Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.70853160A= | CA2436261240 | TEX11 | c.406-7T= (n.406-7T=) c.451-7T= (n.451-7T=) | |
X | g.70853160A>G | CA877775999 | TEX11 | c.406-7T>C (n.406-7T>C) c.451-7T>C (n.451-7T>C) | dbSNP gnomAD v4 |
X | g.70853161A= | CA2436261241 | TEX11 | c.406-8T= (n.406-8T=) c.451-8T= (n.451-8T=) | |
X | g.70853161A>T | CA2436261242 | TEX11 | c.406-8T>A (n.406-8T>A) c.451-8T>A (n.451-8T>A) | dbSNP |
X | g.70853162T>C | CA10442905 | TEX11 | c.406-9A>G (n.406-9A>G) c.451-9A>G (n.451-9A>G) | dbSNP ExAC |
X | g.70853162T= | CA2436261243 | TEX11 | c.406-9A= (n.406-9A=) c.451-9A= (n.451-9A=) | |
X | g.70853165A= | CA2436261244 | TEX11 | c.406-12T= (n.406-12T=) c.451-12T= (n.451-12T=) | |
X | g.70853165A>G | CA642470359 | TEX11 | c.406-12T>C (n.406-12T>C) c.451-12T>C (n.451-12T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70853168dup | CA2694012961 | TEX11 | c.406-13dup (n.406-13dup) c.451-13dup (n.451-13dup) | gnomAD v4 |
X | g.70853169A= | CA2436261245 | TEX11 | c.406-16T= (n.406-16T=) c.451-16T= (n.451-16T=) | |
X | g.70853169A>C | CA2436261246 | TEX11 | c.406-16T>G (n.406-16T>G) c.451-16T>G (n.451-16T>G) | dbSNP gnomAD v4 |
X | g.70853172G>A | CA2579637143 | TEX11 | c.406-19C>T (n.406-19C>T) c.451-19C>T (n.451-19C>T) | gnomAD v4 |
X | g.70853174A>G | CA2694012962 | TEX11 | c.406-21T>C (n.406-21T>C) c.451-21T>C (n.451-21T>C) | gnomAD v4 |
X | g.70853177_70853178delinsAT | CA2436261247 | TEX11 | c.406-25_406-24delinsAT (n.406-25_406-24delinsAT) c.451-25_451-24delinsAT (n.451-25_451-24delinsAT) | |
X | g.70853178del | CA642470360 | TEX11 | c.406-25del (n.406-25del) c.451-25del (n.451-25del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70853178T>G | CA2821714878 | TEX11 | c.406-25A>C (n.406-25A>C) c.451-25A>C (n.451-25A>C) | |
X | g.70853183C>A | CA642470361 | TEX11 | c.406-30G>T (n.406-30G>T) c.451-30G>T (n.451-30G>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70853183C= | CA2436261248 | TEX11 | c.406-30G= (n.406-30G=) c.451-30G= (n.451-30G=) | |
X | g.70853184A= | CA2436261249 | TEX11 | c.406-31T= (n.406-31T=) c.451-31T= (n.451-31T=) | |
X | g.70853184A>C | CA331002040 | TEX11 | c.406-31T>G (n.406-31T>G) c.451-31T>G (n.451-31T>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70853184A>T | CA2436261250 | TEX11 | c.406-31T>A (n.406-31T>A) c.451-31T>A (n.451-31T>A) | dbSNP |
X | g.70853185A>G | CA2694012963 | TEX11 | c.406-32T>C (n.406-32T>C) c.451-32T>C (n.451-32T>C) | gnomAD v4 |
X | g.70853186T>C | CA2579637144 | TEX11 | c.406-33A>G (n.406-33A>G) c.451-33A>G (n.451-33A>G) | |
X | g.70853189G>A | CA642470362 | TEX11 | c.406-36C>T (n.406-36C>T) c.451-36C>T (n.451-36C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70853189G= | CA2436261251 | TEX11 | c.406-36C= (n.406-36C=) c.451-36C= (n.451-36C=) | |
X | g.70853189_70853192delinsGAAT | CA2436261252 | TEX11 | c.406-39_406-36delinsATTC (n.406-39_406-36delinsATTC) c.451-39_451-36delinsATTC (n.451-39_451-36delinsATTC) | |
X | g.70853192_70853194del | CA877776028 | TEX11 | c.406-39_406-37del (n.406-39_406-37del) c.451-39_451-37del (n.451-39_451-37del) | dbSNP |
