Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.96254837_96254854delinsA | CA2825001170 | TMEM127 | c.388_405delinsT (p.Ala130TyrfsTer17) c.136_153delinsT (p.Ala46TyrfsTer17) c.-531_-514delinsT (n.-531_-514delinsT) | ClinVar |
2 | g.96254838_96254854delinsAGGATATGGGCGAAGGC | CA1272522481 | TMEM127 | c.388_404delinsGCCTTCGCCCATATCCT (p.Ala130=) c.136_152delinsGCCTTCGCCCATATCCT (p.Ala46=) c.-531_-515delinsGCCTTCGCCCATATCCT (n.-531_-515delinsGCCTTCGCCCATATCCT) | |
2 | g.96254839_96254854del | CA1777331 | TMEM127 | c.388_403del (p.Ala130Ter) c.136_151del (p.Ala46Ter) c.-531_-516del (n.-531_-516del) | dbSNP ExAC gnomAD v2 |
2 | g.96254842T>A | CA347653266 | TMEM127 | c.400A>T (p.Ile134Phe) c.148A>T (p.Ile50Phe) c.-519A>T (n.-519A>T) | |
2 | g.96254842T>C | CA1777333 | TMEM127 | c.400A>G (p.Ile134Val) c.148A>G (p.Ile50Val) c.-519A>G (n.-519A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254842T>G | CA347653265 | TMEM127 | c.400A>C (p.Ile134Leu) c.148A>C (p.Ile50Leu) c.-519A>C (n.-519A>C) | |
2 | g.96254842T= | CA1272522486 | TMEM127 | c.400A= (p.Ile134=) c.148A= (p.Ile50=) c.-519A= (n.-519A=) | |
2 | g.96254843A>C | CA347653267 | TMEM127 | c.399T>G (p.His133Gln) c.147T>G (p.His49Gln) c.-520T>G (n.-520T>G) | |
2 | g.96254843A>G | CA427495379 | TMEM127 | c.399T>C (p.His133=) c.147T>C (p.His49=) c.-520T>C (n.-520T>C) | ClinVar gnomAD v4 |
2 | g.96254843A>T | CA347653268 | TMEM127 | c.399T>A (p.His133Gln) c.147T>A (p.His49Gln) c.-520T>A (n.-520T>A) | |
2 | g.96254844T>A | CA347653269 | TMEM127 | c.398A>T (p.His133Leu) c.146A>T (p.His49Leu) c.-521A>T (n.-521A>T) | |
2 | g.96254844T>C | CA167272 | TMEM127 | c.398A>G (p.His133Arg) c.146A>G (p.His49Arg) c.-521A>G (n.-521A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254844T>G | CA347653270 | TMEM127 | c.398A>C (p.His133Pro) c.146A>C (p.His49Pro) c.-521A>C (n.-521A>C) | |
2 | g.96254844T= | CA1272522487 | TMEM127 | c.398A= (p.His133=) c.146A= (p.His49=) c.-521A= (n.-521A=) | |
2 | g.96254844_96254845delinsTG | CA1272522488 | TMEM127 | c.397_398delinsCA (p.His133=) c.145_146delinsCA (p.His49=) c.-522_-521delinsCA (n.-522_-521delinsCA) | |
2 | g.96254845G>A | CA347653271 | TMEM127 | c.397C>T (p.His133Tyr) c.145C>T (p.His49Tyr) c.-522C>T (n.-522C>T) | ClinVar gnomAD v4 |
2 | g.96254845G>C | CA347653272 | TMEM127 | c.397C>G (p.His133Asp) c.145C>G (p.His49Asp) c.-522C>G (n.-522C>G) | ClinVar |
2 | g.96254845G>T | CA347653273 | TMEM127 | c.397C>A (p.His133Asn) c.145C>A (p.His49Asn) c.-522C>A (n.-522C>A) | |
2 | g.96254847del | CA891842993 | TMEM127 | c.397del (p.His133IlefsTer3) c.145del (p.His49IlefsTer3) c.-522del (n.-522del) | ClinVar dbSNP gnomAD v4 |
2 | g.96254846G>A | CA427495381 | TMEM127 | c.396C>T (p.Ala132=) c.144C>T (p.Ala48=) c.-523C>T (n.-523C>T) | ClinVar dbSNP |
2 | g.96254846G>C | CA427495383 | TMEM127 | c.396C>G (p.Ala132=) c.144C>G (p.Ala48=) c.-523C>G (n.-523C>G) | |
2 | g.96254846G>T | CA427495384 | TMEM127 | c.396C>A (p.Ala132=) c.144C>A (p.Ala48=) c.-523C>A (n.-523C>A) | |
2 | g.96254847G>A | CA347653274 | TMEM127 | c.395C>T (p.Ala132Val) c.143C>T (p.Ala48Val) c.-524C>T (n.-524C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254847G>C | CA347653275 | TMEM127 | c.395C>G (p.Ala132Gly) c.143C>G (p.Ala48Gly) c.-524C>G (n.-524C>G) | |
2 | g.96254847G= | CA1272522489 | TMEM127 | c.395C= (p.Ala132=) c.143C= (p.Ala48=) c.-524C= (n.-524C=) | |
2 | g.96254847G>T | CA347653276 | TMEM127 | c.395C>A (p.Ala132Asp) c.143C>A (p.Ala48Asp) c.-524C>A (n.-524C>A) | |
2 | g.96254848C>A | CA347653278 | TMEM127 | c.394G>T (p.Ala132Ser) c.142G>T (p.Ala48Ser) c.-525G>T (n.-525G>T) | ClinVar dbSNP |
2 | g.96254848C= | CA1272522490 | TMEM127 | c.394G= (p.Ala132=) c.142G= (p.Ala48=) c.-525G= (n.-525G=) | |
2 | g.96254848C>G | CA347653277 | TMEM127 | c.394G>C (p.Ala132Pro) c.142G>C (p.Ala48Pro) c.-525G>C (n.-525G>C) | |
2 | g.96254848C>T | CA195674 | TMEM127 | c.394G>A (p.Ala132Thr) c.142G>A (p.Ala48Thr) c.-525G>A (n.-525G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254849G>A | CA1777334 | TMEM127 | c.393C>T (p.Phe131=) c.141C>T (p.Phe47=) c.-526C>T (n.-526C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.96254849G>C | CA347653279 | TMEM127 | c.393C>G (p.Phe131Leu) c.141C>G (p.Phe47Leu) c.-526C>G (n.-526C>G) | |
2 | g.96254849G= | CA1272522491 | TMEM127 | c.393C= (p.Phe131=) c.141C= (p.Phe47=) c.-526C= (n.-526C=) | |
2 | g.96254849G>T | CA347653280 | TMEM127 | c.393C>A (p.Phe131Leu) c.141C>A (p.Phe47Leu) c.-526C>A (n.-526C>A) | |
2 | g.96254850A>C | CA347653281 | TMEM127 | c.392T>G (p.Phe131Cys) c.140T>G (p.Phe47Cys) c.-527T>G (n.-527T>G) | |
2 | g.96254850A>G | CA347653282 | TMEM127 | c.392T>C (p.Phe131Ser) c.140T>C (p.Phe47Ser) c.-527T>C (n.-527T>C) | |
2 | g.96254850A>T | CA347653283 | TMEM127 | c.392T>A (p.Phe131Tyr) c.140T>A (p.Phe47Tyr) c.-527T>A (n.-527T>A) | |
2 | g.96254851A= | CA1272522492 | TMEM127 | c.391T= (p.Phe131=) c.139T= (p.Phe47=) c.-528T= (n.-528T=) | |
2 | g.96254851A>C | CA347653284 | TMEM127 | c.391T>G (p.Phe131Val) c.139T>G (p.Phe47Val) c.-528T>G (n.-528T>G) | |
2 | g.96254851A>G | CA347653285 | TMEM127 | c.391T>C (p.Phe131Leu) c.139T>C (p.Phe47Leu) c.-528T>C (n.-528T>C) | |
2 | g.96254851A>T | CA347653286 | TMEM127 | c.391T>A (p.Phe131Ile) c.139T>A (p.Phe47Ile) c.-528T>A (n.-528T>A) | ClinVar dbSNP |
2 | g.96254852G>A | CA427495386 | TMEM127 | c.390C>T (p.Ala130=) c.138C>T (p.Ala46=) c.-529C>T (n.-529C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254852G>C | CA427495387 | TMEM127 | c.390C>G (p.Ala130=) c.138C>G (p.Ala46=) c.-529C>G (n.-529C>G) | gnomAD v4 |
2 | g.96254852G= | CA1272522493 | TMEM127 | c.390C= (p.Ala130=) c.138C= (p.Ala46=) c.-529C= (n.-529C=) | |
2 | g.96254852G>T | CA427495388 | TMEM127 | c.390C>A (p.Ala130=) c.138C>A (p.Ala46=) c.-529C>A (n.-529C>A) | |
2 | g.96254853G>A | CA347653287 | TMEM127 | c.389C>T (p.Ala130Val) c.137C>T (p.Ala46Val) c.-530C>T (n.-530C>T) | ClinVar dbSNP |
2 | g.96254853G>C | CA347653288 | TMEM127 | c.389C>G (p.Ala130Gly) c.137C>G (p.Ala46Gly) c.-530C>G (n.-530C>G) | |
2 | g.96254853G>T | CA347653289 | TMEM127 | c.389C>A (p.Ala130Asp) c.137C>A (p.Ala46Asp) c.-530C>A (n.-530C>A) | ClinVar |
2 | g.96254854C>A | CA347653291 | TMEM127 | c.388G>T (p.Ala130Ser) c.136G>T (p.Ala46Ser) c.-531G>T (n.-531G>T) | |
2 | g.96254854C>G | CA347653292 | TMEM127 | c.388G>C (p.Ala130Pro) c.136G>C (p.Ala46Pro) c.-531G>C (n.-531G>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254854C>T | CA347653290 | TMEM127 | c.388G>A (p.Ala130Thr) c.136G>A (p.Ala46Thr) c.-531G>A (n.-531G>A) | gnomAD v4 |
2 | g.96254855A= | CA1272522494 | TMEM127 | c.387T= (p.Tyr129=) c.135T= (p.Tyr45=) c.-532T= (n.-532T=) | |
2 | g.96254855A>C | CA347653293 | TMEM127 | c.387T>G (p.Tyr129Ter) c.135T>G (p.Tyr45Ter) c.-532T>G (n.-532T>G) | |
2 | g.96254855A>G | CA1777335 | TMEM127 | c.387T>C (p.Tyr129=) c.135T>C (p.Tyr45=) c.-532T>C (n.-532T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254855A>T | CA347653294 | TMEM127 | c.387T>A (p.Tyr129Ter) c.135T>A (p.Tyr45Ter) c.-532T>A (n.-532T>A) | |
2 | g.96254855dup | CA2700003839 | TMEM127 | c.387dup (p.Ala130CysfsTer23) c.135dup (p.Ala46CysfsTer23) c.-532dup (n.-532dup) | dbSNP |
2 | g.96254856T>A | CA347653295 | TMEM127 | c.386A>T (p.Tyr129Phe) c.134A>T (p.Tyr45Phe) c.-533A>T (n.-533A>T) | |
2 | g.96254856T>C | CA1777336 | TMEM127 | c.386A>G (p.Tyr129Cys) c.134A>G (p.Tyr45Cys) c.-533A>G (n.-533A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254856T>G | CA347653296 | TMEM127 | c.386A>C (p.Tyr129Ser) c.134A>C (p.Tyr45Ser) c.-533A>C (n.-533A>C) | |
2 | g.96254856T= | CA1272522495 | TMEM127 | c.386A= (p.Tyr129=) c.134A= (p.Tyr45=) c.-533A= (n.-533A=) | |
2 | g.96254857A= | CA1272522496 | TMEM127 | c.385T= (p.Tyr129=) c.133T= (p.Tyr45=) c.-534T= (n.-534T=) | |
2 | g.96254857A>C | CA347653297 | TMEM127 | c.385T>G (p.Tyr129Asp) c.133T>G (p.Tyr45Asp) c.-534T>G (n.-534T>G) | |
2 | g.96254857A>G | CA347653299 | TMEM127 | c.385T>C (p.Tyr129His) c.133T>C (p.Tyr45His) c.-534T>C (n.-534T>C) | ClinVar dbSNP gnomAD v2 COSMIC |
2 | g.96254857A>T | CA347653298 | TMEM127 | c.385T>A (p.Tyr129Asn) c.133T>A (p.Tyr45Asn) c.-534T>A (n.-534T>A) | gnomAD v4 |
2 | g.96254858G>A | CA1777337 | TMEM127 | c.384C>T (p.Arg128=) c.132C>T (p.Arg44=) c.-535C>T (n.-535C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254858G>C | CA427495393 | TMEM127 | c.384C>G (p.Arg128=) c.132C>G (p.Arg44=) c.-535C>G (n.-535C>G) | |
2 | g.96254858G= | CA1272522497 | TMEM127 | c.384C= (p.Arg128=) c.132C= (p.Arg44=) c.-535C= (n.-535C=) | |
2 | g.96254858G>T | CA427495392 | TMEM127 | c.384C>A (p.Arg128=) c.132C>A (p.Arg44=) c.-535C>A (n.-535C>A) | |
2 | g.96254859C>A | CA1777338 | TMEM127 | c.383G>T (p.Arg128Leu) c.131G>T (p.Arg44Leu) c.-536G>T (n.-536G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254859C= | CA1272522498 | TMEM127 | c.383G= (p.Arg128=) c.131G= (p.Arg44=) c.-536G= (n.-536G=) | |
2 | g.96254859C>G | CA347653300 | TMEM127 | c.383G>C (p.Arg128Pro) c.131G>C (p.Arg44Pro) c.-536G>C (n.-536G>C) | |
2 | g.96254859C>T | CA1777339 | TMEM127 | c.383G>A (p.Arg128His) c.131G>A (p.Arg44His) c.-536G>A (n.-536G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254859dup | CA916081311 | TMEM127 | c.383dup (p.Tyr129LeufsTer24) c.131dup (p.Tyr45LeufsTer24) c.-536dup (n.-536dup) | ClinVar dbSNP |
2 | g.96254862_96254864del | CA2739271173 | TMEM127 | c.381_383del (p.Arg128del) c.129_131del (p.Arg44del) c.-538_-536del (n.-538_-536del) | ClinVar |
2 | g.96254860G>A | CA1777340 | TMEM127 | c.382C>T (p.Arg128Cys) c.130C>T (p.Arg44Cys) c.-537C>T (n.-537C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254860G>C | CA347653301 | TMEM127 | c.382C>G (p.Arg128Gly) c.130C>G (p.Arg44Gly) c.-537C>G (n.-537C>G) | |
2 | g.96254860G= | CA1272522499 | TMEM127 | c.382C= (p.Arg128=) c.130C= (p.Arg44=) c.-537C= (n.-537C=) | |
2 | g.96254860G>T | CA347653302 | TMEM127 | c.382C>A (p.Arg128Ser) c.130C>A (p.Arg44Ser) c.-537C>A (n.-537C>A) | |
2 | g.96254861A>C | CA427495395 | TMEM127 | c.381T>G (p.Arg127=) c.129T>G (p.Arg43=) c.-538T>G (n.-538T>G) | dbSNP |
2 | g.96254861A>G | CA427495396 | TMEM127 | c.381T>C (p.Arg127=) c.129T>C (p.Arg43=) c.-538T>C (n.-538T>C) | |
2 | g.96254861A>T | CA427495397 | TMEM127 | c.381T>A (p.Arg127=) c.129T>A (p.Arg43=) c.-538T>A (n.-538T>A) | |
2 | g.96254862C>A | CA347653303 | TMEM127 | c.380G>T (p.Arg127Leu) c.128G>T (p.Arg43Leu) c.-539G>T (n.-539G>T) | |
2 | g.96254862C= | CA1272522500 | TMEM127 | c.380G= (p.Arg127=) c.128G= (p.Arg43=) c.-539G= (n.-539G=) | |
2 | g.96254862C>G | CA347653304 | TMEM127 | c.380G>C (p.Arg127Pro) c.128G>C (p.Arg43Pro) c.-539G>C (n.-539G>C) | ClinVar |
2 | g.96254862C>T | CA1777341 | TMEM127 | c.380G>A (p.Arg127His) c.128G>A (p.Arg43His) c.-539G>A (n.-539G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254863del | CA2580068329 | TMEM127 | c.379del (p.Arg127ValfsTer9) c.127del (p.Arg43ValfsTer9) c.-540del (n.-540del) | ClinVar |
2 | g.96254863G>A | CA1777342 | TMEM127 | c.379C>T (p.Arg127Cys) c.127C>T (p.Arg43Cys) c.-540C>T (n.-540C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254863G>C | CA347653306 | TMEM127 | c.379C>G (p.Arg127Gly) c.127C>G (p.Arg43Gly) c.-540C>G (n.-540C>G) | ClinVar gnomAD v4 |
2 | g.96254863G= | CA1272522501 | TMEM127 | c.379C= (p.Arg127=) c.127C= (p.Arg43=) c.-540C= (n.-540C=) | |
2 | g.96254863G>T | CA347653305 | TMEM127 | c.379C>A (p.Arg127Ser) c.127C>A (p.Arg43Ser) c.-540C>A (n.-540C>A) | |
2 | g.96254864A= | CA1272522502 | TMEM127 | c.378T= (p.Thr126=) c.126T= (p.Thr42=) c.-541T= (n.-541T=) | |
2 | g.96254864A>C | CA427495398 | TMEM127 | c.378T>G (p.Thr126=) c.126T>G (p.Thr42=) c.-541T>G (n.-541T>G) | |
2 | g.96254864A>G | CA1777343 | TMEM127 | c.378T>C (p.Thr126=) c.126T>C (p.Thr42=) c.-541T>C (n.-541T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254864A>T | CA427495400 | TMEM127 | c.378T>A (p.Thr126=) c.126T>A (p.Thr42=) c.-541T>A (n.-541T>A) | ClinVar |
