22 | g.49913590C>T | CA2577757001 | ALG12 | c.162+14G>A (n.162+14G>A)
| |
22 | g.49913591A= | CA2410564824 | ALG12 | c.162+13T= (n.162+13T=)
| |
22 | g.49913591A>C | CA2410564825 | ALG12 | c.162+13T>G (n.162+13T>G)
| dbSNP |
22 | g.49913591_49913592delinsAG | CA2410564823 | ALG12 | c.162+12_162+13delinsCT (n.162+12_162+13delinsCT)
| |
22 | g.49913592G>A | CA1026586192 | ALG12 | c.162+12C>T (n.162+12C>T)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913592G= | CA2410564826 | ALG12 | c.162+12C= (n.162+12C=)
| |
22 | g.49913595dup | CA10300725 | ALG12 | c.162+12dup (n.162+12dup)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913595del | CA1026586186 | ALG12 | c.162+12del (n.162+12del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913593G>A | CA1026586195 | ALG12 | c.162+11C>T (n.162+11C>T)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913593G= | CA2410564827 | ALG12 | c.162+11C= (n.162+11C=)
| |
22 | g.49913593G>T | CA2657454310 | ALG12 | c.162+11C>A (n.162+11C>A)
| gnomAD v4 |
22 | g.49913594G>A | CA754007776 | ALG12 | c.162+10C>T (n.162+10C>T)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913594G>C | CA2657454314 | ALG12 | c.162+10C>G (n.162+10C>G)
| dbSNP gnomAD v4 |
22 | g.49913594G= | CA2410564828 | ALG12 | c.162+10C= (n.162+10C=)
| |
22 | g.49913594G>T | CA2739265709 | ALG12 | c.162+10C>A (n.162+10C>A)
| ClinVar |
22 | g.49913594_49913595insAAAGACA | CA640352379 | ALG12 | c.162+9_162+10insTGTCTTT (n.162+9_162+10insTGTCTTT)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913596C>A | CA2657454324 | ALG12 | c.162+8G>T (n.162+8G>T)
| gnomAD v4 |
22 | g.49913596C= | CA2410564829 | ALG12 | c.162+8G= (n.162+8G=)
| |
22 | g.49913596C>T | CA2657454328 | ALG12 | c.162+8G>A (n.162+8G>A)
| gnomAD v4 |
22 | g.49913596_49913597insAAGGTTTT | CA640352380 | ALG12 | c.162+7_162+8insAAAACCTT (n.162+7_162+8insAAAACCTT)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913597C>A | CA640352381 | ALG12 | c.162+7G>T (n.162+7G>T)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913597C= | CA2410564830 | ALG12 | c.162+7G= (n.162+7G=)
| |
22 | g.49913597C>T | CA2657454339 | ALG12 | c.162+7G>A (n.162+7G>A)
| gnomAD v4 |
22 | g.49913598C>A | CA754007790 | ALG12 | c.162+6G>T (n.162+6G>T)
| dbSNP |
22 | g.49913598C= | CA2410564831 | ALG12 | c.162+6G= (n.162+6G=)
| |
22 | g.49913599C>A | CA2577757002 | ALG12 | c.162+5G>T (n.162+5G>T)
| |
22 | g.49913599C= | CA2410564832 | ALG12 | c.162+5G= (n.162+5G=)
| |
22 | g.49913599C>G | CA10300726 | ALG12 | c.162+5G>C (n.162+5G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913599_49913600delinsCT | CA2410564833 | ALG12 | c.162+4_162+5delinsAG (n.162+4_162+5delinsAG)
| |
22 | g.49913600del | CA640352382 | ALG12 | c.162+4del (n.162+4del)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913600T>C | CA640352383 | ALG12 | c.162+4A>G (n.162+4A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913600T= | CA2410564834 | ALG12 | c.162+4A= (n.162+4A=)
| |
22 | g.49913601C>A | CA2657454358 | ALG12 | c.162+3G>T (n.162+3G>T)
| gnomAD v4 |
22 | g.49913601C= | CA2410564835 | ALG12 | c.162+3G= (n.162+3G=)
| |
22 | g.49913601C>T | CA640352384 | ALG12 | c.162+3G>A (n.162+3G>A)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913602A= | CA2410564836 | ALG12 | c.162+2T= (n.162+2T=)
| |
22 | g.49913602A>C | CA412080534 | ALG12 | c.162+2T>G (n.162+2T>G)
| gnomAD v4 |
