22 | g.49913697G>A | CA10300738 | ALG12 | c.69C>T (p.Val23=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913697G>C | CA515106080 | ALG12 | c.69C>G (p.Val23=)
| |
22 | g.49913697G= | CA2410564878 | ALG12 | c.69C= (p.Val23=)
| |
22 | g.49913697G>T | CA515106081 | ALG12 | c.69C>A (p.Val23=)
| |
22 | g.49913698A= | CA2410564879 | ALG12 | c.68T= (p.Val23=)
| |
22 | g.49913698A>C | CA412081524 | ALG12 | c.68T>G (p.Val23Gly)
| |
22 | g.49913698A>G | CA10300739 | ALG12 | c.68T>C (p.Val23Ala)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
22 | g.49913698A>T | CA412081525 | ALG12 | c.68T>A (p.Val23Asp)
| |
22 | g.49913699C>A | CA412081529 | ALG12 | c.67G>T (p.Val23Phe)
| |
22 | g.49913699C>G | CA412081530 | ALG12 | c.67G>C (p.Val23Leu)
| |
22 | g.49913699C>T | CA412081534 | ALG12 | c.67G>A (p.Val23Ile)
| |
22 | g.49913700A= | CA2410564880 | ALG12 | c.66T= (p.Thr22=)
| |
22 | g.49913700A>C | CA515106082 | ALG12 | c.66T>G (p.Thr22=)
| gnomAD v4 |
22 | g.49913700A>G | CA515106083 | ALG12 | c.66T>C (p.Thr22=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913700A>T | CA515106084 | ALG12 | c.66T>A (p.Thr22=)
| |
22 | g.49913701G>A | CA412081547 | ALG12 | c.65C>T (p.Thr22Ile)
| |
22 | g.49913701G>C | CA412081544 | ALG12 | c.65C>G (p.Thr22Ser)
| |
22 | g.49913701G>T | CA412081537 | ALG12 | c.65C>A (p.Thr22Asn)
| |
22 | g.49913702T>A | CA412081549 | ALG12 | c.64A>T (p.Thr22Ser)
| |
22 | g.49913702T>C | CA412081554 | ALG12 | c.64A>G (p.Thr22Ala)
| |
22 | g.49913702T>G | CA412081557 | ALG12 | c.64A>C (p.Thr22Pro)
| gnomAD v4 |
22 | g.49913703G>A | CA515106085 | ALG12 | c.63C>T (p.Ala21=)
| dbSNP gnomAD v4 |
22 | g.49913703G>C | CA515106086 | ALG12 | c.63C>G (p.Ala21=)
| |
22 | g.49913703G= | CA2410564881 | ALG12 | c.63C= (p.Ala21=)
| |
22 | g.49913703G>T | CA515106087 | ALG12 | c.63C>A (p.Ala21=)
| |
22 | g.49913704G>A | CA10300740 | ALG12 | c.62C>T (p.Ala21Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913704G>C | CA412081563 | ALG12 | c.62C>G (p.Ala21Gly)
| |
22 | g.49913704G= | CA2410564882 | ALG12 | c.62C= (p.Ala21=)
| |
22 | g.49913704G>T | CA412081566 | ALG12 | c.62C>A (p.Ala21Asp)
| |
22 | g.49913705C>A | CA412081567 | ALG12 | c.61G>T (p.Ala21Ser)
| |
22 | g.49913705C>G | CA412081568 | ALG12 | c.61G>C (p.Ala21Pro)
| |
22 | g.49913705C>T | CA412081569 | ALG12 | c.61G>A (p.Ala21Thr)
| |
22 | g.49913706T>A | CA515106088 | ALG12 | c.60A>T (p.Val20=)
| |
22 | g.49913706T>C | CA515106089 | ALG12 | c.60A>G (p.Val20=)
| |
22 | g.49913706T>G | CA515106090 | ALG12 | c.60A>C (p.Val20=)
| |
22 | g.49913707A>C | CA412081571 | ALG12 | c.59T>G (p.Val20Gly)
| |
22 | g.49913707A>G | CA412081572 | ALG12 | c.59T>C (p.Val20Ala)
| |
22 | g.49913707A>T | CA412081574 | ALG12 | c.59T>A (p.Val20Glu)
| |
