Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113149032C>A | CA388792367 | F10 | c.982C>A (p.Leu328Ile) c.972C>A (p.Gly324=) c.978C>A (p.Gly326=) c.850C>A (p.Leu284Ile) | |
13 | g.113149032C>G | CA388792370 | F10 | c.982C>G (p.Leu328Val) c.972C>G (p.Gly324=) c.978C>G (p.Gly326=) c.850C>G (p.Leu284Val) | |
13 | g.113149032C>T | CA388792366 | F10 | c.982C>T (p.Leu328Phe) c.972C>T (p.Gly324=) c.978C>T (p.Gly326=) c.850C>T (p.Leu284Phe) | |
13 | g.113149033T>A | CA388792373 | F10 | c.983T>A (p.Leu328His) c.973T>A (p.Ser325Thr) c.979T>A (p.Ser327Thr) c.851T>A (p.Leu284His) | |
13 | g.113149033T>C | CA388792375 | F10 | c.983T>C (p.Leu328Pro) c.973T>C (p.Ser325Pro) c.979T>C (p.Ser327Pro) c.851T>C (p.Leu284Pro) | |
13 | g.113149033T>G | CA388792377 | F10 | c.983T>G (p.Leu328Arg) c.973T>G (p.Ser325Ala) c.979T>G (p.Ser327Ala) c.851T>G (p.Leu284Arg) | |
13 | g.113149034C>A | CA388792383 | F10 | c.984C>A (p.Leu328=) c.974C>A (p.Ser325Ter) c.980C>A (p.Ser327Ter) c.852C>A (p.Leu284=) | |
13 | g.113149034C= | CA2120140026 | F10 | c.984C= (p.Leu328=) c.974C= (p.Ser325=) c.980C= (p.Ser327=) c.852C= (p.Leu284=) | |
13 | g.113149034C>G | CA388792385 | F10 | c.984C>G (p.Leu328=) c.974C>G (p.Ser325Ter) c.980C>G (p.Ser327Ter) c.852C>G (p.Leu284=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149034C>T | CA388792394 | F10 | c.984C>T (p.Leu328=) c.974C>T (p.Ser325Leu) c.980C>T (p.Ser327Leu) c.852C>T (p.Leu284=) | |
13 | g.113149036_113149044del | CA2623809556 | F10 | c.986_994del (p.Lys329_Pro331del) c.976_984del (p.Arg326_Pro328del) c.982_990del (p.Arg328_Pro330del) c.854_862del (p.Lys285_Pro287del) | gnomAD v4 |
13 | g.113149035A>C | CA388792398 | F10 | c.985A>C (p.Lys329Gln) c.975A>C (p.Ser325=) c.981A>C (p.Ser327=) c.853A>C (p.Lys285Gln) | |
13 | g.113149035A>G | CA388792400 | F10 | c.985A>G (p.Lys329Glu) c.975A>G (p.Ser325=) c.981A>G (p.Ser327=) c.853A>G (p.Lys285Glu) | |
13 | g.113149035A>T | CA388792403 | F10 | c.985A>T (p.Lys329Ter) c.975A>T (p.Ser325=) c.981A>T (p.Ser327=) c.853A>T (p.Lys285Ter) | |
13 | g.113149036A>C | CA388792406 | F10 | c.986A>C (p.Lys329Thr) c.976A>C (p.Arg326=) c.982A>C (p.Arg328=) c.854A>C (p.Lys285Thr) | |
13 | g.113149036A>G | CA388792408 | F10 | c.986A>G (p.Lys329Arg) c.976A>G (p.Arg326Gly) c.982A>G (p.Arg328Gly) c.854A>G (p.Lys285Arg) | |
13 | g.113149036A>T | CA388792411 | F10 | c.986A>T (p.Lys329Met) c.976A>T (p.Arg326Ter) c.982A>T (p.Arg328Ter) c.854A>T (p.Lys285Met) | |
13 | g.113149037G>A | CA388792418 | F10 | c.987G>A (p.Lys329=) c.977G>A (p.Arg326Lys) c.983G>A (p.Arg328Lys) c.855G>A (p.Lys285=) | |
13 | g.113149037G>C | CA388792413 | F10 | c.987G>C (p.Lys329Asn) c.977G>C (p.Arg326Thr) c.983G>C (p.Arg328Thr) c.855G>C (p.Lys285Asn) | |
13 | g.113149037G>T | CA388792416 | F10 | c.987G>T (p.Lys329Asn) c.977G>T (p.Arg326Ile) c.983G>T (p.Arg328Ile) c.855G>T (p.Lys285Asn) | |
13 | g.113149038A>C | CA388792420 | F10 | c.988A>C (p.Thr330Pro) c.978A>C (p.Arg326Ser) c.984A>C (p.Arg328Ser) c.856A>C (p.Thr286Pro) | |
13 | g.113149038A>G | CA388792422 | F10 | c.988A>G (p.Thr330Ala) c.978A>G (p.Arg326=) c.984A>G (p.Arg328=) c.856A>G (p.Thr286Ala) | |
13 | g.113149038A>T | CA388792424 | F10 | c.988A>T (p.Thr330Ser) c.978A>T (p.Arg326Ser) c.984A>T (p.Arg328Ser) c.856A>T (p.Thr286Ser) | |
13 | g.113149039C>A | CA388792426 | F10 | c.989C>A (p.Thr330Asn) c.979C>A (p.Pro327Thr) c.985C>A (p.Pro329Thr) c.857C>A (p.Thr286Asn) | |
13 | g.113149039C= | CA2120140029 | F10 | c.989C= (p.Thr330=) c.979C= (p.Pro327=) c.985C= (p.Pro329=) c.857C= (p.Thr286=) | |
13 | g.113149039C>G | CA388792428 | F10 | c.989C>G (p.Thr330Ser) c.979C>G (p.Pro327Ala) c.985C>G (p.Pro329Ala) c.857C>G (p.Thr286Ser) | |
13 | g.113149039C>T | CA7060658 | F10 | c.989C>T (p.Thr330Ile) c.979C>T (p.Pro327Ser) c.985C>T (p.Pro329Ser) c.857C>T (p.Thr286Ile) | dbSNP ExAC gnomAD v2 |
13 | g.113149040C>A | CA388792433 | F10 | c.990C>A (p.Thr330=) c.980C>A (p.Pro327His) c.986C>A (p.Pro329His) c.858C>A (p.Thr286=) | COSMIC |
13 | g.113149040C= | CA2120140032 | F10 | c.990C= (p.Thr330=) c.980C= (p.Pro327=) c.986C= (p.Pro329=) c.858C= (p.Thr286=) | |
13 | g.113149040C>G | CA388792436 | F10 | c.990C>G (p.Thr330=) c.980C>G (p.Pro327Arg) c.986C>G (p.Pro329Arg) c.858C>G (p.Thr286=) | |
13 | g.113149040C>T | CA388792439 | F10 | c.990C>T (p.Thr330=) c.980C>T (p.Pro327Leu) c.986C>T (p.Pro329Leu) c.858C>T (p.Thr286=) | dbSNP gnomAD v4 |
13 | g.113149041C>A | CA388792443 | F10 | c.991C>A (p.Pro331Thr) c.981C>A (p.Pro327=) c.987C>A (p.Pro329=) c.859C>A (p.Pro287Thr) | |
13 | g.113149041C= | CA2120140036 | F10 | c.991C= (p.Pro331=) c.981C= (p.Pro327=) c.987C= (p.Pro329=) c.859C= (p.Pro287=) | |
13 | g.113149041C>G | CA388792446 | F10 | c.991C>G (p.Pro331Ala) c.981C>G (p.Pro327=) c.987C>G (p.Pro329=) c.859C>G (p.Pro287Ala) | |
13 | g.113149041C>T | CA388792448 | F10 | c.991C>T (p.Pro331Ser) c.981C>T (p.Pro327=) c.987C>T (p.Pro329=) c.859C>T (p.Pro287Ser) | |
13 | g.113149042C>A | CA388792452 | F10 | c.992C>A (p.Pro331His) c.982C>A (p.Pro328Thr) c.988C>A (p.Pro330Thr) c.860C>A (p.Pro287His) | |
13 | g.113149042C>G | CA388792455 | F10 | c.992C>G (p.Pro331Arg) c.982C>G (p.Pro328Ala) c.988C>G (p.Pro330Ala) c.860C>G (p.Pro287Arg) | |
13 | g.113149042C>T | CA388792450 | F10 | c.992C>T (p.Pro331Leu) c.982C>T (p.Pro328Ser) c.988C>T (p.Pro330Ser) c.860C>T (p.Pro287Leu) | ClinVar dbSNP |
13 | g.113149043_113149046dup | CA2120140038 | F10 | c.993_996dup (p.Thr333HisfsTer16) c.983_986dup (p.Pro330IlefsTer?) c.989_992dup (p.Pro332IlefsTer?) c.861_864dup (p.Thr289HisfsTer16) | dbSNP |