22 | g.49913602A>G | CA412080536 | ALG12 | c.162+2T>C (n.162+2T>C)
| dbSNP |
22 | g.49913602A>T | CA412080538 | ALG12 | c.162+2T>A (n.162+2T>A)
| |
22 | g.49913602_49913603insAAG | CA640352385 | ALG12 | c.162+1_162+2insCTT (n.162+1_162+2insCTT)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913603C>A | CA16043186 | ALG12 | c.162+1G>T (n.162+1G>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913603C= | CA2410564837 | ALG12 | c.162+1G= (n.162+1G=)
| |
22 | g.49913603C>G | CA412080547 | ALG12 | c.162+1G>C (n.162+1G>C)
| |
22 | g.49913603C>T | CA412080541 | ALG12 | c.162+1G>A (n.162+1G>A)
| |
22 | g.49913604C>A | CA412080552 | ALG12 | c.162G>T (p.Gln54His)
| |
22 | g.49913604C>G | CA412080556 | ALG12 | c.162G>C (p.Gln54His)
| |
22 | g.49913604C>T | CA515106813 | ALG12 | c.162G>A (p.Gln54=)
| |
22 | g.49913605T>A | CA412080561 | ALG12 | c.161A>T (p.Gln54Leu)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913605T>C | CA412080562 | ALG12 | c.161A>G (p.Gln54Arg)
| |
22 | g.49913605T>G | CA412080563 | ALG12 | c.161A>C (p.Gln54Pro)
| gnomAD v4 |
22 | g.49913605T= | CA2410564838 | ALG12 | c.161A= (p.Gln54=)
| |
22 | g.49913606G>A | CA412080572 | ALG12 | c.160C>T (p.Gln54Ter)
| ClinVar |
22 | g.49913606G>C | CA412080564 | ALG12 | c.160C>G (p.Gln54Glu)
| |
22 | g.49913606G= | CA2410564839 | ALG12 | c.160C= (p.Gln54=)
| |
22 | g.49913606G>T | CA412080566 | ALG12 | c.160C>A (p.Gln54Lys)
| |
22 | g.49913607C>A | CA412080577 | ALG12 | c.159G>T (p.Glu53Asp)
| COSMIC |
22 | g.49913607C>G | CA412080578 | ALG12 | c.159G>C (p.Glu53Asp)
| |
22 | g.49913607C>T | CA515106823 | ALG12 | c.159G>A (p.Glu53=)
| |
22 | g.49913607_49913608insAAGAC | CA640352386 | ALG12 | c.159_160insTCTTG (p.Gln54SerfsTer22)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913608T>A | CA412080579 | ALG12 | c.158A>T (p.Glu53Val)
| |
22 | g.49913608T>C | CA412080580 | ALG12 | c.158A>G (p.Glu53Gly)
| |
22 | g.49913608T>G | CA412080584 | ALG12 | c.158A>C (p.Glu53Ala)
| |
22 | g.49913609C>A | CA412080587 | ALG12 | c.157G>T (p.Glu53Ter)
| |
22 | g.49913609C= | CA2410564840 | ALG12 | c.157G= (p.Glu53=)
| |
22 | g.49913609C>G | CA325433523 | ALG12 | c.157G>C (p.Glu53Gln)
| dbSNP gnomAD v4 |
22 | g.49913609C>T | CA412080588 | ALG12 | c.157G>A (p.Glu53Lys)
| gnomAD v4 |
22 | g.49913610C>A | CA515106830 | ALG12 | c.156G>T (p.Leu52=)
| |
22 | g.49913610C>G | CA515106829 | ALG12 | c.156G>C (p.Leu52=)
| |
22 | g.49913610C>T | CA515106828 | ALG12 | c.156G>A (p.Leu52=)
| gnomAD v4 |
22 | g.49913611A>C | CA412080598 | ALG12 | c.155T>G (p.Leu52Arg)
| |
22 | g.49913611A>G | CA412080605 | ALG12 | c.155T>C (p.Leu52Pro)
| |
22 | g.49913611A>T | CA412080600 | ALG12 | c.155T>A (p.Leu52Gln)
| |
22 | g.49913612G>A | CA515106835 | ALG12 | c.154C>T (p.Leu52=)
| |
22 | g.49913612G>C | CA412080612 | ALG12 | c.154C>G (p.Leu52Val)
| gnomAD v4 |
22 | g.49913612G>T | CA412080616 | ALG12 | c.154C>A (p.Leu52Met)
| |
22 | g.49913613G>A | CA515106836 | ALG12 | c.153C>T (p.Asp51=)
| |
22 | g.49913613G>C | CA412080622 | ALG12 | c.153C>G (p.Asp51Glu)
| |
22 | g.49913613G>T | CA412080632 | ALG12 | c.153C>A (p.Asp51Glu)
| |
22 | g.49913613_49913614insGCCC | CA2657454418 | ALG12 | c.152_153insGGGC (p.Asp51GlufsTer10)
| gnomAD v4 |
22 | g.49913614T>A | CA412080638 | ALG12 | c.152A>T (p.Asp51Val)
| |
22 | g.49913614T>C | CA412080653 | ALG12 | c.152A>G (p.Asp51Gly)
| |
