112Ser) c.181+98T>C c.237+98T>C (n.237+98T>C) | gnomAD v4 |
11 | g.74493369A>T | CA381976607 | LIPT2 | c.335T>A (p.Leu112Ter) c.181+98T>A c.237+98T>A (n.237+98T>A) | |
11 | g.74493370A= | CA1982908768 | LIPT2 | c.334T= (p.Leu112=) c.181+97T= c.237+97T= (n.237+97T=) | |
11 | g.74493370A>C | CA381976610 | LIPT2 | c.334T>G (p.Leu112Val) c.181+97T>G c.237+97T>G (n.237+97T>G) | |
11 | g.74493370A>G | CA224979292 | LIPT2 | c.334T>C (p.Leu112=) c.181+97T>C c.237+97T>C (n.237+97T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493370A>T | CA381976611 | LIPT2 | c.334T>A (p.Leu112Met) c.181+97T>A c.237+97T>A (n.237+97T>A) | |
11 | g.74493371G>A | CA475888364 | LIPT2 | c.333C>T (p.Arg111=) c.181+96C>T c.237+96C>T (n.237+96C>T) | dbSNP |
11 | g.74493371G>C | CA475888365 | LIPT2 | c.333C>G (p.Arg111=) c.181+96C>G c.237+96C>G (n.237+96C>G) | |
11 | g.74493371G= | CA1982908769 | LIPT2 | c.333C= (p.Arg111=) c.181+96C= c.237+96C= (n.237+96C=) | |
11 | g.74493371G>T | CA475888366 | LIPT2 | c.333C>A (p.Arg111=) c.181+96C>A c.237+96C>A (n.237+96C>A) | gnomAD v4 |
11 | g.74493373_74493378del | CA2615095596 | LIPT2 | c.328_333del (p.Leu110_Arg111del) c.181+91_181+96del c.237+91_237+96del (n.237+91_237+96del) | gnomAD v4 |
11 | g.74493372C>A | CA381976612 | LIPT2 | c.332G>T (p.Arg111Leu) c.181+95G>T c.237+95G>T (n.237+95G>T) | gnomAD v4 |
11 | g.74493372C= | CA1982908770 | LIPT2 | c.332G= (p.Arg111=) c.181+95G= c.237+95G= (n.237+95G=) | |
11 | g.74493372C>G | CA224979293 | LIPT2 | c.332G>C (p.Arg111Pro) c.181+95G>C c.237+95G>C (n.237+95G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.74493372C>T | CA224979294 | LIPT2 | c.332G>A (p.Arg111His) c.181+95G>A c.237+95G>A (n.237+95G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493378_74493392dup | CA600712377 | LIPT2 | c.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 |
11 | g.74493373G>A | CA381976613 | LIPT2 | c.331C>T (p.Arg111Cys) c.181+94C>T c.237+94C>T (n.237+94C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493373G>C | CA381976614 | LIPT2 | c.331C>G (p.Arg111Gly) c.181+94C>G c.237+94C>G (n.237+94C>G) | dbSNP |
11 | g.74493373G= | CA1982908771 | LIPT2 | c.331C= (p.Arg111=) c.181+94C= c.237+94C= (n.237+94C=) | |
11 | g.74493373G>T | CA381976615 | LIPT2 | c.331C>A (p.Arg111Ser) c.181+94C>A c.237+94C>A (n.237+94C>A) | |
11 | g.74493374C>A | CA475888367 | LIPT2 | c.330G>T (p.Leu110=) c.181+93G>T c.237+93G>T (n.237+93G>T) | |
11 | g.74493374C= | CA1982908772 | LIPT2 | c.330G= (p.Leu110=) c.181+93G= c.237+93G= (n.237+93G=) | |
11 | g.74493374C>G | CA475888368 | LIPT2 | c.330G>C (p.Leu110=) c.181+93G>C c.237+93G>C (n.237+93G>C) | dbSNP gnomAD v4 |
11 | g.74493374C>T | CA475888369 | LIPT2 | c.330G>A (p.Leu110=) c.181+93G>A c.237+93G>A (n.237+93G>A) | gnomAD v4 |
11 | g.74493375A>C | CA381976616 | LIPT2 | c.329T>G (p.Leu110Arg) c.181+92T>G c.237+92T>G (n.237+92T>G) | |
11 | g.74493375A>G | CA381976617 | LIPT2 | c.329T>C (p.Leu110Pro) c.181+92T>C c.237+92T>C (n.237+92T>C) | gnomAD v4 |
11 | g.74493375A>T | CA381976618 | LIPT2 | c.329T>A (p.Leu110Gln) c.181+92T>A c.237+92T>A (n.237+92T>A) | gnomAD v4 |
11 | g.74493376G>A | CA224979295 | LIPT2 | c.328C>T (p.Leu110=) c.181+91C>T c.237+91C>T (n.237+91C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493376G>C | CA381976619 | LIPT2 | c.328C>G (p.Leu110Val) c.181+91C>G c.237+91C>G (n.237+91C>G) | |
11 | g.74493376G= | CA1982908773 | LIPT2 | c.328C= (p.Leu110=) c.181+91C= c.237+91C= (n.237+91C=) | |
11 | g.74493376G>T | CA381976620 | LIPT2 | c.328C>A (p.Leu110Met) c.181+91C>A c.237+91C>A (n.237+91C>A) | gnomAD v4 |
11 | g.74493377G>A | CA475888370 | LIPT2 | c.327C>T (p.Gly109=) c.181+90C>T c.237+90C>T (n.237+90C>T) | gnomAD v4 |
11 | g.74493377G>C | CA475888371 | LIPT2 | c.327C>G (p.Gly109=) c.181+90C>G c.237+90C>G (n.237+90C>G) | |
11 | g.74493377G>T | CA475888372 | LIPT2 | c.327C>A (p.Gly109=) c.181+90C>A c.237+90C>A (n.237+90C>A) | gnomAD v4 |
11 | g.74493378C>A | CA381976621 | LIPT2 | c.326G>T (p.Gly109Val) c.181+89G>T c.237+89G>T (n.237+89G>T) | gnomAD v4 |
11 | g.74493378C= | CA1982908774 | LIPT2 | c.326G= (p.Gly109=) c.181+89G= c.237+89G= (n.237+89G=) | |
11 | g.74493378C>G | CA224979296 | LIPT2 | c.326G>C (p.Gly109Ala) c.181+89G>C c.237+89G>C (n.237+89G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493378C>T | CA224979297 | LIPT2 | c.326G>A (p.Gly109Asp) c.181+89G>A c.237+89G>A (n.237+89G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.74493379C>A | CA381976622 | LIPT2 | c.325G>T (p.Gly109Cys) c.181+88G>T c.237+88G>T (n.237+88G>T) | gnomAD v4 |
11 | g.74493379C= | CA1982908775 | LIPT2 | c.325G= (p.Gly109=) c.181+88G= c.237+88G= (n.237+88G=) | |
11 | g.74493379C>G | CA381976623 | LIPT2 | c.325G>C (p.Gly109Arg) c.181+88G>C c.237+88G>C (n.237+88G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.74493379C>T | CA381976624 | LIPT2 | c.325G>A (p.Gly109Ser) c.181+88G>A c.237+88G>A (n.237+88G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.74493383_74493397dup | CA680150784 | LIPT2 | c.311_325dup (p.Leu108_Gly109insAspLeuArgArgLeu) c.181+74_181+88dup c.237+74_237+88dup (n.237+74_237+88dup) | dbSNP gnomAD v4 |