13 | g.113149043C>A | CA388792460 | F10 | c.993C>A (p.Pro331=) c.983C>A (p.Pro328Gln) c.989C>A (p.Pro330Gln) c.861C>A (p.Pro287=) | |
13 | g.113149043C= | CA2120140039 | F10 | c.993C= (p.Pro331=) c.983C= (p.Pro328=) c.989C= (p.Pro330=) c.861C= (p.Pro287=) | |
13 | g.113149043C>G | CA388792457 | F10 | c.993C>G (p.Pro331=) c.983C>G (p.Pro328Arg) c.989C>G (p.Pro330Arg) c.861C>G (p.Pro287=) | |
13 | g.113149043C>T | CA7060659 | F10 | c.993C>T (p.Pro331=) c.983C>T (p.Pro328Leu) c.989C>T (p.Pro330Leu) c.861C>T (p.Pro287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149044A= | CA2120140041 | F10 | c.994A= (p.Ile332=) c.984A= (p.Pro328=) c.990A= (p.Pro330=) c.862A= (p.Ile288=) | |
13 | g.113149044A>C | CA388792466 | F10 | c.994A>C (p.Ile332Leu) c.984A>C (p.Pro328=) c.990A>C (p.Pro330=) c.862A>C (p.Ile288Leu) | |
13 | g.113149044A>G | CA388792469 | F10 | c.994A>G (p.Ile332Val) c.984A>G (p.Pro328=) c.990A>G (p.Pro330=) c.862A>G (p.Ile288Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149044A>T | CA388792471 | F10 | c.994A>T (p.Ile332Phe) c.984A>T (p.Pro328=) c.990A>T (p.Pro330=) c.862A>T (p.Ile288Phe) | |
13 | g.113149045T>A | CA388792472 | F10 | c.995T>A (p.Ile332Asn) c.985T>A (p.Ser329Thr) c.991T>A (p.Ser331Thr) c.863T>A (p.Ile288Asn) | |
13 | g.113149045T>C | CA388792477 | F10 | c.995T>C (p.Ile332Thr) c.985T>C (p.Ser329Pro) c.991T>C (p.Ser331Pro) c.863T>C (p.Ile288Thr) | |
13 | g.113149045T>G | CA388792480 | F10 | c.995T>G (p.Ile332Ser) c.985T>G (p.Ser329Ala) c.991T>G (p.Ser331Ala) c.863T>G (p.Ile288Ser) | |
13 | g.113149046C>A | CA388792481 | F10 | c.996C>A (p.Ile332=) c.986C>A (p.Ser329Ter) c.992C>A (p.Ser331Ter) c.864C>A (p.Ile288=) | |
13 | g.113149046C>G | CA388792483 | F10 | c.996C>G (p.Ile332Met) c.986C>G (p.Ser329Ter) c.992C>G (p.Ser331Ter) c.864C>G (p.Ile288Met) | |
13 | g.113149046C>T | CA388792485 | F10 | c.996C>T (p.Ile332=) c.986C>T (p.Ser329Leu) c.992C>T (p.Ser331Leu) c.864C>T (p.Ile288=) | |
13 | g.113149047A>C | CA388792487 | F10 | c.997A>C (p.Thr333Pro) c.987A>C (p.Ser329=) c.993A>C (p.Ser331=) c.865A>C (p.Thr289Pro) | |
13 | g.113149047A>G | CA388792490 | F10 | c.997A>G (p.Thr333Ala) c.987A>G (p.Ser329=) c.993A>G (p.Ser331=) c.865A>G (p.Thr289Ala) | |
13 | g.113149047A>T | CA388792491 | F10 | c.997A>T (p.Thr333Ser) c.987A>T (p.Ser329=) c.993A>T (p.Ser331=) c.865A>T (p.Thr289Ser) | |
13 | g.113149048C>A | CA388792498 | F10 | c.998C>A (p.Thr333Asn) c.988C>A (p.Pro330Thr) c.994C>A (p.Pro332Thr) c.866C>A (p.Thr289Asn) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149048C= | CA2120140043 | F10 | c.998C= (p.Thr333=) c.988C= (p.Pro330=) c.994C= (p.Pro332=) c.866C= (p.Thr289=) | |
13 | g.113149048C>G | CA388792495 | F10 | c.998C>G (p.Thr333Ser) c.988C>G (p.Pro330Ala) c.994C>G (p.Pro332Ala) c.866C>G (p.Thr289Ser) | |
13 | g.113149048C>T | CA388792494 | F10 | c.998C>T (p.Thr333Ile) c.988C>T (p.Pro330Ser) c.994C>T (p.Pro332Ser) c.866C>T (p.Thr289Ile) | |
13 | g.113149049C>A | CA388792502 | F10 | c.999C>A (p.Thr333=) c.989C>A (p.Pro330His) c.995C>A (p.Pro332His) c.867C>A (p.Thr289=) | |
13 | g.113149049C>G | CA388792503 | F10 | c.999C>G (p.Thr333=) c.989C>G (p.Pro330Arg) c.995C>G (p.Pro332Arg) c.867C>G (p.Thr289=) | |
13 | g.113149049C>T | CA388792507 | F10 | c.999C>T (p.Thr333=) c.989C>T (p.Pro330Leu) c.995C>T (p.Pro332Leu) c.867C>T (p.Thr289=) | gnomAD v4 |
13 | g.113149050T>A | CA388792509 | F10 | c.1000T>A (p.Phe334Ile) c.990T>A (p.Pro330=) c.996T>A (p.Pro332=) c.868T>A (p.Phe290Ile) | gnomAD v4 |
13 | g.113149050T>C | CA388792511 | F10 | c.1000T>C (p.Phe334Leu) c.990T>C (p.Pro330=) c.996T>C (p.Pro332=) c.868T>C (p.Phe290Leu) | |
13 | g.113149050T>G | CA388792513 | F10 | c.1000T>G (p.Phe334Val) c.990T>G (p.Pro330=) c.996T>G (p.Pro332=) c.868T>G (p.Phe290Val) | |
13 | g.113149051T>A | CA388792516 | F10 | c.1001T>A (p.Phe334Tyr) c.991T>A (p.Ser331Thr) c.997T>A (p.Ser333Thr) c.869T>A (p.Phe290Tyr) | |
13 | g.113149051T>C | CA388792518 | F10 | c.1001T>C (p.Phe334Ser) c.991T>C (p.Ser331Pro) c.997T>C (p.Ser333Pro) c.869T>C (p.Phe290Ser) | |
13 | g.113149051T>G | CA388792520 | F10 | c.1001T>G (p.Phe334Cys) c.991T>G (p.Ser331Ala) c.997T>G (p.Ser333Ala) c.869T>G (p.Phe290Cys) | |
13 | g.113149052C>A | CA388792521 | F10 | c.1002C>A (p.Phe334Leu) c.992C>A (p.Ser331Tyr) c.998C>A (p.Ser333Tyr) c.870C>A (p.Phe290Leu) | |
13 | g.113149052C>G | CA388792523 | F10 | c.1002C>G (p.Phe334Leu) c.992C>G (p.Ser331Cys) c.998C>G (p.Ser333Cys) c.870C>G (p.Phe290Leu) | gnomAD v4 |
13 | g.113149052C>T | CA388792526 | F10 | c.1002C>T (p.Phe334=) c.992C>T (p.Ser331Phe) c.998C>T (p.Ser333Phe) c.870C>T (p.Phe290=) | |
13 | g.113149053C>A | CA388792532 | F10 | c.1003C>A (p.Arg335Ser) c.993C>A (p.Ser331=) c.999C>A (p.Ser333=) c.871C>A (p.Arg291Ser) | |
13 | g.113149053C= | CA2120140045 | F10 | c.1003C= (p.Arg335=) c.993C= (p.Ser331=) c.999C= (p.Ser333=) c.871C= (p.Arg291=) | |
13 | g.113149053C>G | CA388792530 | F10 | c.1003C>G (p.Arg335Gly) c.993C>G (p.Ser331=) c.999C>G (p.Ser333=) c.871C>G (p.Arg291Gly) | |
13 | g.113149053C>T | CA7060660 | F10 | c.1003C>T (p.Arg335Cys) c.993C>T (p.Ser331=) c.999C>T (p.Ser333=) c.871C>T (p.Arg291Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149054G>A | CA7060661 | F10 | c.1004G>A (p.Arg335His) c.994G>A (p.Ala332Thr) c.1000G>A (p.Ala334Thr) c.872G>A (p.Arg291His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149054G>C | CA388792537 | F10 | c.1004G>C (p.Arg335Pro) c.994G>C (p.Ala332Pro) c.1000G>C (p.Ala334Pro) c.872G>C (p.Arg291Pro) | COSMIC |
13 | g.113149054G= | CA2120140055 | F10 | c.1004G= (p.Arg335=) c.994G= (p.Ala332=) c.1000G= (p.Ala334=) c.872G= (p.Arg291=) | |
13 | g.113149054G>T | CA388792539 | F10 | c.1004G>T (p.Arg335Leu) c.994G>T (p.Ala332Ser) c.1000G>T (p.Ala334Ser) c.872G>T (p.Arg291Leu) | gnomAD v4 |
13 | g.113149055del | CA2623809558 | F10 | c.1005del (p.Met336Ter) c.995del (p.Ala332AspfsTer12) c.1001del (p.Ala334AspfsTer12) c.873del (p.Met292Ter) | gnomAD v4 |
13 | g.113149055C>A | CA388792542 | F10 | c.1005C>A (p.Arg335=) c.995C>A (p.Ala332Glu) c.1001C>A (p.Ala334Glu) c.873C>A (p.Arg291=) | |
13 | g.113149055C>G | CA388792543 | F10 | c.1005C>G (p.Arg335=) c.995C>G (p.Ala332Gly) c.1001C>G (p.Ala334Gly) c.873C>G (p.Arg291=) | |
13 | g.113149055C>T | CA388792545 | F10 | c.1005C>T (p.Arg335=) c.995C>T (p.Ala332Val) c.1001C>T (p.Ala334Val) c.873C>T (p.Arg291=) | |
13 | g.113149056A= | CA2120140061 | F10 | c.1006A= (p.Met336=) c.996A= (p.Ala332=) c.1002A= (p.Ala334=) c.874A= (p.Met292=) | |
13 | g.113149056A>C | CA388792548 | F10 | c.1006A>C (p.Met336Leu) c.996A>C (p.Ala332=) c.1002A>C (p.Ala334=) c.874A>C (p.Met292Leu) | |
13 | g.113149056A>G | CA256478663 | F10 | c.1006A>G (p.Met336Val) c.996A>G (p.Ala332=) c.1002A>G (p.Ala334=) c.874A>G (p.Met292Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149056A>T | CA388792551 | F10 | c.1006A>T (p.Met336Leu) c.996A>T (p.Ala332=) c.1002A>T (p.Ala334=) c.874A>T (p.Met292Leu) | |
13 | g.113149057T>A | CA388792554 | F10 | c.1007T>A (p.Met336Lys) c.997T>A (p.Ter333Arg) c.1003T>A (p.Ter335Arg) c.875T>A (p.Met292Lys) | |
13 | g.113149057T>C | CA388792556 | F10 | c.1007T>C (p.Met336Thr) c.997T>C (p.Ter333Arg) c.1003T>C (p.Ter335Arg) c.875T>C (p.Met292Thr) | |
13 | g.113149057T>G | CA388792558 | F10 | c.1007T>G (p.Met336Arg) c.997T>G (p.Ter333Gly) c.1003T>G (p.Ter335Gly) c.875T>G (p.Met292Arg) | |
13 | g.113149058G>A | CA388792566 | F10 | c.1008G>A (p.Met336Ile) c.998G>A (p.Ter333=) c.1004G>A (p.Ter335=) c.876G>A (p.Met292Ile) | COSMIC |
13 | g.113149058G>C | CA388792563 | F10 | c.1008G>C (p.Met336Ile) c.998G>C (p.Ter333Ser) c.1004G>C (p.Ter335Ser) c.876G>C (p.Met292Ile) | |
13 | g.113149058G>T | CA388792560 | F10 | c.1008G>T (p.Met336Ile) c.998G>T (p.Ter333Leu) c.1004G>T (p.Ter335Leu) c.876G>T (p.Met292Ile) | |
13 | g.113149059A>C | CA388792569 | F10 | c.1009A>C (p.Asn337His) c.999A>C (p.Ter333Cys) c.1005A>C (p.Ter335Cys) c.877A>C (p.Asn293His) | |
13 | g.113149059A>G | CA388792572 | F10 | c.1009A>G (p.Asn337Asp) c.999A>G (p.Ter333Trp) c.1005A>G (p.Ter335Trp) c.877A>G (p.Asn293Asp) | |
13 | g.113149059A>T | CA388792574 | F10 | c.1009A>T (p.Asn337Tyr) c.999A>T (p.Ter333Cys) c.1005A>T (p.Ter335Cys) c.877A>T (p.Asn293Tyr) | |
13 | g.113149060A>C | CA388792577 | F10 | c.1010A>C (p.Asn337Thr) c.*1A>C (n.*1A>C) c.878A>C (p.Asn293Thr) | |
13 | g.113149060A>G | CA388792578 | F10 | c.1010A>G (p.Asn337Ser) c.*1A>G (n.*1A>G) c.878A>G (p.Asn293Ser) | |
13 | g.113149060A>T | CA388792581 | F10 | c.1010A>T (p.Asn337Ile) c.*1A>T (n.*1A>T) c.878A>T (p.Asn293Ile) | |
13 | g.113149061C>A | CA256478665 | F10 | c.1011C>A (p.Asn337Lys) c.*2C>A (n.*2C>A) c.879C>A (p.Asn293Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149061C= | CA2120140069 | F10 | c.1011C= (p.Asn337=) c.*2C= (n.*2C=) c.879C= (p.Asn293=) | |
13 | g.113149061C>G | CA388792585 | F10 | c.1011C>G (p.Asn337Lys) c.*2C>G (n.*2C>G) c.879C>G (p.Asn293Lys) | |
13 | g.113149061C>T | CA7060662 | F10 | c.1011C>T (p.Asn337=) c.*2C>T (n.*2C>T) c.879C>T (p.Asn293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149062G>A | CA256478666 | F10 | c.1012G>A (p.Val338Met) c.*3G>A (n.*3G>A) c.880G>A (p.Val294Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149062G>C | CA388792588 | F10 | c.1012G>C (p.Val338Leu) c.*3G>C (n.*3G>C) c.880G>C (p.Val294Leu) | |
13 | g.113149062G= | CA2120140078 | F10 | c.1012G= (p.Val338=) c.*3G= (n.*3G=) c.880G= (p.Val294=) | |
13 | g.113149062G>T | CA388792591 | F10 | c.1012G>T (p.Val338Leu) c.*3G>T (n.*3G>T) c.880G>T (p.Val294Leu) | gnomAD v4 |
13 | g.113149063T>A | CA388792599 | F10 | c.1013T>A (p.Val338Glu) c.*4T>A (n.*4T>A) c.881T>A (p.Val294Glu) | |
13 | g.113149063T>C | CA388792597 | F10 | c.1013T>C (p.Val338Ala) c.*4T>C (n.*4T>C) c.881T>C (p.Val294Ala) | |
13 | g.113149063T>G | CA388792595 | F10 | c.1013T>G (p.Val338Gly) c.*4T>G (n.*4T>G) c.881T>G (p.Val294Gly) | |
13 | g.113149064G>A | CA485424051 | F10 | c.1014G>A (p.Val338=) c.*5G>A (n.*5G>A) c.882G>A (p.Val294=) | |
13 | g.113149064G>C | CA7060663 | F10 | c.1014G>C (p.Val338=) c.*5G>C (n.*5G>C) c.882G>C (p.Val294=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149064G= | CA2120140081 | F10 | c.1014G= (p.Val338=) c.*5G= (n.*5G=) c.882G= (p.Val294=) | |
13 | g.113149064G>T | CA485424052 | F10 | c.1014G>T (p.Val338=) c.*5G>T (n.*5G>T) c.882G>T (p.Val294=) | |
13 | g.113149065G>A | CA388792608 | F10 | c.1015G>A (p.Ala339Thr) c.*6G>A (n.*6G>A) c.883G>A (p.Ala295Thr) | |
13 | g.113149065G>C | CA388792603 | F10 | c.1015G>C (p.Ala339Pro) c.*6G>C (n.*6G>C) c.883G>C (p.Ala295Pro) | |
13 | g.113149065G>T | CA388792605 | F10 | c.1015G>T (p.Ala339Ser) c.*6G>T (n.*6G>T) c.883G>T (p.Ala295Ser) | |
13 | g.113149066C>A | CA388792612 | F10 | c.1016C>A (p.Ala339Glu) c.*7C>A (n.*7C>A) c.884C>A (p.Ala295Glu) | |
13 | g.113149066C= | CA2120140083 | F10 | c.1016C= (p.Ala339=) c.*7C= (n.*7C=) c.884C= (p.Ala295=) | |
13 | g.113149066C>G | CA388792614 | F10 | c.1016C>G (p.Ala339Gly) c.*7C>G (n.*7C>G) c.884C>G (p.Ala295Gly) | |
13 | g.113149066C>T | CA7060664 | F10 | c.1016C>T (p.Ala339Val) c.*7C>T (n.*7C>T) c.884C>T (p.Ala295Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149067G>A | CA7060665 | F10 | c.1017G>A (p.Ala339=) c.*8G>A (n.*8G>A) c.885G>A (p.Ala295=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149067G>C | CA485424053 | F10 | c.1017G>C (p.Ala339=) c.*8G>C (n.*8G>C) c.885G>C (p.Ala295=) | |
13 | g.113149067G= | CA2120140086 | F10 | c.1017G= (p.Ala339=) c.*8G= (n.*8G=) c.885G= (p.Ala295=) | |
13 | g.113149067G>T | CA485424054 | F10 | c.1017G>T (p.Ala339=) c.*8G>T (n.*8G>T) c.885G>T (p.Ala295=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149075_113149078dup | CA2623809560 | F10 | c.1025_1028dup (p.Glu345ProfsTer4) c.*16_*19dup (n.*16_*19dup) c.893_896dup (p.Glu301ProfsTer4) | gnomAD v4 |
13 | g.113149068C>A | CA388792621 | F10 | c.1018C>A (p.Pro340Thr) c.*9C>A (n.*9C>A) c.886C>A (p.Pro296Thr) | |
13 | g.113149068C= | CA2120140089 | F10 | c.1018C= (p.Pro340=) c.*9C= (n.*9C=) c.886C= (p.Pro296=) | |
13 | g.113149068C>G | CA256478670 | F10 | c.1018C>G (p.Pro340Ala) c.*9C>G (n.*9C>G) c.886C>G (p.Pro296Ala) | dbSNP gnomAD v4 |
13 | g.113149068C>T | CA7060666 | F10 | c.1018C>T (p.Pro340Ser) c.*9C>T (n.*9C>T) c.886C>T (p.Pro296Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149069C>A | CA388792626 | F10 | c.1019C>A (p.Pro340His) c.*10C>A (n.*10C>A) c.887C>A (p.Pro296His) | |
13 | g.113149069C>G | CA388792629 | F10 | c.1019C>G (p.Pro340Arg) c.*10C>G (n.*10C>G) c.887C>G (p.Pro296Arg) | |
13 | g.113149069C>T | CA388792631 | F10 | c.1019C>T (p.Pro340Leu) c.*10C>T (n.*10C>T) c.887C>T (p.Pro296Leu) | gnomAD v4 |
13 | g.113149070T>A | CA485424055 | F10 | c.1020T>A (p.Pro340=) c.*11T>A (n.*11T>A) c.888T>A (p.Pro296=) | |
13 | g.113149070T>C | CA485424056 | F10 | c.1020T>C (p.Pro340=) c.*11T>C (n.*11T>C) c.888T>C (p.Pro296=) | dbSNP |
13 | g.113149070T>G | CA485424057 | F10 | c.1020T>G (p.Pro340=) c.*11T>G (n.*11T>G) c.888T>G (p.Pro296=) | |
13 | g.113149071G>A | CA256478672 | F10 | c.1021G>A (p.Ala341Thr) c.*12G>A (n.*12G>A) c.889G>A (p.Ala297Thr) | dbSNP |
13 | g.113149071G>C | CA388792633 | F10 | c.1021G>C (p.Ala341Pro) c.*12G>C (n.*12G>C) c.889G>C (p.Ala297Pro) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149071G= | CA2120140092 | F10 | c.1021G= (p.Ala341=) c.*12G= (n.*12G=) c.889G= (p.Ala297=) | |
13 | g.113149071G>T | CA388792634 | F10 | c.1021G>T (p.Ala341Ser) c.*12G>T (n.*12G>T) c.889G>T (p.Ala297Ser) | |
13 | g.113149072C>A | CA388792637 | F10 | c.1022C>A (p.Ala341Asp) c.*13C>A (n.*13C>A) c.890C>A (p.Ala297Asp) | |
13 | g.113149072C>G | CA388792639 | F10 | c.1022C>G (p.Ala341Gly) c.*13C>G (n.*13C>G) c.890C>G (p.Ala297Gly) | |
13 | g.113149072C>T | CA388792641 | F10 | c.1022C>T (p.Ala341Val) c.*13C>T (n.*13C>T) c.890C>T (p.Ala297Val) | |
13 | g.113149073C>A | CA485424058 | F10 | c.1023C>A (p.Ala341=) c.*14C>A (n.*14C>A) c.891C>A (p.Ala297=) | |
13 | g.113149073C>G | CA485424059 | F10 | c.1023C>G (p.Ala341=) c.*14C>G (n.*14C>G) c.891C>G (p.Ala297=) | |
13 | g.113149073C>T | CA485424060 | F10 | c.1023C>T (p.Ala341=) c.*14C>T (n.*14C>T) c.891C>T (p.Ala297=) | |
13 | g.113149074T>A | CA388792642 | F10 | c.1024T>A (p.Cys342Ser) c.*15T>A (n.*15T>A) c.892T>A (p.Cys298Ser) | |
13 | g.113149074T>C | CA388792644 | F10 | c.1024T>C (p.Cys342Arg) c.*15T>C (n.*15T>C) c.892T>C (p.Cys298Arg) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149074T>G | CA388792647 | F10 | c.1024T>G (p.Cys342Gly) c.*15T>G (n.*15T>G) c.892T>G (p.Cys298Gly) | |
13 | g.113149074T= | CA2120140095 | F10 | c.1024T= (p.Cys342=) c.*15T= (n.*15T=) c.892T= (p.Cys298=) | |
13 | g.113149075G>A | CA388792650 | F10 | c.1025G>A (p.Cys342Tyr) c.*16G>A (n.*16G>A) c.893G>A (p.Cys298Tyr) | |
13 | g.113149075G>C | CA388792653 | F10 | c.1025G>C (p.Cys342Ser) c.*16G>C (n.*16G>C) c.893G>C (p.Cys298Ser) | |
13 | g.113149075G>T | CA388792655 | F10 | c.1025G>T (p.Cys342Phe) c.*16G>T (n.*16G>T) c.893G>T (p.Cys298Phe) | |
13 | g.113149076C>A | CA388792657 | F10 | c.1026C>A (p.Cys342Ter) c.*17C>A (n.*17C>A) c.894C>A (p.Cys298Ter) | |
13 | g.113149076C>G | CA388792660 | F10 | c.1026C>G (p.Cys342Trp) c.*17C>G (n.*17C>G) c.894C>G (p.Cys298Trp) | |
13 | g.113149076C>T | CA485424061 | F10 | c.1026C>T (p.Cys342=) c.*17C>T (n.*17C>T) c.894C>T (p.Cys298=) | |
13 | g.113149077C>A | CA388792665 | F10 | c.1027C>A (p.Leu343Ile) c.*18C>A (n.*18C>A) c.895C>A (p.Leu299Ile) | gnomAD v4 |
13 | g.113149077C>G | CA388792668 | F10 | c.1027C>G (p.Leu343Val) c.*18C>G (n.*18C>G) c.895C>G (p.Leu299Val) | |
13 | g.113149077C>T | CA388792663 | F10 | c.1027C>T (p.Leu343Phe) c.*18C>T (n.*18C>T) c.895C>T (p.Leu299Phe) | |
13 | g.113149078T>A | CA388792669 | F10 | c.1028T>A (p.Leu343His) c.*19T>A (n.*19T>A) c.896T>A (p.Leu299His) | |
13 | g.113149078T>C | CA388792671 | F10 | c.1028T>C (p.Leu343Pro) c.*19T>C (n.*19T>C) c.896T>C (p.Leu299Pro) | COSMIC |
13 | g.113149078T>G | CA388792673 | F10 | c.1028T>G (p.Leu343Arg) c.*19T>G (n.*19T>G) c.896T>G (p.Leu299Arg) | |
13 | g.113149079C>A | CA485424062 | F10 | c.1029C>A (p.Leu343=) c.*20C>A (n.*20C>A) c.897C>A (p.Leu299=) | |
13 | g.113149079C>G | CA485424063 | F10 | c.1029C>G (p.Leu343=) c.*20C>G (n.*20C>G) c.897C>G (p.Leu299=) | |
13 | g.113149079C>T | CA485424064 | F10 | c.1029C>T (p.Leu343=) c.*20C>T (n.*20C>T) c.897C>T (p.Leu299=) | |
13 | g.113149080C>A | CA388792675 | F10 | c.1030C>A (p.Pro344Thr) c.*21C>A (n.*21C>A) c.898C>A (p.Pro300Thr) | |
13 | g.113149080C>G | CA388792677 | F10 | c.1030C>G (p.Pro344Ala) c.*21C>G (n.*21C>G) c.898C>G (p.Pro300Ala) | |
13 | g.113149080C>T | CA388792679 | F10 | c.1030C>T (p.Pro344Ser) c.*21C>T (n.*21C>T) c.898C>T (p.Pro300Ser) | |
13 | g.113149081C>A | CA388792681 | F10 | c.1031C>A (p.Pro344His) c.*22C>A (n.*22C>A) c.899C>A (p.Pro300His) | COSMIC |
13 | g.113149081C>G | CA388792684 | F10 | c.1031C>G (p.Pro344Arg) c.*22C>G (n.*22C>G) c.899C>G (p.Pro300Arg) | gnomAD v4 |
13 | g.113149081C>T | CA388792686 | F10 | c.1031C>T (p.Pro344Leu) c.*22C>T (n.*22C>T) c.899C>T (p.Pro300Leu) | |
13 | g.113149082C>A | CA485424065 | F10 | c.1032C>A (p.Pro344=) c.*23C>A (n.*23C>A) c.900C>A (p.Pro300=) | COSMIC |
13 | g.113149082C= | CA2120140126 | F10 | c.1032C= (p.Pro344=) c.*23C= (n.*23C=) c.900C= (p.Pro300=) | |
13 | g.113149082C>G | CA485424066 | F10 | c.1032C>G (p.Pro344=) c.*23C>G (n.*23C>G) c.900C>G (p.Pro300=) | gnomAD v4 |
13 | g.113149082C>T | CA7060667 | F10 | c.1032C>T (p.Pro344=) c.*23C>T (n.*23C>T) c.900C>T (p.Pro300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149083G>A | CA7060668 | F10 | c.1033G>A (p.Glu345Lys) c.*24G>A (n.*24G>A) c.901G>A (p.Glu301Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149083G>C | CA388792692 | F10 | c.1033G>C (p.Glu345Gln) c.*24G>C (n.*24G>C) c.901G>C (p.Glu301Gln) | gnomAD v4 |
13 | g.113149083G= | CA2120140133 | F10 | c.1033G= (p.Glu345=) c.*24G= (n.*24G=) c.901G= (p.Glu301=) | |
13 | g.113149083G>T | CA388792694 | F10 | c.1033G>T (p.Glu345Ter) c.*24G>T (n.*24G>T) c.901G>T (p.Glu301Ter) | |
13 | g.113149084A>C | CA388792702 | F10 | c.1034A>C (p.Glu345Ala) c.*25A>C (n.*25A>C) c.902A>C (p.Glu301Ala) | |
13 | g.113149084A>G | CA388792700 | F10 | c.1034A>G (p.Glu345Gly) c.*25A>G (n.*25A>G) c.902A>G (p.Glu301Gly) | |
13 | g.113149084A>T | CA388792697 | F10 | c.1034A>T (p.Glu345Val) c.*25A>T (n.*25A>T) c.902A>T (p.Glu301Val) | |
13 | g.113149085G>A | CA7060669 | F10 | c.1035G>A (p.Glu345=) c.*26G>A (n.*26G>A) c.903G>A (p.Glu301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149085G>C | CA388792706 | F10 | c.1035G>C (p.Glu345Asp) c.*26G>C (n.*26G>C) c.903G>C (p.Glu301Asp) | |
13 | g.113149085G= | CA2120140137 | F10 | c.1035G= (p.Glu345=) c.*26G= (n.*26G=) c.903G= (p.Glu301=) | |
13 | g.113149085G>T | CA388792707 | F10 | c.1035G>T (p.Glu345Asp) c.*26G>T (n.*26G>T) c.903G>T (p.Glu301Asp) | |
13 | g.113149086C>A | CA388792709 | F10 | c.1036C>A (p.Arg346Ser) c.*27C>A (n.*27C>A) c.904C>A (p.Arg302Ser) | gnomAD v4 |
13 | g.113149086C= | CA2120140139 | F10 | c.1036C= (p.Arg346=) c.*27C= (n.*27C=) c.904C= (p.Arg302=) | |
13 | g.113149086C>G | CA388792710 | F10 | c.1036C>G (p.Arg346Gly) c.*27C>G (n.*27C>G) c.904C>G (p.Arg302Gly) | |
13 | g.113149086C>T | CA7060670 | F10 | c.1036C>T (p.Arg346Cys) c.*27C>T (n.*27C>T) c.904C>T (p.Arg302Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149087G>A | CA7060671 | F10 | c.1037G>A (p.Arg346His) c.*28G>A (n.*28G>A) c.905G>A (p.Arg302His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149087G>C | CA388792718 | F10 | c.1037G>C (p.Arg346Pro) c.*28G>C (n.*28G>C) c.905G>C (p.Arg302Pro) | |
13 | g.113149087G= | CA2120140142 | F10 | c.1037G= (p.Arg346=) c.*28G= (n.*28G=) c.905G= (p.Arg302=) | |
13 | g.113149087G>T | CA388792720 | F10 | c.1037G>T (p.Arg346Leu) c.*28G>T (n.*28G>T) c.905G>T (p.Arg302Leu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149088T>A | CA485424067 | F10 | c.1038T>A (p.Arg346=) c.*29T>A (n.*29T>A) c.906T>A (p.Arg302=) | |
13 | g.113149088T>C | CA485424068 | F10 | c.1038T>C (p.Arg346=) c.*29T>C (n.*29T>C) c.906T>C (p.Arg302=) | |
13 | g.113149088T>G | CA7060672 | F10 | c.1038T>G (p.Arg346=) c.*29T>G (n.*29T>G) c.906T>G (p.Arg302=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149088T= | CA2120140146 | F10 | c.1038T= (p.Arg346=) c.*29T= (n.*29T=) c.906T= (p.Arg302=) | |
13 | g.113149089G>A | CA388792723 | F10 | c.1039G>A (p.Asp347Asn) c.*30G>A (n.*30G>A) c.907G>A (p.Asp303Asn) | gnomAD v4 |
13 | g.113149089G>C | CA388792725 | F10 | c.1039G>C (p.Asp347His) c.*30G>C (n.*30G>C) c.907G>C (p.Asp303His) | |
13 | g.113149089G>T | CA388792728 | F10 | c.1039G>T (p.Asp347Tyr) c.*30G>T (n.*30G>T) c.907G>T (p.Asp303Tyr) | |
13 | g.113149090A>C | CA388792733 | F10 | c.1040A>C (p.Asp347Ala) c.*31A>C (n.*31A>C) c.908A>C (p.Asp303Ala) | |
13 | g.113149090A>G | CA388792734 | F10 | c.1040A>G (p.Asp347Gly) c.*31A>G (n.*31A>G) c.908A>G (p.Asp303Gly) | gnomAD v4 |
13 | g.113149090A>T | CA388792731 | F10 | c.1040A>T (p.Asp347Val) c.*31A>T (n.*31A>T) c.908A>T (p.Asp303Val) | |
13 | g.113149091C>A | CA388792735 | F10 | c.1041C>A (p.Asp347Glu) c.*32C>A (n.*32C>A) c.909C>A (p.Asp303Glu) | |
13 | g.113149091C= | CA2120140149 | F10 | c.1041C= (p.Asp347=) c.*32C= (n.*32C=) c.909C= (p.Asp303=) | |
13 | g.113149091C>G | CA388792737 | F10 | c.1041C>G (p.Asp347Glu) c.*32C>G (n.*32C>G) c.909C>G (p.Asp303Glu) | |
13 | g.113149091C>T | CA485424069 | F10 | c.1041C>T (p.Asp347=) c.*32C>T (n.*32C>T) c.909C>T (p.Asp303=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149092T>A | CA388792738 | F10 | c.1042T>A (p.Trp348Arg) c.*33T>A (n.*33T>A) c.910T>A (p.Trp304Arg) | |
13 | g.113149092T>C | CA7060673 | F10 | c.1042T>C (p.Trp348Arg) c.*33T>C (n.*33T>C) c.910T>C (p.Trp304Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149092T>G | CA388792742 | F10 | c.1042T>G (p.Trp348Gly) c.*33T>G (n.*33T>G) c.910T>G (p.Trp304Gly) | |
13 | g.113149092T= | CA2120140151 | F10 | c.1042T= (p.Trp348=) c.*33T= (n.*33T=) c.910T= (p.Trp304=) | |
13 | g.113149093G>A | CA388792748 | F10 | c.1043G>A (p.Trp348Ter) c.*34G>A (n.*34G>A) c.911G>A (p.Trp304Ter) | ClinVar dbSNP |
13 | g.113149093G>C | CA388792746 | F10 | c.1043G>C (p.Trp348Ser) c.*34G>C (n.*34G>C) c.911G>C (p.Trp304Ser) | |
13 | g.113149093G= | CA2120140155 | F10 | c.1043G= (p.Trp348=) c.*34G= (n.*34G=) c.911G= (p.Trp304=) | |
13 | g.113149093G>T | CA388792745 | F10 | c.1043G>T (p.Trp348Leu) c.*34G>T (n.*34G>T) c.911G>T (p.Trp304Leu) | gnomAD v4 |
13 | g.113149094G>A | CA388792750 | F10 | c.1044G>A (p.Trp348Ter) c.*35G>A (n.*35G>A) c.912G>A (p.Trp304Ter) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149094G>C | CA388792752 | F10 | c.1044G>C (p.Trp348Cys) c.*35G>C (n.*35G>C) c.912G>C (p.Trp304Cys) | |
13 | g.113149094G= | CA2120140160 | F10 | c.1044G= (p.Trp348=) c.*35G= (n.*35G=) c.912G= (p.Trp304=) | |
13 | g.113149094G>T | CA388792755 | F10 | c.1044G>T (p.Trp348Cys) c.*35G>T (n.*35G>T) c.912G>T (p.Trp304Cys) | |
13 | g.113149095G>A | CA7060674 | F10 | c.1045G>A (p.Ala349Thr) c.*36G>A (n.*36G>A) c.913G>A (p.Ala305Thr) | dbSNP ExAC gnomAD v2 |
13 | g.113149095G>C | CA388792757 | F10 | c.1045G>C (p.Ala349Pro) c.*36G>C (n.*36G>C) c.913G>C (p.Ala305Pro) | |
13 | g.113149095G= | CA2120140163 | F10 | c.1045G= (p.Ala349=) c.*36G= (n.*36G=) c.913G= (p.Ala305=) | |
13 | g.113149095G>T | CA388792758 | F10 | c.1045G>T (p.Ala349Ser) c.*36G>T (n.*36G>T) c.913G>T (p.Ala305Ser) | |
13 | g.113149096C>A | CA388792766 | F10 | c.1046C>A (p.Ala349Asp) c.*37C>A (n.*37C>A) c.914C>A (p.Ala305Asp) | |
13 | g.113149096C>G | CA388792761 | F10 | c.1046C>G (p.Ala349Gly) c.*37C>G (n.*37C>G) c.914C>G (p.Ala305Gly) | |
13 | g.113149096C>T | CA388792764 | F10 | c.1046C>T (p.Ala349Val) c.*37C>T (n.*37C>T) c.914C>T (p.Ala305Val) | |
13 | g.113149097C>A | CA485424070 | F10 | c.1047C>A (p.Ala349=) c.*38C>A (n.*38C>A) c.915C>A (p.Ala305=) | gnomAD v4 |
13 | g.113149097C= | CA2120140166 | F10 | c.1047C= (p.Ala349=) c.*38C= (n.*38C=) c.915C= (p.Ala305=) | |
13 | g.113149097C>G | CA485424071 | F10 | c.1047C>G (p.Ala349=) c.*38C>G (n.*38C>G) c.915C>G (p.Ala305=) | gnomAD v4 |
13 | g.113149097C>T | CA256478678 | F10 | c.1047C>T (p.Ala349=) c.*38C>T (n.*38C>T) c.915C>T (p.Ala305=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149098del | CA2623809576 | F10 | c.1048del (p.Glu350SerfsTer4) c.*39del (n.*39del) c.916del (p.Glu306SerfsTer4) | gnomAD v4 |
13 | g.113149098G>A | CA256478679 | F10 | c.1048G>A (p.Glu350Lys) c.*39G>A (n.*39G>A) c.916G>A (p.Glu306Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149098G>C | CA388792770 | F10 | c.1048G>C (p.Glu350Gln) c.*39G>C (n.*39G>C) c.916G>C (p.Glu306Gln) | |
13 | g.113149098G= | CA2120140169 | F10 | c.1048G= (p.Glu350=) c.*39G= (n.*39G=) c.916G= (p.Glu306=) | |
13 | g.113149098G>T | CA388792773 | F10 | c.1048G>T (p.Glu350Ter) c.*39G>T (n.*39G>T) c.916G>T (p.Glu306Ter) | |
13 | g.113149099A>C | CA388792775 | F10 | c.1049A>C (p.Glu350Ala) c.*40A>C (n.*40A>C) c.917A>C (p.Glu306Ala) | |
13 | g.113149099A>G | CA388792778 | F10 | c.1049A>G (p.Glu350Gly) c.*40A>G (n.*40A>G) c.917A>G (p.Glu306Gly) | |
13 | g.113149099A>T | CA388792780 | F10 | c.1049A>T (p.Glu350Val) c.*40A>T (n.*40A>T) c.917A>T (p.Glu306Val) | |
13 | g.113149100G>A | CA7060675 | F10 | c.1050G>A (p.Glu350=) c.*41G>A (n.*41G>A) c.918G>A (p.Glu306=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149100G>C | CA388792783 | F10 | c.1050G>C (p.Glu350Asp) c.*41G>C (n.*41G>C) c.918G>C (p.Glu306Asp) | |
13 | g.113149100G= | CA2120140171 | F10 | c.1050G= (p.Glu350=) c.*41G= (n.*41G=) c.918G= (p.Glu306=) | |
13 | g.113149100G>T | CA388792785 | F10 | c.1050G>T (p.Glu350Asp) c.*41G>T (n.*41G>T) c.918G>T (p.Glu306Asp) | |
13 | g.113149101T>A | CA388792788 | F10 | c.1051T>A (p.Ser351Thr) c.*42T>A (n.*42T>A) c.919T>A (p.Ser307Thr) | |
13 | g.113149101T>C | CA388792789 | F10 | c.1051T>C (p.Ser351Pro) c.*42T>C (n.*42T>C) c.919T>C (p.Ser307Pro) | gnomAD v4 |
13 | g.113149101T>G | CA388792792 | F10 | c.1051T>G (p.Ser351Ala) c.*42T>G (n.*42T>G) c.919T>G (p.Ser307Ala) | |
13 | g.113149102C>A | CA388792794 | F10 | c.1052C>A (p.Ser351Tyr) c.*43C>A (n.*43C>A) c.920C>A (p.Ser307Tyr) | |
13 | g.113149102C>G | CA388792799 | F10 | c.1052C>G (p.Ser351Cys) c.*43C>G (n.*43C>G) c.920C>G (p.Ser307Cys) | |
13 | g.113149102C>T | CA388792796 | F10 | c.1052C>T (p.Ser351Phe) c.*43C>T (n.*43C>T) c.920C>T (p.Ser307Phe) | |
13 | g.113149103C>A | CA485424072 | F10 | c.1053C>A (p.Ser351=) c.*44C>A (n.*44C>A) c.921C>A (p.Ser307=) | COSMIC |
13 | g.113149103C>G | CA485424073 | F10 | c.1053C>G (p.Ser351=) c.*44C>G (n.*44C>G) c.921C>G (p.Ser307=) | |
13 | g.113149103C>T | CA485424074 | F10 | c.1053C>T (p.Ser351=) c.*44C>T (n.*44C>T) c.921C>T (p.Ser307=) | gnomAD v4 |
13 | g.113149104A>C | CA388792801 | F10 | c.1054A>C (p.Thr352Pro) c.*45A>C (n.*45A>C) c.922A>C (p.Thr308Pro) | |
13 | g.113149104A>G | CA388792802 | F10 | c.1054A>G (p.Thr352Ala) c.*45A>G (n.*45A>G) c.922A>G (p.Thr308Ala) | |
13 | g.113149104A>T | CA388792805 | F10 | c.1054A>T (p.Thr352Ser) c.*45A>T (n.*45A>T) c.922A>T (p.Thr308Ser) | |
13 | g.113149105C>A | CA388792808 | F10 | c.1055C>A (p.Thr352Lys) c.*46C>A (n.*46C>A) c.923C>A (p.Thr308Lys) | |
13 | g.113149105C= | CA2120140173 | F10 | c.1055C= (p.Thr352=) c.*46C= (n.*46C=) c.923C= (p.Thr308=) | |
13 | g.113149105C>G | CA388792809 | F10 | c.1055C>G (p.Thr352Arg) c.*46C>G (n.*46C>G) c.923C>G (p.Thr308Arg) | |
13 | g.113149105C>T | CA388792810 | F10 | c.1055C>T (p.Thr352Met) c.*46C>T (n.*46C>T) c.923C>T (p.Thr308Met) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149106G>A | CA7060676 | F10 | c.1056G>A (p.Thr352=) c.*47G>A (n.*47G>A) c.924G>A (p.Thr308=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149106G>C | CA485424075 | F10 | c.1056G>C (p.Thr352=) c.*47G>C (n.*47G>C) c.924G>C (p.Thr308=) | |
13 | g.113149106G= | CA2120140175 | F10 | c.1056G= (p.Thr352=) c.*47G= (n.*47G=) c.924G= (p.Thr308=) | |
13 | g.113149106G>T | CA485424076 | F10 | c.1056G>T (p.Thr352=) c.*47G>T (n.*47G>T) c.924G>T (p.Thr308=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149107C>A | CA388792813 | F10 | c.1057C>A (p.Leu353Met) c.*48C>A (n.*48C>A) c.925C>A (p.Leu309Met) | |
13 | g.113149107C>G | CA388792816 | F10 | c.1057C>G (p.Leu353Val) c.*48C>G (n.*48C>G) c.925C>G (p.Leu309Val) | |
13 | g.113149107C>T | CA485424077 | F10 | c.1057C>T (p.Leu353=) c.*48C>T (n.*48C>T) c.925C>T (p.Leu309=) | |
13 | g.113149107_113149108delinsCT | CA2120140177 | F10 | c.1057_1058delinsCT (p.Leu353=) c.*48_*49delinsCT (n.*48_*49delinsCT) c.925_926delinsCT (p.Leu309=) | |
13 | g.113149108del | CA7060677 | F10 | c.1058del (p.Leu353ArgfsTer2) c.*49del (n.*49del) c.926del (p.Leu309ArgfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149108T>A | CA388792818 | F10 | c.1058T>A (p.Leu353Gln) c.*49T>A (n.*49T>A) c.926T>A (p.Leu309Gln) | |
13 | g.113149108T>C | CA388792820 | F10 | c.1058T>C (p.Leu353Pro) c.*49T>C (n.*49T>C) c.926T>C (p.Leu309Pro) | gnomAD v4 |
13 | g.113149108T>G | CA388792823 | F10 | c.1058T>G (p.Leu353Arg) c.*49T>G (n.*49T>G) c.926T>G (p.Leu309Arg) | |
13 | g.113149109G>A | CA485424078 | F10 | c.1059G>A (p.Leu353=) c.*50G>A (n.*50G>A) c.927G>A (p.Leu309=) | |
13 | g.113149109G>C | CA256478684 | F10 | c.1059G>C (p.Leu353=) c.*50G>C (n.*50G>C) c.927G>C (p.Leu309=) | dbSNP gnomAD v4 |
13 | g.113149109G= | CA2120140179 | F10 | c.1059G= (p.Leu353=) c.*50G= (n.*50G=) c.927G= (p.Leu309=) | |
13 | g.113149109G>T | CA485424079 | F10 | c.1059G>T (p.Leu353=) c.*50G>T (n.*50G>T) c.927G>T (p.Leu309=) | |
13 | g.113149110A>C | CA388792830 | F10 | c.1060A>C (p.Met354Leu) c.*51A>C (n.*51A>C) c.928A>C (p.Met310Leu) | |
13 | g.113149110A>G | CA388792827 | F10 | c.1060A>G (p.Met354Val) c.*51A>G (n.*51A>G) c.928A>G (p.Met310Val) | |
13 | g.113149110A>T | CA388792829 | F10 | c.1060A>T (p.Met354Leu) c.*51A>T (n.*51A>T) c.928A>T (p.Met310Leu) | |
13 | g.113149111T>A | CA388792833 | F10 | c.1061T>A (p.Met354Lys) c.*52T>A (n.*52T>A) c.929T>A (p.Met310Lys) | |
13 | g.113149111T>C | CA388792836 | F10 | c.1061T>C (p.Met354Thr) c.*52T>C (n.*52T>C) c.929T>C (p.Met310Thr) | |
13 | g.113149111T>G | CA388792838 | F10 | c.1061T>G (p.Met354Arg) c.*52T>G (n.*52T>G) c.929T>G (p.Met310Arg) | |
13 | g.113149112G>A | CA388792841 | F10 | c.1062G>A (p.Met354Ile) c.*53G>A (n.*53G>A) c.930G>A (p.Met310Ile) | |
13 | g.113149112G>C | CA388792843 | F10 | c.1062G>C (p.Met354Ile) c.*53G>C (n.*53G>C) c.930G>C (p.Met310Ile) | |
13 | g.113149112G>T | CA388792845 | F10 | c.1062G>T (p.Met354Ile) c.*53G>T (n.*53G>T) c.930G>T (p.Met310Ile) | |
13 | g.113149113A= | CA2120140182 | F10 | c.1063A= (p.Thr355=) c.*54A= (n.*54A=) c.931A= (p.Thr311=) | |
13 | g.113149113A>C | CA388792848 | F10 | c.1063A>C (p.Thr355Pro) c.*54A>C (n.*54A>C) c.931A>C (p.Thr311Pro) | |
13 | g.113149113A>G | CA7060678 | F10 | c.1063A>G (p.Thr355Ala) c.*54A>G (n.*54A>G) c.931A>G (p.Thr311Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149113A>T | CA388792853 | F10 | c.1063A>T (p.Thr355Ser) c.*54A>T (n.*54A>T) c.931A>T (p.Thr311Ser) | |
13 | g.113149114C>A | CA7060679 | F10 | c.1064C>A (p.Thr355Lys) c.*55C>A (n.*55C>A) c.932C>A (p.Thr311Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149114C= | CA2120140183 | F10 | c.1064C= (p.Thr355=) c.*55C= (n.*55C=) c.932C= (p.Thr311=) | |
13 | g.113149114C>G | CA388792854 | F10 | c.1064C>G (p.Thr355Arg) c.*55C>G (n.*55C>G) c.932C>G (p.Thr311Arg) | |
13 | g.113149114C>T | CA388792856 | F10 | c.1064C>T (p.Thr355Met) c.*55C>T (n.*55C>T) c.932C>T (p.Thr311Met) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149115G>A | CA485424081 | F10 | c.1065G>A (p.Thr355=) c.*56G>A (n.*56G>A) c.933G>A (p.Thr311=) | dbSNP gnomAD v4 |
13 | g.113149115G>C | CA485424082 | F10 | c.1065G>C (p.Thr355=) c.*56G>C (n.*56G>C) c.933G>C (p.Thr311=) | |
13 | g.113149115G= | CA2120140185 | F10 | c.1065G= (p.Thr355=) c.*56G= (n.*56G=) c.933G= (p.Thr311=) | |
13 | g.113149115G>T | CA485424080 | F10 | c.1065G>T (p.Thr355=) c.*56G>T (n.*56G>T) c.933G>T (p.Thr311=) | |
13 | g.113149116C>A | CA388792864 | F10 | c.1066C>A (p.Gln356Lys) c.*57C>A (n.*57C>A) c.934C>A (p.Gln312Lys) | |
13 | g.113149116C>G | CA388792859 | F10 | c.1066C>G (p.Gln356Glu) c.*57C>G (n.*57C>G) c.934C>G (p.Gln312Glu) | |
13 | g.113149116C>T | CA388792862 | F10 | c.1066C>T (p.Gln356Ter) c.*57C>T (n.*57C>T) c.934C>T (p.Gln312Ter) | |
13 | g.113149117A= | CA2120140188 | F10 | c.1067A= (p.Gln356=) c.*58A= (n.*58A=) c.935A= (p.Gln312=) | |
13 | g.113149117A>C | CA388792866 | F10 | c.1067A>C (p.Gln356Pro) c.*58A>C (n.*58A>C) c.935A>C (p.Gln312Pro) | |
13 | g.113149117A>G | CA388792871 | F10 | c.1067A>G (p.Gln356Arg) c.*58A>G (n.*58A>G) c.935A>G (p.Gln312Arg) | dbSNP gnomAD v4 |
13 | g.113149117A>T | CA388792869 | F10 | c.1067A>T (p.Gln356Leu) c.*58A>T (n.*58A>T) c.935A>T (p.Gln312Leu) | |
13 | g.113149118G>A | CA485424083 | F10 | c.1068G>A (p.Gln356=) c.*59G>A (n.*59G>A) c.936G>A (p.Gln312=) | |
13 | g.113149118G>C | CA388792872 | F10 | c.1068G>C (p.Gln356His) c.*59G>C (n.*59G>C) c.936G>C (p.Gln312His) | |
13 | g.113149118G>T | CA388792874 | F10 | c.1068G>T (p.Gln356His) c.*59G>T (n.*59G>T) c.936G>T (p.Gln312His) | |
13 | g.113149119A= | CA2120140191 | F10 | c.1069A= (p.Lys357=) c.*60A= (n.*60A=) c.937A= (p.Lys313=) | |
13 | g.113149119A>C | CA388792876 | F10 | c.1069A>C (p.Lys357Gln) c.*60A>C (n.*60A>C) c.937A>C (p.Lys313Gln) | gnomAD v4 |
13 | g.113149119A>G | CA388792878 | F10 | c.1069A>G (p.Lys357Glu) c.*60A>G (n.*60A>G) c.937A>G (p.Lys313Glu) | dbSNP gnomAD v2 |
13 | g.113149119A>T | CA388792881 | F10 | c.1069A>T (p.Lys357Ter) c.*60A>T (n.*60A>T) c.937A>T (p.Lys313Ter) | |
13 | g.113149120A>C | CA388792883 | F10 | c.1070A>C (p.Lys357Thr) c.*61A>C (n.*61A>C) c.938A>C (p.Lys313Thr) | |
13 | g.113149120A>G | CA388792885 | F10 | c.1070A>G (p.Lys357Arg) c.*61A>G (n.*61A>G) c.938A>G (p.Lys313Arg) | |
13 | g.113149120A>T | CA388792886 | F10 | c.1070A>T (p.Lys357Met) c.*61A>T (n.*61A>T) c.938A>T (p.Lys313Met) | gnomAD v4 |
13 | g.113149121G>A | CA485424084 | F10 | c.1071G>A (p.Lys357=) c.*62G>A (n.*62G>A) c.939G>A (p.Lys313=) | COSMIC |
13 | g.113149121G>C | CA388792888 | F10 | c.1071G>C (p.Lys357Asn) c.*62G>C (n.*62G>C) c.939G>C (p.Lys313Asn) | |
13 | g.113149121G>T | CA388792889 | F10 | c.1071G>T (p.Lys357Asn) c.*62G>T (n.*62G>T) c.939G>T (p.Lys313Asn) | |
13 | g.113149122A>C | CA388792892 | F10 | c.1072A>C (p.Thr358Pro) c.*63A>C (n.*63A>C) c.940A>C (p.Thr314Pro) | |
13 | g.113149122A>G | CA388792894 | F10 | c.1072A>G (p.Thr358Ala) c.*63A>G (n.*63A>G) c.940A>G (p.Thr314Ala) | |
13 | g.113149122A>T | CA388792895 | F10 | c.1072A>T (p.Thr358Ser) c.*63A>T (n.*63A>T) c.940A>T (p.Thr314Ser) | |
13 | g.113149123C>A | CA388792899 | F10 | c.1073C>A (p.Thr358Lys) c.*64C>A (n.*64C>A) c.941C>A (p.Thr314Lys) | |
13 | g.113149123C= | CA2120140193 | F10 | c.1073C= (p.Thr358=) c.*64C= (n.*64C=) c.941C= (p.Thr314=) | |
13 | g.113149123C>G | CA388792902 | F10 | c.1073C>G (p.Thr358Arg) c.*64C>G (n.*64C>G) c.941C>G (p.Thr314Arg) | |
13 | g.113149123C>T | CA7060680 | F10 | c.1073C>T (p.Thr358Met) c.*64C>T (n.*64C>T) c.941C>T (p.Thr314Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149124G>A | CA7060681 | F10 | c.1074G>A (p.Thr358=) c.*65G>A (n.*65G>A) c.942G>A (p.Thr314=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149124G>C | CA256478687 | F10 | c.1074G>C (p.Thr358=) c.*65G>C (n.*65G>C) c.942G>C (p.Thr314=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149124G= | CA2120140196 | F10 | c.1074G= (p.Thr358=) c.*65G= (n.*65G=) c.942G= (p.Thr314=) | |
13 | g.113149124G>T | CA485424096 | F10 | c.1074G>T (p.Thr358=) c.*65G>T (n.*65G>T) c.942G>T (p.Thr314=) | gnomAD v4 |
13 | g.113149127del | CA2623809597 | F10 | c.1077del (p.Ile360LeufsTer2) c.*68del (n.*68del) c.945del (p.Ile316LeufsTer2) | gnomAD v4 |
13 | g.113149125G>A | CA388792906 | F10 | c.1075G>A (p.Gly359Arg) c.*66G>A (n.*66G>A) c.943G>A (p.Gly315Arg) | |
13 | g.113149125G>C | CA388792908 | F10 | c.1075G>C (p.Gly359Arg) c.*66G>C (n.*66G>C) c.943G>C (p.Gly315Arg) | dbSNP gnomAD v4 |
13 | g.113149125G= | CA2120140199 | F10 | c.1075G= (p.Gly359=) c.*66G= (n.*66G=) c.943G= (p.Gly315=) | |
13 | g.113149125G>T | CA388792911 | F10 | c.1075G>T (p.Gly359Trp) c.*66G>T (n.*66G>T) c.943G>T (p.Gly315Trp) | |
13 | g.113149126G>A | CA388792914 | F10 | c.1076G>A (p.Gly359Glu) c.*67G>A (n.*67G>A) c.944G>A (p.Gly315Glu) | |
13 | g.113149126G>C | CA388792915 | F10 | c.1076G>C (p.Gly359Ala) c.*67G>C (n.*67G>C) c.944G>C (p.Gly315Ala) | gnomAD v4 |
13 | g.113149126G= | CA2120140202 | F10 | c.1076G= (p.Gly359=) c.*67G= (n.*67G=) c.944G= (p.Gly315=) | |
13 | g.113149126G>T | CA388792917 | F10 | c.1076G>T (p.Gly359Val) c.*67G>T (n.*67G>T) c.944G>T (p.Gly315Val) | dbSNP |
13 | g.113149127G>A | CA485424097 | F10 | c.1077G>A (p.Gly359=) c.*68G>A (n.*68G>A) c.945G>A (p.Gly315=) | |
13 | g.113149127G>C | CA485424100 | F10 | c.1077G>C (p.Gly359=) c.*68G>C (n.*68G>C) c.945G>C (p.Gly315=) | |
13 | g.113149127G>T | CA485424101 | F10 | c.1077G>T (p.Gly359=) c.*68G>T (n.*68G>T) c.945G>T (p.Gly315=) | gnomAD v4 |
13 | g.113149128A>C | CA388792919 | F10 | c.1078A>C (p.Ile360Leu) c.*69A>C (n.*69A>C) c.946A>C (p.Ile316Leu) | |
13 | g.113149128A>G | CA388792921 | F10 | c.1078A>G (p.Ile360Val) c.*69A>G (n.*69A>G) c.946A>G (p.Ile316Val) | |
13 | g.113149128A>T | CA388792923 | F10 | c.1078A>T (p.Ile360Phe) c.*69A>T (n.*69A>T) c.946A>T (p.Ile316Phe) | |
13 | g.113149129T>A | CA388792929 | F10 | c.1079T>A (p.Ile360Asn) c.*70T>A (n.*70T>A) c.947T>A (p.Ile316Asn) | |
13 | g.113149129T>C | CA388792928 | F10 | c.1079T>C (p.Ile360Thr) c.*70T>C (n.*70T>C) c.947T>C (p.Ile316Thr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149129T>G | CA388792925 | F10 | c.1079T>G (p.Ile360Ser) c.*70T>G (n.*70T>G) c.947T>G (p.Ile316Ser) | |
13 | g.113149129T= | CA2120140205 | F10 | c.1079T= (p.Ile360=) c.*70T= (n.*70T=) c.947T= (p.Ile316=) | |
13 | g.113149130T>A | CA485424103 | F10 | c.1080T>A (p.Ile360=) c.*71T>A (n.*71T>A) c.948T>A (p.Ile316=) | |
13 | g.113149130T>C | CA485424105 | F10 | c.1080T>C (p.Ile360=) c.*71T>C (n.*71T>C) c.948T>C (p.Ile316=) | |
13 | g.113149130T>G | CA388792932 | F10 | c.1080T>G (p.Ile360Met) c.*71T>G (n.*71T>G) c.948T>G (p.Ile316Met) | |
13 | g.113149131G>A | CA388792934 | F10 | c.1081G>A (p.Val361Met) c.*72G>A (n.*72G>A) c.949G>A (p.Val317Met) | |
13 | g.113149131G>C | CA388792936 | F10 | c.1081G>C (p.Val361Leu) c.*72G>C (n.*72G>C) c.949G>C (p.Val317Leu) | |
13 | g.113149131G>T | CA388792938 | F10 | c.1081G>T (p.Val361Leu) c.*72G>T (n.*72G>T) c.949G>T (p.Val317Leu) | |
13 | g.113149132T>A | CA388792940 | F10 | c.1082T>A (p.Val361Glu) c.*73T>A (n.*73T>A) c.950T>A (p.Val317Glu) | |
13 | g.113149132T>C | CA388792942 | F10 | c.1082T>C (p.Val361Ala) c.*73T>C (n.*73T>C) c.950T>C (p.Val317Ala) | |
13 | g.113149132T>G | CA388792944 | F10 | c.1082T>G (p.Val361Gly) c.*73T>G (n.*73T>G) c.950T>G (p.Val317Gly) |