22 | g.49913614T>G | CA412080655 | ALG12 | c.152A>C (p.Asp51Ala)
| |
22 | g.49913615C>A | CA412080657 | ALG12 | c.151G>T (p.Asp51Tyr)
| |
22 | g.49913615C= | CA2410564841 | ALG12 | c.151G= (p.Asp51=)
| |
22 | g.49913615C>G | CA412080659 | ALG12 | c.151G>C (p.Asp51His)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913615C>T | CA412080663 | ALG12 | c.151G>A (p.Asp51Asn)
| |
22 | g.49913616T>A | CA412080666 | ALG12 | c.150A>T (p.Gln50His)
| |
22 | g.49913616T>C | CA515106841 | ALG12 | c.150A>G (p.Gln50=)
| dbSNP gnomAD v4 |
22 | g.49913616T>G | CA412080667 | ALG12 | c.150A>C (p.Gln50His)
| |
22 | g.49913616T= | CA2410564842 | ALG12 | c.150A= (p.Gln50=)
| |
22 | g.49913617del | CA2657454443 | ALG12 | c.150del (p.Asp51ThrfsTer23)
| gnomAD v4 |
22 | g.49913617T>A | CA412080670 | ALG12 | c.149A>T (p.Gln50Leu)
| |
22 | g.49913617T>C | CA412080674 | ALG12 | c.149A>G (p.Gln50Arg)
| |
22 | g.49913617T>G | CA412080672 | ALG12 | c.149A>C (p.Gln50Pro)
| |
22 | g.49913618G>A | CA412080677 | ALG12 | c.148C>T (p.Gln50Ter)
| gnomAD v4 |
22 | g.49913618G>C | CA412080681 | ALG12 | c.148C>G (p.Gln50Glu)
| gnomAD v4 |
22 | g.49913618G= | CA2410564843 | ALG12 | c.148C= (p.Gln50=)
| |
22 | g.49913618G>T | CA10300727 | ALG12 | c.148C>A (p.Gln50Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913619C>A | CA412080689 | ALG12 | c.147G>T (p.Trp49Cys)
| |
22 | g.49913619C= | CA2410564844 | ALG12 | c.147G= (p.Trp49=)
| |
22 | g.49913619C>G | CA412080700 | ALG12 | c.147G>C (p.Trp49Cys)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913619C>T | CA412080710 | ALG12 | c.147G>A (p.Trp49Ter)
| gnomAD v4 |
22 | g.49913620C>A | CA412080724 | ALG12 | c.146G>T (p.Trp49Leu)
| |
22 | g.49913620C= | CA2410564845 | ALG12 | c.146G= (p.Trp49=)
| |
22 | g.49913620C>G | CA412080725 | ALG12 | c.146G>C (p.Trp49Ser)
| dbSNP |
22 | g.49913620C>T | CA412080726 | ALG12 | c.146G>A (p.Trp49Ter)
| |
22 | g.49913621A>C | CA412080734 | ALG12 | c.145T>G (p.Trp49Gly)
| |
22 | g.49913621A>G | CA412080738 | ALG12 | c.145T>C (p.Trp49Arg)
| |
22 | g.49913621A>T | CA412080731 | ALG12 | c.145T>A (p.Trp49Arg)
| |
22 | g.49913622G>A | CA515106853 | ALG12 | c.144C>T (p.His48=)
| |
22 | g.49913622G>C | CA412080742 | ALG12 | c.144C>G (p.His48Gln)
| |
22 | g.49913622G>T | CA412080744 | ALG12 | c.144C>A (p.His48Gln)
| |
22 | g.49913623T>A | CA412080749 | ALG12 | c.143A>T (p.His48Leu)
| |
22 | g.49913623T>C | CA412080751 | ALG12 | c.143A>G (p.His48Arg)
| |
22 | g.49913623T>G | CA412080756 | ALG12 | c.143A>C (p.His48Pro)
| |
22 | g.49913624G>A | CA412080764 | ALG12 | c.142C>T (p.His48Tyr)
| dbSNP |
22 | g.49913624G>C | CA412080762 | ALG12 | c.142C>G (p.His48Asp)
| |
22 | g.49913624G= | CA2410564846 | ALG12 | c.142C= (p.His48=)
| |
22 | g.49913624G>T | CA412080758 | ALG12 | c.142C>A (p.His48Asn)
| gnomAD v4 |
22 | g.49913625G>A | CA10300728 | ALG12 | c.141C>T (p.Tyr47=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913625G>C | CA412080768 | ALG12 | c.141C>G (p.Tyr47Ter)
| |
22 | g.49913625G= | CA2410564847 | ALG12 | c.141C= (p.Tyr47=)
| |
22 | g.49913625G>T | CA412080772 | ALG12 | c.141C>A (p.Tyr47Ter)
| |
22 | g.49913626T>A | CA412080776 | ALG12 | c.140A>T (p.Tyr47Phe)
| |
22 | g.49913626T>C | CA10300729 | ALG12 | c.140A>G (p.Tyr47Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913626T>G | CA412080791 | ALG12 | c.140A>C (p.Tyr47Ser)
| |
22 | g.49913626T= | CA2410564848 | ALG12 | c.140A= (p.Tyr47=)