22 | g.49913708C>A | CA10300741 | ALG12 | c.58G>T (p.Val20Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913708C= | CA2410564883 | ALG12 | c.58G= (p.Val20=)
| |
22 | g.49913708C>G | CA412081579 | ALG12 | c.58G>C (p.Val20Leu)
| |
22 | g.49913708C>T | CA10300742 | ALG12 | c.58G>A (p.Val20Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913709_49913718dup | CA2738226432 | ALG12 | c.49_58dup (p.Val20AlafsTer28)
| dbSNP |
22 | g.49913709G>A | CA10300743 | ALG12 | c.57C>T (p.Ala19=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913709G>C | CA515106091 | ALG12 | c.57C>G (p.Ala19=)
| |
22 | g.49913709G= | CA2410564884 | ALG12 | c.57C= (p.Ala19=)
| |
22 | g.49913709G>T | CA515106092 | ALG12 | c.57C>A (p.Ala19=)
| |
22 | g.49913710G>A | CA412081586 | ALG12 | c.56C>T (p.Ala19Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913710G>C | CA412081587 | ALG12 | c.56C>G (p.Ala19Gly)
| |
22 | g.49913710G= | CA2410564885 | ALG12 | c.56C= (p.Ala19=)
| |
22 | g.49913710G>T | CA412081588 | ALG12 | c.56C>A (p.Ala19Asp)
| |
22 | g.49913711C>A | CA412081589 | ALG12 | c.55G>T (p.Ala19Ser)
| |
22 | g.49913711C= | CA2410564886 | ALG12 | c.55G= (p.Ala19=)
| |
22 | g.49913711C>G | CA412081595 | ALG12 | c.55G>C (p.Ala19Pro)
| |
22 | g.49913711C>T | CA10300744 | ALG12 | c.55G>A (p.Ala19Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913712C>A | CA515106093 | ALG12 | c.54G>T (p.Val18=)
| gnomAD v4 |
22 | g.49913712C= | CA2410564887 | ALG12 | c.54G= (p.Val18=)
| |
22 | g.49913712C>G | CA515106094 | ALG12 | c.54G>C (p.Val18=)
| |
22 | g.49913712C>T | CA515106095 | ALG12 | c.54G>A (p.Val18=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913713A= | CA2410564888 | ALG12 | c.53T= (p.Val18=)
| |
22 | g.49913713A>C | CA412081603 | ALG12 | c.53T>G (p.Val18Gly)
| |
22 | g.49913713A>G | CA10300745 | ALG12 | c.53T>C (p.Val18Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913713A>T | CA412081607 | ALG12 | c.53T>A (p.Val18Glu)
| |
22 | g.49913714C>A | CA412081610 | ALG12 | c.52G>T (p.Val18Leu)
| |
22 | g.49913714C= | CA2410564889 | ALG12 | c.52G= (p.Val18=)
| |
22 | g.49913714C>G | CA412081613 | ALG12 | c.52G>C (p.Val18Leu)
| |
22 | g.49913714C>T | CA412081617 | ALG12 | c.52G>A (p.Val18Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913714_49913717delinsCCAG | CA2410564890 | ALG12 | c.49_52delinsCTGG (p.Leu17=)
| |
22 | g.49913722_49913730dup | CA2657454789 | ALG12 | c.44_52dup (p.Leu17_Val18insGlyLeuLeu)
| gnomAD v4 |
22 | g.49913715C>A | CA515106097 | ALG12 | c.51G>T (p.Leu17=)
| |
22 | g.49913715C= | CA2410564891 | ALG12 | c.51G= (p.Leu17=)
| |
22 | g.49913715C>G | CA10300746 | ALG12 | c.51G>C (p.Leu17=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913715C>T | CA515106096 | ALG12 | c.51G>A (p.Leu17=)
| dbSNP |
22 | g.49913719_49913721del | CA920389817 | ALG12 | c.49_51del (p.Leu17del)
| dbSNP |
22 | g.49913716A>C | CA412081626 | ALG12 | c.50T>G (p.Leu17Arg)
