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 |
22 | g.49913691C>A | CA515106077 | ALG12 | c.75G>T (p.Leu25=)
| |
22 | g.49913691C= | CA2410564875 | ALG12 | c.75G= (p.Leu25=)
| |
22 | g.49913691C>G | CA515106076 | ALG12 | c.75G>C (p.Leu25=)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.49913691C>T | CA515106075 | ALG12 | c.75G>A (p.Leu25=)
| |
22 | g.49913692A>C | CA412081466 | ALG12 | c.74T>G (p.Leu25Arg)
| |
22 | g.49913692A>G | CA412081475 | ALG12 | c.74T>C (p.Leu25Pro)
| gnomAD v4 |
22 | g.49913692A>T | CA412081485 | ALG12 | c.74T>A (p.Leu25Gln)
| |
22 | g.49913693G>A | CA515106078 | ALG12 | c.73C>T (p.Leu25=)
| dbSNP gnomAD v2 |
22 | g.49913693G>C | CA412081489 | ALG12 | c.73C>G (p.Leu25Val)
| |
22 | g.49913693G= | CA2410564876 | ALG12 | c.73C= (p.Leu25=)
| |
22 | g.49913693G>T | CA412081490 | ALG12 | c.73C>A (p.Leu25Met)
| |
22 | g.49913694G>A | CA515106079 | ALG12 | c.72C>T (p.His24=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.49913694G>C | CA325433577 | ALG12 | c.72C>G (p.His24Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.49913694G= | CA2410564877 | ALG12 | c.72C= (p.His24=)
| |
22 | g.49913694G>T | CA412081492 | ALG12 | c.72C>A (p.His24Gln)
| |
22 | g.49913695T>A | CA412081495 | ALG12 | c.71A>T (p.His24Leu)
| |
22 | g.49913695T>C | CA412081510 | ALG12 | c.71A>G (p.His24Arg)
| |
22 | g.49913695T>G | CA412081498 | ALG12 | c.71A>C (p.His24Pro)
| |
22 | g.49913696G>A | CA412081515 | ALG12 | c.70C>T (p.His24Tyr)
| gnomAD v4 |
22 | g.49913696G>C | CA412081519 | ALG12 | c.70C>G (p.His24Asp)
| |
22 | g.49913696G>T | CA412081521 | ALG12 | c.70C>A (p.His24Asn)
| |
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)
| |