Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.1496031_1496047dup | CA624458135 | INPP5K | c.1290+21_1290+37dup (n.1290+21_1290+37dup) c.1062+21_1062+37dup (n.1062+21_1062+37dup) c.*881+21_*881+37dup (n.*881+21_*881+37dup) n.402+21_402+37dup c.1014+21_1014+37dup (n.1014+21_1014+37dup) c.885+21_885+37dup (n.885+21_885+37dup) | dbSNP gnomAD v2 |
17 | g.1496031_1496047del | CA2576110907 | INPP5K | c.1290+21_1290+37del (n.1290+21_1290+37del) c.1062+21_1062+37del (n.1062+21_1062+37del) c.*881+21_*881+37del (n.*881+21_*881+37del) n.402+21_402+37del c.1014+21_1014+37del (n.1014+21_1014+37del) c.885+21_885+37del (n.885+21_885+37del) | |
17 | g.1496037_1496042del | CA2635219225 | INPP5K | c.1290+26_1290+31del (n.1290+26_1290+31del) c.1062+26_1062+31del (n.1062+26_1062+31del) c.*881+26_*881+31del (n.*881+26_*881+31del) n.402+26_402+31del c.1014+26_1014+31del (n.1014+26_1014+31del) c.885+26_885+31del (n.885+26_885+31del) | gnomAD v4 |
17 | g.1496039T>C | CA2635219234 | INPP5K | c.1290+21A>G (n.1290+21A>G) c.1062+21A>G (n.1062+21A>G) c.*881+21A>G (n.*881+21A>G) n.402+21A>G c.1014+21A>G (n.1014+21A>G) c.885+21A>G (n.885+21A>G) | gnomAD v4 |
17 | g.1496040C>T | CA2576110911 | INPP5K | c.1290+20G>A (n.1290+20G>A) c.1062+20G>A (n.1062+20G>A) c.*881+20G>A (n.*881+20G>A) n.402+20G>A c.1014+20G>A (n.1014+20G>A) c.885+20G>A (n.885+20G>A) | gnomAD v4 |
17 | g.1496041C>T | CA2635219235 | INPP5K | c.1290+19G>A (n.1290+19G>A) c.1062+19G>A (n.1062+19G>A) c.*881+19G>A (n.*881+19G>A) n.402+19G>A c.1014+19G>A (n.1014+19G>A) c.885+19G>A (n.885+19G>A) | gnomAD v4 |
17 | g.1496042C= | CA2242889284 | INPP5K | c.1290+18G= (n.1290+18G=) c.1062+18G= (n.1062+18G=) c.*881+18G= (n.*881+18G=) n.402+18G= c.1014+18G= (n.1014+18G=) c.885+18G= (n.885+18G=) | |
17 | g.1496042C>G | CA2242889285 | INPP5K | c.1290+18G>C (n.1290+18G>C) c.1062+18G>C (n.1062+18G>C) c.*881+18G>C (n.*881+18G>C) n.402+18G>C c.1014+18G>C (n.1014+18G>C) c.885+18G>C (n.885+18G>C) | dbSNP |
17 | g.1496043T>C | CA2242889287 | INPP5K | c.1290+17A>G (n.1290+17A>G) c.1062+17A>G (n.1062+17A>G) c.*881+17A>G (n.*881+17A>G) n.402+17A>G c.1014+17A>G (n.1014+17A>G) c.885+17A>G (n.885+17A>G) | dbSNP gnomAD v4 |
17 | g.1496043T= | CA2242889286 | INPP5K | c.1290+17A= (n.1290+17A=) c.1062+17A= (n.1062+17A=) c.*881+17A= (n.*881+17A=) n.402+17A= c.1014+17A= (n.1014+17A=) c.885+17A= (n.885+17A=) | |
17 | g.1496044C>T | CA2635219236 | INPP5K | c.1290+16G>A (n.1290+16G>A) c.1062+16G>A (n.1062+16G>A) c.*881+16G>A (n.*881+16G>A) n.402+16G>A c.1014+16G>A (n.1014+16G>A) c.885+16G>A (n.885+16G>A) | gnomAD v4 |
17 | g.1496045A>T | CA2635219237 | INPP5K | c.1290+15T>A (n.1290+15T>A) c.1062+15T>A (n.1062+15T>A) c.*881+15T>A (n.*881+15T>A) n.402+15T>A c.1014+15T>A (n.1014+15T>A) c.885+15T>A (n.885+15T>A) | gnomAD v4 |
17 | g.1496046C>A | CA286807744 | INPP5K | c.1290+14G>T (n.1290+14G>T) c.1062+14G>T (n.1062+14G>T) c.*881+14G>T (n.*881+14G>T) n.402+14G>T c.1014+14G>T (n.1014+14G>T) c.885+14G>T (n.885+14G>T) | dbSNP gnomAD v4 |
17 | g.1496046C= | CA2242889288 | INPP5K | c.1290+14G= (n.1290+14G=) c.1062+14G= (n.1062+14G=) c.*881+14G= (n.*881+14G=) n.402+14G= c.1014+14G= (n.1014+14G=) c.885+14G= (n.885+14G=) | |
17 | g.1496046C>T | CA2635219239 | INPP5K | c.1290+14G>A (n.1290+14G>A) c.1062+14G>A (n.1062+14G>A) c.*881+14G>A (n.*881+14G>A) n.402+14G>A c.1014+14G>A (n.1014+14G>A) c.885+14G>A (n.885+14G>A) | gnomAD v4 |
17 | g.1496047C>G | CA2576110912 | INPP5K | c.1290+13G>C (n.1290+13G>C) c.1062+13G>C (n.1062+13G>C) c.*881+13G>C (n.*881+13G>C) n.402+13G>C c.1014+13G>C (n.1014+13G>C) c.885+13G>C (n.885+13G>C) | |
17 | g.1496047C>T | CA2635219240 | INPP5K | c.1290+13G>A (n.1290+13G>A) c.1062+13G>A (n.1062+13G>A) c.*881+13G>A (n.*881+13G>A) n.402+13G>A c.1014+13G>A (n.1014+13G>A) c.885+13G>A (n.885+13G>A) | gnomAD v4 |
17 | g.1496048A= | CA2242889289 | INPP5K | c.1290+12T= (n.1290+12T=) c.1062+12T= (n.1062+12T=) c.*881+12T= (n.*881+12T=) n.402+12T= c.1014+12T= (n.1014+12T=) c.885+12T= (n.885+12T=) | |
17 | g.1496048A>G | CA8268304 | INPP5K | c.1290+12T>C (n.1290+12T>C) c.1062+12T>C (n.1062+12T>C) c.*881+12T>C (n.*881+12T>C) n.402+12T>C c.1014+12T>C (n.1014+12T>C) c.885+12T>C (n.885+12T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496049G>A | CA2635219241 | INPP5K | c.1290+11C>T (n.1290+11C>T) c.1062+11C>T (n.1062+11C>T) c.*881+11C>T (n.*881+11C>T) n.402+11C>T c.1014+11C>T (n.1014+11C>T) c.885+11C>T (n.885+11C>T) | gnomAD v4 |
17 | g.1496049G>T | CA2635219242 | INPP5K | c.1290+11C>A (n.1290+11C>A) c.1062+11C>A (n.1062+11C>A) c.*881+11C>A (n.*881+11C>A) n.402+11C>A c.1014+11C>A (n.1014+11C>A) c.885+11C>A (n.885+11C>A) | gnomAD v4 |
17 | g.1496050C= | CA2242889290 | INPP5K | c.1290+10G= (n.1290+10G=) c.1062+10G= (n.1062+10G=) c.*881+10G= (n.*881+10G=) n.402+10G= c.1014+10G= (n.1014+10G=) c.885+10G= (n.885+10G=) | |
17 | g.1496050C>G | CA2635219243 | INPP5K | c.1290+10G>C (n.1290+10G>C) c.1062+10G>C (n.1062+10G>C) c.*881+10G>C (n.*881+10G>C) n.402+10G>C c.1014+10G>C (n.1014+10G>C) c.885+10G>C (n.885+10G>C) | gnomAD v4 |
17 | g.1496050C>T | CA8268305 | INPP5K | c.1290+10G>A (n.1290+10G>A) c.1062+10G>A (n.1062+10G>A) c.*881+10G>A (n.*881+10G>A) n.402+10G>A c.1014+10G>A (n.1014+10G>A) c.885+10G>A (n.885+10G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496052C>T | CA2635219244 | INPP5K | c.1290+8G>A (n.1290+8G>A) c.1062+8G>A (n.1062+8G>A) c.*881+8G>A (n.*881+8G>A) n.402+8G>A c.1014+8G>A (n.1014+8G>A) c.885+8G>A (n.885+8G>A) | gnomAD v4 |
17 | g.1496053T>C | CA2635219245 | INPP5K | c.1290+7A>G (n.1290+7A>G) c.1062+7A>G (n.1062+7A>G) c.*881+7A>G (n.*881+7A>G) n.402+7A>G c.1014+7A>G (n.1014+7A>G) c.885+7A>G (n.885+7A>G) | gnomAD v4 |
17 | g.1496054G= | CA2242889291 | INPP5K | c.1290+6C= (n.1290+6C=) c.1062+6C= (n.1062+6C=) c.*881+6C= (n.*881+6C=) n.402+6C= c.1014+6C= (n.1014+6C=) c.885+6C= (n.885+6C=) | |
17 | g.1496054G>T | CA8268306 | INPP5K | c.1290+6C>A (n.1290+6C>A) c.1062+6C>A (n.1062+6C>A) c.*881+6C>A (n.*881+6C>A) n.402+6C>A c.1014+6C>A (n.1014+6C>A) c.885+6C>A (n.885+6C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496055C= | CA2242889292 | INPP5K | c.1290+5G= (n.1290+5G=) c.1062+5G= (n.1062+5G=) c.*881+5G= (n.*881+5G=) n.402+5G= c.1014+5G= (n.1014+5G=) c.885+5G= (n.885+5G=) | |
17 | g.1496055C>T | CA2635219247 | INPP5K | c.1290+5G>A (n.1290+5G>A) c.1062+5G>A (n.1062+5G>A) c.*881+5G>A (n.*881+5G>A) n.402+5G>A c.1014+5G>A (n.1014+5G>A) c.885+5G>A (n.885+5G>A) | gnomAD v4 |
17 | g.1496056T>C | CA624458136 | INPP5K | c.1290+4A>G (n.1290+4A>G) c.1062+4A>G (n.1062+4A>G) c.*881+4A>G (n.*881+4A>G) n.402+4A>G c.1014+4A>G (n.1014+4A>G) c.885+4A>G (n.885+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1496056T= | CA2242889293 | INPP5K | c.1290+4A= (n.1290+4A=) c.1062+4A= (n.1062+4A=) c.*881+4A= (n.*881+4A=) n.402+4A= c.1014+4A= (n.1014+4A=) c.885+4A= (n.885+4A=) | |
17 | g.1496057dup | CA286807782 | INPP5K | c.1290+4dup (n.1290+4dup) c.1062+4dup (n.1062+4dup) c.*881+4dup (n.*881+4dup) n.402+4dup c.1014+4dup (n.1014+4dup) c.885+4dup (n.885+4dup) | dbSNP |
17 | g.1496058A>C | CA397535900 | INPP5K | c.1290+2T>G (n.1290+2T>G) c.1062+2T>G (n.1062+2T>G) c.*881+2T>G (n.*881+2T>G) n.402+2T>G c.1014+2T>G (n.1014+2T>G) c.885+2T>G (n.885+2T>G) | |
17 | g.1496058A>G | CA397535908 | INPP5K | c.1290+2T>C (n.1290+2T>C) c.1062+2T>C (n.1062+2T>C) c.*881+2T>C (n.*881+2T>C) n.402+2T>C c.1014+2T>C (n.1014+2T>C) c.885+2T>C (n.885+2T>C) | |
17 | g.1496058A>T | CA397535903 | INPP5K | c.1290+2T>A (n.1290+2T>A) c.1062+2T>A (n.1062+2T>A) c.*881+2T>A (n.*881+2T>A) n.402+2T>A c.1014+2T>A (n.1014+2T>A) c.885+2T>A (n.885+2T>A) | |
17 | g.1496059C>A | CA397535912 | INPP5K | c.1290+1G>T (n.1290+1G>T) c.1062+1G>T (n.1062+1G>T) c.*881+1G>T (n.*881+1G>T) n.402+1G>T c.1014+1G>T (n.1014+1G>T) c.885+1G>T (n.885+1G>T) | |
17 | g.1496059C>G | CA397535917 | INPP5K | c.1290+1G>C (n.1290+1G>C) c.1062+1G>C (n.1062+1G>C) c.*881+1G>C (n.*881+1G>C) n.402+1G>C c.1014+1G>C (n.1014+1G>C) c.885+1G>C (n.885+1G>C) | |
17 | g.1496059C>T | CA397535918 | INPP5K | c.1290+1G>A (n.1290+1G>A) c.1062+1G>A (n.1062+1G>A) c.*881+1G>A (n.*881+1G>A) n.402+1G>A c.1014+1G>A (n.1014+1G>A) c.885+1G>A (n.885+1G>A) | |
17 | g.1496060C>A | CA397535920 | INPP5K | c.1290G>T (p.Gln430His) c.1062G>T (p.Gln354His) c.*881G>T (n.*881G>T) n.402G>T c.1014G>T (p.Gln338His) c.885G>T (p.Gln295His) | |
17 | g.1496060C>G | CA397535921 | INPP5K | c.1290G>C (p.Gln430His) c.1062G>C (p.Gln354His) c.*881G>C (n.*881G>C) n.402G>C c.1014G>C (p.Gln338His) c.885G>C (p.Gln295His) | |
17 | g.1496060C>T | CA497278598 | INPP5K | c.1290G>A (p.Gln430=) c.1062G>A (p.Gln354=) c.*881G>A (n.*881G>A) n.402G>A c.1014G>A (p.Gln338=) c.885G>A (p.Gln295=) | |
17 | g.1496061T>A | CA397535924 | INPP5K | c.1289A>T (p.Gln430Leu) c.1061A>T (p.Gln354Leu) c.*880A>T (n.*880A>T) n.401A>T c.1013A>T (p.Gln338Leu) c.884A>T (p.Gln295Leu) | |
17 | g.1496061T>C | CA397535927 | INPP5K | c.1289A>G (p.Gln430Arg) c.1061A>G (p.Gln354Arg) c.*880A>G (n.*880A>G) n.401A>G c.1013A>G (p.Gln338Arg) c.884A>G (p.Gln295Arg) | gnomAD v4 |
17 | g.1496061T>G | CA397535928 | INPP5K | c.1289A>C (p.Gln430Pro) c.1061A>C (p.Gln354Pro) c.*880A>C (n.*880A>C) n.401A>C c.1013A>C (p.Gln338Pro) c.884A>C (p.Gln295Pro) | |
17 | g.1496062G>A | CA397535930 | INPP5K | c.1288C>T (p.Gln430Ter) c.1060C>T (p.Gln354Ter) c.*879C>T (n.*879C>T) n.400C>T c.1012C>T (p.Gln338Ter) c.883C>T (p.Gln295Ter) | gnomAD v4 COSMIC COSMIC |
17 | g.1496062G>C | CA397535932 | INPP5K | c.1288C>G (p.Gln430Glu) c.1060C>G (p.Gln354Glu) c.*879C>G (n.*879C>G) n.400C>G c.1012C>G (p.Gln338Glu) c.883C>G (p.Gln295Glu) | |
17 | g.1496062G>T | CA397535935 | INPP5K | c.1288C>A (p.Gln430Lys) c.1060C>A (p.Gln354Lys) c.*879C>A (n.*879C>A) n.400C>A c.1012C>A (p.Gln338Lys) c.883C>A (p.Gln295Lys) | gnomAD v4 |
17 | g.1496064_1496067del | CA2635219250 | INPP5K | c.1285_1288del (p.Phe429ArgfsTer7) c.1057_1060del (p.Phe353ArgfsTer7) c.*876_*879del (n.*876_*879del) n.397_400del c.1009_1012del (p.Phe337ArgfsTer7) c.880_883del (p.Phe294ArgfsTer7) | gnomAD v4 |
17 | g.1496063G>A | CA497278602 | INPP5K | c.1287C>T (p.Phe429=) c.1059C>T (p.Phe353=) c.*878C>T (n.*878C>T) n.399C>T c.1011C>T (p.Phe337=) c.882C>T (p.Phe294=) | |
17 | g.1496063G>C | CA397535940 | INPP5K | c.1287C>G (p.Phe429Leu) c.1059C>G (p.Phe353Leu) c.*878C>G (n.*878C>G) n.399C>G c.1011C>G (p.Phe337Leu) c.882C>G (p.Phe294Leu) | dbSNP |
17 | g.1496063G= | CA2242889294 | INPP5K | c.1287C= (p.Phe429=) c.1059C= (p.Phe353=) c.*878C= (n.*878C=) n.399C= c.1011C= (p.Phe337=) c.882C= (p.Phe294=) | |
17 | g.1496063G>T | CA397535937 | INPP5K | c.1287C>A (p.Phe429Leu) c.1059C>A (p.Phe353Leu) c.*878C>A (n.*878C>A) n.399C>A c.1011C>A (p.Phe337Leu) c.882C>A (p.Phe294Leu) | gnomAD v4 |
17 | g.1496064A>C | CA397535943 | INPP5K | c.1286T>G (p.Phe429Cys) c.1058T>G (p.Phe353Cys) c.*877T>G (n.*877T>G) n.398T>G c.1010T>G (p.Phe337Cys) c.881T>G (p.Phe294Cys) | |
17 | g.1496064A>G | CA397535945 | INPP5K | c.1286T>C (p.Phe429Ser) c.1058T>C (p.Phe353Ser) c.*877T>C (n.*877T>C) n.398T>C c.1010T>C (p.Phe337Ser) c.881T>C (p.Phe294Ser) | |
17 | g.1496064A>T | CA397535948 | INPP5K | c.1286T>A (p.Phe429Tyr) c.1058T>A (p.Phe353Tyr) c.*877T>A (n.*877T>A) n.398T>A c.1010T>A (p.Phe337Tyr) c.881T>A (p.Phe294Tyr) | |
17 | g.1496065A>C | CA397535951 | INPP5K | c.1285T>G (p.Phe429Val) c.1057T>G (p.Phe353Val) c.*876T>G (n.*876T>G) n.397T>G c.1009T>G (p.Phe337Val) c.880T>G (p.Phe294Val) | |
17 | g.1496065A>G | CA397535954 | INPP5K | c.1285T>C (p.Phe429Leu) c.1057T>C (p.Phe353Leu) c.*876T>C (n.*876T>C) n.397T>C c.1009T>C (p.Phe337Leu) c.880T>C (p.Phe294Leu) | |
17 | g.1496065A>T | CA397535957 | INPP5K | c.1285T>A (p.Phe429Ile) c.1057T>A (p.Phe353Ile) c.*876T>A (n.*876T>A) n.397T>A c.1009T>A (p.Phe337Ile) c.880T>A (p.Phe294Ile) | |
17 | g.1496066G>A | CA497278606 | INPP5K | c.1284C>T (p.Pro428=) c.1056C>T (p.Pro352=) c.*875C>T (n.*875C>T) n.396C>T c.1008C>T (p.Pro336=) c.879C>T (p.Pro293=) | gnomAD v4 |
17 | g.1496066G>C | CA497278605 | INPP5K | c.1284C>G (p.Pro428=) c.1056C>G (p.Pro352=) c.*875C>G (n.*875C>G) n.396C>G c.1008C>G (p.Pro336=) c.879C>G (p.Pro293=) | |
17 | g.1496066G>T | CA497278604 | INPP5K | c.1284C>A (p.Pro428=) c.1056C>A (p.Pro352=) c.*875C>A (n.*875C>A) n.396C>A c.1008C>A (p.Pro336=) c.879C>A (p.Pro293=) | |
17 | g.1496067G>A | CA397535961 | INPP5K | c.1283C>T (p.Pro428Leu) c.1055C>T (p.Pro352Leu) c.*874C>T (n.*874C>T) n.395C>T c.1007C>T (p.Pro336Leu) c.878C>T (p.Pro293Leu) | |
17 | g.1496067G>C | CA397535964 | INPP5K | c.1283C>G (p.Pro428Arg) c.1055C>G (p.Pro352Arg) c.*874C>G (n.*874C>G) n.395C>G c.1007C>G (p.Pro336Arg) c.878C>G (p.Pro293Arg) | |
17 | g.1496067G>T | CA397535966 | INPP5K | c.1283C>A (p.Pro428His) c.1055C>A (p.Pro352His) c.*874C>A (n.*874C>A) n.395C>A c.1007C>A (p.Pro336His) c.878C>A (p.Pro293His) | gnomAD v4 |
17 | g.1496068G>A | CA286807786 | INPP5K | c.1282C>T (p.Pro428Ser) c.1054C>T (p.Pro352Ser) c.*873C>T (n.*873C>T) n.394C>T c.1006C>T (p.Pro336Ser) c.877C>T (p.Pro293Ser) | dbSNP gnomAD v4 |
17 | g.1496068G>C | CA397535971 | INPP5K | c.1282C>G (p.Pro428Ala) c.1054C>G (p.Pro352Ala) c.*873C>G (n.*873C>G) n.394C>G c.1006C>G (p.Pro336Ala) c.877C>G (p.Pro293Ala) | |
17 | g.1496068G= | CA2242889295 | INPP5K | c.1282C= (p.Pro428=) c.1054C= (p.Pro352=) c.*873C= (n.*873C=) n.394C= c.1006C= (p.Pro336=) c.877C= (p.Pro293=) | |
17 | g.1496068G>T | CA397535974 | INPP5K | c.1282C>A (p.Pro428Thr) c.1054C>A (p.Pro352Thr) c.*873C>A (n.*873C>A) n.394C>A c.1006C>A (p.Pro336Thr) c.877C>A (p.Pro293Thr) | gnomAD v4 |
17 | g.1496069T>A | CA397535976 | INPP5K | c.1281A>T (p.Arg427Ser) c.1053A>T (p.Arg351Ser) c.*872A>T (n.*872A>T) n.393A>T c.1005A>T (p.Arg335Ser) c.876A>T (p.Arg292Ser) | |
17 | g.1496069T>C | CA497278610 | INPP5K | c.1281A>G (p.Arg427=) c.1053A>G (p.Arg351=) c.*872A>G (n.*872A>G) n.393A>G c.1005A>G (p.Arg335=) c.876A>G (p.Arg292=) | dbSNP gnomAD v4 |
17 | g.1496069T>G | CA397535979 | INPP5K | c.1281A>C (p.Arg427Ser) c.1053A>C (p.Arg351Ser) c.*872A>C (n.*872A>C) n.393A>C c.1005A>C (p.Arg335Ser) c.876A>C (p.Arg292Ser) | |
17 | g.1496069T= | CA2242889296 | INPP5K | c.1281A= (p.Arg427=) c.1053A= (p.Arg351=) c.*872A= (n.*872A=) n.393A= c.1005A= (p.Arg335=) c.876A= (p.Arg292=) | |
17 | g.1496070C>A | CA397535992 | INPP5K | c.1280G>T (p.Arg427Ile) c.1052G>T (p.Arg351Ile) c.*871G>T (n.*871G>T) n.392G>T c.1004G>T (p.Arg335Ile) c.875G>T (p.Arg292Ile) | |
17 | g.1496070C>G | CA397535989 | INPP5K | c.1280G>C (p.Arg427Thr) c.1052G>C (p.Arg351Thr) c.*871G>C (n.*871G>C) n.392G>C c.1004G>C (p.Arg335Thr) c.875G>C (p.Arg292Thr) | |
17 | g.1496070C>T | CA397535988 | INPP5K | c.1280G>A (p.Arg427Lys) c.1052G>A (p.Arg351Lys) c.*871G>A (n.*871G>A) n.392G>A c.1004G>A (p.Arg335Lys) c.875G>A (p.Arg292Lys) | |
17 | g.1496071T>A | CA397536000 | INPP5K | c.1279A>T (p.Arg427Ter) c.1051A>T (p.Arg351Ter) c.*870A>T (n.*870A>T) n.391A>T c.1003A>T (p.Arg335Ter) c.874A>T (p.Arg292Ter) | |
17 | g.1496071T>C | CA8268307 | INPP5K | c.1279A>G (p.Arg427Gly) c.1051A>G (p.Arg351Gly) c.*870A>G (n.*870A>G) n.391A>G c.1003A>G (p.Arg335Gly) c.874A>G (p.Arg292Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496071T>G | CA497278611 | INPP5K | c.1279A>C (p.Arg427=) c.1051A>C (p.Arg351=) c.*870A>C (n.*870A>C) n.391A>C c.1003A>C (p.Arg335=) c.874A>C (p.Arg292=) | |
17 | g.1496071T= | CA2242889297 | INPP5K | c.1279A= (p.Arg427=) c.1051A= (p.Arg351=) c.*870A= (n.*870A=) n.391A= c.1003A= (p.Arg335=) c.874A= (p.Arg292=) | |
17 | g.1496072G>A | CA497278614 | INPP5K | c.1278C>T (p.Ser426=) c.1050C>T (p.Ser350=) c.*869C>T (n.*869C>T) n.390C>T c.1002C>T (p.Ser334=) c.873C>T (p.Ser291=) | |
17 | g.1496072G>C | CA397536005 | INPP5K | c.1278C>G (p.Ser426Arg) c.1050C>G (p.Ser350Arg) c.*869C>G (n.*869C>G) n.390C>G c.1002C>G (p.Ser334Arg) c.873C>G (p.Ser291Arg) | |
17 | g.1496072G= | CA2242889298 | INPP5K | c.1278C= (p.Ser426=) c.1050C= (p.Ser350=) c.*869C= (n.*869C=) n.390C= c.1002C= (p.Ser334=) c.873C= (p.Ser291=) | |
17 | g.1496072G>T | CA286807811 | INPP5K | c.1278C>A (p.Ser426Arg) c.1050C>A (p.Ser350Arg) c.*869C>A (n.*869C>A) n.390C>A c.1002C>A (p.Ser334Arg) c.873C>A (p.Ser291Arg) | dbSNP gnomAD v4 |
17 | g.1496073C>A | CA397536008 | INPP5K | c.1277G>T (p.Ser426Ile) c.1049G>T (p.Ser350Ile) c.*868G>T (n.*868G>T) n.389G>T c.1001G>T (p.Ser334Ile) c.872G>T (p.Ser291Ile) | COSMIC COSMIC |
17 | g.1496073C= | CA2242889299 | INPP5K | c.1277G= (p.Ser426=) c.1049G= (p.Ser350=) c.*868G= (n.*868G=) n.389G= c.1001G= (p.Ser334=) c.872G= (p.Ser291=) | |
17 | g.1496073C>G | CA286807814 | INPP5K | c.1277G>C (p.Ser426Thr) c.1049G>C (p.Ser350Thr) c.*868G>C (n.*868G>C) n.389G>C c.1001G>C (p.Ser334Thr) c.872G>C (p.Ser291Thr) | dbSNP gnomAD v4 |
17 | g.1496073C>T | CA397536012 | INPP5K | c.1277G>A (p.Ser426Asn) c.1049G>A (p.Ser350Asn) c.*868G>A (n.*868G>A) n.389G>A c.1001G>A (p.Ser334Asn) c.872G>A (p.Ser291Asn) | gnomAD v4 |
17 | g.1496074T>A | CA397536015 | INPP5K | c.1276A>T (p.Ser426Cys) c.1048A>T (p.Ser350Cys) c.*867A>T (n.*867A>T) n.388A>T c.1000A>T (p.Ser334Cys) c.871A>T (p.Ser291Cys) | |
17 | g.1496074T>C | CA397536017 | INPP5K | c.1276A>G (p.Ser426Gly) c.1048A>G (p.Ser350Gly) c.*867A>G (n.*867A>G) n.388A>G c.1000A>G (p.Ser334Gly) c.871A>G (p.Ser291Gly) | |
17 | g.1496074T>G | CA397536019 | INPP5K | c.1276A>C (p.Ser426Arg) c.1048A>C (p.Ser350Arg) c.*867A>C (n.*867A>C) n.388A>C c.1000A>C (p.Ser334Arg) c.871A>C (p.Ser291Arg) | |
17 | g.1496075T>A | CA497278616 | INPP5K | c.1275A>T (p.Ile425=) c.1047A>T (p.Ile349=) c.*866A>T (n.*866A>T) n.387A>T c.999A>T (p.Ile333=) c.870A>T (p.Ile290=) | |
17 | g.1496075T>C | CA397536023 | INPP5K | c.1275A>G (p.Ile425Met) c.1047A>G (p.Ile349Met) c.*866A>G (n.*866A>G) n.387A>G c.999A>G (p.Ile333Met) c.870A>G (p.Ile290Met) | |
17 | g.1496075T>G | CA497278617 | INPP5K | c.1275A>C (p.Ile425=) c.1047A>C (p.Ile349=) c.*866A>C (n.*866A>C) n.387A>C c.999A>C (p.Ile333=) c.870A>C (p.Ile290=) | |
17 | g.1496076A= | CA2242889300 | INPP5K | c.1274T= (p.Ile425=) c.1046T= (p.Ile349=) c.*865T= (n.*865T=) n.386T= c.998T= (p.Ile333=) c.869T= (p.Ile290=) | |
17 | g.1496076A>C | CA397536027 | INPP5K | c.1274T>G (p.Ile425Arg) c.1046T>G (p.Ile349Arg) c.*865T>G (n.*865T>G) n.386T>G c.998T>G (p.Ile333Arg) c.869T>G (p.Ile290Arg) | |
17 | g.1496076A>G | CA8268308 | INPP5K | c.1274T>C (p.Ile425Thr) c.1046T>C (p.Ile349Thr) c.*865T>C (n.*865T>C) n.386T>C c.998T>C (p.Ile333Thr) c.869T>C (p.Ile290Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496076A>T | CA397536029 | INPP5K | c.1274T>A (p.Ile425Lys) c.1046T>A (p.Ile349Lys) c.*865T>A (n.*865T>A) n.386T>A c.998T>A (p.Ile333Lys) c.869T>A (p.Ile290Lys) | dbSNP gnomAD v4 |
17 | g.1496077T>A | CA397536039 | INPP5K | c.1273A>T (p.Ile425Leu) c.1045A>T (p.Ile349Leu) c.*864A>T (n.*864A>T) n.385A>T c.997A>T (p.Ile333Leu) c.868A>T (p.Ile290Leu) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1496077T>C | CA397536036 | INPP5K | c.1273A>G (p.Ile425Val) c.1045A>G (p.Ile349Val) c.*864A>G (n.*864A>G) n.385A>G c.997A>G (p.Ile333Val) c.868A>G (p.Ile290Val) | dbSNP gnomAD v4 |
17 | g.1496077T>G | CA397536033 | INPP5K | c.1273A>C (p.Ile425Leu) c.1045A>C (p.Ile349Leu) c.*864A>C (n.*864A>C) n.385A>C c.997A>C (p.Ile333Leu) c.868A>C (p.Ile290Leu) | |
17 | g.1496077T= | CA2242889301 | INPP5K | c.1273A= (p.Ile425=) c.1045A= (p.Ile349=) c.*864A= (n.*864A=) n.385A= c.997A= (p.Ile333=) c.868A= (p.Ile290=) | |
17 | g.1496078C>A | CA497278621 | INPP5K | c.1272G>T (p.Gly424=) c.1044G>T (p.Gly348=) c.*863G>T (n.*863G>T) n.384G>T c.996G>T (p.Gly332=) c.867G>T (p.Gly289=) | |
17 | g.1496078C= | CA2242889302 | INPP5K | c.1272G= (p.Gly424=) c.1044G= (p.Gly348=) c.*863G= (n.*863G=) n.384G= c.996G= (p.Gly332=) c.867G= (p.Gly289=) | |
17 | g.1496078C>G | CA497278622 | INPP5K | c.1272G>C (p.Gly424=) c.1044G>C (p.Gly348=) c.*863G>C (n.*863G>C) n.384G>C c.996G>C (p.Gly332=) c.867G>C (p.Gly289=) | |
17 | g.1496078C>T | CA497278623 | INPP5K | c.1272G>A (p.Gly424=) c.1044G>A (p.Gly348=) c.*863G>A (n.*863G>A) n.384G>A c.996G>A (p.Gly332=) c.867G>A (p.Gly289=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1496079C>A | CA397536043 | INPP5K | c.1271G>T (p.Gly424Val) c.1043G>T (p.Gly348Val) c.*862G>T (n.*862G>T) n.383G>T c.995G>T (p.Gly332Val) c.866G>T (p.Gly289Val) | |
17 | g.1496079C>G | CA397536046 | INPP5K | c.1271G>C (p.Gly424Ala) c.1043G>C (p.Gly348Ala) c.*862G>C (n.*862G>C) n.383G>C c.995G>C (p.Gly332Ala) c.866G>C (p.Gly289Ala) | |
17 | g.1496079C>T | CA397536047 | INPP5K | c.1271G>A (p.Gly424Glu) c.1043G>A (p.Gly348Glu) c.*862G>A (n.*862G>A) n.383G>A c.995G>A (p.Gly332Glu) c.866G>A (p.Gly289Glu) | |
17 | g.1496080C>A | CA397536050 | INPP5K | c.1270G>T (p.Gly424Trp) c.1042G>T (p.Gly348Trp) c.*861G>T (n.*861G>T) n.382G>T c.994G>T (p.Gly332Trp) c.865G>T (p.Gly289Trp) | gnomAD v4 |
17 | g.1496080C>G | CA397536052 | INPP5K | c.1270G>C (p.Gly424Arg) c.1042G>C (p.Gly348Arg) c.*861G>C (n.*861G>C) n.382G>C c.994G>C (p.Gly332Arg) c.865G>C (p.Gly289Arg) | |
17 | g.1496080C>T | CA397536055 | INPP5K | c.1270G>A (p.Gly424Arg) c.1042G>A (p.Gly348Arg) c.*861G>A (n.*861G>A) n.382G>A c.994G>A (p.Gly332Arg) c.865G>A (p.Gly289Arg) | |
17 | g.1496081C>A | CA497278627 | INPP5K | c.1269G>T (p.Val423=) c.1041G>T (p.Val347=) c.*860G>T (n.*860G>T) n.381G>T c.993G>T (p.Val331=) c.864G>T (p.Val288=) | gnomAD v4 |
17 | g.1496081C= | CA2242889303 | INPP5K | c.1269G= (p.Val423=) c.1041G= (p.Val347=) c.*860G= (n.*860G=) n.381G= c.993G= (p.Val331=) c.864G= (p.Val288=) | |
17 | g.1496081C>G | CA497278629 | INPP5K | c.1269G>C (p.Val423=) c.1041G>C (p.Val347=) c.*860G>C (n.*860G>C) n.381G>C c.993G>C (p.Val331=) c.864G>C (p.Val288=) | |
17 | g.1496081C>T | CA8268309 | INPP5K | c.1269G>A (p.Val423=) c.1041G>A (p.Val347=) c.*860G>A (n.*860G>A) n.381G>A c.993G>A (p.Val331=) c.864G>A (p.Val288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496082A>C | CA397536059 | INPP5K | c.1268T>G (p.Val423Gly) c.1040T>G (p.Val347Gly) c.*859T>G (n.*859T>G) n.380T>G c.992T>G (p.Val331Gly) c.863T>G (p.Val288Gly) | |
17 | g.1496082A>G | CA397536063 | INPP5K | c.1268T>C (p.Val423Ala) c.1040T>C (p.Val347Ala) c.*859T>C (n.*859T>C) n.380T>C c.992T>C (p.Val331Ala) c.863T>C (p.Val288Ala) | |
17 | g.1496082A>T | CA397536061 | INPP5K | c.1268T>A (p.Val423Glu) c.1040T>A (p.Val347Glu) c.*859T>A (n.*859T>A) n.380T>A c.992T>A (p.Val331Glu) c.863T>A (p.Val288Glu) | |
17 | g.1496083C>A | CA397536066 | INPP5K | c.1267G>T (p.Val423Leu) c.1039G>T (p.Val347Leu) c.*858G>T (n.*858G>T) n.379G>T c.991G>T (p.Val331Leu) c.862G>T (p.Val288Leu) | |
17 | g.1496083C= | CA2242889304 | INPP5K | c.1267G= (p.Val423=) c.1039G= (p.Val347=) c.*858G= (n.*858G=) n.379G= c.991G= (p.Val331=) c.862G= (p.Val288=) | |
17 | g.1496083C>G | CA397536068 | INPP5K | c.1267G>C (p.Val423Leu) c.1039G>C (p.Val347Leu) c.*858G>C (n.*858G>C) n.379G>C c.991G>C (p.Val331Leu) c.862G>C (p.Val288Leu) | |
17 | g.1496083C>T | CA286807823 | INPP5K | c.1267G>A (p.Val423Met) c.1039G>A (p.Val347Met) c.*858G>A (n.*858G>A) n.379G>A c.991G>A (p.Val331Met) c.862G>A (p.Val288Met) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1496084C>A | CA286807828 | INPP5K | c.1266G>T (p.Val422=) c.1038G>T (p.Val346=) c.*857G>T (n.*857G>T) n.378G>T c.990G>T (p.Val330=) c.861G>T (p.Val287=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1496084C= | CA2242889305 | INPP5K | c.1266G= (p.Val422=) c.1038G= (p.Val346=) c.*857G= (n.*857G=) n.378G= c.990G= (p.Val330=) c.861G= (p.Val287=) | |
17 | g.1496084C>G | CA497278632 | INPP5K | c.1266G>C (p.Val422=) c.1038G>C (p.Val346=) c.*857G>C (n.*857G>C) n.378G>C c.990G>C (p.Val330=) c.861G>C (p.Val287=) | |
17 | g.1496084C>T | CA497278633 | INPP5K | c.1266G>A (p.Val422=) c.1038G>A (p.Val346=) c.*857G>A (n.*857G>A) n.378G>A c.990G>A (p.Val330=) c.861G>A (p.Val287=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1496085A>C | CA397536078 | INPP5K | c.1265T>G (p.Val422Gly) c.1037T>G (p.Val346Gly) c.*856T>G (n.*856T>G) n.377T>G c.989T>G (p.Val330Gly) c.860T>G (p.Val287Gly) | |
17 | g.1496085A>G | CA397536073 | INPP5K | c.1265T>C (p.Val422Ala) c.1037T>C (p.Val346Ala) c.*856T>C (n.*856T>C) n.377T>C c.989T>C (p.Val330Ala) c.860T>C (p.Val287Ala) | |
17 | g.1496085A>T | CA397536076 | INPP5K | c.1265T>A (p.Val422Glu) c.1037T>A (p.Val346Glu) c.*856T>A (n.*856T>A) n.377T>A c.989T>A (p.Val330Glu) c.860T>A (p.Val287Glu) | |
17 | g.1496086C>A | CA397536081 | INPP5K | c.1264G>T (p.Val422Leu) c.1036G>T (p.Val346Leu) c.*855G>T (n.*855G>T) n.376G>T c.988G>T (p.Val330Leu) c.859G>T (p.Val287Leu) | |
17 | g.1496086C= | CA2242889306 | INPP5K | c.1264G= (p.Val422=) c.1036G= (p.Val346=) c.*855G= (n.*855G=) n.376G= c.988G= (p.Val330=) c.859G= (p.Val287=) | |
17 | g.1496086C>G | CA397536084 | INPP5K | c.1264G>C (p.Val422Leu) c.1036G>C (p.Val346Leu) c.*855G>C (n.*855G>C) n.376G>C c.988G>C (p.Val330Leu) c.859G>C (p.Val287Leu) | |
17 | g.1496086C>T | CA8268310 | INPP5K | c.1264G>A (p.Val422Met) c.1036G>A (p.Val346Met) c.*855G>A (n.*855G>A) n.376G>A c.988G>A (p.Val330Met) c.859G>A (p.Val287Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496087A>C | CA497278639 | INPP5K | c.1263T>G (p.Ser421=) c.1035T>G (p.Ser345=) c.*854T>G (n.*854T>G) n.375T>G c.987T>G (p.Ser329=) c.858T>G (p.Ser286=) | |
17 | g.1496087A>G | CA497278638 | INPP5K | c.1263T>C (p.Ser421=) c.1035T>C (p.Ser345=) c.*854T>C (n.*854T>C) n.375T>C c.987T>C (p.Ser329=) c.858T>C (p.Ser286=) | |
17 | g.1496087A>T | CA497278637 | INPP5K | c.1263T>A (p.Ser421=) c.1035T>A (p.Ser345=) c.*854T>A (n.*854T>A) n.375T>A c.987T>A (p.Ser329=) c.858T>A (p.Ser286=) | |
17 | g.1496088G>A | CA397536089 | INPP5K | c.1262C>T (p.Ser421Phe) c.1034C>T (p.Ser345Phe) c.*853C>T (n.*853C>T) n.374C>T c.986C>T (p.Ser329Phe) c.857C>T (p.Ser286Phe) | |
17 | g.1496088G>C | CA397536091 | INPP5K | c.1262C>G (p.Ser421Cys) c.1034C>G (p.Ser345Cys) c.*853C>G (n.*853C>G) n.374C>G c.986C>G (p.Ser329Cys) c.857C>G (p.Ser286Cys) | |
17 | g.1496088G>T | CA397536092 | INPP5K | c.1262C>A (p.Ser421Tyr) c.1034C>A (p.Ser345Tyr) c.*853C>A (n.*853C>A) n.374C>A c.986C>A (p.Ser329Tyr) c.857C>A (p.Ser286Tyr) | |
17 | g.1496089A>C | CA397536094 | INPP5K | c.1261T>G (p.Ser421Ala) c.1033T>G (p.Ser345Ala) c.*852T>G (n.*852T>G) n.373T>G c.985T>G (p.Ser329Ala) c.856T>G (p.Ser286Ala) | |
17 | g.1496089A>G | CA397536097 | INPP5K | c.1261T>C (p.Ser421Pro) c.1033T>C (p.Ser345Pro) c.*852T>C (n.*852T>C) n.373T>C c.985T>C (p.Ser329Pro) c.856T>C (p.Ser286Pro) | |
17 | g.1496089A>T | CA397536099 | INPP5K | c.1261T>A (p.Ser421Thr) c.1033T>A (p.Ser345Thr) c.*852T>A (n.*852T>A) n.373T>A c.985T>A (p.Ser329Thr) c.856T>A (p.Ser286Thr) | |
17 | g.1496090A>C | CA497278643 | INPP5K | c.1260T>G (p.Arg420=) c.1032T>G (p.Arg344=) c.*851T>G (n.*851T>G) n.372T>G c.984T>G (p.Arg328=) c.855T>G (p.Arg285=) | |
17 | g.1496090A>G | CA497278644 | INPP5K | c.1260T>C (p.Arg420=) c.1032T>C (p.Arg344=) c.*851T>C (n.*851T>C) n.372T>C c.984T>C (p.Arg328=) c.855T>C (p.Arg285=) | |
17 | g.1496090A>T | CA497278645 | INPP5K | c.1260T>A (p.Arg420=) c.1032T>A (p.Arg344=) c.*851T>A (n.*851T>A) n.372T>A c.984T>A (p.Arg328=) c.855T>A (p.Arg285=) | |
17 | g.1496091C>A | CA397536102 | INPP5K | c.1259G>T (p.Arg420Leu) c.1031G>T (p.Arg344Leu) c.*850G>T (n.*850G>T) n.371G>T c.983G>T (p.Arg328Leu) c.854G>T (p.Arg285Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496091C= | CA2242889307 | INPP5K | c.1259G= (p.Arg420=) c.1031G= (p.Arg344=) c.*850G= (n.*850G=) n.371G= c.983G= (p.Arg328=) c.854G= (p.Arg285=) | |
17 | g.1496091C>G | CA397536103 | INPP5K | c.1259G>C (p.Arg420Pro) c.1031G>C (p.Arg344Pro) c.*850G>C (n.*850G>C) n.371G>C c.983G>C (p.Arg328Pro) c.854G>C (p.Arg285Pro) | |
17 | g.1496091C>T | CA8268311 | INPP5K | c.1259G>A (p.Arg420His) c.1031G>A (p.Arg344His) c.*850G>A (n.*850G>A) n.371G>A c.983G>A (p.Arg328His) c.854G>A (p.Arg285His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.1496092G>A | CA8268312 | INPP5K | c.1258C>T (p.Arg420Cys) c.1030C>T (p.Arg344Cys) c.*849C>T (n.*849C>T) n.370C>T c.982C>T (p.Arg328Cys) c.853C>T (p.Arg285Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.1496092G>C | CA397536107 | INPP5K | c.1258C>G (p.Arg420Gly) c.1030C>G (p.Arg344Gly) c.*849C>G (n.*849C>G) n.370C>G c.982C>G (p.Arg328Gly) c.853C>G (p.Arg285Gly) | |
17 | g.1496092G= | CA2242889308 | INPP5K | c.1258C= (p.Arg420=) c.1030C= (p.Arg344=) c.*849C= (n.*849C=) n.370C= c.982C= (p.Arg328=) c.853C= (p.Arg285=) | |
17 | g.1496092G>T | CA397536105 | INPP5K | c.1258C>A (p.Arg420Ser) c.1030C>A (p.Arg344Ser) c.*849C>A (n.*849C>A) n.370C>A c.982C>A (p.Arg328Ser) c.853C>A (p.Arg285Ser) | |
17 | g.1496093C>A | CA497278649 | INPP5K | c.1257G>T (p.Leu419=) c.1029G>T (p.Leu343=) c.*848G>T (n.*848G>T) n.369G>T c.981G>T (p.Leu327=) c.852G>T (p.Leu284=) | |
17 | g.1496093C= | CA2242889309 | INPP5K | c.1257G= (p.Leu419=) c.1029G= (p.Leu343=) c.*848G= (n.*848G=) n.369G= c.981G= (p.Leu327=) c.852G= (p.Leu284=) | |
17 | g.1496093C>G | CA497278650 | INPP5K | c.1257G>C (p.Leu419=) c.1029G>C (p.Leu343=) c.*848G>C (n.*848G>C) n.369G>C c.981G>C (p.Leu327=) c.852G>C (p.Leu284=) | |
17 | g.1496093C>T | CA497278651 | INPP5K | c.1257G>A (p.Leu419=) c.1029G>A (p.Leu343=) c.*848G>A (n.*848G>A) n.369G>A c.981G>A (p.Leu327=) c.852G>A (p.Leu284=) | dbSNP |
17 | g.1496094A= | CA2242889310 | INPP5K | c.1256T= (p.Leu419=) c.1028T= (p.Leu343=) c.*847T= (n.*847T=) n.368T= c.980T= (p.Leu327=) c.851T= (p.Leu284=) | |
17 | g.1496094A>C | CA397536109 | INPP5K | c.1256T>G (p.Leu419Arg) c.1028T>G (p.Leu343Arg) c.*847T>G (n.*847T>G) n.368T>G c.980T>G (p.Leu327Arg) c.851T>G (p.Leu284Arg) | |
17 | g.1496094A>G | CA397536117 | INPP5K | c.1256T>C (p.Leu419Pro) c.1028T>C (p.Leu343Pro) c.*847T>C (n.*847T>C) n.368T>C c.980T>C (p.Leu327Pro) c.851T>C (p.Leu284Pro) | |
17 | g.1496094A>T | CA397536111 | INPP5K | c.1256T>A (p.Leu419Gln) c.1028T>A (p.Leu343Gln) c.*847T>A (n.*847T>A) n.368T>A c.980T>A (p.Leu327Gln) c.851T>A (p.Leu284Gln) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1496095G>A | CA497278655 | INPP5K | c.1255C>T (p.Leu419=) c.1027C>T (p.Leu343=) c.*846C>T (n.*846C>T) n.367C>T c.979C>T (p.Leu327=) c.850C>T (p.Leu284=) | gnomAD v4 |
17 | g.1496095G>C | CA397536120 | INPP5K | c.1255C>G (p.Leu419Val) c.1027C>G (p.Leu343Val) c.*846C>G (n.*846C>G) n.367C>G c.979C>G (p.Leu327Val) c.850C>G (p.Leu284Val) | |
17 | g.1496095G>T | CA397536122 | INPP5K | c.1255C>A (p.Leu419Met) c.1027C>A (p.Leu343Met) c.*846C>A (n.*846C>A) n.367C>A c.979C>A (p.Leu327Met) c.850C>A (p.Leu284Met) | |
17 | g.1496096A>C | CA397536126 | INPP5K | c.1254T>G (p.Ser418Arg) c.1026T>G (p.Ser342Arg) c.*845T>G (n.*845T>G) n.366T>G c.978T>G (p.Ser326Arg) c.849T>G (p.Ser283Arg) | |
17 | g.1496096A>G | CA497278656 | INPP5K | c.1254T>C (p.Ser418=) c.1026T>C (p.Ser342=) c.*845T>C (n.*845T>C) n.366T>C c.978T>C (p.Ser326=) c.849T>C (p.Ser283=) | |
17 | g.1496096A>T | CA397536128 | INPP5K | c.1254T>A (p.Ser418Arg) c.1026T>A (p.Ser342Arg) c.*845T>A (n.*845T>A) n.366T>A c.978T>A (p.Ser326Arg) c.849T>A (p.Ser283Arg) | |
17 | g.1496097C>A | CA397536132 | INPP5K | c.1253G>T (p.Ser418Ile) c.1025G>T (p.Ser342Ile) c.*844G>T (n.*844G>T) n.365G>T c.977G>T (p.Ser326Ile) c.848G>T (p.Ser283Ile) | |
17 | g.1496097C>G | CA397536135 | INPP5K | c.1253G>C (p.Ser418Thr) c.1025G>C (p.Ser342Thr) c.*844G>C (n.*844G>C) n.365G>C c.977G>C (p.Ser326Thr) c.848G>C (p.Ser283Thr) | |
17 | g.1496097C>T | CA397536137 | INPP5K | c.1253G>A (p.Ser418Asn) c.1025G>A (p.Ser342Asn) c.*844G>A (n.*844G>A) n.365G>A c.977G>A (p.Ser326Asn) c.848G>A (p.Ser283Asn) | gnomAD v4 COSMIC COSMIC |
17 | g.1496097_1496099delinsCTG | CA2242889311 | INPP5K | c.1251_1253delinsCAG (p.Asn417=) c.1023_1025delinsCAG (p.Asn341=) c.*842_*844delinsCAG (n.*842_*844delinsCAG) n.363_365delinsCAG c.975_977delinsCAG (p.Asn325=) c.846_848delinsCAG (p.Asn282=) | |
17 | g.1496098T>A | CA397536141 | INPP5K | c.1252A>T (p.Ser418Cys) c.1024A>T (p.Ser342Cys) c.*843A>T (n.*843A>T) n.364A>T c.976A>T (p.Ser326Cys) c.847A>T (p.Ser283Cys) | |
17 | g.1496098T>C | CA397536143 | INPP5K | c.1252A>G (p.Ser418Gly) c.1024A>G (p.Ser342Gly) c.*843A>G (n.*843A>G) n.364A>G c.976A>G (p.Ser326Gly) c.847A>G (p.Ser283Gly) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1496098T>G | CA397536147 | INPP5K | c.1252A>C (p.Ser418Arg) c.1024A>C (p.Ser342Arg) c.*843A>C (n.*843A>C) n.364A>C c.976A>C (p.Ser326Arg) c.847A>C (p.Ser283Arg) | |
17 | g.1496098T= | CA2242889312 | INPP5K | c.1252A= (p.Ser418=) c.1024A= (p.Ser342=) c.*843A= (n.*843A=) n.364A= c.976A= (p.Ser326=) c.847A= (p.Ser283=) | |
17 | g.1496099_1496100del | CA16609679 | INPP5K | c.1251_1252del (p.Asn417LysfsTer26) c.1023_1024del (p.Asn341LysfsTer26) c.*842_*843del (n.*842_*843del) n.363_364del c.975_976del (p.Asn325LysfsTer26) c.846_847del (p.Asn282LysfsTer26) | ClinVar dbSNP |
17 | g.1496099G>A | CA497278660 | INPP5K | c.1251C>T (p.Asn417=) c.1023C>T (p.Asn341=) c.*842C>T (n.*842C>T) n.363C>T c.975C>T (p.Asn325=) c.846C>T (p.Asn282=) | |
17 | g.1496099G>C | CA397536150 | INPP5K | c.1251C>G (p.Asn417Lys) c.1023C>G (p.Asn341Lys) c.*842C>G (n.*842C>G) n.363C>G c.975C>G (p.Asn325Lys) c.846C>G (p.Asn282Lys) | |
17 | g.1496099G= | CA2242889313 | INPP5K | c.1251C= (p.Asn417=) c.1023C= (p.Asn341=) c.*842C= (n.*842C=) n.363C= c.975C= (p.Asn325=) c.846C= (p.Asn282=) | |
17 | g.1496099G>T | CA397536153 | INPP5K | c.1251C>A (p.Asn417Lys) c.1023C>A (p.Asn341Lys) c.*842C>A (n.*842C>A) n.363C>A c.975C>A (p.Asn325Lys) c.846C>A (p.Asn282Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496100T>A | CA397536160 | INPP5K | c.1250A>T (p.Asn417Ile) c.1022A>T (p.Asn341Ile) c.*841A>T (n.*841A>T) n.362A>T c.974A>T (p.Asn325Ile) c.845A>T (p.Asn282Ile) | |
17 | g.1496100T>C | CA397536155 | INPP5K | c.1250A>G (p.Asn417Ser) c.1022A>G (p.Asn341Ser) c.*841A>G (n.*841A>G) n.362A>G c.974A>G (p.Asn325Ser) c.845A>G (p.Asn282Ser) | gnomAD v4 |
17 | g.1496100T>G | CA397536158 | INPP5K | c.1250A>C (p.Asn417Thr) c.1022A>C (p.Asn341Thr) c.*841A>C (n.*841A>C) n.362A>C c.974A>C (p.Asn325Thr) c.845A>C (p.Asn282Thr) | |
17 | g.1496101T>A | CA397536163 | INPP5K | c.1249A>T (p.Asn417Tyr) c.1021A>T (p.Asn341Tyr) c.*840A>T (n.*840A>T) n.361A>T c.973A>T (p.Asn325Tyr) c.844A>T (p.Asn282Tyr) | |
17 | g.1496101T>C | CA397536164 | INPP5K | c.1249A>G (p.Asn417Asp) c.1021A>G (p.Asn341Asp) c.*840A>G (n.*840A>G) n.361A>G c.973A>G (p.Asn325Asp) c.844A>G (p.Asn282Asp) | |
17 | g.1496101T>G | CA397536165 | INPP5K | c.1249A>C (p.Asn417His) c.1021A>C (p.Asn341His) c.*840A>C (n.*840A>C) n.361A>C c.973A>C (p.Asn325His) c.844A>C (p.Asn282His) | |
17 | g.1496102G>A | CA497278664 | INPP5K | c.1248C>T (p.Ser416=) c.1020C>T (p.Ser340=) c.*839C>T (n.*839C>T) n.360C>T c.972C>T (p.Ser324=) c.843C>T (p.Ser281=) | |
17 | g.1496102G>C | CA397536166 | INPP5K | c.1248C>G (p.Ser416Arg) c.1020C>G (p.Ser340Arg) c.*839C>G (n.*839C>G) n.360C>G c.972C>G (p.Ser324Arg) c.843C>G (p.Ser281Arg) | |
17 | g.1496102G>T | CA286807829 | INPP5K | c.1248C>A (p.Ser416Arg) c.1020C>A (p.Ser340Arg) c.*839C>A (n.*839C>A) n.360C>A c.972C>A (p.Ser324Arg) c.843C>A (p.Ser281Arg) | |
17 | g.1496103C>A | CA397536168 | INPP5K | c.1247G>T (p.Ser416Ile) c.1019G>T (p.Ser340Ile) c.*838G>T (n.*838G>T) n.359G>T c.971G>T (p.Ser324Ile) c.842G>T (p.Ser281Ile) | |
17 | g.1496103C= | CA2242889314 | INPP5K | c.1247G= (p.Ser416=) c.1019G= (p.Ser340=) c.*838G= (n.*838G=) n.359G= c.971G= (p.Ser324=) c.842G= (p.Ser281=) | |
17 | g.1496103C>G | CA8268313 | INPP5K | c.1247G>C (p.Ser416Thr) c.1019G>C (p.Ser340Thr) c.*838G>C (n.*838G>C) n.359G>C c.971G>C (p.Ser324Thr) c.842G>C (p.Ser281Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496103C>T | CA397536170 | INPP5K | c.1247G>A (p.Ser416Asn) c.1019G>A (p.Ser340Asn) c.*838G>A (n.*838G>A) n.359G>A c.971G>A (p.Ser324Asn) c.842G>A (p.Ser281Asn) | |
17 | g.1496104T>A | CA397536171 | INPP5K | c.1246A>T (p.Ser416Cys) c.1018A>T (p.Ser340Cys) c.*837A>T (n.*837A>T) n.358A>T c.970A>T (p.Ser324Cys) c.841A>T (p.Ser281Cys) | |
17 | g.1496104T>C | CA397536172 | INPP5K | c.1246A>G (p.Ser416Gly) c.1018A>G (p.Ser340Gly) c.*837A>G (n.*837A>G) n.358A>G c.970A>G (p.Ser324Gly) c.841A>G (p.Ser281Gly) | |
17 | g.1496104T>G | CA397536173 | INPP5K | c.1246A>C (p.Ser416Arg) c.1018A>C (p.Ser340Arg) c.*837A>C (n.*837A>C) n.358A>C c.970A>C (p.Ser324Arg) c.841A>C (p.Ser281Arg) | |
17 | g.1496105G>A | CA8268314 | INPP5K | c.1245C>T (p.Tyr415=) c.1017C>T (p.Tyr339=) c.*836C>T (n.*836C>T) n.357C>T c.969C>T (p.Tyr323=) c.840C>T (p.Tyr280=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496105G>C | CA397536177 | INPP5K | c.1245C>G (p.Tyr415Ter) c.1017C>G (p.Tyr339Ter) c.*836C>G (n.*836C>G) n.357C>G c.969C>G (p.Tyr323Ter) c.840C>G (p.Tyr280Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496105G= | CA2242889315 | INPP5K | c.1245C= (p.Tyr415=) c.1017C= (p.Tyr339=) c.*836C= (n.*836C=) n.357C= c.969C= (p.Tyr323=) c.840C= (p.Tyr280=) | |
17 | g.1496105G>T | CA397536174 | INPP5K | c.1245C>A (p.Tyr415Ter) c.1017C>A (p.Tyr339Ter) c.*836C>A (n.*836C>A) n.357C>A c.969C>A (p.Tyr323Ter) c.840C>A (p.Tyr280Ter) | |
17 | g.1496106T>A | CA397536180 | INPP5K | c.1244A>T (p.Tyr415Phe) c.1016A>T (p.Tyr339Phe) c.*835A>T (n.*835A>T) n.356A>T c.968A>T (p.Tyr323Phe) c.839A>T (p.Tyr280Phe) | |
17 | g.1496106T>C | CA397536182 | INPP5K | c.1244A>G (p.Tyr415Cys) c.1016A>G (p.Tyr339Cys) c.*835A>G (n.*835A>G) n.356A>G c.968A>G (p.Tyr323Cys) c.839A>G (p.Tyr280Cys) | |
17 | g.1496106T>G | CA397536184 | INPP5K | c.1244A>C (p.Tyr415Ser) c.1016A>C (p.Tyr339Ser) c.*835A>C (n.*835A>C) n.356A>C c.968A>C (p.Tyr323Ser) c.839A>C (p.Tyr280Ser) | |
17 | g.1496107A>C | CA397536186 | INPP5K | c.1243T>G (p.Tyr415Asp) c.1015T>G (p.Tyr339Asp) c.*834T>G (n.*834T>G) n.355T>G c.967T>G (p.Tyr323Asp) c.838T>G (p.Tyr280Asp) | |
17 | g.1496107A>G | CA397536189 | INPP5K | c.1243T>C (p.Tyr415His) c.1015T>C (p.Tyr339His) c.*834T>C (n.*834T>C) n.355T>C c.967T>C (p.Tyr323His) c.838T>C (p.Tyr280His) | |
17 | g.1496107A>T | CA397536192 | INPP5K | c.1243T>A (p.Tyr415Asn) c.1015T>A (p.Tyr339Asn) c.*834T>A (n.*834T>A) n.355T>A c.967T>A (p.Tyr323Asn) c.838T>A (p.Tyr280Asn) | |
17 | g.1496108G>A | CA497278671 | INPP5K | c.1242C>T (p.Tyr414=) c.1014C>T (p.Tyr338=) c.*833C>T (n.*833C>T) n.354C>T c.966C>T (p.Tyr322=) c.837C>T (p.Tyr279=) | |
17 | g.1496108G>C | CA397536196 | INPP5K | c.1242C>G (p.Tyr414Ter) c.1014C>G (p.Tyr338Ter) c.*833C>G (n.*833C>G) n.354C>G c.966C>G (p.Tyr322Ter) c.837C>G (p.Tyr279Ter) | |
17 | g.1496108G>T | CA397536197 | INPP5K | c.1242C>A (p.Tyr414Ter) c.1014C>A (p.Tyr338Ter) c.*833C>A (n.*833C>A) n.354C>A c.966C>A (p.Tyr322Ter) c.837C>A (p.Tyr279Ter) | |
17 | g.1496109T>A | CA397536199 | INPP5K | c.1241A>T (p.Tyr414Phe) c.1013A>T (p.Tyr338Phe) c.*832A>T (n.*832A>T) n.353A>T c.965A>T (p.Tyr322Phe) c.836A>T (p.Tyr279Phe) | |
17 | g.1496109T>C | CA397536202 | INPP5K | c.1241A>G (p.Tyr414Cys) c.1013A>G (p.Tyr338Cys) c.*832A>G (n.*832A>G) n.353A>G c.965A>G (p.Tyr322Cys) c.836A>G (p.Tyr279Cys) | |
17 | g.1496109T>G | CA397536205 | INPP5K | c.1241A>C (p.Tyr414Ser) c.1013A>C (p.Tyr338Ser) c.*832A>C (n.*832A>C) n.353A>C c.965A>C (p.Tyr322Ser) c.836A>C (p.Tyr279Ser) | dbSNP |
17 | g.1496109T= | CA2242889316 | INPP5K | c.1241A= (p.Tyr414=) c.1013A= (p.Tyr338=) c.*832A= (n.*832A=) n.353A= c.965A= (p.Tyr322=) c.836A= (p.Tyr279=) | |
17 | g.1496110A>C | CA397536207 | INPP5K | c.1240T>G (p.Tyr414Asp) c.1012T>G (p.Tyr338Asp) c.*831T>G (n.*831T>G) n.352T>G c.964T>G (p.Tyr322Asp) c.835T>G (p.Tyr279Asp) | |
17 | g.1496110A>G | CA397536209 | INPP5K | c.1240T>C (p.Tyr414His) c.1012T>C (p.Tyr338His) c.*831T>C (n.*831T>C) n.352T>C c.964T>C (p.Tyr322His) c.835T>C (p.Tyr279His) | |
17 | g.1496110A>T | CA397536212 | INPP5K | c.1240T>A (p.Tyr414Asn) c.1012T>A (p.Tyr338Asn) c.*831T>A (n.*831T>A) n.352T>A c.964T>A (p.Tyr322Asn) c.835T>A (p.Tyr279Asn) | |
17 | g.1496111A>C | CA397536221 | INPP5K | c.1239T>G (p.Cys413Trp) c.1011T>G (p.Cys337Trp) c.*830T>G (n.*830T>G) n.351T>G c.963T>G (p.Cys321Trp) c.834T>G (p.Cys278Trp) | |
17 | g.1496111A>G | CA497278672 | INPP5K | c.1239T>C (p.Cys413=) c.1011T>C (p.Cys337=) c.*830T>C (n.*830T>C) n.351T>C c.963T>C (p.Cys321=) c.834T>C (p.Cys278=) | |
17 | g.1496111A>T | CA397536225 | INPP5K | c.1239T>A (p.Cys413Ter) c.1011T>A (p.Cys337Ter) c.*830T>A (n.*830T>A) n.351T>A c.963T>A (p.Cys321Ter) c.834T>A (p.Cys278Ter) | |
17 | g.1496112C>A | CA397536229 | INPP5K | c.1238G>T (p.Cys413Phe) c.1010G>T (p.Cys337Phe) c.*829G>T (n.*829G>T) n.350G>T c.962G>T (p.Cys321Phe) c.833G>T (p.Cys278Phe) | |
17 | g.1496112C= | CA2242889318 | INPP5K | c.1238G= (p.Cys413=) c.1010G= (p.Cys337=) c.*829G= (n.*829G=) n.350G= c.962G= (p.Cys321=) c.833G= (p.Cys278=) | |
17 | g.1496112C>G | CA397536235 | INPP5K | c.1238G>C (p.Cys413Ser) c.1010G>C (p.Cys337Ser) c.*829G>C (n.*829G>C) n.350G>C c.962G>C (p.Cys321Ser) c.833G>C (p.Cys278Ser) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.1496112C>T | CA397536238 | INPP5K | c.1238G>A (p.Cys413Tyr) c.1010G>A (p.Cys337Tyr) c.*829G>A (n.*829G>A) n.350G>A c.962G>A (p.Cys321Tyr) c.833G>A (p.Cys278Tyr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1496112_1496114delinsCAG | CA2242889317 | INPP5K | c.1236_1238delinsCTG (p.Leu412=) c.1008_1010delinsCTG (p.Leu336=) c.*827_*829delinsCTG (n.*827_*829delinsCTG) n.348_350delinsCTG c.960_962delinsCTG (p.Leu320=) c.831_833delinsCTG (p.Leu277=) | |
17 | g.1496113A>C | CA397536239 | INPP5K | c.1237T>G (p.Cys413Gly) c.1009T>G (p.Cys337Gly) c.*828T>G (n.*828T>G) n.349T>G c.961T>G (p.Cys321Gly) c.832T>G (p.Cys278Gly) | |
17 | g.1496113A>G | CA397536242 | INPP5K | c.1237T>C (p.Cys413Arg) c.1009T>C (p.Cys337Arg) c.*828T>C (n.*828T>C) n.349T>C c.961T>C (p.Cys321Arg) c.832T>C (p.Cys278Arg) | |
17 | g.1496113A>T | CA397536245 | INPP5K | c.1237T>A (p.Cys413Ser) c.1009T>A (p.Cys337Ser) c.*828T>A (n.*828T>A) n.349T>A c.961T>A (p.Cys321Ser) c.832T>A (p.Cys278Ser) | |
17 | g.1496115_1496116del | CA8268315 | INPP5K | c.1236_1237del (p.Cys413LeufsTer?) c.1008_1009del (p.Cys337LeufsTer?) c.*827_*828del (n.*827_*828del) n.348_349del c.960_961del (p.Cys321LeufsTer?) c.831_832del (p.Cys278LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
17 | g.1496114G>A | CA497278675 | INPP5K | c.1236C>T (p.Leu412=) c.1008C>T (p.Leu336=) c.*827C>T (n.*827C>T) n.348C>T c.960C>T (p.Leu320=) c.831C>T (p.Leu277=) | |
17 | g.1496114G>C | CA8268316 | INPP5K | c.1236C>G (p.Leu412=) c.1008C>G (p.Leu336=) c.*827C>G (n.*827C>G) n.348C>G c.960C>G (p.Leu320=) c.831C>G (p.Leu277=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496114G= | CA2242889319 | INPP5K | c.1236C= (p.Leu412=) c.1008C= (p.Leu336=) c.*827C= (n.*827C=) n.348C= c.960C= (p.Leu320=) c.831C= (p.Leu277=) | |
17 | g.1496114G>T | CA497278674 | INPP5K | c.1236C>A (p.Leu412=) c.1008C>A (p.Leu336=) c.*827C>A (n.*827C>A) n.348C>A c.960C>A (p.Leu320=) c.831C>A (p.Leu277=) | |
17 | g.1496115A>C | CA397536252 | INPP5K | c.1235T>G (p.Leu412Arg) c.1007T>G (p.Leu336Arg) c.*826T>G (n.*826T>G) n.347T>G c.959T>G (p.Leu320Arg) c.830T>G (p.Leu277Arg) | |
17 | g.1496115A>G | CA397536255 | INPP5K | c.1235T>C (p.Leu412Pro) c.1007T>C (p.Leu336Pro) c.*826T>C (n.*826T>C) n.347T>C c.959T>C (p.Leu320Pro) c.830T>C (p.Leu277Pro) | |
17 | g.1496115A>T | CA397536262 | INPP5K | c.1235T>A (p.Leu412His) c.1007T>A (p.Leu336His) c.*826T>A (n.*826T>A) n.347T>A c.959T>A (p.Leu320His) c.830T>A (p.Leu277His) | |
17 | g.1496116G>A | CA397536264 | INPP5K | c.1234C>T (p.Leu412Phe) c.1006C>T (p.Leu336Phe) c.*825C>T (n.*825C>T) n.346C>T c.958C>T (p.Leu320Phe) c.829C>T (p.Leu277Phe) | dbSNP gnomAD v4 |
17 | g.1496116G>C | CA397536268 | INPP5K | c.1234C>G (p.Leu412Val) c.1006C>G (p.Leu336Val) c.*825C>G (n.*825C>G) n.346C>G c.958C>G (p.Leu320Val) c.829C>G (p.Leu277Val) | |
17 | g.1496116G= | CA2242889320 | INPP5K | c.1234C= (p.Leu412=) c.1006C= (p.Leu336=) c.*825C= (n.*825C=) n.346C= c.958C= (p.Leu320=) c.829C= (p.Leu277=) | |
17 | g.1496116G>T | CA397536267 | INPP5K | c.1234C>A (p.Leu412Ile) c.1006C>A (p.Leu336Ile) c.*825C>A (n.*825C>A) n.346C>A c.958C>A (p.Leu320Ile) c.829C>A (p.Leu277Ile) | |
17 | g.1496117G>A | CA497278681 | INPP5K | c.1233C>T (p.Leu411=) c.1005C>T (p.Leu335=) c.*824C>T (n.*824C>T) n.345C>T c.957C>T (p.Leu319=) c.828C>T (p.Leu276=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1496117G>C | CA497278679 | INPP5K | c.1233C>G (p.Leu411=) c.1005C>G (p.Leu335=) c.*824C>G (n.*824C>G) n.345C>G c.957C>G (p.Leu319=) c.828C>G (p.Leu276=) | |
17 | g.1496117G= | CA2242889321 | INPP5K | c.1233C= (p.Leu411=) c.1005C= (p.Leu335=) c.*824C= (n.*824C=) n.345C= c.957C= (p.Leu319=) c.828C= (p.Leu276=) | |
17 | g.1496117G>T | CA497278678 | INPP5K | c.1233C>A (p.Leu411=) c.1005C>A (p.Leu335=) c.*824C>A (n.*824C>A) n.345C>A c.957C>A (p.Leu319=) c.828C>A (p.Leu276=) | |
17 | g.1496118A>C | CA397536270 | INPP5K | c.1232T>G (p.Leu411Arg) c.1004T>G (p.Leu335Arg) c.*823T>G (n.*823T>G) n.344T>G c.956T>G (p.Leu319Arg) c.827T>G (p.Leu276Arg) | |
17 | g.1496118A>G | CA397536272 | INPP5K | c.1232T>C (p.Leu411Pro) c.1004T>C (p.Leu335Pro) c.*823T>C (n.*823T>C) n.344T>C c.956T>C (p.Leu319Pro) c.827T>C (p.Leu276Pro) | |
17 | g.1496118A>T | CA397536271 | INPP5K | c.1232T>A (p.Leu411His) c.1004T>A (p.Leu335His) c.*823T>A (n.*823T>A) n.344T>A c.956T>A (p.Leu319His) c.827T>A (p.Leu276His) | |
17 | g.1496119G>A | CA8268317 | INPP5K | c.1231C>T (p.Leu411Phe) c.1003C>T (p.Leu335Phe) c.*822C>T (n.*822C>T) n.343C>T c.955C>T (p.Leu319Phe) c.826C>T (p.Leu276Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496119G>C | CA397536277 | INPP5K | c.1231C>G (p.Leu411Val) c.1003C>G (p.Leu335Val) c.*822C>G (n.*822C>G) n.343C>G c.955C>G (p.Leu319Val) c.826C>G (p.Leu276Val) | |
17 | g.1496119G= | CA2242889322 | INPP5K | c.1231C= (p.Leu411=) c.1003C= (p.Leu335=) c.*822C= (n.*822C=) n.343C= c.955C= (p.Leu319=) c.826C= (p.Leu276=) | |
17 | g.1496119G>T | CA397536275 | INPP5K | c.1231C>A (p.Leu411Ile) c.1003C>A (p.Leu335Ile) c.*822C>A (n.*822C>A) n.343C>A c.955C>A (p.Leu319Ile) c.826C>A (p.Leu276Ile) | |
17 | g.1496120A>C | CA397536284 | INPP5K | c.1230T>G (p.Phe410Leu) c.1002T>G (p.Phe334Leu) c.*821T>G (n.*821T>G) n.342T>G c.954T>G (p.Phe318Leu) c.825T>G (p.Phe275Leu) | |
17 | g.1496120A>G | CA497278683 | INPP5K | c.1230T>C (p.Phe410=) c.1002T>C (p.Phe334=) c.*821T>C (n.*821T>C) n.342T>C c.954T>C (p.Phe318=) c.825T>C (p.Phe275=) | |
17 | g.1496120A>T | CA397536286 | INPP5K | c.1230T>A (p.Phe410Leu) c.1002T>A (p.Phe334Leu) c.*821T>A (n.*821T>A) n.342T>A c.954T>A (p.Phe318Leu) c.825T>A (p.Phe275Leu) | |
17 | g.1496121_1496122del | CA2580092427 | INPP5K | c.1229_1230del (p.Phe410SerfsTer?) c.1001_1002del (p.Phe334SerfsTer?) c.*820_*821del (n.*820_*821del) n.341_342del c.953_954del (p.Phe318SerfsTer?) c.824_825del (p.Phe275SerfsTer?) | ClinVar |
17 | g.1496121A= | CA2242889323 | INPP5K | c.1229T= (p.Phe410=) c.1001T= (p.Phe334=) c.*820T= (n.*820T=) n.341T= c.953T= (p.Phe318=) c.824T= (p.Phe275=) | |
17 | g.1496121A>C | CA397536289 | INPP5K | c.1229T>G (p.Phe410Cys) c.1001T>G (p.Phe334Cys) c.*820T>G (n.*820T>G) n.341T>G c.953T>G (p.Phe318Cys) c.824T>G (p.Phe275Cys) | dbSNP |
17 | g.1496121A>G | CA397536291 | INPP5K | c.1229T>C (p.Phe410Ser) c.1001T>C (p.Phe334Ser) c.*820T>C (n.*820T>C) n.341T>C c.953T>C (p.Phe318Ser) c.824T>C (p.Phe275Ser) | |
17 | g.1496121A>T | CA397536295 | INPP5K | c.1229T>A (p.Phe410Tyr) c.1001T>A (p.Phe334Tyr) c.*820T>A (n.*820T>A) n.341T>A c.953T>A (p.Phe318Tyr) c.824T>A (p.Phe275Tyr) | |
17 | g.1496122A>C | CA397536298 | INPP5K | c.1228T>G (p.Phe410Val) c.1000T>G (p.Phe334Val) c.*819T>G (n.*819T>G) n.340T>G c.952T>G (p.Phe318Val) c.823T>G (p.Phe275Val) | |
17 | g.1496122A>G | CA397536302 | INPP5K | c.1228T>C (p.Phe410Leu) c.1000T>C (p.Phe334Leu) c.*819T>C (n.*819T>C) n.340T>C c.952T>C (p.Phe318Leu) c.823T>C (p.Phe275Leu) | gnomAD v4 |
17 | g.1496122A>T | CA397536305 | INPP5K | c.1228T>A (p.Phe410Ile) c.1000T>A (p.Phe334Ile) c.*819T>A (n.*819T>A) n.340T>A c.952T>A (p.Phe318Ile) c.823T>A (p.Phe275Ile) | |
17 | g.1496123C>A | CA397536308 | INPP5K | c.1227G>T (p.Glu409Asp) c.999G>T (p.Glu333Asp) c.*818G>T (n.*818G>T) n.339G>T c.951G>T (p.Glu317Asp) c.822G>T (p.Glu274Asp) | |
17 | g.1496123C= | CA2242889324 | INPP5K | c.1227G= (p.Glu409=) c.999G= (p.Glu333=) c.*818G= (n.*818G=) n.339G= c.951G= (p.Glu317=) c.822G= (p.Glu274=) | |
17 | g.1496123C>G | CA397536311 | INPP5K | c.1227G>C (p.Glu409Asp) c.999G>C (p.Glu333Asp) c.*818G>C (n.*818G>C) n.339G>C c.951G>C (p.Glu317Asp) c.822G>C (p.Glu274Asp) | |
17 | g.1496123C>T | CA8268318 | INPP5K | c.1227G>A (p.Glu409=) c.999G>A (p.Glu333=) c.*818G>A (n.*818G>A) n.339G>A c.951G>A (p.Glu317=) c.822G>A (p.Glu274=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.1496124T>A | CA397536315 | INPP5K | c.1226A>T (p.Glu409Val) c.998A>T (p.Glu333Val) c.*817A>T (n.*817A>T) n.338A>T c.950A>T (p.Glu317Val) c.821A>T (p.Glu274Val) | |
17 | g.1496124T>C | CA397536318 | INPP5K | c.1226A>G (p.Glu409Gly) c.998A>G (p.Glu333Gly) c.*817A>G (n.*817A>G) n.338A>G c.950A>G (p.Glu317Gly) c.821A>G (p.Glu274Gly) | |
17 | g.1496124T>G | CA397536321 | INPP5K | c.1226A>C (p.Glu409Ala) c.998A>C (p.Glu333Ala) c.*817A>C (n.*817A>C) n.338A>C c.950A>C (p.Glu317Ala) c.821A>C (p.Glu274Ala) | |
17 | g.1496125C>A | CA397536329 | INPP5K | c.1225G>T (p.Glu409Ter) c.997G>T (p.Glu333Ter) c.*816G>T (n.*816G>T) n.337G>T c.949G>T (p.Glu317Ter) c.820G>T (p.Glu274Ter) | |
17 | g.1496125C= | CA2242889325 | INPP5K | c.1225G= (p.Glu409=) c.997G= (p.Glu333=) c.*816G= (n.*816G=) n.337G= c.949G= (p.Glu317=) c.820G= (p.Glu274=) | |
17 | g.1496125C>G | CA397536325 | INPP5K | c.1225G>C (p.Glu409Gln) c.997G>C (p.Glu333Gln) c.*816G>C (n.*816G>C) n.337G>C c.949G>C (p.Glu317Gln) c.820G>C (p.Glu274Gln) | |
17 | g.1496125C>T | CA397536328 | INPP5K | c.1225G>A (p.Glu409Lys) c.997G>A (p.Glu333Lys) c.*816G>A (n.*816G>A) n.337G>A c.949G>A (p.Glu317Lys) c.820G>A (p.Glu274Lys) | dbSNP gnomAD v4 |
17 | g.1496126A>C | CA397536330 | INPP5K | c.1224T>G (p.Asp408Glu) c.996T>G (p.Asp332Glu) c.*815T>G (n.*815T>G) n.336T>G c.948T>G (p.Asp316Glu) c.819T>G (p.Asp273Glu) | gnomAD v4 |
17 | g.1496126A>G | CA497278686 | INPP5K | c.1224T>C (p.Asp408=) c.996T>C (p.Asp332=) c.*815T>C (n.*815T>C) n.336T>C c.948T>C (p.Asp316=) c.819T>C (p.Asp273=) | gnomAD v4 |
17 | g.1496126A>T | CA397536332 | INPP5K | c.1224T>A (p.Asp408Glu) c.996T>A (p.Asp332Glu) c.*815T>A (n.*815T>A) n.336T>A c.948T>A (p.Asp316Glu) c.819T>A (p.Asp273Glu) | |
17 | g.1496126dup | CA8268319 | INPP5K | c.1224dup (p.Glu409Ter) c.996dup (p.Glu333Ter) c.*815dup (n.*815dup) n.336dup c.948dup (p.Glu317Ter) c.819dup (p.Glu274Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496127T>A | CA397536341 | INPP5K | c.1223A>T (p.Asp408Val) c.995A>T (p.Asp332Val) c.*814A>T (n.*814A>T) n.335A>T c.947A>T (p.Asp316Val) c.818A>T (p.Asp273Val) | |
17 | g.1496127T>C | CA397536342 | INPP5K | c.1223A>G (p.Asp408Gly) c.995A>G (p.Asp332Gly) c.*814A>G (n.*814A>G) n.335A>G c.947A>G (p.Asp316Gly) c.818A>G (p.Asp273Gly) | gnomAD v4 |
17 | g.1496127T>G | CA397536343 | INPP5K | c.1223A>C (p.Asp408Ala) c.995A>C (p.Asp332Ala) c.*814A>C (n.*814A>C) n.335A>C c.947A>C (p.Asp316Ala) c.818A>C (p.Asp273Ala) | |
17 | g.1496128C>A | CA397536344 | INPP5K | c.1222G>T (p.Asp408Tyr) c.994G>T (p.Asp332Tyr) c.*813G>T (n.*813G>T) n.334G>T c.946G>T (p.Asp316Tyr) c.817G>T (p.Asp273Tyr) | |
17 | g.1496128C= | CA2242889326 | INPP5K | c.1222G= (p.Asp408=) c.994G= (p.Asp332=) c.*813G= (n.*813G=) n.334G= c.946G= (p.Asp316=) c.817G= (p.Asp273=) | |
17 | g.1496128C>G | CA397536346 | INPP5K | c.1222G>C (p.Asp408His) c.994G>C (p.Asp332His) c.*813G>C (n.*813G>C) n.334G>C c.946G>C (p.Asp316His) c.817G>C (p.Asp273His) | |
17 | g.1496128C>T | CA397536348 | INPP5K | c.1222G>A (p.Asp408Asn) c.994G>A (p.Asp332Asn) c.*813G>A (n.*813G>A) n.334G>A c.946G>A (p.Asp316Asn) c.817G>A (p.Asp273Asn) | dbSNP gnomAD v2 |
17 | g.1496129T>A | CA397536351 | INPP5K | c.1221A>T (p.Glu407Asp) c.993A>T (p.Glu331Asp) c.*812A>T (n.*812A>T) n.333A>T c.945A>T (p.Glu315Asp) c.816A>T (p.Glu272Asp) | |
17 | g.1496129T>C | CA497278689 | INPP5K | c.1221A>G (p.Glu407=) c.993A>G (p.Glu331=) c.*812A>G (n.*812A>G) n.333A>G c.945A>G (p.Glu315=) c.816A>G (p.Glu272=) | |
17 | g.1496129T>G | CA397536352 | INPP5K | c.1221A>C (p.Glu407Asp) c.993A>C (p.Glu331Asp) c.*812A>C (n.*812A>C) n.333A>C c.945A>C (p.Glu315Asp) c.816A>C (p.Glu272Asp) | |
17 | g.1496130T>A | CA397536358 | INPP5K | c.1220A>T (p.Glu407Val) c.992A>T (p.Glu331Val) c.*811A>T (n.*811A>T) n.332A>T c.944A>T (p.Glu315Val) c.815A>T (p.Glu272Val) | |
17 | g.1496130T>C | CA397536356 | INPP5K | c.1220A>G (p.Glu407Gly) c.992A>G (p.Glu331Gly) c.*811A>G (n.*811A>G) n.332A>G c.944A>G (p.Glu315Gly) c.815A>G (p.Glu272Gly) | |
17 | g.1496130T>G | CA397536354 | INPP5K | c.1220A>C (p.Glu407Ala) c.992A>C (p.Glu331Ala) c.*811A>C (n.*811A>C) n.332A>C c.944A>C (p.Glu315Ala) c.815A>C (p.Glu272Ala) | |
17 | g.1496131C>A | CA397536361 | INPP5K | c.1219G>T (p.Glu407Ter) c.991G>T (p.Glu331Ter) c.*810G>T (n.*810G>T) n.331G>T c.943G>T (p.Glu315Ter) c.814G>T (p.Glu272Ter) | |
17 | g.1496131C= | CA2242889327 | INPP5K | c.1219G= (p.Glu407=) c.991G= (p.Glu331=) c.*810G= (n.*810G=) n.331G= c.943G= (p.Glu315=) c.814G= (p.Glu272=) | |
17 | g.1496131C>G | CA397536363 | INPP5K | c.1219G>C (p.Glu407Gln) c.991G>C (p.Glu331Gln) c.*810G>C (n.*810G>C) n.331G>C c.943G>C (p.Glu315Gln) c.814G>C (p.Glu272Gln) | |
17 | g.1496131C>T | CA397536365 | INPP5K | c.1219G>A (p.Glu407Lys) c.991G>A (p.Glu331Lys) c.*810G>A (n.*810G>A) n.331G>A c.943G>A (p.Glu315Lys) c.814G>A (p.Glu272Lys) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.1496132A>C | CA497278691 | INPP5K | c.1218T>G (p.Thr406=) c.990T>G (p.Thr330=) c.*809T>G (n.*809T>G) n.330T>G c.942T>G (p.Thr314=) c.813T>G (p.Thr271=) | |
17 | g.1496132A>G | CA497278692 | INPP5K | c.1218T>C (p.Thr406=) c.990T>C (p.Thr330=) c.*809T>C (n.*809T>C) n.330T>C c.942T>C (p.Thr314=) c.813T>C (p.Thr271=) | gnomAD v4 |
17 | g.1496132A>T | CA497278693 | INPP5K | c.1218T>A (p.Thr406=) c.990T>A (p.Thr330=) c.*809T>A (n.*809T>A) n.330T>A c.942T>A (p.Thr314=) c.813T>A (p.Thr271=) | |
17 | g.1496133G>A | CA397536367 | INPP5K | c.1217C>T (p.Thr406Ile) c.989C>T (p.Thr330Ile) c.*808C>T (n.*808C>T) n.329C>T c.941C>T (p.Thr314Ile) c.812C>T (p.Thr271Ile) | |
17 | g.1496133G>C | CA397536368 | INPP5K | c.1217C>G (p.Thr406Ser) c.989C>G (p.Thr330Ser) c.*808C>G (n.*808C>G) n.329C>G c.941C>G (p.Thr314Ser) c.812C>G (p.Thr271Ser) | |
17 | g.1496133G>T | CA397536369 | INPP5K | c.1217C>A (p.Thr406Asn) c.989C>A (p.Thr330Asn) c.*808C>A (n.*808C>A) n.329C>A c.941C>A (p.Thr314Asn) c.812C>A (p.Thr271Asn) | |
17 | g.1496134T>A | CA397536370 | INPP5K | c.1216A>T (p.Thr406Ser) c.988A>T (p.Thr330Ser) c.*807A>T (n.*807A>T) n.328A>T c.940A>T (p.Thr314Ser) c.811A>T (p.Thr271Ser) | |
17 | g.1496134T>C | CA397536371 | INPP5K | c.1216A>G (p.Thr406Ala) c.988A>G (p.Thr330Ala) c.*807A>G (n.*807A>G) n.328A>G c.940A>G (p.Thr314Ala) c.811A>G (p.Thr271Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496134T>G | CA397536373 | INPP5K | c.1216A>C (p.Thr406Pro) c.988A>C (p.Thr330Pro) c.*807A>C (n.*807A>C) n.328A>C c.940A>C (p.Thr314Pro) c.811A>C (p.Thr271Pro) | |
17 | g.1496134T= | CA2242889328 | INPP5K | c.1216A= (p.Thr406=) c.988A= (p.Thr330=) c.*807A= (n.*807A=) n.328A= c.940A= (p.Thr314=) c.811A= (p.Thr271=) | |
17 | g.1496135G>A | CA8268320 | INPP5K | c.1215C>T (p.Thr405=) c.987C>T (p.Thr329=) c.*806C>T (n.*806C>T) n.327C>T c.939C>T (p.Thr313=) c.810C>T (p.Thr270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.1496135G>C | CA497278697 | INPP5K | c.1215C>G (p.Thr405=) c.987C>G (p.Thr329=) c.*806C>G (n.*806C>G) n.327C>G c.939C>G (p.Thr313=) c.810C>G (p.Thr270=) | |
17 | g.1496135G= | CA2242889329 | INPP5K | c.1215C= (p.Thr405=) c.987C= (p.Thr329=) c.*806C= (n.*806C=) n.327C= c.939C= (p.Thr313=) c.810C= (p.Thr270=) | |
17 | g.1496135G>T | CA497278698 | INPP5K | c.1215C>A (p.Thr405=) c.987C>A (p.Thr329=) c.*806C>A (n.*806C>A) n.327C>A c.939C>A (p.Thr313=) c.810C>A (p.Thr270=) | |
17 | g.1496136G>A | CA8268321 | INPP5K | c.1214C>T (p.Thr405Ile) c.986C>T (p.Thr329Ile) c.*805C>T (n.*805C>T) n.326C>T c.938C>T (p.Thr313Ile) c.809C>T (p.Thr270Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.1496136G>C | CA397536380 | INPP5K | c.1214C>G (p.Thr405Ser) c.986C>G (p.Thr329Ser) c.*805C>G (n.*805C>G) n.326C>G c.938C>G (p.Thr313Ser) c.809C>G (p.Thr270Ser) | |
17 | g.1496136G= | CA2242889330 | INPP5K | c.1214C= (p.Thr405=) c.986C= (p.Thr329=) c.*805C= (n.*805C=) n.326C= c.938C= (p.Thr313=) c.809C= (p.Thr270=) | |
17 | g.1496136G>T | CA397536383 | INPP5K | c.1214C>A (p.Thr405Asn) c.986C>A (p.Thr329Asn) c.*805C>A (n.*805C>A) n.326C>A c.938C>A (p.Thr313Asn) c.809C>A (p.Thr270Asn) | |
17 | g.1496137T>A | CA397536388 | INPP5K | c.1213A>T (p.Thr405Ser) c.985A>T (p.Thr329Ser) c.*804A>T (n.*804A>T) n.325A>T c.937A>T (p.Thr313Ser) c.808A>T (p.Thr270Ser) | |
17 | g.1496137T>C | CA397536394 | INPP5K | c.1213A>G (p.Thr405Ala) c.985A>G (p.Thr329Ala) c.*804A>G (n.*804A>G) n.325A>G c.937A>G (p.Thr313Ala) c.808A>G (p.Thr270Ala) | |
17 | g.1496137T>G | CA397536391 | INPP5K | c.1213A>C (p.Thr405Pro) c.985A>C (p.Thr329Pro) c.*804A>C (n.*804A>C) n.325A>C c.937A>C (p.Thr313Pro) c.808A>C (p.Thr270Pro) | |
17 | g.1496138A>C | CA497278704 | INPP5K | c.1212T>G (p.Pro404=) c.984T>G (p.Pro328=) c.*803T>G (n.*803T>G) n.324T>G c.936T>G (p.Pro312=) c.807T>G (p.Pro269=) | |
17 | g.1496138A>G | CA497278703 | INPP5K | c.1212T>C (p.Pro404=) c.984T>C (p.Pro328=) c.*803T>C (n.*803T>C) n.324T>C c.936T>C (p.Pro312=) c.807T>C (p.Pro269=) | COSMIC COSMIC |
17 | g.1496138A>T | CA497278702 | INPP5K | c.1212T>A (p.Pro404=) c.984T>A (p.Pro328=) c.*803T>A (n.*803T>A) n.324T>A c.936T>A (p.Pro312=) c.807T>A (p.Pro269=) | |
17 | g.1496139G>A | CA397536396 | INPP5K | c.1211C>T (p.Pro404Leu) c.983C>T (p.Pro328Leu) c.*802C>T (n.*802C>T) n.323C>T c.935C>T (p.Pro312Leu) c.806C>T (p.Pro269Leu) | |
17 | g.1496139G>C | CA397536398 | INPP5K | c.1211C>G (p.Pro404Arg) c.983C>G (p.Pro328Arg) c.*802C>G (n.*802C>G) n.323C>G c.935C>G (p.Pro312Arg) c.806C>G (p.Pro269Arg) | |
17 | g.1496139G>T | CA397536400 | INPP5K | c.1211C>A (p.Pro404His) c.983C>A (p.Pro328His) c.*802C>A (n.*802C>A) n.323C>A c.935C>A (p.Pro312His) c.806C>A (p.Pro269His) |