| |
22 | g.49913716A>G | CA412081623 | ALG12 | c.50T>C (p.Leu17Pro)
| gnomAD v4 |
22 | g.49913716A>T | CA412081628 | ALG12 | c.50T>A (p.Leu17Gln)
| |
22 | g.49913717G>A | CA515106098 | ALG12 | c.49C>T (p.Leu17=)
| ClinVar dbSNP |
22 | g.49913717G>C | CA412081632 | ALG12 | c.49C>G (p.Leu17Val)
| |
22 | g.49913717G>T | CA412081633 | ALG12 | c.49C>A (p.Leu17Met)
| |
22 | g.49913718C>A | CA515106099 | ALG12 | c.48G>T (p.Leu16=)
| dbSNP gnomAD v4 |
22 | g.49913718C= | CA2410564892 | ALG12 | c.48G= (p.Leu16=)
| |
22 | g.49913718C>G | CA10300747 | ALG12 | c.48G>C (p.Leu16=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913718C>T | CA10300748 | ALG12 | c.48G>A (p.Leu16=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913719A>C | CA412081635 | ALG12 | c.47T>G (p.Leu16Arg)
| |
22 | g.49913719A>G | CA412081639 | ALG12 | c.47T>C (p.Leu16Pro)
| |
22 | g.49913719A>T | CA412081650 | ALG12 | c.47T>A (p.Leu16Gln)
| |
22 | g.49913720G>A | CA515106100 | ALG12 | c.46C>T (p.Leu16=)
| |
22 | g.49913720G>C | CA412081653 | ALG12 | c.46C>G (p.Leu16Val)
| |
22 | g.49913720G>T | CA412081655 | ALG12 | c.46C>A (p.Leu16Met)
| |
22 | g.49913721C>A | CA10300749 | ALG12 | c.45G>T (p.Gly15=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913721C= | CA2410564893 | ALG12 | c.45G= (p.Gly15=)
| |
22 | g.49913721C>G | CA515106102 | ALG12 | c.45G>C (p.Gly15=)
| dbSNP gnomAD v2 |
22 | g.49913721C>T | CA515106101 | ALG12 | c.45G>A (p.Gly15=)
| |
22 | g.49913722C>A | CA412081658 | ALG12 | c.44G>T (p.Gly15Val)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913722C= | CA2410564894 | ALG12 | c.44G= (p.Gly15=)
| |
22 | g.49913722C>G | CA412081661 | ALG12 | c.44G>C (p.Gly15Ala)
| |
22 | g.49913722C>T | CA10300750 | ALG12 | c.44G>A (p.Gly15Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913723C>A | CA412081670 | ALG12 | c.43G>T (p.Gly15Trp)
| |
22 | g.49913723C>G | CA412081665 | ALG12 | c.43G>C (p.Gly15Arg)
| |
22 | g.49913723C>T | CA412081667 | ALG12 | c.43G>A (p.Gly15Arg)
| |
22 | g.49913724C>A | CA515106103 | ALG12 | c.42G>T (p.Leu14=)
| |
22 | g.49913724C>G | CA515106104 | ALG12 | c.42G>C (p.Leu14=)
| |
22 | g.49913724C>T | CA515106105 | ALG12 | c.42G>A (p.Leu14=)
| |
22 | g.49913725A>C | CA412081673 | ALG12 | c.41T>G (p.Leu14Arg)
| |
22 | g.49913725A>G | CA412081675 | ALG12 | c.41T>C (p.Leu14Pro)
| |
22 | g.49913725A>T | CA412081678 | ALG12 | c.41T>A (p.Leu14Gln)
| |
22 | g.49913726G>A | CA515106106 | ALG12 | c.40C>T (p.Leu14=)
| ClinVar |
22 | g.49913726G>C | CA412081680 | ALG12 | c.40C>G (p.Leu14Val)
| |
22 | g.49913726G>T | CA412081690 | ALG12 | c.40C>A (p.Leu14Met)
| |
22 | g.49913727C>A | CA515106107 | ALG12 | c.39G>T (p.Leu13=)
| |
22 | g.49913727C>G | CA515106109 | ALG12 | c.39G>C (p.Leu13=)
| |
22 | g.49913727C>T | CA515106108 | ALG12 | c.39G>A (p.Leu13=)
| |
