| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.49061631_49061636del | CA2568055095 | NTF4 | c.362_367del (p.Leu121Ter) c.243+119_243+124del (n.243+119_243+124del) c.392_397del (p.Leu131Ter) n.407_412del | |
| 19 | g.49061635C>A | CA406806352 | NTF4 | c.363G>T (p.Leu121Phe) c.243+120G>T (n.243+120G>T) c.393G>T (p.Leu131Phe) n.408G>T | |
| 19 | g.49061635C>G | CA406806355 | NTF4 | c.363G>C (p.Leu121Phe) c.243+120G>C (n.243+120G>C) c.393G>C (p.Leu131Phe) n.408G>C | |
| 19 | g.49061635C>T | CA508279154 | NTF4 | c.363G>A (p.Leu121=) c.243+120G>A (n.243+120G>A) c.393G>A (p.Leu131=) n.408G>A | gnomAD v4 |
| 19 | g.49061636A>C | CA406806356 | NTF4 | c.362T>G (p.Leu121Trp) c.243+119T>G (n.243+119T>G) c.392T>G (p.Leu131Trp) n.407T>G | |
| 19 | g.49061636A>G | CA406806357 | NTF4 | c.362T>C (p.Leu121Ser) c.243+119T>C (n.243+119T>C) c.392T>C (p.Leu131Ser) n.407T>C | |
| 19 | g.49061636A>T | CA406806358 | NTF4 | c.362T>A (p.Leu121Ter) c.243+119T>A (n.243+119T>A) c.392T>A (p.Leu131Ter) n.407T>A | |
| 19 | g.49061637A= | CA2340217365 | NTF4 | c.361T= (p.Leu121=) c.243+118T= (n.243+118T=) c.391T= (p.Leu131=) n.406T= | |
| 19 | g.49061637A>C | CA406806360 | NTF4 | c.361T>G (p.Leu121Val) c.243+118T>G (n.243+118T>G) c.391T>G (p.Leu131Val) n.406T>G | |
| 19 | g.49061637A>G | CA9565653 | NTF4 | c.361T>C (p.Leu121=) c.243+118T>C (n.243+118T>C) c.391T>C (p.Leu131=) n.406T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49061637A>T | CA406806363 | NTF4 | c.361T>A (p.Leu121Met) c.243+118T>A (n.243+118T>A) c.391T>A (p.Leu131Met) n.406T>A | |
| 19 | g.49061638C>A | CA508279155 | NTF4 | c.360G>T (p.Val120=) c.243+117G>T (n.243+117G>T) c.390G>T (p.Val130=) n.405G>T | |
| 19 | g.49061638C>G | CA508279156 | NTF4 | c.360G>C (p.Val120=) c.243+117G>C (n.243+117G>C) c.390G>C (p.Val130=) n.405G>C | |
| 19 | g.49061638C>T | CA508279157 | NTF4 | c.360G>A (p.Val120=) c.243+117G>A (n.243+117G>A) c.390G>A (p.Val130=) n.405G>A | |
| 19 | g.49061639A>C | CA406806366 | NTF4 | c.359T>G (p.Val120Gly) c.243+116T>G (n.243+116T>G) c.389T>G (p.Val130Gly) n.404T>G | |
| 19 | g.49061639A>G | CA406806367 | NTF4 | c.359T>C (p.Val120Ala) c.243+116T>C (n.243+116T>C) c.389T>C (p.Val130Ala) n.404T>C | |
| 19 | g.49061639A>T | CA406806370 | NTF4 | c.359T>A (p.Val120Glu) c.243+116T>A (n.243+116T>A) c.389T>A (p.Val130Glu) n.404T>A | gnomAD v4 |
| 19 | g.49061640C>A | CA406806378 | NTF4 | c.358G>T (p.Val120Leu) c.243+115G>T (n.243+115G>T) c.388G>T (p.Val130Leu) n.403G>T | gnomAD v4 |
| 19 | g.49061640C>G | CA406806377 | NTF4 | c.358G>C (p.Val120Leu) c.243+115G>C (n.243+115G>C) c.388G>C (p.Val130Leu) n.403G>C | gnomAD v4 |
| 19 | g.49061640C>T | CA406806374 | NTF4 | c.358G>A (p.Val120Met) c.243+115G>A (n.243+115G>A) c.388G>A (p.Val130Met) n.403G>A | |
| 19 | g.49061641C>A | CA406806379 | NTF4 | c.357G>T (p.Glu119Asp) c.243+114G>T (n.243+114G>T) c.387G>T (p.Glu129Asp) n.402G>T | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.49061641C= | CA2340217366 | NTF4 | c.357G= (p.Glu119=) c.243+114G= (n.243+114G=) c.387G= (p.Glu129=) n.402G= | |
| 19 | g.49061641C>G | CA406806380 | NTF4 | c.357G>C (p.Glu119Asp) c.243+114G>C (n.243+114G>C) c.387G>C (p.Glu129Asp) n.402G>C | |
| 19 | g.49061641C>T | CA508279160 | NTF4 | c.357G>A (p.Glu119=) c.243+114G>A (n.243+114G>A) c.387G>A (p.Glu129=) n.402G>A | |
| 19 | g.49061642T>A | CA406806381 | NTF4 | c.356A>T (p.Glu119Val) c.243+113A>T (n.243+113A>T) c.386A>T (p.Glu129Val) n.401A>T | |
| 19 | g.49061642T>C | CA406806384 | NTF4 | c.356A>G (p.Glu119Gly) c.243+113A>G (n.243+113A>G) c.386A>G (p.Glu129Gly) n.401A>G | |
| 19 | g.49061642T>G | CA406806387 | NTF4 | c.356A>C (p.Glu119Ala) c.243+113A>C (n.243+113A>C) c.386A>C (p.Glu129Ala) n.401A>C | |
| 19 | g.49061643C>A | CA406806390 | NTF4 | c.355G>T (p.Glu119Ter) c.243+112G>T (n.243+112G>T) c.385G>T (p.Glu129Ter) n.400G>T | |
| 19 | g.49061643C>G | CA406806397 | NTF4 | c.355G>C (p.Glu119Gln) c.243+112G>C (n.243+112G>C) c.385G>C (p.Glu129Gln) n.400G>C | |
| 19 | g.49061643C>T | CA406806399 | NTF4 | c.355G>A (p.Glu119Lys) c.243+112G>A (n.243+112G>A) c.385G>A (p.Glu129Lys) n.400G>A | |
| 19 | g.49061644C>A | CA508279164 | NTF4 | c.354G>T (p.Val118=) c.243+111G>T (n.243+111G>T) c.384G>T (p.Val128=) n.399G>T | |
| 19 | g.49061644C>G | CA508279165 | NTF4 | c.354G>C (p.Val118=) c.243+111G>C (n.243+111G>C) c.384G>C (p.Val128=) n.399G>C | |
| 19 | g.49061644C>T | CA508279166 | NTF4 | c.354G>A (p.Val118=) c.243+111G>A (n.243+111G>A) c.384G>A (p.Val128=) n.399G>A | |
| 19 | g.49061645A>C | CA406806402 | NTF4 | c.353T>G (p.Val118Gly) c.243+110T>G (n.243+110T>G) c.383T>G (p.Val128Gly) n.398T>G | |
| 19 | g.49061645A>G | CA406806405 | NTF4 | c.353T>C (p.Val118Ala) c.243+110T>C (n.243+110T>C) c.383T>C (p.Val128Ala) n.398T>C | |
| 19 | g.49061645A>T | CA406806407 | NTF4 | c.353T>A (p.Val118Glu) c.243+110T>A (n.243+110T>A) c.383T>A (p.Val128Glu) n.398T>A | |
| 19 | g.49061646C>A | CA406806415 | NTF4 | c.352G>T (p.Val118Leu) c.243+109G>T (n.243+109G>T) c.382G>T (p.Val128Leu) n.397G>T | |
| 19 | g.49061646C= | CA2340217367 | NTF4 | c.352G= (p.Val118=) c.243+109G= (n.243+109G=) c.382G= (p.Val128=) n.397G= | |
| 19 | g.49061646C>G | CA9565654 | NTF4 | c.352G>C (p.Val118Leu) c.243+109G>C (n.243+109G>C) c.382G>C (p.Val128Leu) n.397G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.49061646C>T | CA309446732 | NTF4 | c.352G>A (p.Val118Met) c.243+109G>A (n.243+109G>A) c.382G>A (p.Val128Met) n.397G>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.49061647C>A | CA406806417 | NTF4 | c.351G>T (p.Glu117Asp) c.243+108G>T (n.243+108G>T) c.381G>T (p.Glu127Asp) n.396G>T | |
| 19 | g.49061647C>G | CA406806419 | NTF4 | c.351G>C (p.Glu117Asp) c.243+108G>C (n.243+108G>C) c.381G>C (p.Glu127Asp) n.396G>C | |
| 19 | g.49061647C>T | CA508279170 | NTF4 | c.351G>A (p.Glu117=) c.243+108G>A (n.243+108G>A) c.381G>A (p.Glu127=) n.396G>A | |
| 19 | g.49061648T>A | CA406806425 | NTF4 | c.350A>T (p.Glu117Val) c.243+107A>T (n.243+107A>T) c.380A>T (p.Glu127Val) n.395A>T | |
| 19 | g.49061648T>C | CA406806427 | NTF4 | c.350A>G (p.Glu117Gly) c.243+107A>G (n.243+107A>G) c.380A>G (p.Glu127Gly) n.395A>G | |
| 19 | g.49061648T>G | CA406806430 | NTF4 | c.350A>C (p.Glu117Ala) c.243+107A>C (n.243+107A>C) c.380A>C (p.Glu127Ala) n.395A>C | |
| 19 | g.49061649C>A | CA406806437 | NTF4 | c.349G>T (p.Glu117Ter) c.243+106G>T (n.243+106G>T) c.379G>T (p.Glu127Ter) n.394G>T | |
| 19 | g.49061649C= | CA2340217368 | NTF4 | c.349G= (p.Glu117=) c.243+106G= (n.243+106G=) c.379G= (p.Glu127=) n.394G= | |
| 19 | g.49061649C>G | CA406806434 | NTF4 | c.349G>C (p.Glu117Gln) c.243+106G>C (n.243+106G>C) c.379G>C (p.Glu127Gln) n.394G>C | gnomAD v4 |
| 19 | g.49061649C>T | CA9565655 | NTF4 | c.349G>A (p.Glu117Lys) c.243+106G>A (n.243+106G>A) c.379G>A (p.Glu127Lys) n.394G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |