Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.130452257C>A | CA375223508 | ASS1 | c.29C>A (p.Ala10Asp) c.143C>A (p.Ala48Asp) c.125C>A (p.Ala42Asp) | gnomAD v4 |
9 | g.130452257C>G | CA375223509 | ASS1 | c.29C>G (p.Ala10Gly) c.143C>G (p.Ala48Gly) c.125C>G (p.Ala42Gly) | |
9 | g.130452257C>T | CA375223510 | ASS1 | c.29C>T (p.Ala10Val) c.143C>T (p.Ala48Val) c.125C>T (p.Ala42Val) | |
9 | g.130452258C>A | CA467388137 | ASS1 | c.30C>A (p.Ala10=) c.144C>A (p.Ala48=) c.126C>A (p.Ala42=) | |
9 | g.130452258C>G | CA467388135 | ASS1 | c.30C>G (p.Ala10=) c.144C>G (p.Ala48=) c.126C>G (p.Ala42=) | |
9 | g.130452258C>T | CA467388136 | ASS1 | c.30C>T (p.Ala10=) c.144C>T (p.Ala48=) c.126C>T (p.Ala42=) | |
9 | g.130452259T>A | CA375223511 | ASS1 | c.31T>A (p.Tyr11Asn) c.145T>A (p.Tyr49Asn) c.127T>A (p.Tyr43Asn) | |
9 | g.130452259T>C | CA375223512 | ASS1 | c.31T>C (p.Tyr11His) c.145T>C (p.Tyr49His) c.127T>C (p.Tyr43His) | |
9 | g.130452259T>G | CA375223513 | ASS1 | c.31T>G (p.Tyr11Asp) c.145T>G (p.Tyr49Asp) c.127T>G (p.Tyr43Asp) | |
9 | g.130452260A>C | CA375223516 | ASS1 | c.32A>C (p.Tyr11Ser) c.146A>C (p.Tyr49Ser) c.128A>C (p.Tyr43Ser) | |
9 | g.130452260A>G | CA375223515 | ASS1 | c.32A>G (p.Tyr11Cys) c.146A>G (p.Tyr49Cys) c.128A>G (p.Tyr43Cys) | |
9 | g.130452260A>T | CA375223514 | ASS1 | c.32A>T (p.Tyr11Phe) c.146A>T (p.Tyr49Phe) c.128A>T (p.Tyr43Phe) | |
9 | g.130452261C>A | CA375223517 | ASS1 | c.33C>A (p.Tyr11Ter) c.147C>A (p.Tyr49Ter) c.129C>A (p.Tyr43Ter) | |
9 | g.130452261C= | CA1881244445 | ASS1 | c.33C= (p.Tyr11=) c.147C= (p.Tyr49=) c.129C= (p.Tyr43=) | |
9 | g.130452261C>G | CA375223518 | ASS1 | c.33C>G (p.Tyr11Ter) c.147C>G (p.Tyr49Ter) c.129C>G (p.Tyr43Ter) | gnomAD v4 |
9 | g.130452261C>T | CA5283129 | ASS1 | c.33C>T (p.Tyr11=) c.147C>T (p.Tyr49=) c.129C>T (p.Tyr43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452262A= | CA1881244450 | ASS1 | c.34A= (p.Ser12=) c.148A= (p.Ser50=) c.130A= (p.Ser44=) | |
9 | g.130452262A>C | CA375223519 | ASS1 | c.34A>C (p.Ser12Arg) c.148A>C (p.Ser50Arg) c.130A>C (p.Ser44Arg) | |
9 | g.130452262A>G | CA375223520 | ASS1 | c.34A>G (p.Ser12Gly) c.148A>G (p.Ser50Gly) c.130A>G (p.Ser44Gly) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452262A>T | CA375223521 | ASS1 | c.34A>T (p.Ser12Cys) c.148A>T (p.Ser50Cys) c.130A>T (p.Ser44Cys) | |
9 | g.130452263G>A | CA375223524 | ASS1 | c.35G>A (p.Ser12Asn) c.149G>A (p.Ser50Asn) c.131G>A (p.Ser44Asn) | |
9 | g.130452263G>C | CA375223522 | ASS1 | c.35G>C (p.Ser12Thr) c.149G>C (p.Ser50Thr) c.131G>C (p.Ser44Thr) | |
9 | g.130452263G>T | CA375223523 | ASS1 | c.35G>T (p.Ser12Ile) c.149G>T (p.Ser50Ile) c.131G>T (p.Ser44Ile) | |
9 | g.130452264_130452266dup | CA2692119421 | ASS1 | c.36_38dup (p.Gly13_Gly14insGly) c.150_152dup (p.Gly51_Gly52insGly) c.132_134dup (p.Gly45_Gly46insGly) | gnomAD v4 |
9 | g.130452264T>A | CA375223525 | ASS1 | c.36T>A (p.Ser12Arg) c.150T>A (p.Ser50Arg) c.132T>A (p.Ser44Arg) | |
9 | g.130452264T>C | CA467388141 | ASS1 | c.36T>C (p.Ser12=) c.150T>C (p.Ser50=) c.132T>C (p.Ser44=) | |
9 | g.130452264T>G | CA375223526 | ASS1 | c.36T>G (p.Ser12Arg) c.150T>G (p.Ser50Arg) c.132T>G (p.Ser44Arg) | |
9 | g.130452265G>A | CA375223527 | ASS1 | c.37G>A (p.Gly13Ser) c.151G>A (p.Gly51Ser) c.133G>A (p.Gly45Ser) | |
9 | g.130452265G>C | CA375223528 | ASS1 | c.37G>C (p.Gly13Arg) c.151G>C (p.Gly51Arg) c.133G>C (p.Gly45Arg) | |
9 | g.130452265G>T | CA375223529 | ASS1 | c.37G>T (p.Gly13Cys) c.151G>T (p.Gly51Cys) c.133G>T (p.Gly45Cys) | |
9 | g.130452266G>A | CA375223532 | ASS1 | c.38G>A (p.Gly13Asp) c.152G>A (p.Gly51Asp) c.134G>A (p.Gly45Asp) | |
9 | g.130452266G>C | CA375223530 | ASS1 | c.38G>C (p.Gly13Ala) c.152G>C (p.Gly51Ala) c.134G>C (p.Gly45Ala) | |
9 | g.130452266G>T | CA375223531 | ASS1 | c.38G>T (p.Gly13Val) c.152G>T (p.Gly51Val) c.134G>T (p.Gly45Val) | |