22 | g.49913728A= | CA2410564895 | ALG12 | c.38T= (p.Leu13=)
| |
22 | g.49913728A>C | CA412081695 | ALG12 | c.38T>G (p.Leu13Arg)
| dbSNP gnomAD v2 |
22 | g.49913728A>G | CA412081698 | ALG12 | c.38T>C (p.Leu13Pro)
| |
22 | g.49913728A>T | CA412081705 | ALG12 | c.38T>A (p.Leu13Gln)
| |
22 | g.49913729G>A | CA515106110 | ALG12 | c.37C>T (p.Leu13=)
| gnomAD v4 |
22 | g.49913729G>C | CA412081708 | ALG12 | c.37C>G (p.Leu13Val)
| |
22 | g.49913729G>T | CA412081710 | ALG12 | c.37C>A (p.Leu13Met)
| |
22 | g.49913730C>A | CA515106111 | ALG12 | c.36G>T (p.Leu12=)
| |
22 | g.49913730C= | CA2410564896 | ALG12 | c.36G= (p.Leu12=)
| |
22 | g.49913730C>G | CA10300751 | ALG12 | c.36G>C (p.Leu12=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913730C>T | CA515106112 | ALG12 | c.36G>A (p.Leu12=)
| |
22 | g.49913731A>C | CA412081729 | ALG12 | c.35T>G (p.Leu12Arg)
| |
22 | g.49913731A>G | CA412081722 | ALG12 | c.35T>C (p.Leu12Pro)
| |
22 | g.49913731A>T | CA412081720 | ALG12 | c.35T>A (p.Leu12Gln)
| |
22 | g.49913732G>A | CA515106113 | ALG12 | c.34C>T (p.Leu12=)
| |
22 | g.49913732G>C | CA412081732 | ALG12 | c.34C>G (p.Leu12Val)
| gnomAD v4 |
22 | g.49913732G>T | CA412081735 | ALG12 | c.34C>A (p.Leu12Met)
| |
22 | g.49913733G>A | CA10300752 | ALG12 | c.33C>T (p.Pro11=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913733G>C | CA515106114 | ALG12 | c.33C>G (p.Pro11=)
| |
22 | g.49913733G= | CA2410564897 | ALG12 | c.33C= (p.Pro11=)
| |
22 | g.49913733G>T | CA515106115 | ALG12 | c.33C>A (p.Pro11=)
| |
22 | g.49913734_49913746dup | CA2577757022 | ALG12 | c.21_33dup (p.Leu12ArgfsTer?)
| ClinVar gnomAD v4 |
22 | g.49913734G>A | CA412081743 | ALG12 | c.32C>T (p.Pro11Leu)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913734G>C | CA412081754 | ALG12 | c.32C>G (p.Pro11Arg)
| |
22 | g.49913734G= | CA2410564898 | ALG12 | c.32C= (p.Pro11=)
| |
22 | g.49913734G>T | CA412081755 | ALG12 | c.32C>A (p.Pro11His)
| |
22 | g.49913735G>A | CA10300753 | ALG12 | c.31C>T (p.Pro11Ser)
| dbSNP ExAC gnomAD v4 |
22 | g.49913735G>C | CA412081756 | ALG12 | c.31C>G (p.Pro11Ala)
| gnomAD v4 |
22 | g.49913735G= | CA2410564899 | ALG12 | c.31C= (p.Pro11=)
| |
22 | g.49913735G>T | CA412081757 | ALG12 | c.31C>A (p.Pro11Thr)
| |
22 | g.49913735_49913736delinsGC | CA2410564900 | ALG12 | c.30_31delinsGC (p.Arg10=)
| |
22 | g.49913736C>A | CA515106117 | ALG12 | c.30G>T (p.Arg10=)
| |
22 | g.49913736C= | CA2410564901 | ALG12 | c.30G= (p.Arg10=)
| |
22 | g.49913736C>G | CA10300754 | ALG12 | c.30G>C (p.Arg10=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913736C>T | CA515106116 | ALG12 | c.30G>A (p.Arg10=)
| ClinVar dbSNP |
22 | g.49913737del | CA640352311 | ALG12 | c.30del (p.Leu12CysfsTer9)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913736_49913737insT | CA2741724288 | ALG12 | c.29_30insA (p.Pro11AlafsTer?)
| |
22 | g.49913737C>A | CA412081761 | ALG12 | c.29G>T (p.Arg10Leu)
| |
22 | g.49913737C= | CA2410564902 | ALG12 | c.29G= (p.Arg10=)
| |
22 | g.49913737C>G | CA412081763 | ALG12 | c.29G>C (p.Arg10Pro)
| gnomAD v4 |
22 | g.49913737C>T | CA10300755 | ALG12 | c.29G>A (p.Arg10Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913737_49913738insAGGTAAGCTACCAGGGAAGGTCATGGCCCAGCTTAGCTGTGGGCAGGCA | CA2741724289 | ALG12 | c.28_29insTGCCTGCCCACAGCTAAGCTGGGCCATGACCTTCCCTGGTAGCTTACCT (p.Arg10LeufsTer6)
| |
22 | g.49913738G>A | CA10300756 | ALG12 | c.28C>T (p.Arg10Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913738G>C | CA10300757 | ALG12 | c.28C>G (p.Arg10Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913738G= | CA2410564903 | ALG12 | c.28C= (p.Arg10=)
| |
22 | g.49913738G>T | CA515106118 | ALG12 | c.28C>A (p.Arg10=)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913739C>A | CA412081771 | ALG12 | c.27G>T (p.Arg9Ser)
| |
22 | g.49913739C>G | CA412081773 | ALG12 | c.27G>C (p.Arg9Ser)
| |
22 | g.49913739C>T | CA515106119 | ALG12 | c.27G>A (p.Arg9=)
| |
22 | g.49913740C>A | CA412081777 | ALG12 | c.26G>T (p.Arg9Met)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913740C= | CA2410564904 | ALG12 | c.26G= (p.Arg9=)
| |
22 | g.49913740C>G | CA412081779 | ALG12 | c.26G>C (p.Arg9Thr)
| |
22 | g.49913740C>T | CA10300758 | ALG12 | c.26G>A (p.Arg9Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913741T>A | CA412081788 | ALG12 | c.25A>T (p.Arg9Trp)
| |
22 | g.49913741T>C | CA412081790 | ALG12 | c.25A>G (p.Arg9Gly)
| |
22 | g.49913741T>G | CA515106120 | ALG12 | c.25A>C (p.Arg9=)
| |
22 | g.49913742G>A | CA515106121 | ALG12 | c.24C>T (p.Gly8=)
| |
22 | g.49913742G>C | CA515106122 | ALG12 | c.24C>G (p.Gly8=)
| |
22 | g.49913742G>T | CA515106123 | ALG12 | c.24C>A (p.Gly8=)
| gnomAD v4 |
22 | g.49913743C>A | CA412081793 | ALG12 | c.23G>T (p.Gly8Val)
| |
22 | g.49913743C>G | CA412081798 | ALG12 | c.23G>C (p.Gly8Ala)
| |
22 | g.49913743C>T | CA412081800 | ALG12 | c.23G>A (p.Gly8Asp)
| gnomAD v4 |
22 | g.49913744C>A | CA412081804 | ALG12 | c.22G>T (p.Gly8Cys)
| |
22 | g.49913744C>G | CA412081807 | ALG12 | c.22G>C (p.Gly8Arg)
| |
22 | g.49913744C>T | CA412081808 | ALG12 | c.22G>A (p.Gly8Ser)
| |
22 | g.49913745T>A | CA515106124 | ALG12 | c.21A>T (p.Ser7=)
| |
22 | g.49913745T>C | CA10300759 | ALG12 | c.21A>G (p.Ser7=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913745T>G | CA515106125 | ALG12 | c.21A>C (p.Ser7=)
| |
22 | g.49913745T= | CA2410564905 | ALG12 | c.21A= (p.Ser7=)
| |
22 | g.49913746G>A | CA412081814 | ALG12 | c.20C>T (p.Ser7Leu)
| |
22 | g.49913746G>C | CA412081812 | ALG12 | c.20C>G (p.Ser7Ter)
| |
22 | g.49913746G>T | CA412081816 | ALG12 | c.20C>A (p.Ser7Ter)
| |
22 | g.49913747A>C | CA412081822 | ALG12 | c.19T>G (p.Ser7Ala)
