UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 1 | g.110064599C= | CA1188354910 | ALX3,STRIP1 | c.582G= (p.Glu194=) c.153G= (p.Glu51=) n.4214-7856C= | |
| 1 | g.110064599C>G | CA997572 | ALX3,STRIP1 | c.582G>C (p.Glu194Asp) c.153G>C (p.Glu51Asp) n.4214-7856C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.110064599C>T | CA419401493 | ALX3,STRIP1 | c.582G>A (p.Glu194=) c.153G>A (p.Glu51=) n.4214-7856C>T | gnomAD v4 |
| 1 | g.110064599_110064603delinsCTCAG | CA1188354911 | ALX3,STRIP1 | c.578_582delinsCTGAG (p.Thr193=) c.149_153delinsCTGAG (p.Thr50=) n.4214-7856_4214-7852delinsCTCAG | |
| 1 | g.110064600T>A | CA341584150 | ALX3,STRIP1 | c.581A>T (p.Glu194Val) c.152A>T (p.Glu51Val) n.4214-7855T>A | |
| 1 | g.110064600T>C | CA341584152 | ALX3,STRIP1 | c.581A>G (p.Glu194Gly) c.152A>G (p.Glu51Gly) n.4214-7855T>C | |
| 1 | g.110064600T>G | CA341584157 | ALX3,STRIP1 | c.581A>C (p.Glu194Ala) c.152A>C (p.Glu51Ala) n.4214-7855T>G | |
| 1 | g.110064600_110064607delinsTCAGTCAG | CA1144228927 | ALX3,STRIP1 | c.574_581delinsCTGACTGA (p.Leu192=) c.145_152delinsCTGACTGA (p.Leu49=) n.4214-7855_4214-7848delinsTCAGTCAG | |
| 1 | g.110064604_110064607del | CA116985 | ALX3,STRIP1 | c.578_581del (p.Thr193ArgfsTer?) c.149_152del (p.Thr50ArgfsTer?) n.4214-7851_4214-7848del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.110064601C>A | CA341584164 | ALX3,STRIP1 | c.580G>T (p.Glu194Ter) c.151G>T (p.Glu51Ter) n.4214-7854C>A | |
| 1 | g.110064601C= | CA1188354912 | ALX3,STRIP1 | c.580G= (p.Glu194=) c.151G= (p.Glu51=) n.4214-7854C= | |
| 1 | g.110064601C>G | CA341584167 | ALX3,STRIP1 | c.580G>C (p.Glu194Gln) c.151G>C (p.Glu51Gln) n.4214-7854C>G | |
| 1 | g.110064601C>T | CA341584170 | ALX3,STRIP1 | c.580G>A (p.Glu194Lys) c.151G>A (p.Glu51Lys) n.4214-7854C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.110064601_110064602del | CA2647013872 | ALX3,STRIP1 | c.579_580del (p.Glu194GlyfsTer?) c.150_151del (p.Glu51GlyfsTer?) n.4214-7854_4214-7853del | gnomAD v4 |
| 1 | g.110064602A>C | CA419401494 | ALX3,STRIP1 | c.579T>G (p.Thr193=) c.150T>G (p.Thr50=) n.4214-7853A>C | |
| 1 | g.110064602A>G | CA419401495 | ALX3,STRIP1 | c.579T>C (p.Thr193=) c.150T>C (p.Thr50=) n.4214-7853A>G | dbSNP |
| 1 | g.110064602A>T | CA419401496 | ALX3,STRIP1 | c.579T>A (p.Thr193=) c.150T>A (p.Thr50=) n.4214-7853A>T | |
| 1 | g.110064603G>A | CA341584178 | ALX3,STRIP1 | c.578C>T (p.Thr193Ile) c.149C>T (p.Thr50Ile) n.4214-7852G>A | |
| 1 | g.110064603G>C | CA341584181 | ALX3,STRIP1 | c.578C>G (p.Thr193Ser) c.149C>G (p.Thr50Ser) n.4214-7852G>C | dbSNP |
| 1 | g.110064603G= | CA1188354913 | ALX3,STRIP1 | c.578C= (p.Thr193=) c.149C= (p.Thr50=) n.4214-7852G= | |
| 1 | g.110064603G>T | CA341584175 | ALX3,STRIP1 | c.578C>A (p.Thr193Asn) c.149C>A (p.Thr50Asn) n.4214-7852G>T | |
| 1 | g.110064604T>A | CA341584191 | ALX3,STRIP1 | c.577A>T (p.Thr193Ser) c.148A>T (p.Thr50Ser) n.4214-7851T>A | |
| 1 | g.110064604T>C | CA341584186 | ALX3,STRIP1 | c.577A>G (p.Thr193Ala) c.148A>G (p.Thr50Ala) n.4214-7851T>C | |
| 1 | g.110064604T>G | CA341584189 | ALX3,STRIP1 | c.577A>C (p.Thr193Pro) c.148A>C (p.Thr50Pro) n.4214-7851T>G | |
| 1 | g.110064605C>A | CA419401497 | ALX3,STRIP1 | c.576G>T (p.Leu192=) c.147G>T (p.Leu49=) n.4214-7850C>A | |
| 1 | g.110064605C>G | CA419401498 | ALX3,STRIP1 | c.576G>C (p.Leu192=) c.147G>C (p.Leu49=) n.4214-7850C>G | |
| 1 | g.110064605C>T | CA419401499 | ALX3,STRIP1 | c.576G>A (p.Leu192=) c.147G>A (p.Leu49=) n.4214-7850C>T | |
| 1 | g.110064606A>C | CA341584194 | ALX3,STRIP1 | c.575T>G (p.Leu192Arg) c.146T>G (p.Leu49Arg) n.4214-7849A>C | |
| 1 | g.110064606A>G | CA341584197 | ALX3,STRIP1 | c.575T>C (p.Leu192Pro) c.146T>C (p.Leu49Pro) n.4214-7849A>G | |
| 1 | g.110064606A>T | CA341584199 | ALX3,STRIP1 | c.575T>A (p.Leu192Gln) c.146T>A (p.Leu49Gln) n.4214-7849A>T | |
| 1 | g.110064607G>A | CA419401500 | ALX3,STRIP1 | c.574C>T (p.Leu192=) c.145C>T (p.Leu49=) n.4214-7848G>A | |
| 1 | g.110064607G>C | CA341584204 | ALX3,STRIP1 | c.574C>G (p.Leu192Val) c.145C>G (p.Leu49Val) n.4214-7848G>C | |
| 1 | g.110064607G= | CA1188354914 | ALX3,STRIP1 | c.574C= (p.Leu192=) c.145C= (p.Leu49=) n.4214-7848G= | |
| 1 | g.110064607G>T | CA28739449 | ALX3,STRIP1 | c.574C>A (p.Leu192Met) c.145C>A (p.Leu49Met) n.4214-7848G>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.110064608G>A | CA419401501 | ALX3,STRIP1 | c.573C>T (p.Asp191=) c.144C>T (p.Asp48=) n.4214-7847G>A | |
| 1 | g.110064608G>C | CA341584208 | ALX3,STRIP1 | c.573C>G (p.Asp191Glu) c.144C>G (p.Asp48Glu) n.4214-7847G>C | |
| 1 | g.110064608G>T | CA341584211 | ALX3,STRIP1 | c.573C>A (p.Asp191Glu) c.144C>A (p.Asp48Glu) n.4214-7847G>T | |
| 1 | g.110064609T>A | CA341584215 | ALX3,STRIP1 | c.572A>T (p.Asp191Val) c.143A>T (p.Asp48Val) n.4214-7846T>A | |
