| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.110064584C= | CA1188354907 | ALX3,STRIP1 | c.594+3G= (n.594+3G=) c.165+3G= (n.165+3G=) n.4214-7871C= | |
| 1 | g.110064584C>T | CA997571 | ALX3,STRIP1 | c.594+3G>A (n.594+3G>A) c.165+3G>A (n.165+3G>A) n.4214-7871C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110064585A>C | CA341584045 | ALX3,STRIP1 | c.594+2T>G (n.594+2T>G) c.165+2T>G (n.165+2T>G) n.4214-7870A>C | |
| 1 | g.110064585A>G | CA341584048 | ALX3,STRIP1 | c.594+2T>C (n.594+2T>C) c.165+2T>C (n.165+2T>C) n.4214-7870A>G | |
| 1 | g.110064585A>T | CA341584051 | ALX3,STRIP1 | c.594+2T>A (n.594+2T>A) c.165+2T>A (n.165+2T>A) n.4214-7870A>T | |
| 1 | g.110064586C>A | CA341584055 | ALX3,STRIP1 | c.594+1G>T (n.594+1G>T) c.165+1G>T (n.165+1G>T) n.4214-7869C>A | |
| 1 | g.110064586C>G | CA341584058 | ALX3,STRIP1 | c.594+1G>C (n.594+1G>C) c.165+1G>C (n.165+1G>C) n.4214-7869C>G | |
| 1 | g.110064586C>T | CA341584061 | ALX3,STRIP1 | c.594+1G>A (n.594+1G>A) c.165+1G>A (n.165+1G>A) n.4214-7869C>T | |
| 1 | g.110064587C>A | CA341584066 | ALX3,STRIP1 | c.594G>T (p.Gln198His) c.165G>T (p.Gln55His) n.4214-7868C>A | |
| 1 | g.110064587C>G | CA341584069 | ALX3,STRIP1 | c.594G>C (p.Gln198His) c.165G>C (p.Gln55His) n.4214-7868C>G | |
| 1 | g.110064587C>T | CA419401482 | ALX3,STRIP1 | c.594G>A (p.Gln198=) c.165G>A (p.Gln55=) n.4214-7868C>T | |
| 1 | g.110064588T>A | CA341584075 | ALX3,STRIP1 | c.593A>T (p.Gln198Leu) c.164A>T (p.Gln55Leu) n.4214-7867T>A | |
| 1 | g.110064588T>C | CA341584078 | ALX3,STRIP1 | c.593A>G (p.Gln198Arg) c.164A>G (p.Gln55Arg) n.4214-7867T>C | gnomAD v4 |
| 1 | g.110064588T>G | CA341584072 | ALX3,STRIP1 | c.593A>C (p.Gln198Pro) c.164A>C (p.Gln55Pro) n.4214-7867T>G | |
| 1 | g.110064589G>A | CA341584082 | ALX3,STRIP1 | c.592C>T (p.Gln198Ter) c.163C>T (p.Gln55Ter) n.4214-7866G>A | ClinVar COSMIC |
| 1 | g.110064589G>C | CA341584084 | ALX3,STRIP1 | c.592C>G (p.Gln198Glu) c.163C>G (p.Gln55Glu) n.4214-7866G>C | |
| 1 | g.110064589G>T | CA341584087 | ALX3,STRIP1 | c.592C>A (p.Gln198Lys) c.163C>A (p.Gln55Lys) n.4214-7866G>T | |
| 1 | g.110064590T>A | CA419401483 | ALX3,STRIP1 | c.591A>T (p.Val197=) c.162A>T (p.Val54=) n.4214-7865T>A | |
| 1 | g.110064590T>C | CA419401484 | ALX3,STRIP1 | c.591A>G (p.Val197=) c.162A>G (p.Val54=) n.4214-7865T>C | |
| 1 | g.110064590T>G | CA419401485 | ALX3,STRIP1 | c.591A>C (p.Val197=) c.162A>C (p.Val54=) n.4214-7865T>G | |
| 1 | g.110064591A>C | CA341584090 | ALX3,STRIP1 | c.590T>G (p.Val197Gly) c.161T>G (p.Val54Gly) n.4214-7864A>C | |
| 1 | g.110064591A>G | CA341584094 | ALX3,STRIP1 | c.590T>C (p.Val197Ala) c.161T>C (p.Val54Ala) n.4214-7864A>G | |
| 1 | g.110064591A>T | CA341584096 | ALX3,STRIP1 | c.590T>A (p.Val197Glu) c.161T>A (p.Val54Glu) n.4214-7864A>T | |
| 1 | g.110064592C>A | CA341584105 | ALX3,STRIP1 | c.589G>T (p.Val197Leu) c.160G>T (p.Val54Leu) n.4214-7863C>A | |
| 1 | g.110064592C>G | CA341584101 | ALX3,STRIP1 | c.589G>C (p.Val197Leu) c.160G>C (p.Val54Leu) n.4214-7863C>G | |
| 1 | g.110064592C>T | CA341584103 | ALX3,STRIP1 | c.589G>A (p.Val197Ile) c.160G>A (p.Val54Ile) n.4214-7863C>T | gnomAD v4 |
| 1 | g.110064593C>A | CA419401486 | ALX3,STRIP1 | c.588G>T (p.Arg196=) c.159G>T (p.Arg53=) n.4214-7862C>A | |
| 1 | g.110064593C>G | CA419401487 | ALX3,STRIP1 | c.588G>C (p.Arg196=) c.159G>C (p.Arg53=) n.4214-7862C>G | |
| 1 | g.110064593C>T | CA419401488 | ALX3,STRIP1 | c.588G>A (p.Arg196=) c.159G>A (p.Arg53=) n.4214-7862C>T | |
| 1 | g.110064594C>A | CA28739405 | ALX3,STRIP1 | c.587G>T (p.Arg196Leu) c.158G>T (p.Arg53Leu) n.4214-7861C>A | dbSNP |
| 1 | g.110064594C= | CA1141271153 | ALX3,STRIP1 | c.587G= (p.Arg196=) c.158G= (p.Arg53=) n.4214-7861C= | |
| 1 | g.110064594C>G | CA341584111 | ALX3,STRIP1 | c.587G>C (p.Arg196Pro) c.158G>C (p.Arg53Pro) n.4214-7861C>G | |
| 1 | g.110064594C>T | CA341584113 | ALX3,STRIP1 | c.587G>A (p.Arg196Gln) c.158G>A (p.Arg53Gln) n.4214-7861C>T | gnomAD v4 COSMIC |
| 1 | g.110064595G>A | CA116986 | ALX3,STRIP1 | c.586C>T (p.Arg196Trp) c.157C>T (p.Arg53Trp) n.4214-7860G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110064595G>C | CA341584119 | ALX3,STRIP1 | c.586C>G (p.Arg196Gly) c.157C>G (p.Arg53Gly) n.4214-7860G>C | |
| 1 | g.110064595G= | CA1141580971 | ALX3,STRIP1 | c.586C= (p.Arg196=) c.157C= (p.Arg53=) n.4214-7860G= | |
| 1 | g.110064595G>T | CA419401489 | ALX3,STRIP1 | c.586C>A (p.Arg196=) c.157C>A (p.Arg53=) n.4214-7860G>T | |
| 1 | g.110064600_110064623del | CA2647013845 | ALX3,STRIP1 | c.563_586del (p.Leu188_Ala195del) c.134_157del (p.Leu45_Ala52del) n.4214-7855_4214-7832del | gnomAD v4 |
| 1 | g.110064596G>A | CA419401490 | ALX3,STRIP1 | c.585C>T (p.Ala195=) c.156C>T (p.Ala52=) n.4214-7859G>A | |
| 1 | g.110064596G>C | CA419401491 | ALX3,STRIP1 | c.585C>G (p.Ala195=) c.156C>G (p.Ala52=) n.4214-7859G>C | dbSNP gnomAD v4 |
| 1 | g.110064596G= | CA1188354908 | ALX3,STRIP1 | c.585C= (p.Ala195=) c.156C= (p.Ala52=) n.4214-7859G= | |
| 1 | g.110064596G>T | CA419401492 | ALX3,STRIP1 | c.585C>A (p.Ala195=) c.156C>A (p.Ala52=) n.4214-7859G>T | |
| 1 | g.110064597G>A | CA341584123 | ALX3,STRIP1 | c.584C>T (p.Ala195Val) c.155C>T (p.Ala52Val) n.4214-7858G>A | |
| 1 | g.110064597G>C | CA341584130 | ALX3,STRIP1 | c.584C>G (p.Ala195Gly) c.155C>G (p.Ala52Gly) n.4214-7858G>C | |
| 1 | g.110064597G>T | CA341584126 | ALX3,STRIP1 | c.584C>A (p.Ala195Asp) c.155C>A (p.Ala52Asp) n.4214-7858G>T | gnomAD v4 |
| 1 | g.110064598C>A | CA341584134 | ALX3,STRIP1 | c.583G>T (p.Ala195Ser) c.154G>T (p.Ala52Ser) n.4214-7857C>A | |
| 1 | g.110064598C= | CA1188354909 | ALX3,STRIP1 | c.583G= (p.Ala195=) c.154G= (p.Ala52=) n.4214-7857C= | |
| 1 | g.110064598C>G | CA341584137 | ALX3,STRIP1 | c.583G>C (p.Ala195Pro) c.154G>C (p.Ala52Pro) n.4214-7857C>G | |
| 1 | g.110064598C>T | CA341584140 | ALX3,STRIP1 | c.583G>A (p.Ala195Thr) c.154G>A (p.Ala52Thr) n.4214-7857C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.110064599C>A | CA341584143 | ALX3,STRIP1 | c.582G>T (p.Glu194Asp) c.153G>T (p.Glu51Asp) n.4214-7856C>A |