| |
22 | g.49913747A>G | CA412081830 | ALG12 | c.19T>C (p.Ser7Pro)
| |
22 | g.49913747A>T | CA412081827 | ALG12 | c.19T>A (p.Ser7Thr)
| |
22 | g.49913748T>A | CA515106126 | ALG12 | c.18A>T (p.Ser6=)
| |
22 | g.49913748T>C | CA10300760 | ALG12 | c.18A>G (p.Ser6=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913748T>G | CA515106127 | ALG12 | c.18A>C (p.Ser6=)
| |
22 | g.49913748T= | CA2410564906 | ALG12 | c.18A= (p.Ser6=)
| |
22 | g.49913749G>A | CA412081839 | ALG12 | c.17C>T (p.Ser6Leu)
| dbSNP |
22 | g.49913749G>C | CA412081835 | ALG12 | c.17C>G (p.Ser6Ter)
| |
22 | g.49913749G= | CA2410564907 | ALG12 | c.17C= (p.Ser6=)
| |
22 | g.49913749G>T | CA412081837 | ALG12 | c.17C>A (p.Ser6Ter)
| |
22 | g.49913750A>C | CA412081841 | ALG12 | c.16T>G (p.Ser6Ala)
| |
22 | g.49913750A>G | CA412081845 | ALG12 | c.16T>C (p.Ser6Pro)
| |
22 | g.49913750A>T | CA412081846 | ALG12 | c.16T>A (p.Ser6Thr)
| |
22 | g.49913750_49913752del | CA2657454912 | ALG12 | c.14_16del (p.Gly5_Ser6delinsAla)
| gnomAD v4 |
22 | g.49913751C>A | CA515106128 | ALG12 | c.15G>T (p.Gly5=)
| |
22 | g.49913751C= | CA2410564908 | ALG12 | c.15G= (p.Gly5=)
| |
22 | g.49913751C>G | CA515106129 | ALG12 | c.15G>C (p.Gly5=)
| |
22 | g.49913751C>T | CA325433653 | ALG12 | c.15G>A (p.Gly5=)
| dbSNP gnomAD v4 |
22 | g.49913754dup | CA2842486017 | ALG12 | c.15dup (p.Ser6ValfsTer?)
| |
22 | g.49913752C>A | CA412081847 | ALG12 | c.14G>T (p.Gly5Val)
| |
22 | g.49913752C= | CA2410564909 | ALG12 | c.14G= (p.Gly5=)
| |
22 | g.49913752C>G | CA412081848 | ALG12 | c.14G>C (p.Gly5Ala)
| |
22 | g.49913752C>T | CA10300761 | ALG12 | c.14G>A (p.Gly5Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913753C>A | CA412081851 | ALG12 | c.13G>T (p.Gly5Trp)
| |
22 | g.49913753C>G | CA412081853 | ALG12 | c.13G>C (p.Gly5Arg)
| |
22 | g.49913753C>T | CA412081855 | ALG12 | c.13G>A (p.Gly5Arg)
| COSMIC |
22 | g.49913754C>A | CA412081858 | ALG12 | c.12G>T (p.Lys4Asn)
| |
22 | g.49913754C>G | CA412081859 | ALG12 | c.12G>C (p.Lys4Asn)
| gnomAD v4 |
22 | g.49913754C>T | CA515106130 | ALG12 | c.12G>A (p.Lys4=)
| gnomAD v4 |
22 | g.49913754_49913755delinsCT | CA2410564910 | ALG12 | c.11_12delinsAG (p.Lys4=)
| |
22 | g.49913755T>A | CA412081862 | ALG12 | c.11A>T (p.Lys4Met)
| |
22 | g.49913755T>C | CA412081861 | ALG12 | c.11A>G (p.Lys4Arg)
| |
22 | g.49913755T>G | CA412081860 | ALG12 | c.11A>C (p.Lys4Thr)
| |
22 | g.49913757del | CA2410564911 | ALG12 | c.11del (p.Lys4ArgfsTer17)
| dbSNP |
22 | g.49913756T>A | CA412081865 | ALG12 | c.10A>T (p.Lys4Ter)
| |
22 | g.49913756T>C | CA412081867 | ALG12 | c.10A>G (p.Lys4Glu)
| |
22 | g.49913756T>G | CA412081870 | ALG12 | c.10A>C (p.Lys4Gln)
| |
22 | g.49913757T>A | CA515106132 | ALG12 | c.9A>T (p.Gly3=)
| |
