| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.101646763G>A | CA7764589 | TM2D3 | c.464C>T (p.Pro155Leu) c.386C>T (p.Pro129Leu) c.295C>T c.765C>T n.485C>T c.*832C>T (n.*832C>T) n.406C>T c.269C>T (p.Pro90Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.101646763G>C | CA393979050 | TM2D3 | c.464C>G (p.Pro155Arg) c.386C>G (p.Pro129Arg) c.295C>G c.765C>G n.485C>G c.*832C>G (n.*832C>G) n.406C>G c.269C>G (p.Pro90Arg) | |
| 15 | g.101646763G= | CA2200628484 | TM2D3 | c.464C= (p.Pro155=) c.386C= (p.Pro129=) c.295C= c.765C= n.485C= c.*832C= (n.*832C=) n.406C= c.269C= (p.Pro90=) | |
| 15 | g.101646763G>T | CA393979052 | TM2D3 | c.464C>A (p.Pro155His) c.386C>A (p.Pro129His) c.295C>A c.765C>A n.485C>A c.*832C>A (n.*832C>A) n.406C>A c.269C>A (p.Pro90His) | |
| 15 | g.101646765del | CA2630689651 | TM2D3 | c.464del (p.Pro155LeufsTer?) c.386del (p.Pro129LeufsTer?) c.295del c.765del n.485del c.*832del (n.*832del) n.406del c.269del (p.Pro90LeufsTer?) | gnomAD v4 |
| 15 | g.101646764G>A | CA393979056 | TM2D3 | c.463C>T (p.Pro155Ser) c.385C>T (p.Pro129Ser) c.294C>T c.764C>T n.484C>T c.*831C>T (n.*831C>T) n.405C>T c.268C>T (p.Pro90Ser) | |
| 15 | g.101646764G>C | CA393979058 | TM2D3 | c.463C>G (p.Pro155Ala) c.385C>G (p.Pro129Ala) c.294C>G c.764C>G n.484C>G c.*831C>G (n.*831C>G) n.405C>G c.268C>G (p.Pro90Ala) | |
| 15 | g.101646764G>T | CA393979054 | TM2D3 | c.463C>A (p.Pro155Thr) c.385C>A (p.Pro129Thr) c.294C>A c.764C>A n.484C>A c.*831C>A (n.*831C>A) n.405C>A c.268C>A (p.Pro90Thr) | |
| 15 | g.101646765G>A | CA492691485 | TM2D3 | c.462C>T (p.Tyr154=) c.384C>T (p.Tyr128=) c.293C>T c.763C>T n.483C>T c.*830C>T (n.*830C>T) n.404C>T c.267C>T (p.Tyr89=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.101646765G>C | CA393979064 | TM2D3 | c.462C>G (p.Tyr154Ter) c.384C>G (p.Tyr128Ter) c.293C>G c.763C>G n.483C>G c.*830C>G (n.*830C>G) n.404C>G c.267C>G (p.Tyr89Ter) | |
| 15 | g.101646765G= | CA2200628485 | TM2D3 | c.462C= (p.Tyr154=) c.384C= (p.Tyr128=) c.293C= c.763C= n.483C= c.*830C= (n.*830C=) n.404C= c.267C= (p.Tyr89=) | |
| 15 | g.101646765G>T | CA393979061 | TM2D3 | c.462C>A (p.Tyr154Ter) c.384C>A (p.Tyr128Ter) c.293C>A c.763C>A n.483C>A c.*830C>A (n.*830C>A) n.404C>A c.267C>A (p.Tyr89Ter) | |
| 15 | g.101646766T>A | CA393979067 | TM2D3 | c.461A>T (p.Tyr154Phe) c.383A>T (p.Tyr128Phe) c.292A>T c.762A>T n.482A>T c.*829A>T (n.*829A>T) n.403A>T c.266A>T (p.Tyr89Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.101646766T>C | CA393979070 | TM2D3 | c.461A>G (p.Tyr154Cys) c.383A>G (p.Tyr128Cys) c.292A>G c.762A>G n.482A>G c.*829A>G (n.*829A>G) n.403A>G c.266A>G (p.Tyr89Cys) | gnomAD v4 |
| 15 | g.101646766T>G | CA393979072 | TM2D3 | c.461A>C (p.Tyr154Ser) c.383A>C (p.Tyr128Ser) c.292A>C c.762A>C n.482A>C c.*829A>C (n.*829A>C) n.403A>C c.266A>C (p.Tyr89Ser) | gnomAD v4 |
| 15 | g.101646766T= | CA2200628486 | TM2D3 | c.461A= (p.Tyr154=) c.383A= (p.Tyr128=) c.292A= c.762A= n.482A= c.*829A= (n.*829A=) n.403A= c.266A= (p.Tyr89=) | |