| 1 | g.110064609T>C | CA341584218 | ALX3,STRIP1 | c.572A>G (p.Asp191Gly) c.143A>G (p.Asp48Gly) n.4214-7846T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110064609T>G | CA341584222 | ALX3,STRIP1 | c.572A>C (p.Asp191Ala) c.143A>C (p.Asp48Ala) n.4214-7846T>G | |
| 1 | g.110064609T= | CA1188354915 | ALX3,STRIP1 | c.572A= (p.Asp191=) c.143A= (p.Asp48=) n.4214-7846T= | |
| 1 | g.110064610C>A | CA341584229 | ALX3,STRIP1 | c.571G>T (p.Asp191Tyr) c.142G>T (p.Asp48Tyr) n.4214-7845C>A | |
| 1 | g.110064610C>G | CA341584233 | ALX3,STRIP1 | c.571G>C (p.Asp191His) c.142G>C (p.Asp48His) n.4214-7845C>G | |
| 1 | g.110064610C>T | CA341584227 | ALX3,STRIP1 | c.571G>A (p.Asp191Asn) c.142G>A (p.Asp48Asn) n.4214-7845C>T | |
| 1 | g.110064610_110064612delinsCTG | CA1188354916 | ALX3,STRIP1 | c.569_571delinsCAG (p.Thr190=) c.140_142delinsCAG (p.Thr47=) n.4214-7845_4214-7843delinsCTG | |
| 1 | g.110064611T>A | CA419401502 | ALX3,STRIP1 | c.570A>T (p.Thr190=) c.141A>T (p.Thr47=) n.4214-7844T>A | |
| 1 | g.110064611T>C | CA419401503 | ALX3,STRIP1 | c.570A>G (p.Thr190=) c.141A>G (p.Thr47=) n.4214-7844T>C | |
| 1 | g.110064611T>G | CA419401504 | ALX3,STRIP1 | c.570A>C (p.Thr190=) c.141A>C (p.Thr47=) n.4214-7844T>G | |
| 1 | g.110064613_110064614del | CA1188354917 | ALX3,STRIP1 | c.569_570del (p.Thr190ArgfsTer4) c.140_141del (p.Thr47ArgfsTer4) n.4214-7842_4214-7841del | dbSNP |
| 1 | g.110064612G>A | CA341584236 | ALX3,STRIP1 | c.569C>T (p.Thr190Ile) c.140C>T (p.Thr47Ile) n.4214-7843G>A | gnomAD v4 |
| 1 | g.110064612G>C | CA341584239 | ALX3,STRIP1 | c.569C>G (p.Thr190Arg) c.140C>G (p.Thr47Arg) n.4214-7843G>C | gnomAD v4 |
| 1 | g.110064612G>T | CA341584241 | ALX3,STRIP1 | c.569C>A (p.Thr190Lys) c.140C>A (p.Thr47Lys) n.4214-7843G>T | |
| 1 | g.110064613T>A | CA341584247 | ALX3,STRIP1 | c.568A>T (p.Thr190Ser) c.139A>T (p.Thr47Ser) n.4214-7842T>A | gnomAD v4 |
| 1 | g.110064613T>C | CA341584249 | ALX3,STRIP1 | c.568A>G (p.Thr190Ala) c.139A>G (p.Thr47Ala) n.4214-7842T>C | |
| 1 | g.110064613T>G | CA341584251 | ALX3,STRIP1 | c.568A>C (p.Thr190Pro) c.139A>C (p.Thr47Pro) n.4214-7842T>G | |
| 1 | g.110064614G>A | CA419401505 | ALX3,STRIP1 | c.567C>T (p.Arg189=) c.138C>T (p.Arg46=) n.4214-7841G>A | |
| 1 | g.110064614G>C | CA419401506 | ALX3,STRIP1 | c.567C>G (p.Arg189=) c.138C>G (p.Arg46=) n.4214-7841G>C | |
| 1 | g.110064614G>T | CA419401507 | ALX3,STRIP1 | c.567C>A (p.Arg189=) c.138C>A (p.Arg46=) n.4214-7841G>T | |
| 1 | g.110064615C>A | CA341584283 | ALX3,STRIP1 | c.566G>T (p.Arg189Leu) c.137G>T (p.Arg46Leu) n.4214-7840C>A | |
| 1 | g.110064615C= | CA1143387669 | ALX3,STRIP1 | c.566G= (p.Arg189=) c.137G= (p.Arg46=) n.4214-7840C= | |
| 1 | g.110064615C>G | CA341584288 | ALX3,STRIP1 | c.566G>C (p.Arg189Pro) c.137G>C (p.Arg46Pro) n.4214-7840C>G | |
| 1 | g.110064615C>T | CA997573 | ALX3,STRIP1 | c.566G>A (p.Arg189His) c.137G>A (p.Arg46His) n.4214-7840C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110064616G>A | CA997574 | ALX3,STRIP1 | c.565C>T (p.Arg189Cys) c.136C>T (p.Arg46Cys) n.4214-7839G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110064616G>C | CA341584292 | ALX3,STRIP1 | c.565C>G (p.Arg189Gly) c.136C>G (p.Arg46Gly) n.4214-7839G>C | |
| 1 | g.110064616G= | CA1188354918 | ALX3,STRIP1 | c.565C= (p.Arg189=) c.136C= (p.Arg46=) n.4214-7839G= | |
| 1 | g.110064616G>T | CA341584295 | ALX3,STRIP1 | c.565C>A (p.Arg189Ser) c.136C>A (p.Arg46Ser) n.4214-7839G>T | |
| 1 | g.110064617C>A | CA419401508 | ALX3,STRIP1 | c.564G>T (p.Leu188=) c.135G>T (p.Leu45=) n.4214-7838C>A | |
| 1 | g.110064617C= | CA1188354919 | ALX3,STRIP1 | c.564G= (p.Leu188=) c.135G= (p.Leu45=) n.4214-7838C= | |
| 1 | g.110064617C>G | CA997575 | ALX3,STRIP1 | c.564G>C (p.Leu188=) c.135G>C (p.Leu45=) n.4214-7838C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.110064617C>T | CA419401509 | ALX3,STRIP1 | c.564G>A (p.Leu188=) c.135G>A (p.Leu45=) n.4214-7838C>T | gnomAD v4 |
| 1 | g.110064618A>C | CA341584307 | ALX3,STRIP1 | c.563T>G (p.Leu188Arg) c.134T>G (p.Leu45Arg) n.4214-7837A>C | |
| 1 | g.110064618A>G | CA341584305 | ALX3,STRIP1 | c.563T>C (p.Leu188Pro) c.134T>C (p.Leu45Pro) n.4214-7837A>G | |
| 1 | g.110064618A>T | CA341584303 | ALX3,STRIP1 | c.563T>A (p.Leu188Gln) c.134T>A (p.Leu45Gln) n.4214-7837A>T | |
| 1 | g.110064618_110064619delinsAG | CA1188354920 | ALX3,STRIP1 | c.562_563delinsCT (p.Leu188=) c.133_134delinsCT (p.Leu45=) n.4214-7837_4214-7836delinsAG | |
| 1 | g.110064619G>A | CA419401510 | ALX3,STRIP1 | c.562C>T (p.Leu188=) c.133C>T (p.Leu45=) n.4214-7836G>A | |
| 1 | g.110064619G>C | CA341584312 | ALX3,STRIP1 | c.562C>G (p.Leu188Val) c.133C>G (p.Leu45Val) n.4214-7836G>C | gnomAD v4 |
| 1 | g.110064619G>T | CA341584314 | ALX3,STRIP1 | c.562C>A (p.Leu188Met) c.133C>A (p.Leu45Met) n.4214-7836G>T | |
| 1 | g.110064621del | CA1188354921 | ALX3,STRIP1 | c.562del (p.Leu188CysfsTer5) c.133del (p.Leu45CysfsTer5) n.4214-7834del | dbSNP |
| 1 | g.110064620G>A | CA419401511 | ALX3,STRIP1 | c.561C>T (p.Ala187=) c.132C>T (p.Ala44=) n.4214-7835G>A | dbSNP |
| 1 | g.110064620G>C | CA419401513 | ALX3,STRIP1 | c.561C>G (p.Ala187=) c.132C>G (p.Ala44=) n.4214-7835G>C | |
| 1 | g.110064620G= | CA1188354922 | ALX3,STRIP1 | c.561C= (p.Ala187=) c.132C= (p.Ala44=) n.4214-7835G= | |
| 1 | g.110064620G>T | CA419401512 | ALX3,STRIP1 | c.561C>A (p.Ala187=) c.132C>A (p.Ala44=) n.4214-7835G>T | gnomAD v4 |
| 1 | g.110064621G>A | CA341584318 | ALX3,STRIP1 | c.560C>T (p.Ala187Val) c.131C>T (p.Ala44Val) n.4214-7834G>A | gnomAD v4 |
| 1 | g.110064621G>C | CA341584321 | ALX3,STRIP1 | c.560C>G (p.Ala187Gly) c.131C>G (p.Ala44Gly) n.4214-7834G>C | |
| 1 | g.110064621G>T | CA341584322 | ALX3,STRIP1 | c.560C>A (p.Ala187Asp) c.131C>A (p.Ala44Asp) n.4214-7834G>T | |
| 1 | g.110064622C>A | CA341584324 | ALX3,STRIP1 | c.559G>T (p.Ala187Ser) c.130G>T (p.Ala44Ser) n.4214-7833C>A | |
| 1 | g.110064622C>G | CA341584326 | ALX3,STRIP1 | c.559G>C (p.Ala187Pro) c.130G>C (p.Ala44Pro) n.4214-7833C>G | |
| 1 | g.110064622C>T | CA341584328 | ALX3,STRIP1 | c.559G>A (p.Ala187Thr) c.130G>A (p.Ala44Thr) n.4214-7833C>T | |
| 1 | g.110064623C>A | CA419401514 | ALX3,STRIP1 | c.558G>T (p.Leu186=) c.129G>T (p.Leu43=) n.4214-7832C>A | |
| 1 | g.110064623C>G | CA419401515 | ALX3,STRIP1 | c.558G>C (p.Leu186=) c.129G>C (p.Leu43=) n.4214-7832C>G | |
| 1 | g.110064623C>T | CA419401516 | ALX3,STRIP1 | c.558G>A (p.Leu186=) c.129G>A (p.Leu43=) n.4214-7832C>T | |
| 1 | g.110064624A>C | CA341584330 | ALX3,STRIP1 | c.557T>G (p.Leu186Arg) c.128T>G (p.Leu43Arg) n.4214-7831A>C | |
| 1 | g.110064624A>G | CA341584335 | ALX3,STRIP1 | c.557T>C (p.Leu186Pro) c.128T>C (p.Leu43Pro) n.4214-7831A>G | |
| 1 | g.110064624A>T | CA341584333 | ALX3,STRIP1 | c.557T>A (p.Leu186Gln) c.128T>A (p.Leu43Gln) n.4214-7831A>T | |
| 1 | g.110064625G>A | CA419401517 | ALX3,STRIP1 | c.556C>T (p.Leu186=) c.127C>T (p.Leu43=) n.4214-7830G>A | |
| 1 | g.110064625G>C | CA341584337 | ALX3,STRIP1 | c.556C>G (p.Leu186Val) c.127C>G (p.Leu43Val) n.4214-7830G>C | ClinVar |
| 1 | g.110064625G>T | CA341584340 | ALX3,STRIP1 | c.556C>A (p.Leu186Met) c.127C>A (p.Leu43Met) n.4214-7830G>T | |
| 1 | g.110064626C>A | CA341584342 | ALX3,STRIP1 | c.555G>T (p.Gln185His) c.126G>T (p.Gln42His) n.4214-7829C>A | |
| 1 | g.110064626C>G | CA341584343 | ALX3,STRIP1 | c.555G>C (p.Gln185His) c.126G>C (p.Gln42His) n.4214-7829C>G | |
| 1 | g.110064626C>T | CA419401518 | ALX3,STRIP1 | c.555G>A (p.Gln185=) c.126G>A (p.Gln42=) n.4214-7829C>T | |
| 1 | g.110064627T>A | CA341584345 | ALX3,STRIP1 | c.554A>T (p.Gln185Leu) c.125A>T (p.Gln42Leu) n.4214-7828T>A | |
| 1 | g.110064627T>C | CA341584349 | ALX3,STRIP1 | c.554A>G (p.Gln185Arg) c.125A>G (p.Gln42Arg) n.4214-7828T>C | |
| 1 | g.110064627T>G | CA341584348 | ALX3,STRIP1 | c.554A>C (p.Gln185Pro) c.125A>C (p.Gln42Pro) n.4214-7828T>G | |
| 1 | g.110064628G>A | CA341584352 | ALX3,STRIP1 | c.553C>T (p.Gln185Ter) c.124C>T (p.Gln42Ter) n.4214-7827G>A | |
| 1 | g.110064628G>C | CA341584353 | ALX3,STRIP1 | c.553C>G (p.Gln185Glu) c.124C>G (p.Gln42Glu) n.4214-7827G>C | |
| 1 | g.110064628G>T | CA341584355 | ALX3,STRIP1 | c.553C>A (p.Gln185Lys) c.124C>A (p.Gln42Lys) n.4214-7827G>T | |
| 1 | g.110064629C>A | CA341584357 | ALX3,STRIP1 | c.552G>T (p.Glu184Asp) c.123G>T (p.Glu41Asp) n.4214-7826C>A | |
| 1 | g.110064629C>G | CA341584360 | ALX3,STRIP1 | c.552G>C (p.Glu184Asp) c.123G>C (p.Glu41Asp) n.4214-7826C>G | |
| 1 | g.110064629C>T | CA419401519 | ALX3,STRIP1 | c.552G>A (p.Glu184=) c.123G>A (p.Glu41=) n.4214-7826C>T | |
| 1 | g.110064630T>A | CA341584363 | ALX3,STRIP1 | c.551A>T (p.Glu184Val) c.122A>T (p.Glu41Val) n.4214-7825T>A | |
| 1 | g.110064630T>C | CA341584364 | ALX3,STRIP1 | c.551A>G (p.Glu184Gly) c.122A>G (p.Glu41Gly) n.4214-7825T>C | |
| 1 | g.110064630T>G | CA341584366 | ALX3,STRIP1 | c.551A>C (p.Glu184Ala) c.122A>C (p.Glu41Ala) n.4214-7825T>G | |
| 1 | g.110064631C>A | CA341584369 | ALX3,STRIP1 | c.550G>T (p.Glu184Ter) c.121G>T (p.Glu41Ter) n.4214-7824C>A | |
| 1 | g.110064631C>G | CA341584371 | ALX3,STRIP1 | c.550G>C (p.Glu184Gln) c.121G>C (p.Glu41Gln) n.4214-7824C>G | |
| 1 | g.110064631C>T | CA341584372 | ALX3,STRIP1 | c.550G>A (p.Glu184Lys) c.121G>A (p.Glu41Lys) n.4214-7824C>T | |
| 1 | g.110064632C>A | CA419401520 | ALX3,STRIP1 | c.549G>T (p.Arg183=) c.120G>T (p.Arg40=) n.4214-7823C>A | |
| 1 | g.110064632C>G | CA419401521 | ALX3,STRIP1 | c.549G>C (p.Arg183=) c.120G>C (p.Arg40=) n.4214-7823C>G | |
| 1 | g.110064632C>T | CA419401522 | ALX3,STRIP1 | c.549G>A (p.Arg183=) c.120G>A (p.Arg40=) n.4214-7823C>T | |
| 1 | g.110064633C>A | CA997577 | ALX3,STRIP1 | c.548G>T (p.Arg183Leu) c.119G>T (p.Arg40Leu) n.4214-7822C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.110064633C= | CA1188354923 | ALX3,STRIP1 | c.548G= (p.Arg183=) c.119G= (p.Arg40=) n.4214-7822C= | |
| 1 | g.110064633C>G | CA341584379 | ALX3,STRIP1 | c.548G>C (p.Arg183Pro) c.119G>C (p.Arg40Pro) n.4214-7822C>G | |
| 1 | g.110064633C>T | CA997576 | ALX3,STRIP1 | c.548G>A (p.Arg183Gln) c.119G>A (p.Arg40Gln) n.4214-7822C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110064634G>A | CA116982 | ALX3,STRIP1 | c.547C>T (p.Arg183Trp) c.118C>T (p.Arg40Trp) n.4214-7821G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.110064634G>C | CA341584386 | ALX3,STRIP1 | c.547C>G (p.Arg183Gly) c.118C>G (p.Arg40Gly) n.4214-7821G>C | dbSNP |
| 1 | g.110064634G= | CA1141580972 | ALX3,STRIP1 | c.547C= (p.Arg183=) c.118C= (p.Arg40=) n.4214-7821G= | |
| 1 | g.110064634G>T | CA419401523 | ALX3,STRIP1 | c.547C>A (p.Arg183=) c.118C>A (p.Arg40=) n.4214-7821G>T | |
| 1 | g.110064634_110064635delinsAA | CA645537776 | ALX3,STRIP1 | c.546_547delinsTT (p.Arg183Trp) c.117_118delinsTT (p.Arg40Trp) n.4214-7821_4214-7820delinsAA | COSMIC |
| 1 | g.110064635G>A | CA419401524 | ALX3,STRIP1 | c.546C>T (p.Ala182=) c.117C>T (p.Ala39=) n.4214-7820G>A | |
| 1 | g.110064635G>C | CA419401525 | ALX3,STRIP1 | c.546C>G (p.Ala182=) c.117C>G (p.Ala39=) n.4214-7820G>C | |
| 1 | g.110064635G>T | CA419401526 | ALX3,STRIP1 | c.546C>A (p.Ala182=) c.117C>A (p.Ala39=) n.4214-7820G>T | |
| 1 | g.110064636G>A | CA341584391 | ALX3,STRIP1 | c.545C>T (p.Ala182Val) c.116C>T (p.Ala39Val) n.4214-7819G>A | |
| 1 | g.110064636G>C | CA341584393 | ALX3,STRIP1 | c.545C>G (p.Ala182Gly) c.116C>G (p.Ala39Gly) n.4214-7819G>C | |
| 1 | g.110064636G>T | CA341584395 | ALX3,STRIP1 | c.545C>A (p.Ala182Asp) c.116C>A (p.Ala39Asp) n.4214-7819G>T | |
| 1 | g.110064637C>A | CA341584398 | ALX3,STRIP1 | c.544G>T (p.Ala182Ser) c.115G>T (p.Ala39Ser) n.4214-7818C>A | |
| 1 | g.110064637C>G | CA341584401 | ALX3,STRIP1 | c.544G>C (p.Ala182Pro) c.115G>C (p.Ala39Pro) n.4214-7818C>G | |
| 1 | g.110064637C>T | CA341584404 | ALX3,STRIP1 | c.544G>A (p.Ala182Thr) c.115G>A (p.Ala39Thr) n.4214-7818C>T | |
| 1 | g.110064638A= | CA1141580973 | ALX3,STRIP1 | c.543T= (p.Tyr181=) c.114T= (p.Tyr38=) n.4214-7817A= | |
| 1 | g.110064638A>C | CA341584407 | ALX3,STRIP1 | c.543T>G (p.Tyr181Ter) c.114T>G (p.Tyr38Ter) n.4214-7817A>C | |
| 1 | g.110064638A>G | CA419401527 | ALX3,STRIP1 | c.543T>C (p.Tyr181=) c.114T>C (p.Tyr38=) n.4214-7817A>G | dbSNP |
| 1 | g.110064638A>T | CA116983 | ALX3,STRIP1 | c.543T>A (p.Tyr181Ter) c.114T>A (p.Tyr38Ter) n.4214-7817A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110064639T>A | CA341584415 | ALX3,STRIP1 | c.542A>T (p.Tyr181Phe) c.113A>T (p.Tyr38Phe) n.4214-7816T>A | |
| 1 | g.110064639T>C | CA341584419 | ALX3,STRIP1 | c.542A>G (p.Tyr181Cys) c.113A>G (p.Tyr38Cys) n.4214-7816T>C | gnomAD v4 |
| 1 | g.110064639T>G | CA341584422 | ALX3,STRIP1 | c.542A>C (p.Tyr181Ser) c.113A>C (p.Tyr38Ser) n.4214-7816T>G | |
| 1 | g.110064640A>C | CA341584426 | ALX3,STRIP1 | c.541T>G (p.Tyr181Asp) c.112T>G (p.Tyr38Asp) n.4214-7815A>C | |
| 1 | g.110064640A>G | CA341584429 | ALX3,STRIP1 | c.541T>C (p.Tyr181His) c.112T>C (p.Tyr38His) n.4214-7815A>G | |
| 1 | g.110064640A>T | CA341584432 | ALX3,STRIP1 | c.541T>A (p.Tyr181Asn) c.112T>A (p.Tyr38Asn) n.4214-7815A>T | |
| 1 | g.110064641C>A | CA419686601 | ALX3,STRIP1 | c.540G>T (p.Val180=) c.111G>T (p.Val37=) n.4214-7814C>A | |
| 1 | g.110064641C= | CA1188354924 | ALX3,STRIP1 | c.540G= (p.Val180=) c.111G= (p.Val37=) n.4214-7814C= | |
| 1 | g.110064641C>G | CA419686603 | ALX3,STRIP1 | c.540G>C (p.Val180=) c.111G>C (p.Val37=) n.4214-7814C>G | |
| 1 | g.110064641C>T | CA419686605 | ALX3,STRIP1 | c.540G>A (p.Val180=) c.111G>A (p.Val37=) n.4214-7814C>T | dbSNP gnomAD v4 |
| 1 | g.110064642A= | CA1188354926 | ALX3,STRIP1 | c.539T= (p.Val180=) c.110T= (p.Val37=) n.4214-7813A= | |
| 1 | g.110064642A>C | CA341584441 | ALX3,STRIP1 | c.539T>G (p.Val180Gly) c.110T>G (p.Val37Gly) n.4214-7813A>C | |
| 1 | g.110064642A>G | CA341584439 | ALX3,STRIP1 | c.539T>C (p.Val180Ala) c.110T>C (p.Val37Ala) n.4214-7813A>G | dbSNP |
| 1 | g.110064642A>T | CA341584437 | ALX3,STRIP1 | c.539T>A (p.Val180Glu) c.110T>A (p.Val37Glu) n.4214-7813A>T | |
| 1 | g.110064642_110064645delinsACAT | CA1188354925 | ALX3,STRIP1 | c.536_539delinsATGT (p.Asp179=) c.107_110delinsATGT (p.Asp36=) n.4214-7813_4214-7810delinsACAT | |
| 1 | g.110064643C>A | CA341584444 | ALX3,STRIP1 | c.538G>T (p.Val180Leu) c.109G>T (p.Val37Leu) n.4214-7812C>A | |
| 1 | g.110064643C>G | CA341584448 | ALX3,STRIP1 | c.538G>C (p.Val180Leu) c.109G>C (p.Val37Leu) n.4214-7812C>G | |