22 | g.49913757T>C | CA10300762 | ALG12 | c.9A>G (p.Gly3=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913757T>G | CA515106131 | ALG12 | c.9A>C (p.Gly3=)
| |
22 | g.49913757T= | CA2410564912 | ALG12 | c.9A= (p.Gly3=)
| |
22 | g.49913758C>A | CA412081876 | ALG12 | c.8G>T (p.Gly3Val)
| |
22 | g.49913758C>G | CA412081879 | ALG12 | c.8G>C (p.Gly3Ala)
| |
22 | g.49913758C>T | CA412081885 | ALG12 | c.8G>A (p.Gly3Glu)
| |
22 | g.49913759del | CA2657454934 | ALG12 | c.8del (p.Gly3GlufsTer18)
| gnomAD v4 |
22 | g.49913759C>A | CA412081889 | ALG12 | c.7G>T (p.Gly3Ter)
| |
22 | g.49913759C= | CA2410564913 | ALG12 | c.7G= (p.Gly3=)
| |
22 | g.49913759C>G | CA412081891 | ALG12 | c.7G>C (p.Gly3Arg)
| |
22 | g.49913759C>T | CA412081893 | ALG12 | c.7G>A (p.Gly3Arg)
| dbSNP gnomAD v4 |
22 | g.49913760A>C | CA515106133 | ALG12 | c.6T>G (p.Ala2=)
| |
22 | g.49913760A>G | CA515106134 | ALG12 | c.6T>C (p.Ala2=)
| |
22 | g.49913760A>T | CA515106135 | ALG12 | c.6T>A (p.Ala2=)
| |
22 | g.49913761G>A | CA412081897 | ALG12 | c.5C>T (p.Ala2Val)
| |
22 | g.49913761G>C | CA412081901 | ALG12 | c.5C>G (p.Ala2Gly)
| |
22 | g.49913761G= | CA2410564914 | ALG12 | c.5C= (p.Ala2=)
| |
22 | g.49913761G>T | CA412081906 | ALG12 | c.5C>A (p.Ala2Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913762C>A | CA412081912 | ALG12 | c.4G>T (p.Ala2Ser)
| gnomAD v4 |
22 | g.49913762C= | CA2410564915 | ALG12 | c.4G= (p.Ala2=)
| |
22 | g.49913762C>G | CA412081919 | ALG12 | c.4G>C (p.Ala2Pro)
| |
22 | g.49913762C>T | CA10300763 | ALG12 | c.4G>A (p.Ala2Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913763C>A | CA412081923 | ALG12 | c.3G>T (p.Met1Ile)
| |
22 | g.49913763C>G | CA412081927 | ALG12 | c.3G>C (p.Met1Ile)
| |
22 | g.49913763C>T | CA412081930 | ALG12 | c.3G>A (p.Met1Ile)
| |
22 | g.49913764A>C | CA412081935 | ALG12 | c.2T>G (p.Met1Arg)
| |
22 | g.49913764A>G | CA412081938 | ALG12 | c.2T>C (p.Met1Thr)
| |
22 | g.49913764A>T | CA412081940 | ALG12 | c.2T>A (p.Met1Lys)
| |
22 | g.49913765T>A | CA412081945 | ALG12 | c.1A>T (p.Met1Leu)
| |
22 | g.49913765T>C | CA412081946 | ALG12 | c.1A>G (p.Met1Val)
| |
22 | g.49913765T>G | CA412081949 | ALG12 | c.1A>C (p.Met1Leu)
| |
22 | g.49913767C= | CA2410564916 | ALG12 | c.-2G= (n.-2G=)
| |
22 | g.49913767C>G | CA10300764 | ALG12 | c.-2G>C (n.-2G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913768C>G | CA2657454947 | ALG12 | c.-3G>C (n.-3G>C)
| gnomAD v4 |
22 | g.49913770G>A | CA754008120 | ALG12 | c.-5C>T (n.-5C>T)
| dbSNP gnomAD v4 |
22 | g.49913770G= | CA2410564917 | ALG12 | c.-5C= (n.-5C=)
| |
22 | g.49913772C>A | CA1026586282 | ALG12 | c.-7G>T (n.-7G>T)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913772C= | CA2410564918 | ALG12 | c.-7G= (n.-7G=)
| |
22 | g.49913773T>C | CA2410564920 | ALG12 | c.-8A>G (n.-8A>G)
| dbSNP |