| |
22 | g.49913627A= | CA2410564849 | ALG12 | c.139T= (p.Tyr47=)
| |
22 | g.49913627A>C | CA412080808 | ALG12 | c.139T>G (p.Tyr47Asp)
| |
22 | g.49913627A>G | CA412080819 | ALG12 | c.139T>C (p.Tyr47His)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913627A>T | CA412080816 | ALG12 | c.139T>A (p.Tyr47Asn)
| |
22 | g.49913628G>A | CA515106860 | ALG12 | c.138C>T (p.Leu46=)
| dbSNP gnomAD v4 |
22 | g.49913628G>C | CA515106861 | ALG12 | c.138C>G (p.Leu46=)
| gnomAD v4 |
22 | g.49913628G= | CA2410564850 | ALG12 | c.138C= (p.Leu46=)
| |
22 | g.49913628G>T | CA515106862 | ALG12 | c.138C>A (p.Leu46=)
| |
22 | g.49913629A>C | CA412080835 | ALG12 | c.137T>G (p.Leu46Arg)
| |
22 | g.49913629A>G | CA412080837 | ALG12 | c.137T>C (p.Leu46Pro)
| gnomAD v4 |
22 | g.49913629A>T | CA412080838 | ALG12 | c.137T>A (p.Leu46His)
| |
22 | g.49913630G>A | CA412080842 | ALG12 | c.136C>T (p.Leu46Phe)
| |
22 | g.49913630G>C | CA412080846 | ALG12 | c.136C>G (p.Leu46Val)
| |
22 | g.49913630G>T | CA412080850 | ALG12 | c.136C>A (p.Leu46Ile)
| |
22 | g.49913631C>A | CA515106869 | ALG12 | c.135G>T (p.Leu45=)
| |
22 | g.49913631C= | CA2410564851 | ALG12 | c.135G= (p.Leu45=)
| |
22 | g.49913631C>G | CA515106868 | ALG12 | c.135G>C (p.Leu45=)
| |
22 | g.49913631C>T | CA515106866 | ALG12 | c.135G>A (p.Leu45=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913632A>C | CA412080853 | ALG12 | c.134T>G (p.Leu45Arg)
| |
22 | g.49913632A>G | CA412080859 | ALG12 | c.134T>C (p.Leu45Pro)
| |
22 | g.49913632A>T | CA412080863 | ALG12 | c.134T>A (p.Leu45Gln)
| |
22 | g.49913632dup | CA2657454502 | ALG12 | c.134dup (p.Leu46AlafsTer14)
| gnomAD v4 |
22 | g.49913633G>A | CA515106871 | ALG12 | c.133C>T (p.Leu45=)
| ClinVar gnomAD v4 |
22 | g.49913633G>C | CA412080886 | ALG12 | c.133C>G (p.Leu45Val)
| gnomAD v4 |
22 | g.49913633G= | CA2410564852 | ALG12 | c.133C= (p.Leu45=)
| |
22 | g.49913633G>T | CA10300730 | ALG12 | c.133C>A (p.Leu45Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913634G>A | CA10300731 | ALG12 | c.132C>T (p.Asp44=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913634G>C | CA412080910 | ALG12 | c.132C>G (p.Asp44Glu)
| |
22 | g.49913634G= | CA2410564853 | ALG12 | c.132C= (p.Asp44=)
| |
22 | g.49913634G>T | CA412080896 | ALG12 | c.132C>A (p.Asp44Glu)
| |
22 | g.49913635T>A | CA412080911 | ALG12 | c.131A>T (p.Asp44Val)
| |
22 | g.49913635T>C | CA412080917 | ALG12 | c.131A>G (p.Asp44Gly)
| |
22 | g.49913635T>G | CA412080913 | ALG12 | c.131A>C (p.Asp44Ala)
| dbSNP |
22 | g.49913635T= | CA2410564854 | ALG12 | c.131A= (p.Asp44=)
| |
22 | g.49913636C>A | CA412080920 | ALG12 | c.130G>T (p.Asp44Tyr)
| |
22 | g.49913636C>G | CA412080929 | ALG12 | c.130G>C (p.Asp44His)
| |
22 | g.49913636C>T | CA412080924 | ALG12 | c.130G>A (p.Asp44Asn)
| gnomAD v4 |
22 | g.49913637A>C | CA412080933 | ALG12 | c.129T>G (p.His43Gln)
| |
22 | g.49913637A>G | CA515106877 | ALG12 | c.129T>C (p.His43=)
| gnomAD v4 |
22 | g.49913637A>T | CA412080936 | ALG12 | c.129T>A (p.His43Gln)
| |
22 | g.49913638T>A | CA412080939 | ALG12 | c.128A>T (p.His43Leu)
| |
22 | g.49913638T>C | CA412080940 | ALG12 | c.128A>G (p.His43Arg)
| |
22 | g.49913638T>G | CA412080941 | ALG12 | c.128A>C (p.His43Pro)
| |
22 | g.49913639G>A | CA412080943 | ALG12 | c.127C>T (p.His43Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913639G>C | CA412080946 | ALG12 | c.127C>G (p.His43Asp)
| gnomAD v4 |
22 | g.49913639G= | CA2410564855 | ALG12 | c.127C= (p.His43=)
| |
22 | g.49913639G>T | CA412080950 | ALG12 | c.127C>A (p.His43Asn)
| |
22 | g.49913640T>A | CA515106886 | ALG12 | c.126A>T (p.Thr42=)
| |
22 | g.49913640T>C | CA515106887 | ALG12 | c.126A>G (p.Thr42=)
| |
22 | g.49913640T>G | CA515106888 | ALG12 | c.126A>C (p.Thr42=)
| |
22 | g.49913641G>A | CA412080953 | ALG12 | c.125C>T (p.Thr42Ile)
| |
22 | g.49913641G>C | CA412080957 | ALG12 | c.125C>G (p.Thr42Arg)
| |
22 | g.49913641G>T | CA412080961 | ALG12 | c.125C>A (p.Thr42Lys)
| |
22 | g.49913642T>A | CA412080963 | ALG12 | c.124A>T (p.Thr42Ser)
| |
22 | g.49913642T>C | CA412080964 | ALG12 | c.124A>G (p.Thr42Ala)
| gnomAD v4 |
22 | g.49913642T>G | CA325433550 | ALG12 | c.124A>C (p.Thr42Pro)
| dbSNP |
22 | g.49913642T= | CA2410564856 | ALG12 | c.124A= (p.Thr42=)
| |
22 | g.49913643G>A | CA515106893 | ALG12 | c.123C>T (p.Ala41=)
| |
22 | g.49913643G>C | CA515106895 | ALG12 | c.123C>G (p.Ala41=)
| |
22 | g.49913643G>T | CA515106897 | ALG12 | c.123C>A (p.Ala41=)
| |
22 | g.49913644G>A | CA412080974 | ALG12 | c.122C>T (p.Ala41Val)
| |
22 | g.49913644G>C | CA412080970 | ALG12 | c.122C>G (p.Ala41Gly)
| |
22 | g.49913644G>T | CA412080972 | ALG12 | c.122C>A (p.Ala41Asp)
| gnomAD v4 |
22 | g.49913645C>A | CA412080976 | ALG12 | c.121G>T (p.Ala41Ser)
| |
22 | g.49913645C= | CA2410564857 | ALG12 | c.121G= (p.Ala41=)
| |
22 | g.49913645C>G | CA412080978 | ALG12 | c.121G>C (p.Ala41Pro)
| |
22 | g.49913645C>T | CA10300732 | ALG12 | c.121G>A (p.Ala41Thr)
| dbSNP ExAC gnomAD v4 |
22 | g.49913646C>A | CA412080985 | ALG12 | c.120G>T (p.Gln40His)
| |
22 | g.49913646C>G | CA412080989 | ALG12 | c.120G>C (p.Gln40His)
| |
22 | g.49913646C>T | CA515106902 | ALG12 | c.120G>A (p.Gln40=)
| |
22 | g.49913647T>A | CA10300733 | ALG12 | c.119A>T (p.Gln40Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913647T>C | CA412080997 | ALG12 | c.119A>G (p.Gln40Arg)
| gnomAD v4 |
22 | g.49913647T>G | CA412081000 | ALG12 | c.119A>C (p.Gln40Pro)
| gnomAD v4 |
22 | g.49913647T= | CA2410564858 | ALG12 | c.119A= (p.Gln40=)
| |
22 | g.49913648G>A | CA412081006 | ALG12 | c.118C>T (p.Gln40Ter)
| |
22 | g.49913648G>C | CA412081008 | ALG12 | c.118C>G (p.Gln40Glu)
| |
22 | g.49913648G>T | CA412081010 | ALG12 | c.118C>A (p.Gln40Lys)
| |
22 | g.49913648_49913649delinsGC | CA2410564859 | ALG12 | c.117_118delinsGC (p.Leu39=)
| |
22 | g.49913649del | CA10300734 | ALG12 | c.117del (p.Gln40ArgfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913649C>A | CA515106903 | ALG12 | c.117G>T (p.Leu39=)
| gnomAD v4 |
22 | g.49913649C= | CA2410564860 | ALG12 | c.117G= (p.Leu39=)
| |
22 | g.49913649C>G | CA515106904 | ALG12 | c.117G>C (p.Leu39=)
| |
22 | g.49913649C>T | CA325433573 | ALG12 | c.117G>A (p.Leu39=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913650A>C | CA412081036 | ALG12 | c.116T>G (p.Leu39Arg)
| |
22 | g.49913650A>G | CA412081038 | ALG12 | c.116T>C (p.Leu39Pro)
| |
22 | g.49913650A>T | CA412081040 | ALG12 | c.116T>A (p.Leu39Gln)
| |
22 | g.49913651G>A | CA515106911 | ALG12 | c.115C>T (p.Leu39=)
| |
22 | g.49913651G>C | CA412081044 | ALG12 | c.115C>G (p.Leu39Val)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913651G= | CA2410564861 | ALG12 | c.115C= (p.Leu39=)
| |
22 | g.49913651G>T | CA412081053 | ALG12 | c.115C>A (p.Leu39Met)
| |