| 1 | g.110064643C>T | CA341584451 | ALX3,STRIP1 | c.538G>A (p.Val180Met) c.109G>A (p.Val37Met) n.4214-7812C>T | |
| 1 | g.110064645_110064647del | CA525627330 | ALX3,STRIP1 | c.536_538del (p.Asp179del) c.107_109del (p.Asp36del) n.4214-7810_4214-7808del | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.110064644A>C | CA341584454 | ALX3,STRIP1 | c.537T>G (p.Asp179Glu) c.108T>G (p.Asp36Glu) n.4214-7811A>C | |
| 1 | g.110064644A>G | CA419686613 | ALX3,STRIP1 | c.537T>C (p.Asp179=) c.108T>C (p.Asp36=) n.4214-7811A>G | gnomAD v4 |
| 1 | g.110064644A>T | CA341584457 | ALX3,STRIP1 | c.537T>A (p.Asp179Glu) c.108T>A (p.Asp36Glu) n.4214-7811A>T | |
| 1 | g.110064645T>A | CA341584460 | ALX3,STRIP1 | c.536A>T (p.Asp179Val) c.107A>T (p.Asp36Val) n.4214-7810T>A | |
| 1 | g.110064645T>C | CA341584463 | ALX3,STRIP1 | c.536A>G (p.Asp179Gly) c.107A>G (p.Asp36Gly) n.4214-7810T>C | |
| 1 | g.110064645T>G | CA341584465 | ALX3,STRIP1 | c.536A>C (p.Asp179Ala) c.107A>C (p.Asp36Ala) n.4214-7810T>G | |
| 1 | g.110064646C>A | CA341584469 | ALX3,STRIP1 | c.535G>T (p.Asp179Tyr) c.106G>T (p.Asp36Tyr) n.4214-7809C>A | |
| 1 | g.110064646C>G | CA341584471 | ALX3,STRIP1 | c.535G>C (p.Asp179His) c.106G>C (p.Asp36His) n.4214-7809C>G | gnomAD v4 |
| 1 | g.110064646C>T | CA341584473 | ALX3,STRIP1 | c.535G>A (p.Asp179Asn) c.106G>A (p.Asp36Asn) n.4214-7809C>T | |
| 1 | g.110064647A>C | CA419686626 | ALX3,STRIP1 | c.534T>G (p.Pro178=) c.105T>G (p.Pro35=) n.4214-7808A>C | |
| 1 | g.110064647A>G | CA419686628 | ALX3,STRIP1 | c.534T>C (p.Pro178=) c.105T>C (p.Pro35=) n.4214-7808A>G | gnomAD v4 |
| 1 | g.110064647A>T | CA419686631 | ALX3,STRIP1 | c.534T>A (p.Pro178=) c.105T>A (p.Pro35=) n.4214-7808A>T | |
| 1 | g.110064648G>A | CA341584477 | ALX3,STRIP1 | c.533C>T (p.Pro178Leu) c.104C>T (p.Pro35Leu) n.4214-7807G>A | |
| 1 | g.110064648G>C | CA341584480 | ALX3,STRIP1 | c.533C>G (p.Pro178Arg) c.104C>G (p.Pro35Arg) n.4214-7807G>C | |
| 1 | g.110064648G>T | CA341584481 | ALX3,STRIP1 | c.533C>A (p.Pro178His) c.104C>A (p.Pro35His) n.4214-7807G>T | |
| 1 | g.110064649G>A | CA341584490 | ALX3,STRIP1 | c.532C>T (p.Pro178Ser) c.103C>T (p.Pro35Ser) n.4214-7806G>A | |
| 1 | g.110064649G>C | CA341584492 | ALX3,STRIP1 | c.532C>G (p.Pro178Ala) c.103C>G (p.Pro35Ala) n.4214-7806G>C | |
| 1 | g.110064649G>T | CA341584486 | ALX3,STRIP1 | c.532C>A (p.Pro178Thr) c.103C>A (p.Pro35Thr) n.4214-7806G>T | |
| 1 | g.110064650A>C | CA341584496 | ALX3,STRIP1 | c.531T>G (p.Tyr177Ter) c.102T>G (p.Tyr34Ter) n.4214-7805A>C | |
| 1 | g.110064650A>G | CA419686632 | ALX3,STRIP1 | c.531T>C (p.Tyr177=) c.102T>C (p.Tyr34=) n.4214-7805A>G | |
| 1 | g.110064650A>T | CA341584499 | ALX3,STRIP1 | c.531T>A (p.Tyr177Ter) c.102T>A (p.Tyr34Ter) n.4214-7805A>T | |
| 1 | g.110064651T>A | CA341584503 | ALX3,STRIP1 | c.530A>T (p.Tyr177Phe) c.101A>T (p.Tyr34Phe) n.4214-7804T>A | |
| 1 | g.110064651T>C | CA341584505 | ALX3,STRIP1 | c.530A>G (p.Tyr177Cys) c.101A>G (p.Tyr34Cys) n.4214-7804T>C | |
| 1 | g.110064651T>G | CA341584508 | ALX3,STRIP1 | c.530A>C (p.Tyr177Ser) c.101A>C (p.Tyr34Ser) n.4214-7804T>G | |
| 1 | g.110064652A= | CA1188354927 | ALX3,STRIP1 | c.529T= (p.Tyr177=) c.100T= (p.Tyr34=) n.4214-7803A= | |
| 1 | g.110064652A>C | CA341584511 | ALX3,STRIP1 | c.529T>G (p.Tyr177Asp) c.100T>G (p.Tyr34Asp) n.4214-7803A>C | |
| 1 | g.110064652A>G | CA341584512 | ALX3,STRIP1 | c.529T>C (p.Tyr177His) c.100T>C (p.Tyr34His) n.4214-7803A>G | dbSNP gnomAD v4 |
| 1 | g.110064652A>T | CA341584515 | ALX3,STRIP1 | c.529T>A (p.Tyr177Asn) c.100T>A (p.Tyr34Asn) n.4214-7803A>T | |
| 1 | g.110064653G>A | CA419686635 | ALX3,STRIP1 | c.528C>T (p.His176=) c.99C>T (p.His33=) n.4214-7802G>A | |
| 1 | g.110064653G>C | CA341584518 | ALX3,STRIP1 | c.528C>G (p.His176Gln) c.99C>G (p.His33Gln) n.4214-7802G>C | gnomAD v4 |
| 1 | g.110064653G>T | CA341584520 | ALX3,STRIP1 | c.528C>A (p.His176Gln) c.99C>A (p.His33Gln) n.4214-7802G>T | |
| 1 | g.110064654T>A | CA997578 | ALX3,STRIP1 | c.527A>T (p.His176Leu) c.98A>T (p.His33Leu) n.4214-7801T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.110064654T>C | CA341584527 | ALX3,STRIP1 | c.527A>G (p.His176Arg) c.98A>G (p.His33Arg) n.4214-7801T>C | |
| 1 | g.110064654T>G | CA341584530 | ALX3,STRIP1 | c.527A>C (p.His176Pro) c.98A>C (p.His33Pro) n.4214-7801T>G | |
| 1 | g.110064654T= | CA1188354928 | ALX3,STRIP1 | c.527A= (p.His176=) c.98A= (p.His33=) n.4214-7801T= | |
| 1 | g.110064655G>A | CA341584540 | ALX3,STRIP1 | c.526C>T (p.His176Tyr) c.97C>T (p.His33Tyr) n.4214-7800G>A | gnomAD v4 |
| 1 | g.110064655G>C | CA341584533 | ALX3,STRIP1 | c.526C>G (p.His176Asp) c.97C>G (p.His33Asp) n.4214-7800G>C | |
| 1 | g.110064655G>T | CA341584536 | ALX3,STRIP1 | c.526C>A (p.His176Asn) c.97C>A (p.His33Asn) n.4214-7800G>T | |
| 1 | g.110064656G>A | CA419686640 | ALX3,STRIP1 | c.525C>T (p.Thr175=) c.96C>T (p.Thr32=) n.4214-7799G>A | |
| 1 | g.110064656G>C | CA419686639 | ALX3,STRIP1 | c.525C>G (p.Thr175=) c.96C>G (p.Thr32=) n.4214-7799G>C | dbSNP |
| 1 | g.110064656G>T | CA419686638 | ALX3,STRIP1 | c.525C>A (p.Thr175=) c.96C>A (p.Thr32=) n.4214-7799G>T | |
| 1 | g.110064657G>A | CA341584544 | ALX3,STRIP1 | c.524C>T (p.Thr175Ile) c.95C>T (p.Thr32Ile) n.4214-7798G>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.110064657G>C | CA341584546 | ALX3,STRIP1 | c.524C>G (p.Thr175Ser) c.95C>G (p.Thr32Ser) n.4214-7798G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.110064657G= | CA1188354929 | ALX3,STRIP1 | c.524C= (p.Thr175=) c.95C= (p.Thr32=) n.4214-7798G= | |
| 1 | g.110064657G>T | CA341584550 | ALX3,STRIP1 | c.524C>A (p.Thr175Asn) c.95C>A (p.Thr32Asn) n.4214-7798G>T | |
| 1 | g.110064658T>A | CA341584553 | ALX3,STRIP1 | c.523A>T (p.Thr175Ser) c.94A>T (p.Thr32Ser) n.4214-7797T>A | |
| 1 | g.110064658T>C | CA341584556 | ALX3,STRIP1 | c.523A>G (p.Thr175Ala) c.94A>G (p.Thr32Ala) n.4214-7797T>C | |
| 1 | g.110064658T>G | CA341584558 | ALX3,STRIP1 | c.523A>C (p.Thr175Pro) c.94A>C (p.Thr32Pro) n.4214-7797T>G | |
| 1 | g.110064660_110064673del | CA2647013944 | ALX3,STRIP1 | c.510_523del (p.Lys170AsnfsTer5) c.81_94del (p.Lys27AsnfsTer5) n.4214-7795_4214-7782del | gnomAD v4 |
| 1 | g.110064659T>A | CA341584563 | ALX3,STRIP1 | c.522A>T (p.Lys174Asn) c.93A>T (p.Lys31Asn) n.4214-7796T>A | |
| 1 | g.110064659T>C | CA419686648 | ALX3,STRIP1 | c.522A>G (p.Lys174=) c.93A>G (p.Lys31=) n.4214-7796T>C | |
| 1 | g.110064659T>G | CA341584566 | ALX3,STRIP1 | c.522A>C (p.Lys174Asn) c.93A>C (p.Lys31Asn) n.4214-7796T>G | |
| 1 | g.110064660T>A | CA341584570 | ALX3,STRIP1 | c.521A>T (p.Lys174Ile) c.92A>T (p.Lys31Ile) n.4214-7795T>A | |
| 1 | g.110064660T>C | CA341584572 | ALX3,STRIP1 | c.521A>G (p.Lys174Arg) c.92A>G (p.Lys31Arg) n.4214-7795T>C | |
| 1 | g.110064660T>G | CA341584574 | ALX3,STRIP1 | c.521A>C (p.Lys174Thr) c.92A>C (p.Lys31Thr) n.4214-7795T>G | |
| 1 | g.110064661_110064675del | CA2745014333 | ALX3,STRIP1 | c.507_521del (p.Lys170_Lys174del) c.78_92del (p.Lys27_Lys31del) n.4214-7794_4214-7780del | |
| 1 | g.110064661T>A | CA341584580 | ALX3,STRIP1 | c.520A>T (p.Lys174Ter) c.91A>T (p.Lys31Ter) n.4214-7794T>A | |
| 1 | g.110064661T>C | CA997579 | ALX3,STRIP1 | c.520A>G (p.Lys174Glu) c.91A>G (p.Lys31Glu) n.4214-7794T>C | dbSNP ExAC gnomAD v2 |
| 1 | g.110064661T>G | CA341584582 | ALX3,STRIP1 | c.520A>C (p.Lys174Gln) c.91A>C (p.Lys31Gln) n.4214-7794T>G | |
| 1 | g.110064661T= | CA1188354930 | ALX3,STRIP1 | c.520A= (p.Lys174=) c.91A= (p.Lys31=) n.4214-7794T= | |
| 1 | g.110064662C>A | CA341584587 | ALX3,STRIP1 | c.519G>T (p.Gln173His) c.90G>T (p.Gln30His) n.4214-7793C>A | |
| 1 | g.110064662C>G | CA341584590 | ALX3,STRIP1 | c.519G>C (p.Gln173His) c.90G>C (p.Gln30His) n.4214-7793C>G | |
| 1 | g.110064662C>T | CA419686661 | ALX3,STRIP1 | c.519G>A (p.Gln173=) c.90G>A (p.Gln30=) n.4214-7793C>T | |
| 1 | g.110064663T>A | CA341584595 | ALX3,STRIP1 | c.518A>T (p.Gln173Leu) c.89A>T (p.Gln30Leu) n.4214-7792T>A | |
| 1 | g.110064663T>C | CA341584598 | ALX3,STRIP1 | c.518A>G (p.Gln173Arg) c.89A>G (p.Gln30Arg) n.4214-7792T>C | |
| 1 | g.110064663T>G | CA341584599 | ALX3,STRIP1 | c.518A>C (p.Gln173Pro) c.89A>C (p.Gln30Pro) n.4214-7792T>G | |
| 1 | g.110064664G>A | CA341584602 | ALX3,STRIP1 | c.517C>T (p.Gln173Ter) c.88C>T (p.Gln30Ter) n.4214-7791G>A | gnomAD v4 |
| 1 | g.110064664G>C | CA341584603 | ALX3,STRIP1 | c.517C>G (p.Gln173Glu) c.88C>G (p.Gln30Glu) n.4214-7791G>C | dbSNP |
| 1 | g.110064664G= | CA1188354931 | ALX3,STRIP1 | c.517C= (p.Gln173=) c.88C= (p.Gln30=) n.4214-7791G= | |
| 1 | g.110064664G>T | CA341584606 | ALX3,STRIP1 | c.517C>A (p.Gln173Lys) c.88C>A (p.Gln30Lys) n.4214-7791G>T | |
| 1 | g.110064665G>A | CA419686668 | ALX3,STRIP1 | c.516C>T (p.Phe172=) c.87C>T (p.Phe29=) n.4214-7790G>A | gnomAD v4 |
| 1 | g.110064665G>C | CA341584610 | ALX3,STRIP1 | c.516C>G (p.Phe172Leu) c.87C>G (p.Phe29Leu) n.4214-7790G>C | |
| 1 | g.110064665G>T | CA341584613 | ALX3,STRIP1 | c.516C>A (p.Phe172Leu) c.87C>A (p.Phe29Leu) n.4214-7790G>T | |
| 1 | g.110064666A>C | CA341584618 | ALX3,STRIP1 | c.515T>G (p.Phe172Cys) c.86T>G (p.Phe29Cys) n.4214-7789A>C | |
| 1 | g.110064666A>G | CA341584621 | ALX3,STRIP1 | c.515T>C (p.Phe172Ser) c.86T>C (p.Phe29Ser) n.4214-7789A>G | |
| 1 | g.110064666A>T | CA341584624 | ALX3,STRIP1 | c.515T>A (p.Phe172Tyr) c.86T>A (p.Phe29Tyr) n.4214-7789A>T | |
| 1 | g.110064667A>C | CA341584630 | ALX3,STRIP1 | c.514T>G (p.Phe172Val) c.85T>G (p.Phe29Val) n.4214-7788A>C | |
| 1 | g.110064667A>G | CA341584627 | ALX3,STRIP1 | c.514T>C (p.Phe172Leu) c.85T>C (p.Phe29Leu) n.4214-7788A>G | |
| 1 | g.110064667A>T | CA341584628 | ALX3,STRIP1 | c.514T>A (p.Phe172Ile) c.85T>A (p.Phe29Ile) n.4214-7788A>T | |
| 1 | g.110064668G>A | CA419686676 | ALX3,STRIP1 | c.513C>T (p.Val171=) c.84C>T (p.Val28=) n.4214-7787G>A | gnomAD v4 |
| 1 | g.110064668G>C | CA419686678 | ALX3,STRIP1 | c.513C>G (p.Val171=) c.84C>G (p.Val28=) n.4214-7787G>C | |
| 1 | g.110064668G>T | CA419686679 | ALX3,STRIP1 | c.513C>A (p.Val171=) c.84C>A (p.Val28=) n.4214-7787G>T | |
| 1 | g.110064669A>C | CA341584633 | ALX3,STRIP1 | c.512T>G (p.Val171Gly) c.83T>G (p.Val28Gly) n.4214-7786A>C | |
| 1 | g.110064669A>G | CA341584636 | ALX3,STRIP1 | c.512T>C (p.Val171Ala) c.83T>C (p.Val28Ala) n.4214-7786A>G | |
| 1 | g.110064669A>T | CA341584639 | ALX3,STRIP1 | c.512T>A (p.Val171Asp) c.83T>A (p.Val28Asp) n.4214-7786A>T | |
| 1 | g.110064670C>A | CA341584642 | ALX3,STRIP1 | c.511G>T (p.Val171Phe) c.82G>T (p.Val28Phe) n.4214-7785C>A | |
| 1 | g.110064670C>G | CA341584650 | ALX3,STRIP1 | c.511G>C (p.Val171Leu) c.82G>C (p.Val28Leu) n.4214-7785C>G | |
| 1 | g.110064670C>T | CA341584653 | ALX3,STRIP1 | c.511G>A (p.Val171Ile) c.82G>A (p.Val28Ile) n.4214-7785C>T | |
| 1 | g.110064671C>A | CA28739525 | ALX3,STRIP1 | c.510G>T (p.Lys170Asn) c.81G>T (p.Lys27Asn) n.4214-7784C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110064671C= | CA1188354932 | ALX3,STRIP1 | c.510G= (p.Lys170=) c.81G= (p.Lys27=) n.4214-7784C= | |
| 1 | g.110064671C>G | CA997580 | ALX3,STRIP1 | c.510G>C (p.Lys170Asn) c.81G>C (p.Lys27Asn) n.4214-7784C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110064671C>T | CA419686686 | ALX3,STRIP1 | c.510G>A (p.Lys170=) c.81G>A (p.Lys27=) n.4214-7784C>T | |
| 1 | g.110064673_110064675del | CA2573884609 | ALX3,STRIP1 | c.508_510del (p.Lys170del) c.79_81del (p.Lys27del) n.4214-7782_4214-7780del | gnomAD v4 |
| 1 | g.110064672T>A | CA341584662 | ALX3,STRIP1 | c.509A>T (p.Lys170Met) c.80A>T (p.Lys27Met) n.4214-7783T>A | gnomAD v4 |
| 1 | g.110064672T>C | CA341584666 | ALX3,STRIP1 | c.509A>G (p.Lys170Arg) c.80A>G (p.Lys27Arg) n.4214-7783T>C | |
| 1 | g.110064672T>G | CA341584669 | ALX3,STRIP1 | c.509A>C (p.Lys170Thr) c.80A>C (p.Lys27Thr) n.4214-7783T>G | |
| 1 | g.110064673T>A | CA341584677 | ALX3,STRIP1 | c.508A>T (p.Lys170Ter) c.79A>T (p.Lys27Ter) n.4214-7782T>A | |
| 1 | g.110064673T>C | CA341584680 | ALX3,STRIP1 | c.508A>G (p.Lys170Glu) c.79A>G (p.Lys27Glu) n.4214-7782T>C | gnomAD v4 |
| 1 | g.110064673T>G | CA341584673 | ALX3,STRIP1 | c.508A>C (p.Lys170Gln) c.79A>C (p.Lys27Gln) n.4214-7782T>G | |
| 1 | g.110064673T= | CA1188354933 | ALX3,STRIP1 | c.508A= (p.Lys170=) c.79A= (p.Lys27=) n.4214-7782T= | |
| 1 | g.110064674C>A | CA341584684 | ALX3,STRIP1 | c.507G>T (p.Glu169Asp) c.78G>T (p.Glu26Asp) n.4214-7781C>A | |
| 1 | g.110064674C= | CA1143531376 | ALX3,STRIP1 | c.507G= (p.Glu169=) c.78G= (p.Glu26=) n.4214-7781C= | |
| 1 | g.110064674C>G | CA341584687 | ALX3,STRIP1 | c.507G>C (p.Glu169Asp) c.78G>C (p.Glu26Asp) n.4214-7781C>G | |
| 1 | g.110064674C>T | CA997582 | ALX3,STRIP1 | c.507G>A (p.Glu169=) c.78G>A (p.Glu26=) n.4214-7781C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110064682_110064690dup | CA997581 | ALX3,STRIP1 | c.499_507dup (p.Glu169_Lys170insGluLeuGlu) c.70_78dup (p.Glu26_Lys27insGluLeuGlu) n.4214-7773_4214-7765dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.110064675T>A | CA341584691 | ALX3,STRIP1 | c.506A>T (p.Glu169Val) c.77A>T (p.Glu26Val) n.4214-7780T>A | |
| 1 | g.110064675T>C | CA341584692 | ALX3,STRIP1 | c.506A>G (p.Glu169Gly) c.77A>G (p.Glu26Gly) n.4214-7780T>C | |
| 1 | g.110064675T>G | CA341584695 | ALX3,STRIP1 | c.506A>C (p.Glu169Ala) c.77A>C (p.Glu26Ala) n.4214-7780T>G | |
| 1 | g.110064676C>A | CA341584699 | ALX3,STRIP1 | c.505G>T (p.Glu169Ter) c.76G>T (p.Glu26Ter) n.4214-7779C>A | |
| 1 | g.110064676C= | CA1188354934 | ALX3,STRIP1 | c.505G= (p.Glu169=) c.76G= (p.Glu26=) n.4214-7779C= | |
| 1 | g.110064676C>G | CA341584702 | ALX3,STRIP1 | c.505G>C (p.Glu169Gln) c.76G>C (p.Glu26Gln) n.4214-7779C>G | dbSNP |
| 1 | g.110064676C>T | CA341584705 | ALX3,STRIP1 | c.505G>A (p.Glu169Lys) c.76G>A (p.Glu26Lys) n.4214-7779C>T | gnomAD v4 |
| 1 | g.110064677C>A | CA419686703 | ALX3,STRIP1 | c.504G>T (p.Leu168=) c.75G>T (p.Leu25=) n.4214-7778C>A | |
| 1 | g.110064677C= | CA1188354935 | ALX3,STRIP1 | c.504G= (p.Leu168=) c.75G= (p.Leu25=) n.4214-7778C= | |
| 1 | g.110064677C>G | CA419686704 | ALX3,STRIP1 | c.504G>C (p.Leu168=) c.75G>C (p.Leu25=) n.4214-7778C>G | dbSNP |
| 1 | g.110064677C>T | CA419686707 | ALX3,STRIP1 | c.504G>A (p.Leu168=) c.75G>A (p.Leu25=) n.4214-7778C>T | |
| 1 | g.110064678A>C | CA341584709 | ALX3,STRIP1 | c.503T>G (p.Leu168Arg) c.74T>G (p.Leu25Arg) n.4214-7777A>C | |
| 1 | g.110064678A>G | CA341584712 | ALX3,STRIP1 | c.503T>C (p.Leu168Pro) c.74T>C (p.Leu25Pro) n.4214-7777A>G | |