| 15 | g.101646767A= | CA2200628487 | TM2D3 | c.460T= (p.Tyr154=) c.382T= (p.Tyr128=) c.291T= c.761T= n.481T= c.*828T= (n.*828T=) n.402T= c.265T= (p.Tyr89=) | |
| 15 | g.101646767A>C | CA393979073 | TM2D3 | c.460T>G (p.Tyr154Asp) c.382T>G (p.Tyr128Asp) c.291T>G c.761T>G n.481T>G c.*828T>G (n.*828T>G) n.402T>G c.265T>G (p.Tyr89Asp) | |
| 15 | g.101646767A>G | CA393979076 | TM2D3 | c.460T>C (p.Tyr154His) c.382T>C (p.Tyr128His) c.291T>C c.761T>C n.481T>C c.*828T>C (n.*828T>C) n.402T>C c.265T>C (p.Tyr89His) | dbSNP gnomAD v4 |
| 15 | g.101646767A>T | CA393979079 | TM2D3 | c.460T>A (p.Tyr154Asn) c.382T>A (p.Tyr128Asn) c.291T>A c.761T>A n.481T>A c.*828T>A (n.*828T>A) n.402T>A c.265T>A (p.Tyr89Asn) | |
| 15 | g.101646768G>A | CA492691486 | TM2D3 | c.459C>T (p.Arg153=) c.381C>T (p.Arg127=) c.290C>T c.760C>T n.480C>T c.*827C>T (n.*827C>T) n.401C>T c.264C>T (p.Arg88=) | |
| 15 | g.101646768G>C | CA492691487 | TM2D3 | c.459C>G (p.Arg153=) c.381C>G (p.Arg127=) c.290C>G c.760C>G n.480C>G c.*827C>G (n.*827C>G) n.401C>G c.264C>G (p.Arg88=) | |
| 15 | g.101646768G>T | CA492691488 | TM2D3 | c.459C>A (p.Arg153=) c.381C>A (p.Arg127=) c.290C>A c.760C>A n.480C>A c.*827C>A (n.*827C>A) n.401C>A c.264C>A (p.Arg88=) | |
| 15 | g.101646769C>A | CA393979084 | TM2D3 | c.458G>T (p.Arg153Leu) c.380G>T (p.Arg127Leu) c.289G>T c.759G>T n.479G>T c.*826G>T (n.*826G>T) n.400G>T c.263G>T (p.Arg88Leu) | |
| 15 | g.101646769C= | CA2200628488 | TM2D3 | c.458G= (p.Arg153=) c.380G= (p.Arg127=) c.289G= c.759G= n.479G= c.*826G= (n.*826G=) n.400G= c.263G= (p.Arg88=) | |
| 15 | g.101646769C>G | CA393979082 | TM2D3 | c.458G>C (p.Arg153Pro) c.380G>C (p.Arg127Pro) c.289G>C c.759G>C n.479G>C c.*826G>C (n.*826G>C) n.400G>C c.263G>C (p.Arg88Pro) | |
| 15 | g.101646769C>T | CA7764590 | TM2D3 | c.458G>A (p.Arg153His) c.380G>A (p.Arg127His) c.289G>A c.759G>A n.479G>A c.*826G>A (n.*826G>A) n.400G>A c.263G>A (p.Arg88His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.101646770G>A | CA393979087 | TM2D3 | c.457C>T (p.Arg153Cys) c.379C>T (p.Arg127Cys) c.288C>T c.758C>T n.478C>T c.*825C>T (n.*825C>T) n.399C>T c.262C>T (p.Arg88Cys) | dbSNP gnomAD v4 |
| 15 | g.101646770G>C | CA393979090 | TM2D3 | c.457C>G (p.Arg153Gly) c.379C>G (p.Arg127Gly) c.288C>G c.758C>G n.478C>G c.*825C>G (n.*825C>G) n.399C>G c.262C>G (p.Arg88Gly) | gnomAD v4 |
| 15 | g.101646770G= | CA2200628489 | TM2D3 | c.457C= (p.Arg153=) c.379C= (p.Arg127=) c.288C= c.758C= n.478C= c.*825C= (n.*825C=) n.399C= c.262C= (p.Arg88=) | |
| 15 | g.101646770G>T | CA393979092 | TM2D3 | c.457C>A (p.Arg153Ser) c.379C>A (p.Arg127Ser) c.288C>A c.758C>A n.478C>A c.*825C>A (n.*825C>A) n.399C>A c.262C>A (p.Arg88Ser) | |
| 15 | g.101646771C>A | CA393979093 | TM2D3 | c.456G>T (p.Gln152His) c.378G>T (p.Gln126His) c.287G>T c.757G>T n.477G>T c.*824G>T (n.*824G>T) n.398G>T c.261G>T (p.Gln87His) | |
| 15 | g.101646771C>G | CA393979094 | TM2D3 | c.456G>C (p.Gln152His) c.378G>C (p.Gln126His) c.287G>C c.757G>C n.477G>C c.*824G>C (n.*824G>C) n.398G>C c.261G>C (p.Gln87His) | gnomAD v4 |