22 | g.49913652G>A | CA515106912 | ALG12 | c.114C>T (p.Asn38=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913652G>C | CA412081057 | ALG12 | c.114C>G (p.Asn38Lys)
| |
22 | g.49913652G= | CA2410564862 | ALG12 | c.114C= (p.Asn38=)
| |
22 | g.49913652G>T | CA412081061 | ALG12 | c.114C>A (p.Asn38Lys)
| |
22 | g.49913653T>A | CA412081066 | ALG12 | c.113A>T (p.Asn38Ile)
| |
22 | g.49913653T>C | CA412081069 | ALG12 | c.113A>G (p.Asn38Ser)
| |
22 | g.49913653T>G | CA412081070 | ALG12 | c.113A>C (p.Asn38Thr)
| |
22 | g.49913654T>A | CA412081071 | ALG12 | c.112A>T (p.Asn38Tyr)
| |
22 | g.49913654T>C | CA412081072 | ALG12 | c.112A>G (p.Asn38Asp)
| |
22 | g.49913654T>G | CA412081073 | ALG12 | c.112A>C (p.Asn38His)
| |
22 | g.49913655G>A | CA515106917 | ALG12 | c.111C>T (p.Phe37=)
| |
22 | g.49913655G>C | CA412081075 | ALG12 | c.111C>G (p.Phe37Leu)
| gnomAD v4 |
22 | g.49913655G>T | CA412081077 | ALG12 | c.111C>A (p.Phe37Leu)
| |
22 | g.49913656A>C | CA412081081 | ALG12 | c.110T>G (p.Phe37Cys)
| |
22 | g.49913656A>G | CA412081085 | ALG12 | c.110T>C (p.Phe37Ser)
| |
22 | g.49913656A>T | CA412081092 | ALG12 | c.110T>A (p.Phe37Tyr)
| |
22 | g.49913657A>C | CA412081095 | ALG12 | c.109T>G (p.Phe37Val)
| gnomAD v4 |
22 | g.49913657A>G | CA412081100 | ALG12 | c.109T>C (p.Phe37Leu)
| |
22 | g.49913657A>T | CA412081108 | ALG12 | c.109T>A (p.Phe37Ile)
| |
22 | g.49913658G>A | CA515106924 | ALG12 | c.108C>T (p.Ser36=)
| |
22 | g.49913658G>C | CA412081111 | ALG12 | c.108C>G (p.Ser36Arg)
| ClinVar gnomAD v4 |
22 | g.49913658G>T | CA412081114 | ALG12 | c.108C>A (p.Ser36Arg)
| |
22 | g.49913659C>A | CA412081118 | ALG12 | c.107G>T (p.Ser36Ile)
| ClinVar |
22 | g.49913659C>G | CA412081121 | ALG12 | c.107G>C (p.Ser36Thr)
| |
22 | g.49913659C>T | CA412081122 | ALG12 | c.107G>A (p.Ser36Asn)
| |
22 | g.49913660T>A | CA412081124 | ALG12 | c.106A>T (p.Ser36Cys)
| |
22 | g.49913660T>C | CA412081125 | ALG12 | c.106A>G (p.Ser36Gly)
| |
22 | g.49913660T>G | CA412081123 | ALG12 | c.106A>C (p.Ser36Arg)
| |
22 | g.49913660_49913663delinsTCTC | CA2410564863 | ALG12 | c.103_106delinsGAGA (p.Glu35=)
| |
22 | g.49913661C>A | CA412081129 | ALG12 | c.105G>T (p.Glu35Asp)
| |
22 | g.49913661C>G | CA412081133 | ALG12 | c.105G>C (p.Glu35Asp)
| |
22 | g.49913661C>T | CA515106039 | ALG12 | c.105G>A (p.Glu35=)
| ClinVar |
22 | g.49913665_49913667del | CA10300735 | ALG12 | c.103_105del (p.Glu35del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913662T>A | CA412081142 | ALG12 | c.104A>T (p.Glu35Val)
| |
22 | g.49913662T>C | CA412081144 | ALG12 | c.104A>G (p.Glu35Gly)
| |
22 | g.49913662T>G | CA412081148 | ALG12 | c.104A>C (p.Glu35Ala)
| |
22 | g.49913663C>A | CA412081163 | ALG12 | c.103G>T (p.Glu35Ter)
| |
22 | g.49913663C>G | CA412081154 | ALG12 | c.103G>C (p.Glu35Gln)
| |
22 | g.49913663C>T | CA412081159 | ALG12 | c.103G>A (p.Glu35Lys)
| |
22 | g.49913664C>A | CA412081167 | ALG12 | c.102G>T (p.Glu34Asp)
| |
22 | g.49913664C>G | CA412081171 | ALG12 | c.102G>C (p.Glu34Asp)
| |
22 | g.49913664C>T | CA515106049 | ALG12 | c.102G>A (p.Glu34=)
| |
22 | g.49913665T>A | CA412081172 | ALG12 | c.101A>T (p.Glu34Val)
| |
22 | g.49913665T>C | CA412081173 | ALG12 | c.101A>G (p.Glu34Gly)
| |
22 | g.49913665T>G | CA412081174 | ALG12 | c.101A>C (p.Glu34Ala)
| |
22 | g.49913666C>A | CA412081176 | ALG12 | c.100G>T (p.Glu34Ter)
| |
22 | g.49913666C>G | CA412081182 | ALG12 | c.100G>C (p.Glu34Gln)
| gnomAD v4 |