2 | g.96254865G>A | CA1777344 | TMEM127 | c.377C>T (p.Thr126Ile) c.125C>T (p.Thr42Ile) c.-542C>T (n.-542C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254865G>C | CA347653307 | TMEM127 | c.377C>G (p.Thr126Ser) c.125C>G (p.Thr42Ser) c.-542C>G (n.-542C>G) | gnomAD v4 |
2 | g.96254865G= | CA1272522503 | TMEM127 | c.377C= (p.Thr126=) c.125C= (p.Thr42=) c.-542C= (n.-542C=) | |
2 | g.96254865G>T | CA347653308 | TMEM127 | c.377C>A (p.Thr126Asn) c.125C>A (p.Thr42Asn) c.-542C>A (n.-542C>A) | |
2 | g.96254866T>A | CA347653309 | TMEM127 | c.376A>T (p.Thr126Ser) c.124A>T (p.Thr42Ser) c.-543A>T (n.-543A>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254866T>C | CA347653310 | TMEM127 | c.376A>G (p.Thr126Ala) c.124A>G (p.Thr42Ala) c.-543A>G (n.-543A>G) | ClinVar gnomAD v4 |
2 | g.96254866T>G | CA347653311 | TMEM127 | c.376A>C (p.Thr126Pro) c.124A>C (p.Thr42Pro) c.-543A>C (n.-543A>C) | |
2 | g.96254866T= | CA1272522504 | TMEM127 | c.376A= (p.Thr126=) c.124A= (p.Thr42=) c.-543A= (n.-543A=) | |
2 | g.96254867del | CA2660178017 | TMEM127 | c.375del (p.Thr126LeufsTer10) c.123del (p.Thr42LeufsTer10) c.-544del (n.-544del) | gnomAD v4 |
2 | g.96254867G>A | CA427495402 | TMEM127 | c.375C>T (p.Ile125=) c.123C>T (p.Ile41=) c.-544C>T (n.-544C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254867G>C | CA347653312 | TMEM127 | c.375C>G (p.Ile125Met) c.123C>G (p.Ile41Met) c.-544C>G (n.-544C>G) | ClinVar |
2 | g.96254867G= | CA1272522505 | TMEM127 | c.375C= (p.Ile125=) c.123C= (p.Ile41=) c.-544C= (n.-544C=) | |
2 | g.96254867G>T | CA427495403 | TMEM127 | c.375C>A (p.Ile125=) c.123C>A (p.Ile41=) c.-544C>A (n.-544C>A) | |
2 | g.96254868A>C | CA347653313 | TMEM127 | c.374T>G (p.Ile125Ser) c.122T>G (p.Ile41Ser) c.-545T>G (n.-545T>G) | |
2 | g.96254868A>G | CA347653314 | TMEM127 | c.374T>C (p.Ile125Thr) c.122T>C (p.Ile41Thr) c.-545T>C (n.-545T>C) | |
2 | g.96254868A>T | CA347653315 | TMEM127 | c.374T>A (p.Ile125Asn) c.122T>A (p.Ile41Asn) c.-545T>A (n.-545T>A) | |
2 | g.96254869T>A | CA347653318 | TMEM127 | c.373A>T (p.Ile125Phe) c.121A>T (p.Ile41Phe) c.-546A>T (n.-546A>T) | |
2 | g.96254869T>C | CA347653316 | TMEM127 | c.373A>G (p.Ile125Val) c.121A>G (p.Ile41Val) c.-546A>G (n.-546A>G) | |
2 | g.96254869T>G | CA347653317 | TMEM127 | c.373A>C (p.Ile125Leu) c.121A>C (p.Ile41Leu) c.-546A>C (n.-546A>C) | |
2 | g.96254870C>A | CA347653319 | TMEM127 | c.372G>T (p.Lys124Asn) c.120G>T (p.Lys40Asn) c.-547G>T (n.-547G>T) | gnomAD v4 |
2 | g.96254870C>G | CA347653320 | TMEM127 | c.372G>C (p.Lys124Asn) c.120G>C (p.Lys40Asn) c.-547G>C (n.-547G>C) | |
2 | g.96254870C>T | CA427495407 | TMEM127 | c.372G>A (p.Lys124=) c.120G>A (p.Lys40=) c.-547G>A (n.-547G>A) | |
2 | g.96254871T>A | CA347653321 | TMEM127 | c.371A>T (p.Lys124Met) c.119A>T (p.Lys40Met) c.-548A>T (n.-548A>T) | |
2 | g.96254871T>C | CA52412951 | TMEM127 | c.371A>G (p.Lys124Arg) c.119A>G (p.Lys40Arg) c.-548A>G (n.-548A>G) | ClinVar dbSNP |
2 | g.96254871T>G | CA347653322 | TMEM127 | c.371A>C (p.Lys124Thr) c.119A>C (p.Lys40Thr) c.-548A>C (n.-548A>C) | |
2 | g.96254871T= | CA1272522506 | TMEM127 | c.371A= (p.Lys124=) c.119A= (p.Lys40=) c.-548A= (n.-548A=) | |
2 | g.96254872T>A | CA347653323 | TMEM127 | c.370A>T (p.Lys124Ter) c.118A>T (p.Lys40Ter) c.-549A>T (n.-549A>T) | ClinVar dbSNP |
2 | g.96254872T>C | CA347653324 | TMEM127 | c.370A>G (p.Lys124Glu) c.118A>G (p.Lys40Glu) c.-549A>G (n.-549A>G) | ClinVar gnomAD v4 |
2 | g.96254872T>G | CA347653325 | TMEM127 | c.370A>C (p.Lys124Gln) c.118A>C (p.Lys40Gln) c.-549A>C (n.-549A>C) | |
2 | g.96254872T= | CA1272522507 | TMEM127 | c.370A= (p.Lys124=) c.118A= (p.Lys40=) c.-549A= (n.-549A=) | |
2 | g.96254873C>A | CA427495409 | TMEM127 | c.369G>T (p.Leu123=) c.117G>T (p.Leu39=) c.-550G>T (n.-550G>T) | dbSNP |
2 | g.96254873C>G | CA427495410 | TMEM127 | c.369G>C (p.Leu123=) c.117G>C (p.Leu39=) c.-550G>C (n.-550G>C) | |
2 | g.96254873C>T | CA427495411 | TMEM127 | c.369G>A (p.Leu123=) c.117G>A (p.Leu39=) c.-550G>A (n.-550G>A) | |
2 | g.96254874A>C | CA347653326 | TMEM127 | c.368T>G (p.Leu123Arg) c.116T>G (p.Leu39Arg) c.-551T>G (n.-551T>G) | |
2 | g.96254874A>G | CA347653327 | TMEM127 | c.368T>C (p.Leu123Pro) c.116T>C (p.Leu39Pro) c.-551T>C (n.-551T>C) | |
2 | g.96254874A>T | CA347653328 | TMEM127 | c.368T>A (p.Leu123Gln) c.116T>A (p.Leu39Gln) c.-551T>A (n.-551T>A) | |
2 | g.96254875G>A | CA427495414 | TMEM127 | c.367C>T (p.Leu123=) c.115C>T (p.Leu39=) c.-552C>T (n.-552C>T) | |
2 | g.96254875G>C | CA347653330 | TMEM127 | c.367C>G (p.Leu123Val) c.115C>G (p.Leu39Val) c.-552C>G (n.-552C>G) | |
2 | g.96254875G>T | CA347653329 | TMEM127 | c.367C>A (p.Leu123Met) c.115C>A (p.Leu39Met) c.-552C>A (n.-552C>A) | |
2 | g.96254876A>C | CA427495416 | TMEM127 | c.366T>G (p.Ala122=) c.114T>G (p.Ala38=) c.-553T>G (n.-553T>G) | |
2 | g.96254876A>G | CA427495417 | TMEM127 | c.366T>C (p.Ala122=) c.114T>C (p.Ala38=) c.-553T>C (n.-553T>C) | |
2 | g.96254876A>T | CA427495418 | TMEM127 | c.366T>A (p.Ala122=) c.114T>A (p.Ala38=) c.-553T>A (n.-553T>A) | |
2 | g.96254877G>A | CA347653331 | TMEM127 | c.365C>T (p.Ala122Val) c.113C>T (p.Ala38Val) c.-554C>T (n.-554C>T) | ClinVar gnomAD v4 |
2 | g.96254877G>C | CA347653332 | TMEM127 | c.365C>G (p.Ala122Gly) c.113C>G (p.Ala38Gly) c.-554C>G (n.-554C>G) | |
2 | g.96254877G>T | CA347653333 | TMEM127 | c.365C>A (p.Ala122Asp) c.113C>A (p.Ala38Asp) c.-554C>A (n.-554C>A) | |
2 | g.96254878C>A | CA347653334 | TMEM127 | c.364G>T (p.Ala122Ser) c.112G>T (p.Ala38Ser) c.-555G>T (n.-555G>T) | |
2 | g.96254878C= | CA1272522508 | TMEM127 | c.364G= (p.Ala122=) c.112G= (p.Ala38=) c.-555G= (n.-555G=) | |
2 | g.96254878C>G | CA347653335 | TMEM127 | c.364G>C (p.Ala122Pro) c.112G>C (p.Ala38Pro) c.-555G>C (n.-555G>C) | |