9 | g.130452267C>A | CA467388146 | ASS1 | c.39C>A (p.Gly13=) c.153C>A (p.Gly51=) c.135C>A (p.Gly45=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452267C= | CA1881244453 | ASS1 | c.39C= (p.Gly13=) c.153C= (p.Gly51=) c.135C= (p.Gly45=) | |
9 | g.130452267C>G | CA467388145 | ASS1 | c.39C>G (p.Gly13=) c.153C>G (p.Gly51=) c.135C>G (p.Gly45=) | |
9 | g.130452267C>T | CA5283130 | ASS1 | c.39C>T (p.Gly13=) c.153C>T (p.Gly51=) c.135C>T (p.Gly45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.130452268G>A | CA253829 | ASS1 | c.40G>A (p.Gly14Ser) c.154G>A (p.Gly52Ser) c.136G>A (p.Gly46Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.130452268G>C | CA375223534 | ASS1 | c.40G>C (p.Gly14Arg) c.154G>C (p.Gly52Arg) c.136G>C (p.Gly46Arg) | |
9 | g.130452268G= | CA1881244456 | ASS1 | c.40G= (p.Gly14=) c.154G= (p.Gly52=) c.136G= (p.Gly46=) | |
9 | g.130452268G>T | CA375223535 | ASS1 | c.40G>T (p.Gly14Cys) c.154G>T (p.Gly52Cys) c.136G>T (p.Gly46Cys) | |
9 | g.130452269dup | CA375223533 | ASS1 | c.41dup (p.Leu15ProfsTer16) c.155dup (p.Leu53ProfsTer16) c.137dup (p.Leu47ProfsTer16) | dbSNP |
9 | g.130452269G>A | CA375223536 | ASS1 | c.41G>A (p.Gly14Asp) c.155G>A (p.Gly52Asp) c.137G>A (p.Gly46Asp) | dbSNP |
9 | g.130452269G>C | CA375223537 | ASS1 | c.41G>C (p.Gly14Ala) c.155G>C (p.Gly52Ala) c.137G>C (p.Gly46Ala) | |
9 | g.130452269G= | CA1881244458 | ASS1 | c.41G= (p.Gly14=) c.155G= (p.Gly52=) c.137G= (p.Gly46=) | |
9 | g.130452269G>T | CA375223538 | ASS1 | c.41G>T (p.Gly14Val) c.155G>T (p.Gly52Val) c.137G>T (p.Gly46Val) | |
9 | g.130452270C>A | CA467388150 | ASS1 | c.42C>A (p.Gly14=) c.156C>A (p.Gly52=) c.138C>A (p.Gly46=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452270C= | CA1881244460 | ASS1 | c.42C= (p.Gly14=) c.156C= (p.Gly52=) c.138C= (p.Gly46=) | |
9 | g.130452270C>G | CA467388152 | ASS1 | c.42C>G (p.Gly14=) c.156C>G (p.Gly52=) c.138C>G (p.Gly46=) | ClinVar |
9 | g.130452270C>T | CA467388153 | ASS1 | c.42C>T (p.Gly14=) c.156C>T (p.Gly52=) c.138C>T (p.Gly46=) | |
9 | g.130452271del | CA2692119449 | ASS1 | c.43del (p.Leu15TrpfsTer10) c.157del (p.Leu53TrpfsTer10) c.139del (p.Leu47TrpfsTer10) | gnomAD v4 |
9 | g.130452271C>A | CA375223539 | ASS1 | c.43C>A (p.Leu15Met) c.157C>A (p.Leu53Met) c.139C>A (p.Leu47Met) | |
9 | g.130452271C= | CA1881244464 | ASS1 | c.43C= (p.Leu15=) c.157C= (p.Leu53=) c.139C= (p.Leu47=) | |
9 | g.130452271C>G | CA375223540 | ASS1 | c.43C>G (p.Leu15Val) c.157C>G (p.Leu53Val) c.139C>G (p.Leu47Val) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452271C>T | CA467388154 | ASS1 | c.43C>T (p.Leu15=) c.157C>T (p.Leu53=) c.139C>T (p.Leu47=) | |
9 | g.130452272T>A | CA375223541 | ASS1 | c.44T>A (p.Leu15Gln) c.158T>A (p.Leu53Gln) c.140T>A (p.Leu47Gln) | |
9 | g.130452272T>C | CA375223542 | ASS1 | c.44T>C (p.Leu15Pro) c.158T>C (p.Leu53Pro) c.140T>C (p.Leu47Pro) | gnomAD v4 |
9 | g.130452272T>G | CA375223543 | ASS1 | c.44T>G (p.Leu15Arg) c.158T>G (p.Leu53Arg) c.140T>G (p.Leu47Arg) | |
9 | g.130452273G>A | CA467388155 | ASS1 | c.45G>A (p.Leu15=) c.159G>A (p.Leu53=) c.141G>A (p.Leu47=) | |
9 | g.130452273G>C | CA467388156 | ASS1 | c.45G>C (p.Leu15=) c.159G>C (p.Leu53=) c.141G>C (p.Leu47=) | |
9 | g.130452273G>T | CA467388157 | ASS1 | c.45G>T (p.Leu15=) c.159G>T (p.Leu53=) c.141G>T (p.Leu47=) | |
9 | g.130452274G>A | CA375223544 | ASS1 | c.46G>A (p.Asp16Asn) c.160G>A (p.Asp54Asn) c.142G>A (p.Asp48Asn) | |
9 | g.130452274G>C | CA375223546 | ASS1 | c.46G>C (p.Asp16His) c.160G>C (p.Asp54His) c.142G>C (p.Asp48His) | dbSNP gnomAD v4 |
9 | g.130452274G= | CA1881244470 | ASS1 | c.46G= (p.Asp16=) c.160G= (p.Asp54=) c.142G= (p.Asp48=) | |
9 | g.130452274G>T | CA375223545 | ASS1 | c.46G>T (p.Asp16Tyr) c.160G>T (p.Asp54Tyr) c.142G>T (p.Asp48Tyr) | COSMIC |
9 | g.130452275A= | CA1881244474 | ASS1 | c.47A= (p.Asp16=) c.161A= (p.Asp54=) c.143A= (p.Asp48=) | |
9 | g.130452275A>C | CA375223547 | ASS1 | c.47A>C (p.Asp16Ala) c.161A>C (p.Asp54Ala) c.143A>C (p.Asp48Ala) | gnomAD v4 |
9 | g.130452275A>G | CA375223548 | ASS1 | c.47A>G (p.Asp16Gly) c.161A>G (p.Asp54Gly) c.143A>G (p.Asp48Gly) | dbSNP |
9 | g.130452275A>T | CA375223549 | ASS1 | c.47A>T (p.Asp16Val) c.161A>T (p.Asp54Val) c.143A>T (p.Asp48Val) | |
9 | g.130452276C>A | CA375223550 | ASS1 | c.48C>A (p.Asp16Glu) c.162C>A (p.Asp54Glu) c.144C>A (p.Asp48Glu) | |
9 | g.130452276C>G | CA375223551 | ASS1 | c.48C>G (p.Asp16Glu) c.162C>G (p.Asp54Glu) c.144C>G (p.Asp48Glu) | |
9 | g.130452276C>T | CA467388159 | ASS1 | c.48C>T (p.Asp16=) c.162C>T (p.Asp54=) c.144C>T (p.Asp48=) | |
9 | g.130452277A= | CA1881244476 | ASS1 | c.49A= (p.Thr17=) c.163A= (p.Thr55=) c.145A= (p.Thr49=) | |
9 | g.130452277A>C | CA375223552 | ASS1 | c.49A>C (p.Thr17Pro) c.163A>C (p.Thr55Pro) c.145A>C (p.Thr49Pro) | |
9 | g.130452277A>G | CA375223553 | ASS1 | c.49A>G (p.Thr17Ala) c.163A>G (p.Thr55Ala) c.145A>G (p.Thr49Ala) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452277A>T | CA375223554 | ASS1 | c.49A>T (p.Thr17Ser) c.163A>T (p.Thr55Ser) c.145A>T (p.Thr49Ser) | |
9 | g.130452278C>A | CA375223555 | ASS1 | c.50C>A (p.Thr17Asn) c.164C>A (p.Thr55Asn) c.146C>A (p.Thr49Asn) | gnomAD v4 |
9 | g.130452278C>G | CA375223556 | ASS1 | c.50C>G (p.Thr17Ser) c.164C>G (p.Thr55Ser) c.146C>G (p.Thr49Ser) | |
9 | g.130452278C>T | CA375223557 | ASS1 | c.50C>T (p.Thr17Ile) c.164C>T (p.Thr55Ile) c.146C>T (p.Thr49Ile) | gnomAD v4 |
9 | g.130452279C>A | CA467388163 | ASS1 | c.51C>A (p.Thr17=) c.165C>A (p.Thr55=) c.147C>A (p.Thr49=) | |
9 | g.130452279C= | CA1881244478 | ASS1 | c.51C= (p.Thr17=) c.165C= (p.Thr55=) c.147C= (p.Thr49=) | |
9 | g.130452279C>G | CA467388165 | ASS1 | c.51C>G (p.Thr17=) c.165C>G (p.Thr55=) c.147C>G (p.Thr49=) | gnomAD v4 |
9 | g.130452279C>T | CA200603532 | ASS1 | c.51C>T (p.Thr17=) c.165C>T (p.Thr55=) c.147C>T (p.Thr49=) | ClinVar dbSNP gnomAD v4 |
9 | g.130452280T>A | CA375223560 | ASS1 | c.52T>A (p.Ser18Thr) c.166T>A (p.Ser56Thr) c.148T>A (p.Ser50Thr) | |
9 | g.130452280T>C | CA375223559 | ASS1 | c.52T>C (p.Ser18Pro) c.166T>C (p.Ser56Pro) c.148T>C (p.Ser50Pro) | |
9 | g.130452280T>G | CA375223558 | ASS1 | c.52T>G (p.Ser18Ala) c.166T>G (p.Ser56Ala) c.148T>G (p.Ser50Ala) | |
9 | g.130452281C>A | CA375223561 | ASS1 | c.53C>A (p.Ser18Ter) c.167C>A (p.Ser56Ter) c.149C>A (p.Ser50Ter) | gnomAD v4 |
9 | g.130452281C= | CA1881244483 | ASS1 | c.53C= (p.Ser18=) c.167C= (p.Ser56=) c.149C= (p.Ser50=) | |
9 | g.130452281C>G | CA375223562 | ASS1 | c.53C>G (p.Ser18Trp) c.167C>G (p.Ser56Trp) c.149C>G (p.Ser50Trp) | gnomAD v4 |
9 | g.130452281C>T | CA253836 | ASS1 | c.53C>T (p.Ser18Leu) c.167C>T (p.Ser56Leu) c.149C>T (p.Ser50Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452282G>A | CA5283131 | ASS1 | c.54G>A (p.Ser18=) c.168G>A (p.Ser56=) c.150G>A (p.Ser50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452282G>C | CA467388168 | ASS1 | c.54G>C (p.Ser18=) c.168G>C (p.Ser56=) c.150G>C (p.Ser50=) | |
9 | g.130452282G= | CA1881244491 | ASS1 | c.54G= (p.Ser18=) c.168G= (p.Ser56=) c.150G= (p.Ser50=) | |
9 | g.130452282G>T | CA467388166 | ASS1 | c.54G>T (p.Ser18=) c.168G>T (p.Ser56=) c.150G>T (p.Ser50=) | gnomAD v4 |
9 | g.130452283T>A | CA375223563 | ASS1 | c.55T>A (p.Cys19Ser) c.169T>A (p.Cys57Ser) c.151T>A (p.Cys51Ser) | |
9 | g.130452283T>C | CA375223564 | ASS1 | c.55T>C (p.Cys19Arg) c.169T>C (p.Cys57Arg) c.151T>C (p.Cys51Arg) | |
9 | g.130452283T>G | CA375223565 | ASS1 | c.55T>G (p.Cys19Gly) c.169T>G (p.Cys57Gly) c.151T>G (p.Cys51Gly) | |
9 | g.130452283_130452290dup | CA2692119486 | ASS1 | c.55_62dup (p.Val22AlafsTer6) c.169_176dup (p.Val60AlafsTer6) c.151_158dup (p.Val54AlafsTer6) | gnomAD v4 |
9 | g.130452284G>A | CA375223566 | ASS1 | c.56G>A (p.Cys19Tyr) c.170G>A (p.Cys57Tyr) c.152G>A (p.Cys51Tyr) | |
9 | g.130452284G>C | CA375223567 | ASS1 | c.56G>C (p.Cys19Ser) c.170G>C (p.Cys57Ser) c.152G>C (p.Cys51Ser) | |
9 | g.130452284G>T | CA375223568 | ASS1 | c.56G>T (p.Cys19Phe) c.170G>T (p.Cys57Phe) c.152G>T (p.Cys51Phe) | |
9 | g.130452285C>A | CA375223569 | ASS1 | c.57C>A (p.Cys19Ter) c.171C>A (p.Cys57Ter) c.153C>A (p.Cys51Ter) | ClinVar gnomAD v4 |
9 | g.130452285C>G | CA375223570 | ASS1 | c.57C>G (p.Cys19Trp) c.171C>G (p.Cys57Trp) c.153C>G (p.Cys51Trp) | |
9 | g.130452285C>T | CA467388170 | ASS1 | c.57C>T (p.Cys19=) c.171C>T (p.Cys57=) c.153C>T (p.Cys51=) | |
9 | g.130452286A>C | CA375223573 | ASS1 | c.58A>C (p.Ile20Leu) c.172A>C (p.Ile58Leu) c.154A>C (p.Ile52Leu) | gnomAD v4 |
9 | g.130452286A>G | CA375223572 | ASS1 | c.58A>G (p.Ile20Val) c.172A>G (p.Ile58Val) c.154A>G (p.Ile52Val) | |
9 | g.130452286A>T | CA375223571 | ASS1 | c.58A>T (p.Ile20Phe) c.172A>T (p.Ile58Phe) c.154A>T (p.Ile52Phe) | |
9 | g.130452287T>A | CA375223574 | ASS1 | c.59T>A (p.Ile20Asn) c.173T>A (p.Ile58Asn) c.155T>A (p.Ile52Asn) | |
9 | g.130452287T>C | CA375223576 | ASS1 | c.59T>C (p.Ile20Thr) c.173T>C (p.Ile58Thr) c.155T>C (p.Ile52Thr) | |
9 | g.130452287T>G | CA375223575 | ASS1 | c.59T>G (p.Ile20Ser) c.173T>G (p.Ile58Ser) c.155T>G (p.Ile52Ser) | |
9 | g.130452288C>A | CA467388174 | ASS1 | c.60C>A (p.Ile20=) c.174C>A (p.Ile58=) c.156C>A (p.Ile52=) | gnomAD v4 |
9 | g.130452288C>G | CA375223577 | ASS1 | c.60C>G (p.Ile20Met) c.174C>G (p.Ile58Met) c.156C>G (p.Ile52Met) | |
9 | g.130452288C>T | CA467388175 | ASS1 | c.60C>T (p.Ile20=) c.174C>T (p.Ile58=) c.156C>T (p.Ile52=) | ClinVar |
9 | g.130452289C>A | CA375223579 | ASS1 | c.61C>A (p.Leu21Ile) c.175C>A (p.Leu59Ile) c.157C>A (p.Leu53Ile) | |
9 | g.130452289C= | CA1881244495 | ASS1 | c.61C= (p.Leu21=) c.175C= (p.Leu59=) c.157C= (p.Leu53=) | |
9 | g.130452289C>G | CA375223578 | ASS1 | c.61C>G (p.Leu21Val) c.175C>G (p.Leu59Val) c.157C>G (p.Leu53Val) | |
9 | g.130452289C>T | CA375223580 | ASS1 | c.61C>T (p.Leu21Phe) c.175C>T (p.Leu59Phe) c.157C>T (p.Leu53Phe) | dbSNP gnomAD v4 |
9 | g.130452290T>A | CA375223581 | ASS1 | c.62T>A (p.Leu21His) c.176T>A (p.Leu59His) c.158T>A (p.Leu53His) | |
9 | g.130452290T>C | CA375223583 | ASS1 | c.62T>C (p.Leu21Pro) c.176T>C (p.Leu59Pro) c.158T>C (p.Leu53Pro) | |
9 | g.130452290T>G | CA375223582 | ASS1 | c.62T>G (p.Leu21Arg) c.176T>G (p.Leu59Arg) c.158T>G (p.Leu53Arg) | |
9 | g.130452291C>A | CA467388176 | ASS1 | c.63C>A (p.Leu21=) c.177C>A (p.Leu59=) c.159C>A (p.Leu53=) | ClinVar dbSNP |
9 | g.130452291C= | CA1881244501 | ASS1 | c.63C= (p.Leu21=) c.177C= (p.Leu59=) c.159C= (p.Leu53=) | |
9 | g.130452291C>G | CA5283132 | ASS1 | c.63C>G (p.Leu21=) c.177C>G (p.Leu59=) c.159C>G (p.Leu53=) | dbSNP ExAC gnomAD v2 |
9 | g.130452291C>T | CA16605381 | ASS1 | c.63C>T (p.Leu21=) c.177C>T (p.Leu59=) c.159C>T (p.Leu53=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452292G>A | CA5283134 | ASS1 | c.64G>A (p.Val22Met) c.178G>A (p.Val60Met) c.160G>A (p.Val54Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452292G>C | CA5283135 | ASS1 | c.64G>C (p.Val22Leu) c.178G>C (p.Val60Leu) c.160G>C (p.Val54Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130452292G= | CA1881244512 | ASS1 | c.64G= (p.Val22=) c.178G= (p.Val60=) c.160G= (p.Val54=) | |
9 | g.130452292G>T | CA5283133 | ASS1 | c.64G>T (p.Val22Leu) c.178G>T (p.Val60Leu) c.160G>T (p.Val54Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.130452293T>A | CA375223584 | ASS1 | c.65T>A (p.Val22Glu) c.179T>A (p.Val60Glu) c.161T>A (p.Val54Glu) | |
9 | g.130452293T>C | CA375223585 | ASS1 | c.65T>C (p.Val22Ala) c.179T>C (p.Val60Ala) c.161T>C (p.Val54Ala) | |
9 | g.130452293T>G | CA200603554 | ASS1 | c.65T>G (p.Val22Gly) c.179T>G (p.Val60Gly) c.161T>G (p.Val54Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.130452293T= | CA1881244518 | ASS1 | c.65T= (p.Val22=) c.179T= (p.Val60=) c.161T= (p.Val54=) | |
9 | g.130452294del | CA2580079790 | ASS1 | c.66del (p.Trp23GlyfsTer2) c.180del (p.Trp61GlyfsTer2) c.162del (p.Trp55GlyfsTer2) | ClinVar |
9 | g.130452294G>A | CA5283136 | ASS1 | c.66G>A (p.Val22=) c.180G>A (p.Val60=) c.162G>A (p.Val54=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452294G>C | CA467388178 | ASS1 | c.66G>C (p.Val22=) c.180G>C (p.Val60=) c.162G>C (p.Val54=) | |
9 | g.130452294G= | CA1881244520 | ASS1 | c.66G= (p.Val22=) c.180G= (p.Val60=) c.162G= (p.Val54=) | |
9 | g.130452294G>T | CA467388180 | ASS1 | c.66G>T (p.Val22=) c.180G>T (p.Val60=) c.162G>T (p.Val54=) | |
9 | g.130452295T>A | CA375223586 | ASS1 | c.67T>A (p.Trp23Arg) c.181T>A (p.Trp61Arg) c.163T>A (p.Trp55Arg) | |
9 | g.130452295T>C | CA375223587 | ASS1 | c.67T>C (p.Trp23Arg) c.181T>C (p.Trp61Arg) c.163T>C (p.Trp55Arg) | |
9 | g.130452295T>G | CA375223588 | ASS1 | c.67T>G (p.Trp23Gly) c.181T>G (p.Trp61Gly) c.163T>G (p.Trp55Gly) | |
9 | g.130452296G>A | CA375223589 | ASS1 | c.68G>A (p.Trp23Ter) c.182G>A (p.Trp61Ter) c.164G>A (p.Trp55Ter) | |
9 | g.130452296G>C | CA375223590 | ASS1 | c.68G>C (p.Trp23Ser) c.182G>C (p.Trp61Ser) c.164G>C (p.Trp55Ser) | |
9 | g.130452296G>T | CA375223591 | ASS1 | c.68G>T (p.Trp23Leu) c.182G>T (p.Trp61Leu) c.164G>T (p.Trp55Leu) | |
9 | g.130452297G>A | CA375223594 | ASS1 | c.69G>A (p.Trp23Ter) c.183G>A (p.Trp61Ter) c.165G>A (p.Trp55Ter) | ClinVar dbSNP |
9 | g.130452297G>C | CA375223592 | ASS1 | c.69G>C (p.Trp23Cys) c.183G>C (p.Trp61Cys) c.165G>C (p.Trp55Cys) | |
9 | g.130452297G= | CA1881244522 | ASS1 | c.69G= (p.Trp23=) c.183G= (p.Trp61=) c.165G= (p.Trp55=) | |
9 | g.130452297G>T | CA375223593 | ASS1 | c.69G>T (p.Trp23Cys) c.183G>T (p.Trp61Cys) c.165G>T (p.Trp55Cys) | dbSNP |
9 | g.130452298C>A | CA375223595 | ASS1 | c.70C>A (p.Leu24Met) c.184C>A (p.Leu62Met) c.166C>A (p.Leu56Met) | |
9 | g.130452298C>G | CA375223596 | ASS1 | c.70C>G (p.Leu24Val) c.184C>G (p.Leu62Val) c.166C>G (p.Leu56Val) | |
9 | g.130452298C>T | CA467388181 | ASS1 | c.70C>T (p.Leu24=) c.184C>T (p.Leu62=) c.166C>T (p.Leu56=) | |
9 | g.130452299T>A | CA375223597 | ASS1 | c.71T>A (p.Leu24Gln) c.185T>A (p.Leu62Gln) c.167T>A (p.Leu56Gln) | |
9 | g.130452299T>C | CA375223598 | ASS1 | c.71T>C (p.Leu24Pro) c.185T>C (p.Leu62Pro) c.167T>C (p.Leu56Pro) | |
9 | g.130452299T>G | CA375223599 | ASS1 | c.71T>G (p.Leu24Arg) c.185T>G (p.Leu62Arg) c.167T>G (p.Leu56Arg) | gnomAD v4 |
9 | g.130452300G>A | CA467388185 | ASS1 | c.72G>A (p.Leu24=) c.186G>A (p.Leu62=) c.168G>A (p.Leu56=) | |
9 | g.130452300G>C | CA467388186 | ASS1 | c.72G>C (p.Leu24=) c.186G>C (p.Leu62=) c.168G>C (p.Leu56=) | |
9 | g.130452300G>T | CA467388187 | ASS1 | c.72G>T (p.Leu24=) c.186G>T (p.Leu62=) c.168G>T (p.Leu56=) | |
9 | g.130452301A>C | CA375223600 | ASS1 | c.73A>C (p.Lys25Gln) c.187A>C (p.Lys63Gln) c.169A>C (p.Lys57Gln) | |
9 | g.130452301A>G | CA375223601 | ASS1 | c.73A>G (p.Lys25Glu) c.187A>G (p.Lys63Glu) c.169A>G (p.Lys57Glu) | |
9 | g.130452301A>T | CA375223602 | ASS1 | c.73A>T (p.Lys25Ter) c.187A>T (p.Lys63Ter) c.169A>T (p.Lys57Ter) | |
9 | g.130452302A>C | CA375223603 | ASS1 | c.74A>C (p.Lys25Thr) c.188A>C (p.Lys63Thr) c.170A>C (p.Lys57Thr) | |
9 | g.130452302A>G | CA375223604 | ASS1 | c.74A>G (p.Lys25Arg) c.188A>G (p.Lys63Arg) c.170A>G (p.Lys57Arg) | |
9 | g.130452302A>T | CA375223605 | ASS1 | c.74A>T (p.Lys25Met) c.188A>T (p.Lys63Met) c.170A>T (p.Lys57Met) | |
9 | g.130452303G>A | CA467388191 | ASS1 | c.75G>A (p.Lys25=) c.189G>A (p.Lys63=) c.171G>A (p.Lys57=) | dbSNP gnomAD v4 |
9 | g.130452303G>C | CA375223607 | ASS1 | c.75G>C (p.Lys25Asn) c.189G>C (p.Lys63Asn) c.171G>C (p.Lys57Asn) | |
9 | g.130452303G= | CA1881244524 | ASS1 | c.75G= (p.Lys25=) c.189G= (p.Lys63=) c.171G= (p.Lys57=) | |
9 | g.130452303G>T | CA375223606 | ASS1 | c.75G>T (p.Lys25Asn) c.189G>T (p.Lys63Asn) c.171G>T (p.Lys57Asn) | |
9 | g.130452304G>A | CA5283137 | ASS1 | c.76G>A (p.Glu26Lys) c.190G>A (p.Glu64Lys) c.172G>A (p.Glu58Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130452304G>C | CA375223608 | ASS1 | c.76G>C (p.Glu26Gln) c.190G>C (p.Glu64Gln) c.172G>C (p.Glu58Gln) | |
9 | g.130452304G= | CA1881244526 | ASS1 | c.76G= (p.Glu26=) c.190G= (p.Glu64=) c.172G= (p.Glu58=) | |
9 | g.130452304G>T | CA375223609 | ASS1 | c.76G>T (p.Glu26Ter) c.190G>T (p.Glu64Ter) c.172G>T (p.Glu58Ter) | |
9 | g.130452305A>C | CA375223610 | ASS1 | c.77A>C (p.Glu26Ala) c.191A>C (p.Glu64Ala) c.173A>C (p.Glu58Ala) | |
9 | g.130452305A>G | CA375223611 | ASS1 | c.77A>G (p.Glu26Gly) c.191A>G (p.Glu64Gly) c.173A>G (p.Glu58Gly) | |
9 | g.130452305A>T | CA375223612 | ASS1 | c.77A>T (p.Glu26Val) c.191A>T (p.Glu64Val) c.173A>T (p.Glu58Val) | |
9 | g.130452306A>C | CA375223613 | ASS1 | c.78A>C (p.Glu26Asp) c.192A>C (p.Glu64Asp) c.174A>C (p.Glu58Asp) | |
9 | g.130452306A>G | CA467388193 | ASS1 | c.78A>G (p.Glu26=) c.192A>G (p.Glu64=) c.174A>G (p.Glu58=) | |
9 | g.130452306A>T | CA375223614 | ASS1 | c.78A>T (p.Glu26Asp) c.192A>T (p.Glu64Asp) c.174A>T (p.Glu58Asp) | |
9 | g.130452307C>A | CA5283138 | ASS1 | c.79C>A (p.Gln27Lys) c.193C>A (p.Gln65Lys) c.175C>A (p.Gln59Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452307C= | CA1881244529 | ASS1 | c.79C= (p.Gln27=) c.193C= (p.Gln65=) c.175C= (p.Gln59=) | |
9 | g.130452307C>G | CA375223615 | ASS1 | c.79C>G (p.Gln27Glu) c.193C>G (p.Gln65Glu) c.175C>G (p.Gln59Glu) | |
9 | g.130452307C>T | CA375223616 | ASS1 | c.79C>T (p.Gln27Ter) c.193C>T (p.Gln65Ter) c.175C>T (p.Gln59Ter) | gnomAD v4 |
9 | g.130452308A>C | CA375223617 | ASS1 | c.80A>C (p.Gln27Pro) c.194A>C (p.Gln65Pro) c.176A>C (p.Gln59Pro) | |
9 | g.130452308A>G | CA375223618 | ASS1 | c.80A>G (p.Gln27Arg) c.194A>G (p.Gln65Arg) c.176A>G (p.Gln59Arg) | |
9 | g.130452308A>T | CA375223619 | ASS1 | c.80A>T (p.Gln27Leu) c.194A>T (p.Gln65Leu) c.176A>T (p.Gln59Leu) | |
9 | g.130452309A>C | CA375223620 | ASS1 | c.81A>C (p.Gln27His) c.195A>C (p.Gln65His) c.177A>C (p.Gln59His) | |
9 | g.130452309A>G | CA467388195 | ASS1 | c.81A>G (p.Gln27=) c.195A>G (p.Gln65=) c.177A>G (p.Gln59=) | gnomAD v3 gnomAD v4 |
9 | g.130452309A>T | CA375223621 | ASS1 | c.81A>T (p.Gln27His) c.195A>T (p.Gln65His) c.177A>T (p.Gln59His) | |
9 | g.130452310G>A | CA375223622 | ASS1 | c.82G>A (p.Gly28Ser) c.196G>A (p.Gly66Ser) c.178G>A (p.Gly60Ser) | |
9 | g.130452310G>C | CA375223623 | ASS1 | c.82G>C (p.Gly28Arg) c.196G>C (p.Gly66Arg) c.178G>C (p.Gly60Arg) | |
9 | g.130452310G>T | CA375223624 | ASS1 | c.82G>T (p.Gly28Cys) c.196G>T (p.Gly66Cys) c.178G>T (p.Gly60Cys) | |
9 | g.130452311G>A | CA375223625 | ASS1 | c.83G>A (p.Gly28Asp) c.197G>A (p.Gly66Asp) c.179G>A (p.Gly60Asp) | |
9 | g.130452311G>C | CA375223626 | ASS1 | c.83G>C (p.Gly28Ala) c.197G>C (p.Gly66Ala) c.179G>C (p.Gly60Ala) | |
9 | g.130452311G>T | CA375223627 | ASS1 | c.83G>T (p.Gly28Val) c.197G>T (p.Gly66Val) c.179G>T (p.Gly60Val) | |
9 | g.130452312C>A | CA467388196 | ASS1 | c.84C>A (p.Gly28=) c.198C>A (p.Gly66=) c.180C>A (p.Gly60=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452312C= | CA1881244535 | ASS1 | c.84C= (p.Gly28=) c.198C= (p.Gly66=) c.180C= (p.Gly60=) | |
9 | g.130452312C>G | CA467388199 | ASS1 | c.84C>G (p.Gly28=) c.198C>G (p.Gly66=) c.180C>G (p.Gly60=) | |
9 | g.130452312C>T | CA467388197 | ASS1 | c.84C>T (p.Gly28=) c.198C>T (p.Gly66=) c.180C>T (p.Gly60=) | |
9 | g.130452313T>A | CA375223628 | ASS1 | c.85T>A (p.Tyr29Asn) c.199T>A (p.Tyr67Asn) c.181T>A (p.Tyr61Asn) | |
9 | g.130452313T>C | CA375223629 | ASS1 | c.85T>C (p.Tyr29His) c.199T>C (p.Tyr67His) c.181T>C (p.Tyr61His) | gnomAD v4 |
9 | g.130452313T>G | CA375223630 | ASS1 | c.85T>G (p.Tyr29Asp) c.199T>G (p.Tyr67Asp) c.181T>G (p.Tyr61Asp) | |
9 | g.130452314A= | CA1881244538 | ASS1 | c.86A= (p.Tyr29=) c.200A= (p.Tyr67=) c.182A= (p.Tyr61=) | |
9 | g.130452314A>C | CA375223631 | ASS1 | c.86A>C (p.Tyr29Ser) c.200A>C (p.Tyr67Ser) c.182A>C (p.Tyr61Ser) | |
9 | g.130452314A>G | CA375223632 | ASS1 | c.86A>G (p.Tyr29Cys) c.200A>G (p.Tyr67Cys) c.182A>G (p.Tyr61Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452314A>T | CA375223633 | ASS1 | c.86A>T (p.Tyr29Phe) c.200A>T (p.Tyr67Phe) c.182A>T (p.Tyr61Phe) | |
9 | g.130452315T>A | CA375223634 | ASS1 | c.87T>A (p.Tyr29Ter) c.201T>A (p.Tyr67Ter) c.183T>A (p.Tyr61Ter) | |
9 | g.130452315T>C | CA467388200 | ASS1 | c.87T>C (p.Tyr29=) c.201T>C (p.Tyr67=) c.183T>C (p.Tyr61=) | gnomAD v4 |