22 | g.49913666C>T | CA412081179 | ALG12 | c.100G>A (p.Glu34Lys)
| |
22 | g.49913667C>A | CA515106056 | ALG12 | c.99G>T (p.Val33=)
| |
22 | g.49913667C= | CA2410564864 | ALG12 | c.99G= (p.Val33=)
| |
22 | g.49913667C>G | CA515106055 | ALG12 | c.99G>C (p.Val33=)
| |
22 | g.49913667C>T | CA10300736 | ALG12 | c.99G>A (p.Val33=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913668A= | CA2410564865 | ALG12 | c.98T= (p.Val33=)
| |
22 | g.49913668A>C | CA412081194 | ALG12 | c.98T>G (p.Val33Gly)
| |
22 | g.49913668A>G | CA412081198 | ALG12 | c.98T>C (p.Val33Ala)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913668A>T | CA412081201 | ALG12 | c.98T>A (p.Val33Glu)
| |
22 | g.49913669C>A | CA412081206 | ALG12 | c.97G>T (p.Val33Leu)
| |
22 | g.49913669C>G | CA412081234 | ALG12 | c.97G>C (p.Val33Leu)
| |
22 | g.49913669C>T | CA412081238 | ALG12 | c.97G>A (p.Val33Met)
| |
22 | g.49913670T>A | CA412081251 | ALG12 | c.96A>T (p.Lys32Asn)
| |
22 | g.49913670T>C | CA515106058 | ALG12 | c.96A>G (p.Lys32=)
| ClinVar dbSNP |
22 | g.49913670T>G | CA412081253 | ALG12 | c.96A>C (p.Lys32Asn)
| |
22 | g.49913671T>A | CA412081254 | ALG12 | c.95A>T (p.Lys32Ile)
| |
22 | g.49913671T>C | CA412081255 | ALG12 | c.95A>G (p.Lys32Arg)
| |
22 | g.49913671T>G | CA412081257 | ALG12 | c.95A>C (p.Lys32Thr)
| |
22 | g.49913672T>A | CA412081260 | ALG12 | c.94A>T (p.Lys32Ter)
| |
22 | g.49913672T>C | CA412081269 | ALG12 | c.94A>G (p.Lys32Glu)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913672T>G | CA412081264 | ALG12 | c.94A>C (p.Lys32Gln)
| |
22 | g.49913672T= | CA2410564866 | ALG12 | c.94A= (p.Lys32=)
| |
22 | g.49913673G>A | CA515106059 | ALG12 | c.93C>T (p.Thr31=)
| |
22 | g.49913673G>C | CA515106060 | ALG12 | c.93C>G (p.Thr31=)
| |
22 | g.49913673G>T | CA515106061 | ALG12 | c.93C>A (p.Thr31=)
| |
22 | g.49913674G>A | CA412081274 | ALG12 | c.92C>T (p.Thr31Ile)
| |
22 | g.49913674G>C | CA412081278 | ALG12 | c.92C>G (p.Thr31Ser)
| |
22 | g.49913674G>T | CA412081281 | ALG12 | c.92C>A (p.Thr31Asn)
| |
22 | g.49913675T>A | CA412081285 | ALG12 | c.91A>T (p.Thr31Ser)
| |
22 | g.49913675T>C | CA412081289 | ALG12 | c.91A>G (p.Thr31Ala)
| ClinVar dbSNP gnomAD v4 |
22 | g.49913675T>G | CA412081294 | ALG12 | c.91A>C (p.Thr31Pro)
| |
22 | g.49913675T= | CA2410564867 | ALG12 | c.91A= (p.Thr31=)
| |
22 | g.49913676G>A | CA515106065 | ALG12 | c.90C>T (p.Tyr30=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913676G>C | CA412081299 | ALG12 | c.90C>G (p.Tyr30Ter)
| |
22 | g.49913676G= | CA2410564868 | ALG12 | c.90C= (p.Tyr30=)
| |
22 | g.49913676G>T | CA412081296 | ALG12 | c.90C>A (p.Tyr30Ter)
| |
22 | g.49913677T>A | CA412081306 | ALG12 | c.89A>T (p.Tyr30Phe)
| |
22 | g.49913677T>C | CA412081309 | ALG12 | c.89A>G (p.Tyr30Cys)
| |
22 | g.49913677T>G | CA412081313 | ALG12 | c.89A>C (p.Tyr30Ser)
| |
22 | g.49913678A= | CA2410564869 | ALG12 | c.88T= (p.Tyr30=)
| |
22 | g.49913678A>C | CA412081317 | ALG12 | c.88T>G (p.Tyr30Asp)
| |
22 | g.49913678A>G | CA412081320 | ALG12 | c.88T>C (p.Tyr30His)
| gnomAD v4 |
22 | g.49913678A>T | CA412081325 | ALG12 | c.88T>A (p.Tyr30Asn)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913679G>A | CA515106066 | ALG12 | c.87C>T (p.Pro29=)
| |
22 | g.49913679G>C | CA515106067 | ALG12 | c.87C>G (p.Pro29=)
| |
22 | g.49913679G>T | CA515106068 | ALG12 | c.87C>A (p.Pro29=)
| |
22 | g.49913681del | CA2657454681 | ALG12 | c.87del (p.Tyr30ThrfsTer?)
| gnomAD v4 |
22 | g.49913680G>A | CA412081328 | ALG12 | c.86C>T (p.Pro29Leu)
| |
22 | g.49913680G>C | CA412081335 | ALG12 | c.86C>G (p.Pro29Arg)
| |
22 | g.49913680G>T | CA412081332 | ALG12 | c.86C>A (p.Pro29His)
| |
22 | g.49913681G>A | CA412081341 | ALG12 | c.85C>T (p.Pro29Ser)
| ClinVar dbSNP gnomAD v4 |
22 | g.49913681G>C | CA412081368 | ALG12 | c.85C>G (p.Pro29Ala)
| |
22 | g.49913681G= | CA2410564870 | ALG12 | c.85C= (p.Pro29=)
| |
22 | g.49913681G>T | CA412081373 | ALG12 | c.85C>A (p.Pro29Thr)
| |
22 | g.49913682A= | CA2410564871 | ALG12 | c.84T= (p.Cys28=)
| |
22 | g.49913682A>C | CA412081382 | ALG12 | c.84T>G (p.Cys28Trp)
| |
22 | g.49913682A>G | CA515106069 | ALG12 | c.84T>C (p.Cys28=)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913682A>T | CA412081384 | ALG12 | c.84T>A (p.Cys28Ter)
| |
22 | g.49913683C>A | CA412081388 | ALG12 | c.83G>T (p.Cys28Phe)
| dbSNP |
22 | g.49913683C= | CA2410564872 | ALG12 | c.83G= (p.Cys28=)
| |
22 | g.49913683C>G | CA412081394 | ALG12 | c.83G>C (p.Cys28Ser)
| |
22 | g.49913683C>T | CA412081395 | ALG12 | c.83G>A (p.Cys28Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913684A>C | CA412081398 | ALG12 | c.82T>G (p.Cys28Gly)
| |
22 | g.49913684A>G | CA412081401 | ALG12 | c.82T>C (p.Cys28Arg)
| |
22 | g.49913684A>T | CA412081404 | ALG12 | c.82T>A (p.Cys28Ser)
| |
22 | g.49913685G>A | CA515106070 | ALG12 | c.81C>T (p.Ile27=)
| ClinVar dbSNP |
22 | g.49913685G>C | CA412081414 | ALG12 | c.81C>G (p.Ile27Met)
| |
22 | g.49913685G>T | CA515106071 | ALG12 | c.81C>A (p.Ile27=)
| |
22 | g.49913686A>C | CA412081421 | ALG12 | c.80T>G (p.Ile27Ser)
| |
22 | g.49913686A>G | CA412081416 | ALG12 | c.80T>C (p.Ile27Thr)
| |
22 | g.49913686A>T | CA412081423 | ALG12 | c.80T>A (p.Ile27Asn)
| |
22 | g.49913687T>A | CA412081428 | ALG12 | c.79A>T (p.Ile27Phe)
| |
22 | g.49913687T>C | CA412081432 | ALG12 | c.79A>G (p.Ile27Val)
| gnomAD v4 |
22 | g.49913687T>G | CA412081431 | ALG12 | c.79A>C (p.Ile27Leu)
| |
22 | g.49913688G>A | CA515106074 | ALG12 | c.78C>T (p.Val26=)
| |
22 | g.49913688G>C | CA515106072 | ALG12 | c.78C>G (p.Val26=)
| |
22 | g.49913688G>T | CA515106073 | ALG12 | c.78C>A (p.Val26=)
| gnomAD v4 |
22 | g.49913689A= | CA2410564873 | ALG12 | c.77T= (p.Val26=)
| |
22 | g.49913689A>C | CA412081436 | ALG12 | c.77T>G (p.Val26Gly)
| |
22 | g.49913689A>G | CA412081447 | ALG12 | c.77T>C (p.Val26Ala)
| |
22 | g.49913689A>T | CA412081450 | ALG12 | c.77T>A (p.Val26Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913690C>A | CA412081457 | ALG12 | c.76G>T (p.Val26Phe)
| |
22 | g.49913690C= | CA2410564874 | ALG12 | c.76G= (p.Val26=)
| |
22 | g.49913690C>G | CA412081460 | ALG12 | c.76G>C (p.Val26Leu)
| gnomAD v4 |
22 | g.49913690C>T | CA10300737 | ALG12 | c.76G>A (p.Val26Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913691del | CA2577757015 | ALG12 | c.76del (p.Val26SerfsTer?)
| gnomAD v4 |