22 | g.49913543_49913588delinsCACCGGGGCCCTGCCAGCTGGTAACATGAGGTTTTCCCCAAAGACA | CA2410564795 | ALG12 | c.162+16_163-26delinsTGTCTTTGGGGAAAACCTCATGTTACCAGCTGGCAGGGCCCCGGTG (n.162+16_163-26delinsTGTCTTTGGGGAAAACCTCATGTTACCAGCTGGCAGGGCCCCGGTG)
| |
22 | g.49913544_49913588del | CA640352374 | ALG12 | c.162+16_163-27del (n.162+16_163-27del)
| dbSNP gnomAD v2 |
22 | g.49913545C>G | CA2657454154 | ALG12 | c.163-28G>C (n.163-28G>C)
| gnomAD v4 |
22 | g.49913545C>T | CA2577756995 | ALG12 | c.163-28G>A (n.163-28G>A)
| |
22 | g.49913546C>A | CA2657454158 | ALG12 | c.163-29G>T (n.163-29G>T)
| gnomAD v4 |
22 | g.49913546C= | CA2410564797 | ALG12 | c.163-29G= (n.163-29G=)
| |
22 | g.49913546C>T | CA10300715 | ALG12 | c.163-29G>A (n.163-29G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913547G>A | CA10300716 | ALG12 | c.163-30C>T (n.163-30C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913547G= | CA2410564798 | ALG12 | c.163-30C= (n.163-30C=)
| |
22 | g.49913547G>T | CA2819295119 | ALG12 | c.163-30C>A (n.163-30C>A)
| |
22 | g.49913550dup | CA2577756996 | ALG12 | c.163-30dup (n.163-30dup)
| gnomAD v4 |
22 | g.49913548G>C | CA10300717 | ALG12 | c.163-31C>G (n.163-31C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913548G= | CA2410564799 | ALG12 | c.163-31C= (n.163-31C=)
| |
22 | g.49913550G>A | CA640352375 | ALG12 | c.163-33C>T (n.163-33C>T)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913550G= | CA2410564800 | ALG12 | c.163-33C= (n.163-33C=)
| |
22 | g.49913550G>T | CA2842486016 | ALG12 | c.163-33C>A (n.163-33C>A)
| |
22 | g.49913552C>A | CA2577756997 | ALG12 | c.163-35G>T (n.163-35G>T)
| gnomAD v4 |
22 | g.49913552C= | CA2410564801 | ALG12 | c.163-35G= (n.163-35G=)
| |
22 | g.49913552C>T | CA10300718 | ALG12 | c.163-35G>A (n.163-35G>A)
| dbSNP ExAC gnomAD v2 |
22 | g.49913554T>C | CA2657454170 | ALG12 | c.163-37A>G (n.163-37A>G)
| gnomAD v4 |
22 | g.49913555dup | CA2838809742 | ALG12 | c.163-38dup (n.163-38dup)
| |
22 | g.49913557C= | CA2410564802 | ALG12 | c.163-40G= (n.163-40G=)
| |
22 | g.49913557C>T | CA2410564803 | ALG12 | c.163-40G>A (n.163-40G>A)
| dbSNP |
22 | g.49913562G>A | CA2410564805 | ALG12 | c.162+42C>T (n.162+42C>T)
| dbSNP gnomAD v4 |
22 | g.49913562G= | CA2410564804 | ALG12 | c.162+42C= (n.162+42C=)
| |
22 | g.49913563G= | CA2410564806 | ALG12 | c.162+41C= (n.162+41C=)
| |
22 | g.49913563G>T | CA640352376 | ALG12 | c.162+41C>A (n.162+41C>A)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913564T>C | CA325433471 | ALG12 | c.162+40A>G (n.162+40A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913564T= | CA2410564807 | ALG12 | c.162+40A= (n.162+40A=)
| |
22 | g.49913567C= | CA2410564808 | ALG12 | c.162+37G= (n.162+37G=)
| |
22 | g.49913567C>T | CA10300719 | ALG12 | c.162+37G>A (n.162+37G>A)
| dbSNP ExAC gnomAD v2 |
22 | g.49913568A= | CA2410564809 | ALG12 | c.162+36T= (n.162+36T=)
| |
22 | g.49913568A>C | CA2657454184 | ALG12 | c.162+36T>G (n.162+36T>G)
| gnomAD v4 |