22 | g.49913773T>G | CA2410564921 | ALG12 | c.-8A>C (n.-8A>C)
| dbSNP |
22 | g.49913773T= | CA2410564919 | ALG12 | c.-8A= (n.-8A=)
| |
22 | g.49913775T>A | CA10300765 | ALG12 | c.-10A>T (n.-10A>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913775T= | CA2410564922 | ALG12 | c.-10A= (n.-10A=)
| |
22 | g.49913776C>T | CA2819295135 | ALG12 | c.-11G>A (n.-11G>A)
| |
22 | g.49913777A>G | CA2842486018 | ALG12 | c.-12T>C (n.-12T>C)
| |
22 | g.49913778G>A | CA754008122 | ALG12 | c.-13C>T (n.-13C>T)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913778G= | CA2410564923 | ALG12 | c.-13C= (n.-13C=)
| |
22 | g.49913778_49913788delinsGCTTCACGTAC | CA2410564924 | ALG12 | c.-23_-13delinsGTACGTGAAGC (n.-23_-13delinsGTACGTGAAGC)
| |
22 | g.49913785_49913794del | CA2410564925 | ALG12 | c.-23_-14del (n.-23_-14del)
| dbSNP |
22 | g.49913780T>A | CA657883221 | ALG12 | c.-15A>T (n.-15A>T)
| COSMIC |
22 | g.49913780T>C | CA325433663 | ALG12 | c.-15A>G (n.-15A>G)
| dbSNP |
22 | g.49913780T>G | CA2657454961 | ALG12 | c.-15A>C (n.-15A>C)
| gnomAD v4 |
22 | g.49913780T= | CA2410564926 | ALG12 | c.-15A= (n.-15A=)
| |
22 | g.49913782C= | CA2410564927 | ALG12 | c.-17G= (n.-17G=)
| |
22 | g.49913782C>T | CA325433666 | ALG12 | c.-17G>A (n.-17G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913783A>G | CA2741724290 | ALG12 | c.-18T>C (n.-18T>C)
| |
22 | g.49913784C= | CA2410564928 | ALG12 | c.-19G= (n.-19G=)
| |
22 | g.49913784C>T | CA10300766 | ALG12 | c.-19G>A (n.-19G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913785G>A | CA10300767 | ALG12 | c.-20C>T (n.-20C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913785G= | CA2410564929 | ALG12 | c.-20C= (n.-20C=)
| |
22 | g.49913785G>T | CA2840050396 | ALG12 | c.-20C>A (n.-20C>A)
| |
22 | g.49913787A= | CA2410564930 | ALG12 | c.-22T= (n.-22T=)
| |
22 | g.49913787A>C | CA2410564931 | ALG12 | c.-22T>G (n.-22T>G)
| dbSNP gnomAD v4 |
22 | g.49913787A>T | CA2657454975 | ALG12 | c.-22T>A (n.-22T>A)
| gnomAD v4 |
22 | g.49913788C>A | CA2657454981 | ALG12 | c.-23G>T (n.-23G>T)
| gnomAD v4 |
22 | g.49913789C= | CA2410564932 | ALG12 | c.-24G= (n.-24G=)
| |
22 | g.49913789C>T | CA10300768 | ALG12 | c.-24G>A (n.-24G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.49913791dup | CA2842486019 | ALG12 | c.-25dup (n.-25dup)
| |
22 | g.49913792C>A | CA10300769 | ALG12 | c.-27G>T (n.-27G>T)
| dbSNP ExAC gnomAD v4 |
22 | g.49913792C= | CA2410564933 | ALG12 | c.-27G= (n.-27G=)
| |
22 | g.49913794C>T | CA2657454989 | ALG12 | c.-29G>A (n.-29G>A)
| gnomAD v4 |
22 | g.49913796G= | CA2410564934 | ALG12 | c.-31C= (n.-31C=)
| |
22 | g.49913796G>T | CA10300770 | ALG12 | c.-31C>A (n.-31C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913797G>T | CA2657454992 | ALG12 | c.-32C>A (n.-32C>A)
| gnomAD v4 |