9 | g.130452315T>G | CA375223635 | ASS1 | c.87T>G (p.Tyr29Ter) c.201T>G (p.Tyr67Ter) c.183T>G (p.Tyr61Ter) | |
9 | g.130452316G>A | CA5283139 | ASS1 | c.88G>A (p.Asp30Asn) c.202G>A (p.Asp68Asn) c.184G>A (p.Asp62Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
9 | g.130452316G>C | CA375223637 | ASS1 | c.88G>C (p.Asp30His) c.202G>C (p.Asp68His) c.184G>C (p.Asp62His) | |
9 | g.130452316G= | CA1881244541 | ASS1 | c.88G= (p.Asp30=) c.202G= (p.Asp68=) c.184G= (p.Asp62=) | |
9 | g.130452316G>T | CA375223636 | ASS1 | c.88G>T (p.Asp30Tyr) c.202G>T (p.Asp68Tyr) c.184G>T (p.Asp62Tyr) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452317A>C | CA375223638 | ASS1 | c.89A>C (p.Asp30Ala) c.203A>C (p.Asp68Ala) c.185A>C (p.Asp62Ala) | |
9 | g.130452317A>G | CA375223639 | ASS1 | c.89A>G (p.Asp30Gly) c.203A>G (p.Asp68Gly) c.185A>G (p.Asp62Gly) | |
9 | g.130452317A>T | CA375223640 | ASS1 | c.89A>T (p.Asp30Val) c.203A>T (p.Asp68Val) c.185A>T (p.Asp62Val) | |
9 | g.130452318C>A | CA375223641 | ASS1 | c.90C>A (p.Asp30Glu) c.204C>A (p.Asp68Glu) c.186C>A (p.Asp62Glu) | gnomAD v4 |
9 | g.130452318C= | CA1881244544 | ASS1 | c.90C= (p.Asp30=) c.204C= (p.Asp68=) c.186C= (p.Asp62=) | |
9 | g.130452318C>G | CA375223642 | ASS1 | c.90C>G (p.Asp30Glu) c.204C>G (p.Asp68Glu) c.186C>G (p.Asp62Glu) | |
9 | g.130452318C>T | CA200603568 | ASS1 | c.90C>T (p.Asp30=) c.204C>T (p.Asp68=) c.186C>T (p.Asp62=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452319G>A | CA5283140 | ASS1 | c.91G>A (p.Val31Ile) c.205G>A (p.Val69Ile) c.187G>A (p.Val63Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452319G>C | CA375223643 | ASS1 | c.91G>C (p.Val31Leu) c.205G>C (p.Val69Leu) c.187G>C (p.Val63Leu) | |
9 | g.130452319G= | CA1881244548 | ASS1 | c.91G= (p.Val31=) c.205G= (p.Val69=) c.187G= (p.Val63=) | |
9 | g.130452319G>T | CA375223644 | ASS1 | c.91G>T (p.Val31Phe) c.205G>T (p.Val69Phe) c.187G>T (p.Val63Phe) | gnomAD v4 |
9 | g.130452320T>A | CA375223645 | ASS1 | c.92T>A (p.Val31Asp) c.206T>A (p.Val69Asp) c.188T>A (p.Val63Asp) | |
9 | g.130452320T>C | CA375223646 | ASS1 | c.92T>C (p.Val31Ala) c.206T>C (p.Val69Ala) c.188T>C (p.Val63Ala) | |
9 | g.130452320T>G | CA375223647 | ASS1 | c.92T>G (p.Val31Gly) c.206T>G (p.Val69Gly) c.188T>G (p.Val63Gly) | |
9 | g.130452321C>A | CA467388204 | ASS1 | c.93C>A (p.Val31=) c.207C>A (p.Val69=) c.189C>A (p.Val63=) | |
9 | g.130452321C>G | CA467388202 | ASS1 | c.93C>G (p.Val31=) c.207C>G (p.Val69=) c.189C>G (p.Val63=) | |
9 | g.130452321C>T | CA467388203 | ASS1 | c.93C>T (p.Val31=) c.207C>T (p.Val69=) c.189C>T (p.Val63=) | gnomAD v4 |
9 | g.130452322A= | CA1881244550 | ASS1 | c.94A= (p.Ile32=) c.208A= (p.Ile70=) c.190A= (p.Ile64=) | |
9 | g.130452322A>C | CA375223649 | ASS1 | c.94A>C (p.Ile32Leu) c.208A>C (p.Ile70Leu) c.190A>C (p.Ile64Leu) | |
9 | g.130452322A>G | CA200603573 | ASS1 | c.94A>G (p.Ile32Val) c.208A>G (p.Ile70Val) c.190A>G (p.Ile64Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452322A>T | CA375223648 | ASS1 | c.94A>T (p.Ile32Phe) c.208A>T (p.Ile70Phe) c.190A>T (p.Ile64Phe) | |
9 | g.130452323_130452337del | CA2580079791 | ASS1 | c.95_105+4del c.209_219+4del c.191_201+4del | ClinVar |
9 | g.130452323T>A | CA375223650 | ASS1 | c.95T>A (p.Ile32Asn) c.209T>A (p.Ile70Asn) c.191T>A (p.Ile64Asn) | |
9 | g.130452323T>C | CA375223651 | ASS1 | c.95T>C (p.Ile32Thr) c.209T>C (p.Ile70Thr) c.191T>C (p.Ile64Thr) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452323T>G | CA375223652 | ASS1 | c.95T>G (p.Ile32Ser) c.209T>G (p.Ile70Ser) c.191T>G (p.Ile64Ser) | |
9 | g.130452323T= | CA1881244554 | ASS1 | c.95T= (p.Ile32=) c.209T= (p.Ile70=) c.191T= (p.Ile64=) | |
9 | g.130452324T>A | CA467388205 | ASS1 | c.96T>A (p.Ile32=) c.210T>A (p.Ile70=) c.192T>A (p.Ile64=) | gnomAD v4 |
9 | g.130452324T>C | CA467388206 | ASS1 | c.96T>C (p.Ile32=) c.210T>C (p.Ile70=) c.192T>C (p.Ile64=) | |