22 | g.49913568A>G | CA754007747 | ALG12 | c.162+36T>C (n.162+36T>C)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913569T>A | CA2657454190 | ALG12 | c.162+35A>T (n.162+35A>T)
| gnomAD v4 |
22 | g.49913569T>C | CA640352377 | ALG12 | c.162+35A>G (n.162+35A>G)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913569T= | CA2410564810 | ALG12 | c.162+35A= (n.162+35A=)
| |
22 | g.49913570G>A | CA2738156883 | ALG12 | c.162+34C>T (n.162+34C>T)
| dbSNP |
22 | g.49913570G>C | CA754007765 | ALG12 | c.162+34C>G (n.162+34C>G)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913570G= | CA2410564811 | ALG12 | c.162+34C= (n.162+34C=)
| |
22 | g.49913572G>C | CA325433480 | ALG12 | c.162+32C>G (n.162+32C>G)
| dbSNP |
22 | g.49913572G= | CA2410564812 | ALG12 | c.162+32C= (n.162+32C=)
| |
22 | g.49913572G>T | CA640352378 | ALG12 | c.162+32C>A (n.162+32C>A)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913575T>A | CA2657454226 | ALG12 | c.162+29A>T (n.162+29A>T)
| gnomAD v4 |
22 | g.49913577T>G | CA2577756998 | ALG12 | c.162+27A>C (n.162+27A>C)
| |
22 | g.49913577T= | CA2410564813 | ALG12 | c.162+27A= (n.162+27A=)
| |
22 | g.49913578C= | CA2410564814 | ALG12 | c.162+26G= (n.162+26G=)
| |
22 | g.49913578C>G | CA10300720 | ALG12 | c.162+26G>C (n.162+26G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913578C>T | CA2657454256 | ALG12 | c.162+26G>A (n.162+26G>A)
| gnomAD v4 |
22 | g.49913581dup | CA325433483 | ALG12 | c.162+26dup (n.162+26dup)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913579C>T | CA2657454262 | ALG12 | c.162+25G>A (n.162+25G>A)
| gnomAD v4 |
22 | g.49913580C>A | CA2577756999 | ALG12 | c.162+24G>T (n.162+24G>T)
| |
22 | g.49913580C= | CA2410564815 | ALG12 | c.162+24G= (n.162+24G=)
| |
22 | g.49913580C>T | CA10300721 | ALG12 | c.162+24G>A (n.162+24G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913581C>A | CA2577757000 | ALG12 | c.162+23G>T (n.162+23G>T)
| gnomAD v4 |
22 | g.49913581_49913582delinsCA | CA2410564816 | ALG12 | c.162+22_162+23delinsTG (n.162+22_162+23delinsTG)
| |
22 | g.49913582A= | CA2410564817 | ALG12 | c.162+22T= (n.162+22T=)
| |
22 | g.49913582A>C | CA2410564818 | ALG12 | c.162+22T>G (n.162+22T>G)
| dbSNP |
22 | g.49913584del | CA10300722 | ALG12 | c.162+22del (n.162+22del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913585G>A | CA10300723 | ALG12 | c.162+19C>T (n.162+19C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913585G= | CA2410564819 | ALG12 | c.162+19C= (n.162+19C=)
| |
22 | g.49913586A= | CA2410564820 | ALG12 | c.162+18T= (n.162+18T=)
| |
22 | g.49913586A>G | CA2410564821 | ALG12 | c.162+18T>C (n.162+18T>C)
| ClinVar dbSNP gnomAD v4 |
22 | g.49913588A= | CA2410564822 | ALG12 | c.162+16T= (n.162+16T=)
| |
22 | g.49913588A>C | CA10300724 | ALG12 | c.162+16T>G (n.162+16T>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913588A>G | CA325433510 | ALG12 | c.162+16T>C (n.162+16T>C)
| dbSNP |
22 | g.49913589G>A | CA2657454292 | ALG12 | c.162+15C>T (n.162+15C>T)
| gnomAD v4 |
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 |