| 1 | g.110064678A>T | CA341584715 | ALX3,STRIP1 | c.503T>A (p.Leu168Gln) c.74T>A (p.Leu25Gln) n.4214-7777A>T | COSMIC |
| 1 | g.110064679G>A | CA419686712 | ALX3,STRIP1 | c.502C>T (p.Leu168=) c.73C>T (p.Leu25=) n.4214-7776G>A | |
| 1 | g.110064679G>C | CA116981 | ALX3,STRIP1 | c.502C>G (p.Leu168Val) c.73C>G (p.Leu25Val) n.4214-7776G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.110064679G= | CA1141580974 | ALX3,STRIP1 | c.502C= (p.Leu168=) c.73C= (p.Leu25=) n.4214-7776G= | |
| 1 | g.110064679G>T | CA341584719 | ALX3,STRIP1 | c.502C>A (p.Leu168Met) c.73C>A (p.Leu25Met) n.4214-7776G>T | |
| 1 | g.110064680C>A | CA341584724 | ALX3,STRIP1 | c.501G>T (p.Glu167Asp) c.72G>T (p.Glu24Asp) n.4214-7775C>A | |
| 1 | g.110064680C= | CA1188354936 | ALX3,STRIP1 | c.501G= (p.Glu167=) c.72G= (p.Glu24=) n.4214-7775C= | |
| 1 | g.110064680C>G | CA341584730 | ALX3,STRIP1 | c.501G>C (p.Glu167Asp) c.72G>C (p.Glu24Asp) n.4214-7775C>G | |
| 1 | g.110064680C>T | CA28739566 | ALX3,STRIP1 | c.501G>A (p.Glu167=) c.72G>A (p.Glu24=) n.4214-7775C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.110064681T>A | CA341584735 | ALX3,STRIP1 | c.500A>T (p.Glu167Val) c.71A>T (p.Glu24Val) n.4214-7774T>A | |
| 1 | g.110064681T>C | CA341584738 | ALX3,STRIP1 | c.500A>G (p.Glu167Gly) c.71A>G (p.Glu24Gly) n.4214-7774T>C | |
| 1 | g.110064681T>G | CA341584740 | ALX3,STRIP1 | c.500A>C (p.Glu167Ala) c.71A>C (p.Glu24Ala) n.4214-7774T>G | |
| 1 | g.110064682C>A | CA341584744 | ALX3,STRIP1 | c.499G>T (p.Glu167Ter) c.70G>T (p.Glu24Ter) n.4214-7773C>A | |
| 1 | g.110064682C= | CA1188354937 | ALX3,STRIP1 | c.499G= (p.Glu167=) c.70G= (p.Glu24=) n.4214-7773C= | |
| 1 | g.110064682C>G | CA341584746 | ALX3,STRIP1 | c.499G>C (p.Glu167Gln) c.70G>C (p.Glu24Gln) n.4214-7773C>G | |
| 1 | g.110064682C>T | CA341584749 | ALX3,STRIP1 | c.499G>A (p.Glu167Lys) c.70G>A (p.Glu24Lys) n.4214-7773C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.110064683C>A | CA341584753 | ALX3,STRIP1 | c.498G>T (p.Glu166Asp) c.69G>T (p.Glu23Asp) n.4214-7772C>A | |
| 1 | g.110064683C= | CA1188354938 | ALX3,STRIP1 | c.498G= (p.Glu166=) c.69G= (p.Glu23=) n.4214-7772C= | |
| 1 | g.110064683C>G | CA341584756 | ALX3,STRIP1 | c.498G>C (p.Glu166Asp) c.69G>C (p.Glu23Asp) n.4214-7772C>G | |
| 1 | g.110064683C>T | CA419686723 | ALX3,STRIP1 | c.498G>A (p.Glu166=) c.69G>A (p.Glu23=) n.4214-7772C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.110064684T>A | CA341584764 | ALX3,STRIP1 | c.497A>T (p.Glu166Val) c.68A>T (p.Glu23Val) n.4214-7771T>A | |
| 1 | g.110064684T>C | CA341584767 | ALX3,STRIP1 | c.497A>G (p.Glu166Gly) c.68A>G (p.Glu23Gly) n.4214-7771T>C | |
| 1 | g.110064684T>G | CA341584769 | ALX3,STRIP1 | c.497A>C (p.Glu166Ala) c.68A>C (p.Glu23Ala) n.4214-7771T>G | |
| 1 | g.110064685C>A | CA341584775 | ALX3,STRIP1 | c.496G>T (p.Glu166Ter) c.67G>T (p.Glu23Ter) n.4214-7770C>A | |
| 1 | g.110064685C= | CA1188354939 | ALX3,STRIP1 | c.496G= (p.Glu166=) c.67G= (p.Glu23=) n.4214-7770C= | |
| 1 | g.110064685C>G | CA341584773 | ALX3,STRIP1 | c.496G>C (p.Glu166Gln) c.67G>C (p.Glu23Gln) n.4214-7770C>G | |
| 1 | g.110064685C>T | CA28739567 | ALX3,STRIP1 | c.496G>A (p.Glu166Lys) c.67G>A (p.Glu23Lys) n.4214-7770C>T | dbSNP gnomAD v4 |
| 1 | g.110064686C>A | CA419686729 | ALX3,STRIP1 | c.495G>T (p.Leu165=) c.66G>T (p.Leu22=) n.4214-7769C>A | |
| 1 | g.110064686C= | CA1188354940 | ALX3,STRIP1 | c.495G= (p.Leu165=) c.66G= (p.Leu22=) n.4214-7769C= | |
| 1 | g.110064686C>G | CA419686732 | ALX3,STRIP1 | c.495G>C (p.Leu165=) c.66G>C (p.Leu22=) n.4214-7769C>G | gnomAD v4 |
| 1 | g.110064686C>T | CA28739568 | ALX3,STRIP1 | c.495G>A (p.Leu165=) c.66G>A (p.Leu22=) n.4214-7769C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.110064687A>C | CA341584779 | ALX3,STRIP1 | c.494T>G (p.Leu165Arg) c.65T>G (p.Leu22Arg) n.4214-7768A>C | |
| 1 | g.110064687A>G | CA341584784 | ALX3,STRIP1 | c.494T>C (p.Leu165Pro) c.65T>C (p.Leu22Pro) n.4214-7768A>G | |
| 1 | g.110064687A>T | CA341584782 | ALX3,STRIP1 | c.494T>A (p.Leu165Gln) c.65T>A (p.Leu22Gln) n.4214-7768A>T | |
| 1 | g.110064688G>A | CA419686738 | ALX3,STRIP1 | c.493C>T (p.Leu165=) c.64C>T (p.Leu22=) n.4214-7767G>A | |
| 1 | g.110064688G>C | CA341584787 | ALX3,STRIP1 | c.493C>G (p.Leu165Val) c.64C>G (p.Leu22Val) n.4214-7767G>C | |
| 1 | g.110064688G>T | CA341584789 | ALX3,STRIP1 | c.493C>A (p.Leu165Met) c.64C>A (p.Leu22Met) n.4214-7767G>T | |
| 1 | g.110064689C>A | CA341584792 | ALX3,STRIP1 | c.492G>T (p.Gln164His) c.63G>T (p.Gln21His) n.4214-7766C>A | |
| 1 | g.110064689C>G | CA341584795 | ALX3,STRIP1 | c.492G>C (p.Gln164His) c.63G>C (p.Gln21His) n.4214-7766C>G | |
| 1 | g.110064689C>T | CA419686743 | ALX3,STRIP1 | c.492G>A (p.Gln164=) c.63G>A (p.Gln21=) n.4214-7766C>T |