| 15 | g.101646771C>T | CA492691493 | TM2D3 | c.456G>A (p.Gln152=) c.378G>A (p.Gln126=) c.287G>A c.757G>A n.477G>A c.*824G>A (n.*824G>A) n.398G>A c.261G>A (p.Gln87=) | |
| 15 | g.101646772T>A | CA393979095 | TM2D3 | c.455A>T (p.Gln152Leu) c.377A>T (p.Gln126Leu) c.286A>T c.756A>T n.476A>T c.*823A>T (n.*823A>T) n.397A>T c.260A>T (p.Gln87Leu) | |
| 15 | g.101646772T>C | CA276363011 | TM2D3 | c.455A>G (p.Gln152Arg) c.377A>G (p.Gln126Arg) c.286A>G c.756A>G n.476A>G c.*823A>G (n.*823A>G) n.397A>G c.260A>G (p.Gln87Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.101646772T>G | CA393979096 | TM2D3 | c.455A>C (p.Gln152Pro) c.377A>C (p.Gln126Pro) c.286A>C c.756A>C n.476A>C c.*823A>C (n.*823A>C) n.397A>C c.260A>C (p.Gln87Pro) | |
| 15 | g.101646772T= | CA2200628490 | TM2D3 | c.455A= (p.Gln152=) c.377A= (p.Gln126=) c.286A= c.756A= n.476A= c.*823A= (n.*823A=) n.397A= c.260A= (p.Gln87=) | |
| 15 | g.101646773G>A | CA393979097 | TM2D3 | c.454C>T (p.Gln152Ter) c.376C>T (p.Gln126Ter) c.285C>T c.755C>T n.475C>T c.*822C>T (n.*822C>T) n.396C>T c.259C>T (p.Gln87Ter) | |
| 15 | g.101646773G>C | CA393979098 | TM2D3 | c.454C>G (p.Gln152Glu) c.376C>G (p.Gln126Glu) c.285C>G c.755C>G n.475C>G c.*822C>G (n.*822C>G) n.396C>G c.259C>G (p.Gln87Glu) | |
| 15 | g.101646773G>T | CA393979100 | TM2D3 | c.454C>A (p.Gln152Lys) c.376C>A (p.Gln126Lys) c.285C>A c.755C>A n.475C>A c.*822C>A (n.*822C>A) n.396C>A c.259C>A (p.Gln87Lys) | |
| 15 | g.101646774C>A | CA492691499 | TM2D3 | c.453G>T (p.Arg151=) c.375G>T (p.Arg125=) c.284G>T c.754G>T n.474G>T c.*821G>T (n.*821G>T) n.395G>T c.258G>T (p.Arg86=) | |
| 15 | g.101646774C= | CA2200628491 | TM2D3 | c.453G= (p.Arg151=) c.375G= (p.Arg125=) c.284G= c.754G= n.474G= c.*821G= (n.*821G=) n.395G= c.258G= (p.Arg86=) | |
| 15 | g.101646774C>G | CA492691497 | TM2D3 | c.453G>C (p.Arg151=) c.375G>C (p.Arg125=) c.284G>C c.754G>C n.474G>C c.*821G>C (n.*821G>C) n.395G>C c.258G>C (p.Arg86=) | |
| 15 | g.101646774C>T | CA276363017 | TM2D3 | c.453G>A (p.Arg151=) c.375G>A (p.Arg125=) c.284G>A c.754G>A n.474G>A c.*821G>A (n.*821G>A) n.395G>A c.258G>A (p.Arg86=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.101646775C>A | CA393979102 | TM2D3 | c.452G>T (p.Arg151Leu) c.374G>T (p.Arg125Leu) c.283G>T c.753G>T n.473G>T c.*820G>T (n.*820G>T) n.394G>T c.257G>T (p.Arg86Leu) | |
| 15 | g.101646775C= | CA2200628492 | TM2D3 | c.452G= (p.Arg151=) c.374G= (p.Arg125=) c.283G= c.753G= n.473G= c.*820G= (n.*820G=) n.394G= c.257G= (p.Arg86=) | |
| 15 | g.101646775C>G | CA393979104 | TM2D3 | c.452G>C (p.Arg151Pro) c.374G>C (p.Arg125Pro) c.283G>C c.753G>C n.473G>C c.*820G>C (n.*820G>C) n.394G>C c.257G>C (p.Arg86Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.101646775C>T | CA276363025 | TM2D3 | c.452G>A (p.Arg151Gln) c.374G>A (p.Arg125Gln) c.283G>A c.753G>A n.473G>A c.*820G>A (n.*820G>A) n.394G>A c.257G>A (p.Arg86Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.101646776G>A | CA7764591 | TM2D3 | c.451C>T (p.Arg151Trp) c.373C>T (p.Arg125Trp) c.282C>T c.752C>T n.472C>T c.*819C>T (n.*819C>T) n.393C>T c.256C>T (p.Arg86Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |