Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.96254955_96254965del | CA2580068335 | TMEM127 | c.278_288del (p.Leu93ArgfsTer11) c.26_36del (p.Leu9ArgfsTer11) c.-641_-631del (n.-641_-631del) | ClinVar |
2 | g.96254961del | CA658657048 | TMEM127 | c.283del (p.Val95SerfsTer29) c.31del (p.Val11SerfsTer29) c.-636del (n.-636del) | ClinVar dbSNP |
2 | g.96254961C>A | CA347653584 | TMEM127 | c.281G>T (p.Arg94Leu) c.29G>T (p.Arg10Leu) c.-638G>T (n.-638G>T) | ClinVar dbSNP |
2 | g.96254961C= | CA1272522552 | TMEM127 | c.281G= (p.Arg94=) c.29G= (p.Arg10=) c.-638G= (n.-638G=) | |
2 | g.96254961C>G | CA347653585 | TMEM127 | c.281G>C (p.Arg94Pro) c.29G>C (p.Arg10Pro) c.-638G>C (n.-638G>C) | |
2 | g.96254961C>T | CA1777358 | TMEM127 | c.281G>A (p.Arg94Gln) c.29G>A (p.Arg10Gln) c.-638G>A (n.-638G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.96254962G>A | CA269747 | TMEM127 | c.280C>T (p.Arg94Trp) c.28C>T (p.Arg10Trp) c.-639C>T (n.-639C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254962G>C | CA1777359 | TMEM127 | c.280C>G (p.Arg94Gly) c.28C>G (p.Arg10Gly) c.-639C>G (n.-639C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254962G= | CA1272522553 | TMEM127 | c.280C= (p.Arg94=) c.28C= (p.Arg10=) c.-639C= (n.-639C=) | |
2 | g.96254962G>T | CA16611131 | TMEM127 | c.280C>A (p.Arg94=) c.28C>A (p.Arg10=) c.-639C>A (n.-639C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.96254963C>A | CA427495584 | TMEM127 | c.279G>T (p.Leu93=) c.27G>T (p.Leu9=) c.-640G>T (n.-640G>T) | |
2 | g.96254963C= | CA1272522554 | TMEM127 | c.279G= (p.Leu93=) c.27G= (p.Leu9=) c.-640G= (n.-640G=) | |
2 | g.96254963C>G | CA427495586 | TMEM127 | c.279G>C (p.Leu93=) c.27G>C (p.Leu9=) c.-640G>C (n.-640G>C) | |
2 | g.96254963C>T | CA1777360 | TMEM127 | c.279G>A (p.Leu93=) c.27G>A (p.Leu9=) c.-640G>A (n.-640G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254964A>C | CA347653589 | TMEM127 | c.278T>G (p.Leu93Arg) c.26T>G (p.Leu9Arg) c.-641T>G (n.-641T>G) | ClinVar |
2 | g.96254964A>G | CA347653590 | TMEM127 | c.278T>C (p.Leu93Pro) c.26T>C (p.Leu9Pro) c.-641T>C (n.-641T>C) | ClinVar gnomAD v4 |
2 | g.96254964A>T | CA347653591 | TMEM127 | c.278T>A (p.Leu93Gln) c.26T>A (p.Leu9Gln) c.-641T>A (n.-641T>A) | |
2 | g.96254965G>A | CA427495588 | TMEM127 | c.277C>T (p.Leu93=) c.25C>T (p.Leu9=) c.-642C>T (n.-642C>T) | |
2 | g.96254965G>C | CA347653592 | TMEM127 | c.277C>G (p.Leu93Val) c.25C>G (p.Leu9Val) c.-642C>G (n.-642C>G) | |
2 | g.96254965G>T | CA347653594 | TMEM127 | c.277C>A (p.Leu93Met) c.25C>A (p.Leu9Met) c.-642C>A (n.-642C>A) | |
2 | g.96254966G>A | CA1777361 | TMEM127 | c.276C>T (p.Leu92=) c.24C>T (p.Leu8=) c.-643C>T (n.-643C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254966G>C | CA427495593 | TMEM127 | c.276C>G (p.Leu92=) c.24C>G (p.Leu8=) c.-643C>G (n.-643C>G) | ClinVar dbSNP |
2 | g.96254966G= | CA1272522555 | TMEM127 | c.276C= (p.Leu92=) c.24C= (p.Leu8=) c.-643C= (n.-643C=) | |
2 | g.96254966G>T | CA427495595 | TMEM127 | c.276C>A (p.Leu92=) c.24C>A (p.Leu8=) c.-643C>A (n.-643C>A) | |
2 | g.96254967A>C | CA347653596 | TMEM127 | c.275T>G (p.Leu92Arg) c.23T>G (p.Leu8Arg) c.-644T>G (n.-644T>G) | |
2 | g.96254967A>G | CA347653597 | TMEM127 | c.275T>C (p.Leu92Pro) c.23T>C (p.Leu8Pro) c.-644T>C (n.-644T>C) | gnomAD v4 |
2 | g.96254967A>T | CA347653599 | TMEM127 | c.275T>A (p.Leu92His) c.23T>A (p.Leu8His) c.-644T>A (n.-644T>A) | |
2 | g.96254968G>A | CA347653602 | TMEM127 | c.274C>T (p.Leu92Phe) c.22C>T (p.Leu8Phe) c.-645C>T (n.-645C>T) | |
2 | g.96254968G>C | CA347653603 | TMEM127 | c.274C>G (p.Leu92Val) c.22C>G (p.Leu8Val) c.-645C>G (n.-645C>G) | COSMIC |
2 | g.96254968G>T | CA347653604 | TMEM127 | c.274C>A (p.Leu92Ile) c.22C>A (p.Leu8Ile) c.-645C>A (n.-645C>A) | |
2 | g.96254969C>A | CA427495604 | TMEM127 | c.273G>T (p.Leu91=) c.21G>T (p.Leu7=) c.-646G>T (n.-646G>T) | |
2 | g.96254969C>G | CA427495603 | TMEM127 | c.273G>C (p.Leu91=) c.21G>C (p.Leu7=) c.-646G>C (n.-646G>C) | dbSNP |
2 | g.96254969C>T | CA427495602 | TMEM127 | c.273G>A (p.Leu91=) c.21G>A (p.Leu7=) c.-646G>A (n.-646G>A) | dbSNP |
2 | g.96254970A= | CA1272522556 | TMEM127 | c.272T= (p.Leu91=) c.20T= (p.Leu7=) c.-647T= (n.-647T=) | |
2 | g.96254970A>C | CA347653606 | TMEM127 | c.272T>G (p.Leu91Arg) c.20T>G (p.Leu7Arg) c.-647T>G (n.-647T>G) | |
2 | g.96254970A>G | CA347653608 | TMEM127 | c.272T>C (p.Leu91Pro) c.20T>C (p.Leu7Pro) c.-647T>C (n.-647T>C) | gnomAD v4 |
2 | g.96254970A>T | CA1777362 | TMEM127 | c.272T>A (p.Leu91Gln) c.20T>A (p.Leu7Gln) c.-647T>A (n.-647T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.96254971G>A | CA427495610 | TMEM127 | c.271C>T (p.Leu91=) c.19C>T (p.Leu7=) c.-648C>T (n.-648C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.96254971G>C | CA347653610 | TMEM127 | c.271C>G (p.Leu91Val) c.19C>G (p.Leu7Val) c.-648C>G (n.-648C>G) | |
2 | g.96254971G= | CA1272522557 | TMEM127 | c.271C= (p.Leu91=) c.19C= (p.Leu7=) c.-648C= (n.-648C=) | |
2 | g.96254971G>T | CA347653612 | TMEM127 | c.271C>A (p.Leu91Met) c.19C>A (p.Leu7Met) c.-648C>A (n.-648C>A) | ClinVar dbSNP |
2 | g.96254972C>A | CA1777363 | TMEM127 | c.270G>T (p.Val90=) c.18G>T (p.Val6=) c.-649G>T (n.-649G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.96254972C= | CA1272522558 | TMEM127 | c.270G= (p.Val90=) c.18G= (p.Val6=) c.-649G= (n.-649G=) | |
2 | g.96254972C>G | CA427495617 | TMEM127 | c.270G>C (p.Val90=) c.18G>C (p.Val6=) c.-649G>C (n.-649G>C) | |
2 | g.96254972C>T | CA427495618 | TMEM127 | c.270G>A (p.Val90=) c.18G>A (p.Val6=) c.-649G>A (n.-649G>A) | ClinVar dbSNP |
2 | g.96254973A>C | CA347653617 | TMEM127 | c.269T>G (p.Val90Gly) c.17T>G (p.Val6Gly) c.-650T>G (n.-650T>G) | |
2 | g.96254973A>G | CA347653615 | TMEM127 | c.269T>C (p.Val90Ala) c.17T>C (p.Val6Ala) c.-650T>C (n.-650T>C) | |
2 | g.96254973A>T | CA347653614 | TMEM127 | c.269T>A (p.Val90Glu) c.17T>A (p.Val6Glu) c.-650T>A (n.-650T>A) | |
2 | g.96254973_96254977delinsACTGT | CA1272522559 | TMEM127 | c.265_269delinsACAGT (p.Thr89=) c.13_17delinsACAGT (p.Thr5=) c.-654_-650delinsACAGT (n.-654_-650delinsACAGT) | |
2 | g.96254974C>A | CA347653619 | TMEM127 | c.268G>T (p.Val90Leu) c.16G>T (p.Val6Leu) c.-651G>T (n.-651G>T) |