2 | g.96254878C>T | CA347653336 | TMEM127 | c.364G>A (p.Ala122Thr) c.112G>A (p.Ala38Thr) c.-555G>A (n.-555G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.96254879A= | CA1272522509 | TMEM127 | c.363T= (p.Pro121=) c.111T= (p.Pro37=) c.-556T= (n.-556T=) | |
2 | g.96254879A>C | CA427495421 | TMEM127 | c.363T>G (p.Pro121=) c.111T>G (p.Pro37=) c.-556T>G (n.-556T>G) | |
2 | g.96254879A>G | CA427495423 | TMEM127 | c.363T>C (p.Pro121=) c.111T>C (p.Pro37=) c.-556T>C (n.-556T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.96254879A>T | CA427495422 | TMEM127 | c.363T>A (p.Pro121=) c.111T>A (p.Pro37=) c.-556T>A (n.-556T>A) | |
2 | g.96254880G>A | CA347653339 | TMEM127 | c.362C>T (p.Pro121Leu) c.110C>T (p.Pro37Leu) c.-557C>T (n.-557C>T) | |
2 | g.96254880G>C | CA347653337 | TMEM127 | c.362C>G (p.Pro121Arg) c.110C>G (p.Pro37Arg) c.-557C>G (n.-557C>G) | |
2 | g.96254880G>T | CA347653338 | TMEM127 | c.362C>A (p.Pro121His) c.110C>A (p.Pro37His) c.-557C>A (n.-557C>A) | |
2 | g.96254881G>A | CA347653340 | TMEM127 | c.361C>T (p.Pro121Ser) c.109C>T (p.Pro37Ser) c.-558C>T (n.-558C>T) | |
2 | g.96254881G>C | CA347653341 | TMEM127 | c.361C>G (p.Pro121Ala) c.109C>G (p.Pro37Ala) c.-558C>G (n.-558C>G) | |
2 | g.96254881G>T | CA347653342 | TMEM127 | c.361C>A (p.Pro121Thr) c.109C>A (p.Pro37Thr) c.-558C>A (n.-558C>A) | gnomAD v4 |
2 | g.96254882A= | CA1272522510 | TMEM127 | c.360T= (p.His120=) c.108T= (p.His36=) c.-559T= (n.-559T=) | |
2 | g.96254882A>C | CA347653343 | TMEM127 | c.360T>G (p.His120Gln) c.108T>G (p.His36Gln) c.-559T>G (n.-559T>G) | |
2 | g.96254882A>G | CA427495424 | TMEM127 | c.360T>C (p.His120=) c.108T>C (p.His36=) c.-559T>C (n.-559T>C) | |
2 | g.96254882A>T | CA347653344 | TMEM127 | c.360T>A (p.His120Gln) c.108T>A (p.His36Gln) c.-559T>A (n.-559T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254883T>A | CA347653345 | TMEM127 | c.359A>T (p.His120Leu) c.107A>T (p.His36Leu) c.-560A>T (n.-560A>T) | gnomAD v4 |
2 | g.96254883T>C | CA1777345 | TMEM127 | c.359A>G (p.His120Arg) c.107A>G (p.His36Arg) c.-560A>G (n.-560A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254883T>G | CA347653346 | TMEM127 | c.359A>C (p.His120Pro) c.107A>C (p.His36Pro) c.-560A>C (n.-560A>C) | |
2 | g.96254883T= | CA1272522511 | TMEM127 | c.359A= (p.His120=) c.107A= (p.His36=) c.-560A= (n.-560A=) | |
2 | g.96254884G>A | CA347653347 | TMEM127 | c.358C>T (p.His120Tyr) c.106C>T (p.His36Tyr) c.-561C>T (n.-561C>T) | |
2 | g.96254884G>C | CA347653348 | TMEM127 | c.358C>G (p.His120Asp) c.106C>G (p.His36Asp) c.-561C>G (n.-561C>G) | |
2 | g.96254884G>T | CA347653349 | TMEM127 | c.358C>A (p.His120Asn) c.106C>A (p.His36Asn) c.-561C>A (n.-561C>A) | |
2 | g.96254885C>A | CA347653350 | TMEM127 | c.357G>T (p.Lys119Asn) c.105G>T (p.Lys35Asn) c.-562G>T (n.-562G>T) | dbSNP |
2 | g.96254885C>G | CA347653351 | TMEM127 | c.357G>C (p.Lys119Asn) c.105G>C (p.Lys35Asn) c.-562G>C (n.-562G>C) | |
2 | g.96254885C>T | CA427495428 | TMEM127 | c.357G>A (p.Lys119=) c.105G>A (p.Lys35=) c.-562G>A (n.-562G>A) | |
2 | g.96254886T>A | CA347653352 | TMEM127 | c.356A>T (p.Lys119Met) c.104A>T (p.Lys35Met) c.-563A>T (n.-563A>T) | |
2 | g.96254886T>C | CA347653353 | TMEM127 | c.356A>G (p.Lys119Arg) c.104A>G (p.Lys35Arg) c.-563A>G (n.-563A>G) | |
2 | g.96254886T>G | CA347653354 | TMEM127 | c.356A>C (p.Lys119Thr) c.104A>C (p.Lys35Thr) c.-563A>C (n.-563A>C) | |
2 | g.96254887T>A | CA347653355 | TMEM127 | c.355A>T (p.Lys119Ter) c.103A>T (p.Lys35Ter) c.-564A>T (n.-564A>T) | |
2 | g.96254887T>C | CA347653356 | TMEM127 | c.355A>G (p.Lys119Glu) c.103A>G (p.Lys35Glu) c.-564A>G (n.-564A>G) | |
2 | g.96254887T>G | CA347653357 | TMEM127 | c.355A>C (p.Lys119Gln) c.103A>C (p.Lys35Gln) c.-564A>C (n.-564A>C) | |
2 | g.96254888C>A | CA427495431 | TMEM127 | c.354G>T (p.Pro118=) c.102G>T (p.Pro34=) c.-565G>T (n.-565G>T) | |
2 | g.96254888C= | CA1272522512 | TMEM127 | c.354G= (p.Pro118=) c.102G= (p.Pro34=) c.-565G= (n.-565G=) | |
2 | g.96254888C>G | CA427495433 | TMEM127 | c.354G>C (p.Pro118=) c.102G>C (p.Pro34=) c.-565G>C (n.-565G>C) | gnomAD v4 |
2 | g.96254888C>T | CA427495434 | TMEM127 | c.354G>A (p.Pro118=) c.102G>A (p.Pro34=) c.-565G>A (n.-565G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254889G>A | CA1777346 | TMEM127 | c.353C>T (p.Pro118Leu) c.101C>T (p.Pro34Leu) c.-566C>T (n.-566C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254889G>C | CA347653359 | TMEM127 | c.353C>G (p.Pro118Arg) c.101C>G (p.Pro34Arg) c.-566C>G (n.-566C>G) | gnomAD v4 |
2 | g.96254889G= | CA1272522513 | TMEM127 | c.353C= (p.Pro118=) c.101C= (p.Pro34=) c.-566C= (n.-566C=) | |
2 | g.96254889G>T | CA347653358 | TMEM127 | c.353C>A (p.Pro118Gln) c.101C>A (p.Pro34Gln) c.-566C>A (n.-566C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254890G>A | CA347653362 | TMEM127 | c.352C>T (p.Pro118Ser) c.100C>T (p.Pro34Ser) c.-567C>T (n.-567C>T) | ClinVar |
2 | g.96254890G>C | CA347653360 | TMEM127 | c.352C>G (p.Pro118Ala) c.100C>G (p.Pro34Ala) c.-567C>G (n.-567C>G) | |
2 | g.96254890G>T | CA347653363 | TMEM127 | c.352C>A (p.Pro118Thr) c.100C>A (p.Pro34Thr) c.-567C>A (n.-567C>A) | |
2 | g.96254891C>A | CA427495435 | TMEM127 | c.351G>T (p.Gly117=) c.99G>T (p.Gly33=) c.-568G>T (n.-568G>T) | |
2 | g.96254891C>G | CA427495437 | TMEM127 | c.351G>C (p.Gly117=) c.99G>C (p.Gly33=) c.-568G>C (n.-568G>C) | |
2 | g.96254891C>T | CA427495436 | TMEM127 | c.351G>A (p.Gly117=) c.99G>A (p.Gly33=) c.-568G>A (n.-568G>A) | |
2 | g.96254892C>A | CA347653365 | TMEM127 | c.350G>T (p.Gly117Val) c.98G>T (p.Gly33Val) c.-569G>T (n.-569G>T) | |
2 | g.96254892C>G | CA347653367 | TMEM127 | c.350G>C (p.Gly117Ala) c.98G>C (p.Gly33Ala) c.-569G>C (n.-569G>C) | |
2 | g.96254892C>T | CA347653368 | TMEM127 | c.350G>A (p.Gly117Glu) c.98G>A (p.Gly33Glu) c.-569G>A (n.-569G>A) | |
2 | g.96254893C>A | CA347653369 | TMEM127 | c.349G>T (p.Gly117Trp) c.97G>T (p.Gly33Trp) c.-570G>T (n.-570G>T) | |
2 | g.96254893C>G | CA347653370 | TMEM127 | c.349G>C (p.Gly117Arg) c.97G>C (p.Gly33Arg) c.-570G>C (n.-570G>C) | |
2 | g.96254893C>T | CA347653372 | TMEM127 | c.349G>A (p.Gly117Arg) c.97G>A (p.Gly33Arg) c.-570G>A (n.-570G>A) | |
2 | g.96254894A= | CA1272522514 | TMEM127 | c.348T= (p.Phe116=) c.96T= (p.Phe32=) c.-571T= (n.-571T=) | |
2 | g.96254894A>C | CA347653375 | TMEM127 | c.348T>G (p.Phe116Leu) c.96T>G (p.Phe32Leu) c.-571T>G (n.-571T>G) | |
2 | g.96254894A>G | CA52412965 | TMEM127 | c.348T>C (p.Phe116=) c.96T>C (p.Phe32=) c.-571T>C (n.-571T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254894A>T | CA347653373 | TMEM127 | c.348T>A (p.Phe116Leu) c.96T>A (p.Phe32Leu) c.-571T>A (n.-571T>A) | ClinVar gnomAD v4 |
2 | g.96254895_96254896del | CA2580068330 | TMEM127 | c.347_348del (p.Phe116TrpfsTer?) c.95_96del (p.Phe32TrpfsTer?) c.-572_-571del (n.-572_-571del) | ClinVar |
2 | g.96254894_96254895insG | CA2577034254 | TMEM127 | c.347_348insC (p.Gly117TrpfsTer?) c.95_96insC (p.Gly33TrpfsTer?) c.-572_-571insC (n.-572_-571insC) | |
2 | g.96254895A>C | CA347653377 | TMEM127 | c.347T>G (p.Phe116Cys) c.95T>G (p.Phe32Cys) c.-572T>G (n.-572T>G) | |
2 | g.96254895A>G | CA347653378 | TMEM127 | c.347T>C (p.Phe116Ser) c.95T>C (p.Phe32Ser) c.-572T>C (n.-572T>C) | |
2 | g.96254895A>T | CA347653379 | TMEM127 | c.347T>A (p.Phe116Tyr) c.95T>A (p.Phe32Tyr) c.-572T>A (n.-572T>A) | |
2 | g.96254896A>C | CA347653380 | TMEM127 | c.346T>G (p.Phe116Val) c.94T>G (p.Phe32Val) c.-573T>G (n.-573T>G) | COSMIC |
2 | g.96254896A>G | CA347653382 | TMEM127 | c.346T>C (p.Phe116Leu) c.94T>C (p.Phe32Leu) c.-573T>C (n.-573T>C) | |
2 | g.96254896A>T | CA347653384 | TMEM127 | c.346T>A (p.Phe116Ile) c.94T>A (p.Phe32Ile) c.-573T>A (n.-573T>A) | |
2 | g.96254897G>A | CA427495443 | TMEM127 | c.345C>T (p.Val115=) c.93C>T (p.Val31=) c.-574C>T (n.-574C>T) | ClinVar dbSNP |
2 | g.96254897G>C | CA427495446 | TMEM127 | c.345C>G (p.Val115=) c.93C>G (p.Val31=) c.-574C>G (n.-574C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254897G= | CA1272522515 | TMEM127 | c.345C= (p.Val115=) c.93C= (p.Val31=) c.-574C= (n.-574C=) | |
2 | g.96254897G>T | CA427495445 | TMEM127 | c.345C>A (p.Val115=) c.93C>A (p.Val31=) c.-574C>A (n.-574C>A) | |
2 | g.96254898A>C | CA347653386 | TMEM127 | c.344T>G (p.Val115Gly) c.92T>G (p.Val31Gly) c.-575T>G (n.-575T>G) | |
2 | g.96254898A>G | CA347653389 | TMEM127 | c.344T>C (p.Val115Ala) c.92T>C (p.Val31Ala) c.-575T>C (n.-575T>C) | |
2 | g.96254898A>T | CA347653387 | TMEM127 | c.344T>A (p.Val115Asp) c.92T>A (p.Val31Asp) c.-575T>A (n.-575T>A) | |
2 | g.96254899del | CA2577034255 | TMEM127 | c.343del (p.Val115SerfsTer9) c.91del (p.Val31SerfsTer9) c.-576del (n.-576del) | |
2 | g.96254899C>A | CA347653390 | TMEM127 | c.343G>T (p.Val115Phe) c.91G>T (p.Val31Phe) c.-576G>T (n.-576G>T) | |
2 | g.96254899C= | CA1272522516 | TMEM127 | c.343G= (p.Val115=) c.91G= (p.Val31=) c.-576G= (n.-576G=) | |
2 | g.96254899C>G | CA347653392 | TMEM127 | c.343G>C (p.Val115Leu) c.91G>C (p.Val31Leu) c.-576G>C (n.-576G>C) | |
2 | g.96254899C>T | CA52412966 | TMEM127 | c.343G>A (p.Val115Ile) c.91G>A (p.Val31Ile) c.-576G>A (n.-576G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.96254899_96254900insT | CA2739271174 | TMEM127 | c.342_343insA (p.Val115SerfsTer?) c.90_91insA (p.Val31SerfsTer?) c.-577_-576insA (n.-577_-576insA) | ClinVar |
2 | g.96254900A>C | CA347653394 | TMEM127 | c.342T>G (p.Asp114Glu) c.90T>G (p.Asp30Glu) c.-577T>G (n.-577T>G) | |
2 | g.96254900A>G | CA427495450 | TMEM127 | c.342T>C (p.Asp114=) c.90T>C (p.Asp30=) c.-577T>C (n.-577T>C) | |
2 | g.96254900A>T | CA347653395 | TMEM127 | c.342T>A (p.Asp114Glu) c.90T>A (p.Asp30Glu) c.-577T>A (n.-577T>A) | |
2 | g.96254901T>A | CA347653397 | TMEM127 | c.341A>T (p.Asp114Val) c.89A>T (p.Asp30Val) c.-578A>T (n.-578A>T) | ClinVar dbSNP |
2 | g.96254901T>C | CA347653399 | TMEM127 | c.341A>G (p.Asp114Gly) c.89A>G (p.Asp30Gly) c.-578A>G (n.-578A>G) | gnomAD v4 |
2 | g.96254901T>G | CA347653400 | TMEM127 | c.341A>C (p.Asp114Ala) c.89A>C (p.Asp30Ala) c.-578A>C (n.-578A>C) | |
2 | g.96254902C>A | CA347653401 | TMEM127 | c.340G>T (p.Asp114Tyr) c.88G>T (p.Asp30Tyr) c.-579G>T (n.-579G>T) | dbSNP gnomAD v4 |
2 | g.96254902C= | CA1272522517 | TMEM127 | c.340G= (p.Asp114=) c.88G= (p.Asp30=) c.-579G= (n.-579G=) | |
2 | g.96254902C>G | CA347653403 | TMEM127 | c.340G>C (p.Asp114His) c.88G>C (p.Asp30His) c.-579G>C (n.-579G>C) | ClinVar dbSNP |
2 | g.96254902C>T | CA347653404 | TMEM127 | c.340G>A (p.Asp114Asn) c.88G>A (p.Asp30Asn) c.-579G>A (n.-579G>A) | |
2 | g.96254903C>A | CA427495455 | TMEM127 | c.339G>T (p.Leu113=) c.87G>T (p.Leu29=) c.-580G>T (n.-580G>T) | |
2 | g.96254903C= | CA1272522518 | TMEM127 | c.339G= (p.Leu113=) c.87G= (p.Leu29=) c.-580G= (n.-580G=) | |
2 | g.96254903C>G | CA427495456 | TMEM127 | c.339G>C (p.Leu113=) c.87G>C (p.Leu29=) c.-580G>C (n.-580G>C) | |
2 | g.96254903C>T | CA1777347 | TMEM127 | c.339G>A (p.Leu113=) c.87G>A (p.Leu29=) c.-580G>A (n.-580G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254904del | CA2660178070 | TMEM127 | c.338del (p.Leu113ArgfsTer11) c.86del (p.Leu29ArgfsTer11) c.-581del (n.-581del) | gnomAD v4 |
2 | g.96254904A>C | CA347653409 | TMEM127 | c.338T>G (p.Leu113Arg) c.86T>G (p.Leu29Arg) c.-581T>G (n.-581T>G) | ClinVar |
2 | g.96254904A>G | CA347653406 | TMEM127 | c.338T>C (p.Leu113Pro) c.86T>C (p.Leu29Pro) c.-581T>C (n.-581T>C) | ClinVar gnomAD v4 |
2 | g.96254904A>T | CA347653408 | TMEM127 | c.338T>A (p.Leu113Gln) c.86T>A (p.Leu29Gln) c.-581T>A (n.-581T>A) | ClinVar |
2 | g.96254904_96254905delinsAG | CA1272522519 | TMEM127 | c.337_338delinsCT (p.Leu113=) c.85_86delinsCT (p.Leu29=) c.-582_-581delinsCT (n.-582_-581delinsCT) | |
2 | g.96254905del | CA658683087 | TMEM127 | c.337del (p.Leu113TrpfsTer11) c.85del (p.Leu29TrpfsTer11) c.-582del (n.-582del) | ClinVar dbSNP |
2 | g.96254905G>A | CA427495457 | TMEM127 | c.337C>T (p.Leu113=) c.85C>T (p.Leu29=) c.-582C>T (n.-582C>T) | |
2 | g.96254905G>C | CA347653411 | TMEM127 | c.337C>G (p.Leu113Val) c.85C>G (p.Leu29Val) c.-582C>G (n.-582C>G) | |
2 | g.96254905G>T | CA347653412 | TMEM127 | c.337C>A (p.Leu113Met) c.85C>A (p.Leu29Met) c.-582C>A (n.-582C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.96254906A>C | CA427495460 | TMEM127 | c.336T>G (p.Leu112=) c.84T>G (p.Leu28=) c.-583T>G (n.-583T>G) | |
2 | g.96254906A>G | CA427495458 | TMEM127 | c.336T>C (p.Leu112=) c.84T>C (p.Leu28=) c.-583T>C (n.-583T>C) | |
2 | g.96254906A>T | CA427495459 | TMEM127 | c.336T>A (p.Leu112=) c.84T>A (p.Leu28=) c.-583T>A (n.-583T>A) | |
2 | g.96254907A= | CA1272522520 | TMEM127 | c.335T= (p.Leu112=) c.83T= (p.Leu28=) c.-584T= (n.-584T=) | |
2 | g.96254907A>C | CA347653414 | TMEM127 | c.335T>G (p.Leu112Arg) c.83T>G (p.Leu28Arg) c.-584T>G (n.-584T>G) | ClinVar dbSNP |
2 | g.96254907A>G | CA347653415 | TMEM127 | c.335T>C (p.Leu112Pro) c.83T>C (p.Leu28Pro) c.-584T>C (n.-584T>C) | ClinVar dbSNP |
2 | g.96254907A>T | CA347653417 | TMEM127 | c.335T>A (p.Leu112His) c.83T>A (p.Leu28His) c.-584T>A (n.-584T>A) | ClinVar |
2 | g.96254908G>A | CA1777348 | TMEM127 | c.334C>T (p.Leu112Phe) c.82C>T (p.Leu28Phe) c.-585C>T (n.-585C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254908G>C | CA347653418 | TMEM127 | c.334C>G (p.Leu112Val) c.82C>G (p.Leu28Val) c.-585C>G (n.-585C>G) | |
2 | g.96254908G= | CA1272522521 | TMEM127 | c.334C= (p.Leu112=) c.82C= (p.Leu28=) c.-585C= (n.-585C=) | |
2 | g.96254908G>T | CA347653420 | TMEM127 | c.334C>A (p.Leu112Ile) c.82C>A (p.Leu28Ile) c.-585C>A (n.-585C>A) | |
2 | g.96254909G>A | CA427495464 | TMEM127 | c.333C>T (p.Phe111=) c.81C>T (p.Phe27=) c.-586C>T (n.-586C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254909G>C | CA347653422 | TMEM127 | c.333C>G (p.Phe111Leu) c.81C>G (p.Phe27Leu) c.-586C>G (n.-586C>G) | |
2 | g.96254909G= | CA1272522522 | TMEM127 | c.333C= (p.Phe111=) c.81C= (p.Phe27=) c.-586C= (n.-586C=) | |
2 | g.96254909G>T | CA347653423 | TMEM127 | c.333C>A (p.Phe111Leu) c.81C>A (p.Phe27Leu) c.-586C>A (n.-586C>A) | |
2 | g.96254910A>C | CA347653428 | TMEM127 | c.332T>G (p.Phe111Cys) c.80T>G (p.Phe27Cys) c.-587T>G (n.-587T>G) | ClinVar dbSNP |
2 | g.96254910A>G | CA347653427 | TMEM127 | c.332T>C (p.Phe111Ser) c.80T>C (p.Phe27Ser) c.-587T>C (n.-587T>C) | ClinVar |
2 | g.96254910A>T | CA347653426 | TMEM127 | c.332T>A (p.Phe111Tyr) c.80T>A (p.Phe27Tyr) c.-587T>A (n.-587T>A) | |
2 | g.96254912del | CA2739271175 | TMEM127 | c.332del (p.Phe111SerfsTer13) c.80del (p.Phe27SerfsTer13) c.-587del (n.-587del) | ClinVar |
2 | g.96254911A= | CA1272522523 | TMEM127 | c.331T= (p.Phe111=) c.79T= (p.Phe27=) c.-588T= (n.-588T=) | |
2 | g.96254911A>C | CA347653429 | TMEM127 | c.331T>G (p.Phe111Val) c.79T>G (p.Phe27Val) c.-588T>G (n.-588T>G) | gnomAD v4 |
2 | g.96254911A>G | CA347653431 | TMEM127 | c.331T>C (p.Phe111Leu) c.79T>C (p.Phe27Leu) c.-588T>C (n.-588T>C) | ClinVar dbSNP gnomAD v4 |
2 | g.96254911A>T | CA347653433 | TMEM127 | c.331T>A (p.Phe111Ile) c.79T>A (p.Phe27Ile) c.-588T>A (n.-588T>A) | |
2 | g.96254912A= | CA1272522524 | TMEM127 | c.330T= (p.Ala110=) c.78T= (p.Ala26=) c.-589T= (n.-589T=) | |
2 | g.96254912A>C | CA427495468 | TMEM127 | c.330T>G (p.Ala110=) c.78T>G (p.Ala26=) c.-589T>G (n.-589T>G) | |
2 | g.96254912A>G | CA427495469 | TMEM127 | c.330T>C (p.Ala110=) c.78T>C (p.Ala26=) c.-589T>C (n.-589T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254912A>T | CA427495471 | TMEM127 | c.330T>A (p.Ala110=) c.78T>A (p.Ala26=) c.-589T>A (n.-589T>A) | ClinVar |
2 | g.96254913G>A | CA347653434 | TMEM127 | c.329C>T (p.Ala110Val) c.77C>T (p.Ala26Val) c.-590C>T (n.-590C>T) | |
2 | g.96254913G>C | CA347653436 | TMEM127 | c.329C>G (p.Ala110Gly) c.77C>G (p.Ala26Gly) c.-590C>G (n.-590C>G) | |
2 | g.96254913G>T | CA347653437 | TMEM127 | c.329C>A (p.Ala110Asp) c.77C>A (p.Ala26Asp) c.-590C>A (n.-590C>A) | |
2 | g.96254914C>A | CA347653438 | TMEM127 | c.328G>T (p.Ala110Ser) c.76G>T (p.Ala26Ser) c.-591G>T (n.-591G>T) | ClinVar dbSNP |
2 | g.96254914C= | CA1272522525 | TMEM127 | c.328G= (p.Ala110=) c.76G= (p.Ala26=) c.-591G= (n.-591G=) | |
2 | g.96254914C>G | CA347653439 | TMEM127 | c.328G>C (p.Ala110Pro) c.76G>C (p.Ala26Pro) c.-591G>C (n.-591G>C) | ClinVar dbSNP |
2 | g.96254914C>T | CA1777349 | TMEM127 | c.328G>A (p.Ala110Thr) c.76G>A (p.Ala26Thr) c.-591G>A (n.-591G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254914dup | CA2580068332 | TMEM127 | c.328dup (p.Ala110GlyfsTer?) c.76dup (p.Ala26GlyfsTer?) c.-591dup (n.-591dup) | ClinVar |
2 | g.96254915G>A | CA1777350 | TMEM127 | c.327C>T (p.Ser109=) c.75C>T (p.Ser25=) c.-592C>T (n.-592C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254915G>C | CA427495475 | TMEM127 | c.327C>G (p.Ser109=) c.75C>G (p.Ser25=) c.-592C>G (n.-592C>G) | ClinVar dbSNP |
2 | g.96254915G= | CA1272522527 | TMEM127 | c.327C= (p.Ser109=) c.75C= (p.Ser25=) c.-592C= (n.-592C=) | |
2 | g.96254915G>T | CA427495477 | TMEM127 | c.327C>A (p.Ser109=) c.75C>A (p.Ser25=) c.-592C>A (n.-592C>A) | |
2 | g.96254916del | CA2697550986 | TMEM127 | c.327del (p.Ala110LeufsTer14) c.75del (p.Ala26LeufsTer14) c.-592del (n.-592del) | ClinVar |
2 | g.96254915_96254919delinsGGAGA | CA1272522526 | TMEM127 | c.323_327delinsTCTCC (p.Leu108=) c.71_75delinsTCTCC (p.Leu24=) c.-596_-592delinsTCTCC (n.-596_-592delinsTCTCC) | |
2 | g.96254916G>A | CA347653441 | TMEM127 | c.326C>T (p.Ser109Phe) c.74C>T (p.Ser25Phe) c.-593C>T (n.-593C>T) | ClinVar dbSNP |
2 | g.96254916G>C | CA347653442 | TMEM127 | c.326C>G (p.Ser109Cys) c.74C>G (p.Ser25Cys) c.-593C>G (n.-593C>G) | |
2 | g.96254916G= | CA1272522528 | TMEM127 | c.326C= (p.Ser109=) c.74C= (p.Ser25=) c.-593C= (n.-593C=) | |
2 | g.96254916G>T | CA347653443 | TMEM127 | c.326C>A (p.Ser109Tyr) c.74C>A (p.Ser25Tyr) c.-593C>A (n.-593C>A) | |
2 | g.96254920_96254921del | CA2739271176 | TMEM127 | c.325_326del (p.Ser109ArgfsTer?) c.73_74del (p.Ser25ArgfsTer?) c.-594_-593del (n.-594_-593del) | ClinVar |
2 | g.96254918_96254921del | CA52412991 | TMEM127 | c.323_326del (p.Leu108ProfsTer15) c.71_74del (p.Leu24ProfsTer15) c.-596_-593del (n.-596_-593del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254917A= | CA1272522529 | TMEM127 | c.325T= (p.Ser109=) c.73T= (p.Ser25=) c.-594T= (n.-594T=) | |
2 | g.96254917A>C | CA347653445 | TMEM127 | c.325T>G (p.Ser109Ala) c.73T>G (p.Ser25Ala) c.-594T>G (n.-594T>G) | |
2 | g.96254917A>G | CA1777351 | TMEM127 | c.325T>C (p.Ser109Pro) c.73T>C (p.Ser25Pro) c.-594T>C (n.-594T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254917A>T | CA347653444 | TMEM127 | c.325T>A (p.Ser109Thr) c.73T>A (p.Ser25Thr) c.-594T>A (n.-594T>A) | |
2 | g.96254918G>A | CA189320 | TMEM127 | c.324C>T (p.Leu108=) c.72C>T (p.Leu24=) c.-595C>T (n.-595C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254918G>C | CA427495482 | TMEM127 | c.324C>G (p.Leu108=) c.72C>G (p.Leu24=) c.-595C>G (n.-595C>G) | |
2 | g.96254918G= | CA1272522530 | TMEM127 | c.324C= (p.Leu108=) c.72C= (p.Leu24=) c.-595C= (n.-595C=) | |
2 | g.96254918G>T | CA427495483 | TMEM127 | c.324C>A (p.Leu108=) c.72C>A (p.Leu24=) c.-595C>A (n.-595C>A) | dbSNP |
2 | g.96254919A= | CA1272522531 | TMEM127 | c.323T= (p.Leu108=) c.71T= (p.Leu24=) c.-596T= (n.-596T=) | |
2 | g.96254919A>C | CA347653447 | TMEM127 | c.323T>G (p.Leu108Arg) c.71T>G (p.Leu24Arg) c.-596T>G (n.-596T>G) | ClinVar dbSNP gnomAD v4 |
2 | g.96254919A>G | CA347653446 | TMEM127 | c.323T>C (p.Leu108Pro) c.71T>C (p.Leu24Pro) c.-596T>C (n.-596T>C) | ClinVar dbSNP |
2 | g.96254919A>T | CA347653449 | TMEM127 | c.323T>A (p.Leu108His) c.71T>A (p.Leu24His) c.-596T>A (n.-596T>A) | |
2 | g.96254920G>A | CA347653450 | TMEM127 | c.322C>T (p.Leu108Phe) c.70C>T (p.Leu24Phe) c.-597C>T (n.-597C>T) | |
2 | g.96254920G>C | CA347653453 | TMEM127 | c.322C>G (p.Leu108Val) c.70C>G (p.Leu24Val) c.-597C>G (n.-597C>G) | dbSNP |
2 | g.96254920G= | CA1272522532 | TMEM127 | c.322C= (p.Leu108=) c.70C= (p.Leu24=) c.-597C= (n.-597C=) | |
2 | g.96254920G>T | CA347653452 | TMEM127 | c.322C>A (p.Leu108Ile) c.70C>A (p.Leu24Ile) c.-597C>A (n.-597C>A) | |
2 | g.96254921A= | CA1272522533 | TMEM127 | c.321T= (p.Ser107=) c.69T= (p.Ser23=) c.-598T= (n.-598T=) | |
2 | g.96254921A>C | CA347653455 | TMEM127 | c.321T>G (p.Ser107Arg) c.69T>G (p.Ser23Arg) c.-598T>G (n.-598T>G) | ClinVar dbSNP gnomAD v4 |
2 | g.96254921A>G | CA427495485 | TMEM127 | c.321T>C (p.Ser107=) c.69T>C (p.Ser23=) c.-598T>C (n.-598T>C) | ClinVar dbSNP |
2 | g.96254921A>T | CA347653456 | TMEM127 | c.321T>A (p.Ser107Arg) c.69T>A (p.Ser23Arg) c.-598T>A (n.-598T>A) | |
2 | g.96254923_96254925del | CA2586964993 | TMEM127 | c.319_321del (p.Ser107del) c.67_69del (p.Ser23del) c.-600_-598del (n.-600_-598del) | |
2 | g.96254922C>A | CA347653458 | TMEM127 | c.320G>T (p.Ser107Ile) c.68G>T (p.Ser23Ile) c.-599G>T (n.-599G>T) | |
2 | g.96254922C>G | CA347653459 | TMEM127 | c.320G>C (p.Ser107Thr) c.68G>C (p.Ser23Thr) c.-599G>C (n.-599G>C) | |
2 | g.96254922C>T | CA347653460 | TMEM127 | c.320G>A (p.Ser107Asn) c.68G>A (p.Ser23Asn) c.-599G>A (n.-599G>A) | |
2 | g.96254923del | CA2825001172 | TMEM127 | c.319del (p.Ser107ValfsTer17) c.67del (p.Ser23ValfsTer17) c.-600del (n.-600del) | ClinVar |
2 | g.96254923T>A | CA347653461 | TMEM127 | c.319A>T (p.Ser107Cys) c.67A>T (p.Ser23Cys) c.-600A>T (n.-600A>T) | |
2 | g.96254923T>C | CA347653462 | TMEM127 | c.319A>G (p.Ser107Gly) c.67A>G (p.Ser23Gly) c.-600A>G (n.-600A>G) | |
2 | g.96254923T>G | CA347653463 | TMEM127 | c.319A>C (p.Ser107Arg) c.67A>C (p.Ser23Arg) c.-600A>C (n.-600A>C) | |
2 | g.96254924A>C | CA347653465 | TMEM127 | c.318T>G (p.Cys106Trp) c.66T>G (p.Cys22Trp) c.-601T>G (n.-601T>G) | |
2 | g.96254924A>G | CA427495492 | TMEM127 | c.318T>C (p.Cys106=) c.66T>C (p.Cys22=) c.-601T>C (n.-601T>C) | |
2 | g.96254924A>T | CA347653466 | TMEM127 | c.318T>A (p.Cys106Ter) c.66T>A (p.Cys22Ter) c.-601T>A (n.-601T>A) | |
2 | g.96254925C>A | CA347653471 | TMEM127 | c.317G>T (p.Cys106Phe) c.65G>T (p.Cys22Phe) c.-602G>T (n.-602G>T) | ClinVar |
2 | g.96254925C>G | CA347653468 | TMEM127 | c.317G>C (p.Cys106Ser) c.65G>C (p.Cys22Ser) c.-602G>C (n.-602G>C) | dbSNP |
2 | g.96254925C>T | CA347653470 | TMEM127 | c.317G>A (p.Cys106Tyr) c.65G>A (p.Cys22Tyr) c.-602G>A (n.-602G>A) | ClinVar gnomAD v4 |
2 | g.96254926A>C | CA347653475 | TMEM127 | c.316T>G (p.Cys106Gly) c.64T>G (p.Cys22Gly) c.-603T>G (n.-603T>G) | |
2 | g.96254926A>G | CA347653477 | TMEM127 | c.316T>C (p.Cys106Arg) c.64T>C (p.Cys22Arg) c.-603T>C (n.-603T>C) | |
2 | g.96254926A>T | CA347653478 | TMEM127 | c.316T>A (p.Cys106Ser) c.64T>A (p.Cys22Ser) c.-603T>A (n.-603T>A) | |
2 | g.96254927C>A | CA427495498 | TMEM127 | c.315G>T (p.Leu105=) c.63G>T (p.Leu21=) c.-604G>T (n.-604G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.96254927C= | CA1272522534 | TMEM127 | c.315G= (p.Leu105=) c.63G= (p.Leu21=) c.-604G= (n.-604G=) | |
2 | g.96254927C>G | CA427495497 | TMEM127 | c.315G>C (p.Leu105=) c.63G>C (p.Leu21=) c.-604G>C (n.-604G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254927C>T | CA427495496 | TMEM127 | c.315G>A (p.Leu105=) c.63G>A (p.Leu21=) c.-604G>A (n.-604G>A) | ClinVar dbSNP |
2 | g.96254928A= | CA1272522535 | TMEM127 | c.314T= (p.Leu105=) c.62T= (p.Leu21=) c.-605T= (n.-605T=) | |
2 | g.96254928A>C | CA52413027 | TMEM127 | c.314T>G (p.Leu105Arg) c.62T>G (p.Leu21Arg) c.-605T>G (n.-605T>G) | ClinVar dbSNP |
2 | g.96254928A>G | CA1777352 | TMEM127 | c.314T>C (p.Leu105Pro) c.62T>C (p.Leu21Pro) c.-605T>C (n.-605T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254928A>T | CA347653480 | TMEM127 | c.314T>A (p.Leu105Gln) c.62T>A (p.Leu21Gln) c.-605T>A (n.-605T>A) | |
2 | g.96254929G>A | CA1777353 | TMEM127 | c.313C>T (p.Leu105=) c.61C>T (p.Leu21=) c.-606C>T (n.-606C>T) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
2 | g.96254929G>C | CA347653482 | TMEM127 | c.313C>G (p.Leu105Val) c.61C>G (p.Leu21Val) c.-606C>G (n.-606C>G) | ClinVar gnomAD v4 |
2 | g.96254929G= | CA1272522536 | TMEM127 | c.313C= (p.Leu105=) c.61C= (p.Leu21=) c.-606C= (n.-606C=) | |
2 | g.96254929G>T | CA347653483 | TMEM127 | c.313C>A (p.Leu105Met) c.61C>A (p.Leu21Met) c.-606C>A (n.-606C>A) | |
2 | g.96254930dup | CA2660178148 | TMEM127 | c.313dup (p.Leu105ProfsTer3) c.61dup (p.Leu21ProfsTer3) c.-606dup (n.-606dup) | gnomAD v4 |
2 | g.96254930G>A | CA427495501 | TMEM127 | c.312C>T (p.Ile104=) c.60C>T (p.Ile20=) c.-607C>T (n.-607C>T) | ClinVar dbSNP COSMIC |
2 | g.96254930G>C | CA347653485 | TMEM127 | c.312C>G (p.Ile104Met) c.60C>G (p.Ile20Met) c.-607C>G (n.-607C>G) | ClinVar dbSNP gnomAD v4 |
2 | g.96254930G>T | CA427495502 | TMEM127 | c.312C>A (p.Ile104=) c.60C>A (p.Ile20=) c.-607C>A (n.-607C>A) | |
2 | g.96254931A>C | CA347653488 | TMEM127 | c.311T>G (p.Ile104Ser) c.59T>G (p.Ile20Ser) c.-608T>G (n.-608T>G) | |
2 | g.96254931A>G | CA347653492 | TMEM127 | c.311T>C (p.Ile104Thr) c.59T>C (p.Ile20Thr) c.-608T>C (n.-608T>C) | |
2 | g.96254931A>T | CA347653486 | TMEM127 | c.311T>A (p.Ile104Asn) c.59T>A (p.Ile20Asn) c.-608T>A (n.-608T>A) | |
2 | g.96254932T>A | CA347653494 | TMEM127 | c.310A>T (p.Ile104Phe) c.58A>T (p.Ile20Phe) c.-609A>T (n.-609A>T) | |
2 | g.96254932T>C | CA347653495 | TMEM127 | c.310A>G (p.Ile104Val) c.58A>G (p.Ile20Val) c.-609A>G (n.-609A>G) | |
2 | g.96254932T>G | CA347653496 | TMEM127 | c.310A>C (p.Ile104Leu) c.58A>C (p.Ile20Leu) c.-609A>C (n.-609A>C) | |
2 | g.96254933G>A | CA427495508 | TMEM127 | c.309C>T (p.Gly103=) c.57C>T (p.Gly19=) c.-610C>T (n.-610C>T) | ClinVar |
2 | g.96254933G>C | CA427495510 | TMEM127 | c.309C>G (p.Gly103=) c.57C>G (p.Gly19=) c.-610C>G (n.-610C>G) | |
2 | g.96254933G>T | CA427495509 | TMEM127 | c.309C>A (p.Gly103=) c.57C>A (p.Gly19=) c.-610C>A (n.-610C>A) | |
2 | g.96254933_96254934delinsGC | CA1272522537 | TMEM127 | c.308_309delinsGC (p.Gly103=) c.56_57delinsGC (p.Gly19=) c.-611_-610delinsGC (n.-611_-610delinsGC) | |
2 | g.96254934C>A | CA347653497 | TMEM127 | c.308G>T (p.Gly103Val) c.56G>T (p.Gly19Val) c.-611G>T (n.-611G>T) | |
2 | g.96254934C= | CA1272522538 | TMEM127 | c.308G= (p.Gly103=) c.56G= (p.Gly19=) c.-611G= (n.-611G=) | |
2 | g.96254934C>G | CA347653499 | TMEM127 | c.308G>C (p.Gly103Ala) c.56G>C (p.Gly19Ala) c.-611G>C (n.-611G>C) | |
2 | g.96254934C>T | CA347653501 | TMEM127 | c.308G>A (p.Gly103Asp) c.56G>A (p.Gly19Asp) c.-611G>A (n.-611G>A) | ClinVar dbSNP gnomAD v2 |
2 | g.96254936del | CA273242 | TMEM127 | c.308del (p.Gly103AlafsTer21) c.56del (p.Gly19AlafsTer21) c.-611del (n.-611del) | ClinVar dbSNP |
2 | g.96254935C>A | CA347653503 | TMEM127 | c.307G>T (p.Gly103Cys) c.55G>T (p.Gly19Cys) c.-612G>T (n.-612G>T) | gnomAD v4 |
2 | g.96254935C>G | CA347653505 | TMEM127 | c.307G>C (p.Gly103Arg) c.55G>C (p.Gly19Arg) c.-612G>C (n.-612G>C) | dbSNP |
2 | g.96254935C>T | CA347653506 | TMEM127 | c.307G>A (p.Gly103Ser) c.55G>A (p.Gly19Ser) c.-612G>A (n.-612G>A) | ClinVar dbSNP |
2 | g.96254936C>A | CA427495512 | TMEM127 | c.306G>T (p.Leu102=) c.54G>T (p.Leu18=) c.-613G>T (n.-613G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254936C= | CA1272522539 | TMEM127 | c.306G= (p.Leu102=) c.54G= (p.Leu18=) c.-613G= (n.-613G=) | |
2 | g.96254936C>G | CA427495513 | TMEM127 | c.306G>C (p.Leu102=) c.54G>C (p.Leu18=) c.-613G>C (n.-613G>C) | |
2 | g.96254936C>T | CA427495515 | TMEM127 | c.306G>A (p.Leu102=) c.54G>A (p.Leu18=) c.-613G>A (n.-613G>A) | |
2 | g.96254937A>C | CA347653508 | TMEM127 | c.305T>G (p.Leu102Arg) c.53T>G (p.Leu18Arg) c.-614T>G (n.-614T>G) | ClinVar gnomAD v4 |
2 | g.96254937A>G | CA347653510 | TMEM127 | c.305T>C (p.Leu102Pro) c.53T>C (p.Leu18Pro) c.-614T>C (n.-614T>C) | |
2 | g.96254937A>T | CA347653512 | TMEM127 | c.305T>A (p.Leu102Gln) c.53T>A (p.Leu18Gln) c.-614T>A (n.-614T>A) | |
2 | g.96254938G>A | CA427495520 | TMEM127 | c.304C>T (p.Leu102=) c.52C>T (p.Leu18=) c.-615C>T (n.-615C>T) | ClinVar |
2 | g.96254938G>C | CA347653513 | TMEM127 | c.304C>G (p.Leu102Val) c.52C>G (p.Leu18Val) c.-615C>G (n.-615C>G) | |
2 | g.96254938G>T | CA347653514 | TMEM127 | c.304C>A (p.Leu102Met) c.52C>A (p.Leu18Met) c.-615C>A (n.-615C>A) | |
2 | g.96254939G>A | CA427495522 | TMEM127 | c.303C>T (p.Phe101=) c.51C>T (p.Phe17=) c.-616C>T (n.-616C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.96254939G>C | CA347653516 | TMEM127 | c.303C>G (p.Phe101Leu) c.51C>G (p.Phe17Leu) c.-616C>G (n.-616C>G) | ClinVar |
2 | g.96254939G= | CA1272522540 | TMEM127 | c.303C= (p.Phe101=) c.51C= (p.Phe17=) c.-616C= (n.-616C=) | |
2 | g.96254939G>T | CA347653517 | TMEM127 | c.303C>A (p.Phe101Leu) c.51C>A (p.Phe17Leu) c.-616C>A (n.-616C>A) | |
2 | g.96254942_96254947dup | CA2580068334 | TMEM127 | c.298_303dup (p.Phe101_Leu102insCysPhe) c.46_51dup (p.Phe17_Leu18insCysPhe) c.-621_-616dup (n.-621_-616dup) | ClinVar |
2 | g.96254940A>C | CA347653519 | TMEM127 | c.302T>G (p.Phe101Cys) c.50T>G (p.Phe17Cys) c.-617T>G (n.-617T>G) | |
2 | g.96254940A>G | CA347653521 | TMEM127 | c.302T>C (p.Phe101Ser) c.50T>C (p.Phe17Ser) c.-617T>C (n.-617T>C) | ClinVar gnomAD v4 |
2 | g.96254940A>T | CA347653522 | TMEM127 | c.302T>A (p.Phe101Tyr) c.50T>A (p.Phe17Tyr) c.-617T>A (n.-617T>A) | |
2 | g.96254942del | CA2660178170 | TMEM127 | c.302del (p.Phe101SerfsTer23) c.50del (p.Phe17SerfsTer23) c.-617del (n.-617del) | gnomAD v4 |
2 | g.96254941A>C | CA347653523 | TMEM127 | c.301T>G (p.Phe101Val) c.49T>G (p.Phe17Val) c.-618T>G (n.-618T>G) | |
2 | g.96254941A>G | CA347653525 | TMEM127 | c.301T>C (p.Phe101Leu) c.49T>C (p.Phe17Leu) c.-618T>C (n.-618T>C) | |
2 | g.96254941A>T | CA347653527 | TMEM127 | c.301T>A (p.Phe101Ile) c.49T>A (p.Phe17Ile) c.-618T>A (n.-618T>A) | |
2 | g.96254942A>C | CA347653529 | TMEM127 | c.300T>G (p.Cys100Trp) c.48T>G (p.Cys16Trp) c.-619T>G (n.-619T>G) | |
2 | g.96254942A>G | CA427495530 | TMEM127 | c.300T>C (p.Cys100=) c.48T>C (p.Cys16=) c.-619T>C (n.-619T>C) | |
2 | g.96254942A>T | CA347653530 | TMEM127 | c.300T>A (p.Cys100Ter) c.48T>A (p.Cys16Ter) c.-619T>A (n.-619T>A) |