X | g.70853192T>C | CA10442906 | TEX11 | c.406-39A>G (n.406-39A>G) c.451-39A>G (n.451-39A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.70853192T= | CA2436261253 | TEX11 | c.406-39A= (n.406-39A=) c.451-39A= (n.451-39A=) | |
X | g.70853194A>T | CA2694012964 | TEX11 | c.406-41T>A (n.406-41T>A) c.451-41T>A (n.451-41T>A) | gnomAD v4 |
X | g.70853197A>C | CA2694012965 | TEX11 | c.406-44T>G (n.406-44T>G) c.451-44T>G (n.451-44T>G) | gnomAD v4 |
X | g.70853199A>G | CA2694012966 | TEX11 | c.406-46T>C (n.406-46T>C) c.451-46T>C (n.451-46T>C) | gnomAD v4 |
X | g.70853200G>C | CA10442907 | TEX11 | c.406-47C>G (n.406-47C>G) c.451-47C>G (n.451-47C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.70853200G= | CA2436261254 | TEX11 | c.406-47C= (n.406-47C=) c.451-47C= (n.451-47C=) | |
X | g.70853200G>T | CA2694012967 | TEX11 | c.406-47C>A (n.406-47C>A) c.451-47C>A (n.451-47C>A) | gnomAD v4 |
X | g.70853202T>C | CA10442908 | TEX11 | c.405+46A>G (n.405+46A>G) c.450+46A>G (n.450+46A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.70853202T= | CA2436261255 | TEX11 | c.405+46A= (n.405+46A=) c.450+46A= (n.450+46A=) | |
X | g.70853203G>A | CA10442909 | TEX11 | c.405+45C>T (n.405+45C>T) c.450+45C>T (n.450+45C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.70853203G= | CA2436261256 | TEX11 | c.405+45C= (n.405+45C=) c.450+45C= (n.450+45C=) | |
X | g.70853204T>C | CA2694012968 | TEX11 | c.405+44A>G (n.405+44A>G) c.450+44A>G (n.450+44A>G) | gnomAD v4 |
X | g.70853205T>G | CA657714636 | TEX11 | c.405+43A>C (n.405+43A>C) c.450+43A>C (n.450+43A>C) | COSMIC COSMIC |
X | g.70853206A= | CA2436261257 | TEX11 | c.405+42T= (n.405+42T=) c.450+42T= (n.450+42T=) | |
X | g.70853206A>T | CA10442910 | TEX11 | c.405+42T>A (n.405+42T>A) c.450+42T>A (n.450+42T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.70853213A= | CA2436261258 | TEX11 | c.405+35T= (n.405+35T=) c.450+35T= (n.450+35T=) | |
X | g.70853213A>C | CA2436261259 | TEX11 | c.405+35T>G (n.405+35T>G) c.450+35T>G (n.450+35T>G) | dbSNP gnomAD v4 |
X | g.70853214T>A | CA1134089768 | TEX11 | c.405+34A>T (n.405+34A>T) c.450+34A>T (n.450+34A>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.70853214T>C | CA10442911 | TEX11 | c.405+34A>G (n.405+34A>G) c.450+34A>G (n.450+34A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.70853214T= | CA2436261260 | TEX11 | c.405+34A= (n.405+34A=) c.450+34A= (n.450+34A=) | |
X | g.70853215A>G | CA2694012969 | TEX11 | c.405+33T>C (n.405+33T>C) c.450+33T>C (n.450+33T>C) | gnomAD v4 |
X | g.70853216A>G | CA2694012970 | TEX11 | c.405+32T>C (n.405+32T>C) c.450+32T>C (n.450+32T>C) | gnomAD v4 |
X | g.70853218T>C | CA2579637145 | TEX11 | c.405+30A>G (n.405+30A>G) c.450+30A>G (n.450+30A>G) | |
X | g.70853219G= | CA2436261262 | TEX11 | c.405+29C= (n.405+29C=) c.450+29C= (n.450+29C=) | |
X | g.70853219G>T | CA2436261261 | TEX11 | c.405+29C>A (n.405+29C>A) c.450+29C>A (n.450+29C>A) | dbSNP |
X | g.70853220C>T | CA2694012971 | TEX11 | c.405+28G>A (n.405+28G>A) c.450+28G>A (n.450+28G>A) | gnomAD v4 |
X | g.70853221C>T | CA2694012972 | TEX11 | c.405+27G>A (n.405+27G>A) c.450+27G>A (n.450+27G>A) | gnomAD v4 |
X | g.70853223C= | CA2436261263 | TEX11 | c.405+25G= (n.405+25G=) c.450+25G= (n.450+25G=) | |
X | g.70853223C>T | CA10442912 | TEX11 | c.405+25G>A (n.405+25G>A) c.450+25G>A (n.450+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.70853224A= | CA2436261264 | TEX11 | c.405+24T= (n.405+24T=) c.450+24T= (n.450+24T=) | |
X | g.70853224A>G | CA642470363 | TEX11 | c.405+24T>C (n.405+24T>C) c.450+24T>C (n.450+24T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70853225G>A | CA10442913 | TEX11 | c.405+23C>T (n.405+23C>T) c.450+23C>T (n.450+23C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.70853225G= | CA2436261265 | TEX11 | c.405+23C= (n.405+23C=) c.450+23C= (n.450+23C=) | |
X | g.70853225G>T | CA2579637146 | TEX11 | c.405+23C>A (n.405+23C>A) c.450+23C>A (n.450+23C>A) | |
X | g.70853228A>G | CA2694012973 | TEX11 | c.405+20T>C (n.405+20T>C) c.450+20T>C (n.450+20T>C) | gnomAD v4 |
X | g.70853232G>C | CA2694012975 | TEX11 | c.405+16C>G (n.405+16C>G) c.450+16C>G (n.450+16C>G) | gnomAD v4 |
X | g.70853232G>T | CA2694012974 | TEX11 | c.405+16C>A (n.405+16C>A) c.450+16C>A (n.450+16C>A) | gnomAD v4 |
X | g.70853236A= | CA2436261266 | TEX11 | c.405+12T= (n.405+12T=) c.450+12T= (n.450+12T=) | |
X | g.70853236A>G | CA2436261267 | TEX11 | c.405+12T>C (n.405+12T>C) c.450+12T>C (n.450+12T>C) | dbSNP gnomAD v4 |
X | g.70853240T>C | CA2558894188 | TEX11 | c.405+8A>G (n.405+8A>G) c.450+8A>G (n.450+8A>G) | gnomAD v4 |
X | g.70853241A>G | CA2694012976 | TEX11 | c.405+7T>C (n.405+7T>C) c.450+7T>C (n.450+7T>C) | gnomAD v4 |
X | g.70853246A>C | CA413608011 | TEX11 | c.405+2T>G (n.405+2T>G) c.450+2T>G (n.450+2T>G) | |
X | g.70853246A>G | CA413608012 | TEX11 | c.405+2T>C (n.405+2T>C) c.450+2T>C (n.450+2T>C) | |
X | g.70853246A>T | CA413608013 | TEX11 | c.405+2T>A (n.405+2T>A) c.450+2T>A (n.450+2T>A) | |
X | g.70853247C>A | CA413608014 | TEX11 | c.405+1G>T (n.405+1G>T) c.450+1G>T (n.450+1G>T) | |
X | g.70853247C>G | CA413608015 | TEX11 | c.405+1G>C (n.405+1G>C) c.450+1G>C (n.450+1G>C) | |
X | g.70853247C>T | CA413608016 | TEX11 | c.405+1G>A (n.405+1G>A) c.450+1G>A (n.450+1G>A) | gnomAD v4 |
X | g.70853248G>A | CA355011 | TEX11 | c.405C>T (p.Ala135=) c.450C>T (p.Ala150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.70853248G>C | CA516759889 | TEX11 | c.405C>G (p.Ala135=) c.450C>G (p.Ala150=) | |
X | g.70853248G= | CA2436261268 | TEX11 | c.405C= (p.Ala135=) c.450C= (p.Ala150=) | |
X | g.70853248G>T | CA516759882 | TEX11 | c.405C>A (p.Ala135=) c.450C>A (p.Ala150=) | COSMIC COSMIC |
X | g.70853249G>A | CA413608017 | TEX11 | c.404C>T (p.Ala135Val) c.449C>T (p.Ala150Val) | |
X | g.70853249G>C | CA413608018 | TEX11 | c.404C>G (p.Ala135Gly) c.449C>G (p.Ala150Gly) | |
X | g.70853249G>T | CA413608019 | TEX11 | c.404C>A (p.Ala135Asp) c.449C>A (p.Ala150Asp) | |
X | g.70853250C>A | CA413608020 | TEX11 | c.403G>T (p.Ala135Ser) c.448G>T (p.Ala150Ser) | |
X | g.70853250C>G | CA413608022 | TEX11 | c.403G>C (p.Ala135Pro) c.448G>C (p.Ala150Pro) | |
X | g.70853250C>T | CA413608021 | TEX11 | c.403G>A (p.Ala135Thr) c.448G>A (p.Ala150Thr) | gnomAD v4 |
X | g.70853251C>A | CA516759907 | TEX11 | c.402G>T (p.Val134=) c.447G>T (p.Val149=) | |
X | g.70853251C>G | CA516759906 | TEX11 | c.402G>C (p.Val134=) c.447G>C (p.Val149=) | |
X | g.70853251C>T | CA516759905 | TEX11 | c.402G>A (p.Val134=) c.447G>A (p.Val149=) | |
X | g.70853252A>C | CA413608023 | TEX11 | c.401T>G (p.Val134Gly) c.446T>G (p.Val149Gly) | |
X | g.70853252A>G | CA413608025 | TEX11 | c.401T>C (p.Val134Ala) c.446T>C (p.Val149Ala) | |
X | g.70853252A>T | CA413608024 | TEX11 | c.401T>A (p.Val134Glu) c.446T>A (p.Val149Glu) | |
X | g.70853253C>A | CA331002041 | TEX11 | c.400G>T (p.Val134Leu) c.445G>T (p.Val149Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.70853253C= | CA2436261269 | TEX11 | c.400G= (p.Val134=) c.445G= (p.Val149=) | |
X | g.70853253C>G | CA413608026 | TEX11 | c.400G>C (p.Val134Leu) c.445G>C (p.Val149Leu) | gnomAD v4 |
X | g.70853253C>T | CA413608027 | TEX11 | c.400G>A (p.Val134Met) c.445G>A (p.Val149Met) | |
X | g.70853254A= | CA2436261270 | TEX11 | c.399T= (p.Ala133=) c.444T= (p.Ala148=) | |
X | g.70853254A>C | CA516759920 | TEX11 | c.399T>G (p.Ala133=) c.444T>G (p.Ala148=) | |
X | g.70853254A>G | CA10442914 | TEX11 | c.399T>C (p.Ala133=) c.444T>C (p.Ala148=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.70853254A>T | CA516759922 | TEX11 | c.399T>A (p.Ala133=) c.444T>A (p.Ala148=) | |
X | g.70853255G>A | CA413608028 | TEX11 | c.398C>T (p.Ala133Val) c.443C>T (p.Ala148Val) | |
X | g.70853255G>C | CA413608029 | TEX11 | c.398C>G (p.Ala133Gly) c.443C>G (p.Ala148Gly) | |
X | g.70853255G>T | CA413608030 | TEX11 | c.398C>A (p.Ala133Asp) c.443C>A (p.Ala148Asp) | |
X | g.70853256C>A | CA413608031 | TEX11 | c.397G>T (p.Ala133Ser) c.442G>T (p.Ala148Ser) | |
X | g.70853256C>G | CA413608032 | TEX11 | c.397G>C (p.Ala133Pro) c.442G>C (p.Ala148Pro) | |
X | g.70853256C>T | CA413608033 | TEX11 | c.397G>A (p.Ala133Thr) c.442G>A (p.Ala148Thr) | |
X | g.70853257A= | CA2436261271 | TEX11 | c.396T= (p.Ala132=) c.441T= (p.Ala147=) | |
X | g.70853257A>C | CA516759946 | TEX11 | c.396T>G (p.Ala132=) c.441T>G (p.Ala147=) | |
X | g.70853257A>G | CA516759949 | TEX11 | c.396T>C (p.Ala132=) c.441T>C (p.Ala147=) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.70853257A>T | CA516759953 | TEX11 | c.396T>A (p.Ala132=) c.441T>A (p.Ala147=) | |
X | g.70853258G>A | CA413608034 | TEX11 | c.395C>T (p.Ala132Val) c.440C>T (p.Ala147Val) | |
X | g.70853258G>C | CA413608035 | TEX11 | c.395C>G (p.Ala132Gly) c.440C>G (p.Ala147Gly) | |
X | g.70853258G>T | CA413608036 | TEX11 | c.395C>A (p.Ala132Asp) c.440C>A (p.Ala147Asp) | |
X | g.70853259C>A | CA413608039 | TEX11 | c.394G>T (p.Ala132Ser) c.439G>T (p.Ala147Ser) | |
X | g.70853259C>G | CA413608038 | TEX11 | c.394G>C (p.Ala132Pro) c.439G>C (p.Ala147Pro) | |
X | g.70853259C>T | CA413608037 | TEX11 | c.394G>A (p.Ala132Thr) c.439G>A (p.Ala147Thr) | |
X | g.70853260T>A | CA413608040 | TEX11 | c.393A>T (p.Gln131His) c.438A>T (p.Gln146His) | |
X | g.70853260T>C | CA516759972 | TEX11 | c.393A>G (p.Gln131=) c.438A>G (p.Gln146=) | |
X | g.70853260T>G | CA413608041 | TEX11 | c.393A>C (p.Gln131His) c.438A>C (p.Gln146His) | |
X | g.70853261del | CA2579637147 | TEX11 | c.393del (p.Ala132LeufsTer13) c.438del (p.Ala147LeufsTer13) |