9 | g.130452324T>G | CA375223653 | ASS1 | c.96T>G (p.Ile32Met) c.210T>G (p.Ile70Met) c.192T>G (p.Ile64Met) | |
9 | g.130452325G>A | CA375223654 | ASS1 | c.97G>A (p.Ala33Thr) c.211G>A (p.Ala71Thr) c.193G>A (p.Ala65Thr) | |
9 | g.130452325G>C | CA375223655 | ASS1 | c.97G>C (p.Ala33Pro) c.211G>C (p.Ala71Pro) c.193G>C (p.Ala65Pro) | |
9 | g.130452325G= | CA1881244557 | ASS1 | c.97G= (p.Ala33=) c.211G= (p.Ala71=) c.193G= (p.Ala65=) | |
9 | g.130452325G>T | CA200603579 | ASS1 | c.97G>T (p.Ala33Ser) c.211G>T (p.Ala71Ser) c.193G>T (p.Ala65Ser) | dbSNP |
9 | g.130452326C>A | CA375223656 | ASS1 | c.98C>A (p.Ala33Asp) c.212C>A (p.Ala71Asp) c.194C>A (p.Ala65Asp) | |
9 | g.130452326C>G | CA375223657 | ASS1 | c.98C>G (p.Ala33Gly) c.212C>G (p.Ala71Gly) c.194C>G (p.Ala65Gly) | |
9 | g.130452326C>T | CA375223658 | ASS1 | c.98C>T (p.Ala33Val) c.212C>T (p.Ala71Val) c.194C>T (p.Ala65Val) | |
9 | g.130452327C>A | CA467388210 | ASS1 | c.99C>A (p.Ala33=) c.213C>A (p.Ala71=) c.195C>A (p.Ala65=) | |
9 | g.130452327C= | CA1881244563 | ASS1 | c.99C= (p.Ala33=) c.213C= (p.Ala71=) c.195C= (p.Ala65=) | |
9 | g.130452327C>G | CA467388209 | ASS1 | c.99C>G (p.Ala33=) c.213C>G (p.Ala71=) c.195C>G (p.Ala65=) | |
9 | g.130452327C>T | CA5283141 | ASS1 | c.99C>T (p.Ala33=) c.213C>T (p.Ala71=) c.195C>T (p.Ala65=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452328T>A | CA312356 | ASS1 | c.100T>A (p.Tyr34Asn) c.214T>A (p.Tyr72Asn) c.196T>A (p.Tyr66Asn) | dbSNP |
9 | g.130452328T>C | CA375223660 | ASS1 | c.100T>C (p.Tyr34His) c.214T>C (p.Tyr72His) c.196T>C (p.Tyr66His) | |
9 | g.130452328T>G | CA375223659 | ASS1 | c.100T>G (p.Tyr34Asp) c.214T>G (p.Tyr72Asp) c.196T>G (p.Tyr66Asp) | |
9 | g.130452328T= | CA1881244566 | ASS1 | c.100T= (p.Tyr34=) c.214T= (p.Tyr72=) c.196T= (p.Tyr66=) | |
9 | g.130452328dup | CA2695211650 | ASS1 | c.100dup (p.Tyr34LeufsTer29) c.214dup (p.Tyr72LeufsTer29) c.196dup (p.Tyr66LeufsTer29) | |
9 | g.130452329A>C | CA375223661 | ASS1 | c.101A>C (p.Tyr34Ser) c.215A>C (p.Tyr72Ser) c.197A>C (p.Tyr66Ser) | gnomAD v4 |
9 | g.130452329A>G | CA375223662 | ASS1 | c.101A>G (p.Tyr34Cys) c.215A>G (p.Tyr72Cys) c.197A>G (p.Tyr66Cys) | gnomAD v4 |
9 | g.130452329A>T | CA375223663 | ASS1 | c.101A>T (p.Tyr34Phe) c.215A>T (p.Tyr72Phe) c.197A>T (p.Tyr66Phe) | |
9 | g.130452329_130452331del | CA2692119546 | ASS1 | c.101_103del (p.Tyr34del) c.215_217del (p.Tyr72del) c.197_199del (p.Tyr66del) | gnomAD v4 |
9 | g.130452330T>A | CA375223664 | ASS1 | c.102T>A (p.Tyr34Ter) c.216T>A (p.Tyr72Ter) c.198T>A (p.Tyr66Ter) | |
9 | g.130452330T>C | CA467388211 | ASS1 | c.102T>C (p.Tyr34=) c.216T>C (p.Tyr72=) c.198T>C (p.Tyr66=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
9 | g.130452330T>G | CA375223665 | ASS1 | c.102T>G (p.Tyr34Ter) c.216T>G (p.Tyr72Ter) c.198T>G (p.Tyr66Ter) | gnomAD v4 |
9 | g.130452330T= | CA1881244568 | ASS1 | c.102T= (p.Tyr34=) c.216T= (p.Tyr72=) c.198T= (p.Tyr66=) | |
9 | g.130452331C>A | CA375223667 | ASS1 | c.103C>A (p.Leu35Met) c.217C>A (p.Leu73Met) c.199C>A (p.Leu67Met) | |
9 | g.130452331C= | CA1881244571 | ASS1 | c.103C= (p.Leu35=) c.217C= (p.Leu73=) c.199C= (p.Leu67=) | |
9 | g.130452331C>G | CA375223666 | ASS1 | c.103C>G (p.Leu35Val) c.217C>G (p.Leu73Val) c.199C>G (p.Leu67Val) | |
9 | g.130452331C>T | CA5283142 | ASS1 | c.103C>T (p.Leu35=) c.217C>T (p.Leu73=) c.199C>T (p.Leu67=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452332T>A | CA375223668 | ASS1 | c.104T>A (p.Leu35Gln) c.218T>A (p.Leu73Gln) c.200T>A (p.Leu67Gln) | |
9 | g.130452332T>C | CA375223669 | ASS1 | c.104T>C (p.Leu35Pro) c.218T>C (p.Leu73Pro) c.200T>C (p.Leu67Pro) | |
9 | g.130452332T>G | CA375223670 | ASS1 | c.104T>G (p.Leu35Arg) c.218T>G (p.Leu73Arg) c.200T>G (p.Leu67Arg) | |
9 | g.130452333G>A | CA467388215 | ASS1 | c.105G>A (p.Leu35=) c.219G>A (p.Leu73=) c.201G>A (p.Leu67=) | |
9 | g.130452333G>C | CA467388216 | ASS1 | c.105G>C (p.Leu35=) c.219G>C (p.Leu73=) c.201G>C (p.Leu67=) | |
9 | g.130452333G>T | CA467388217 | ASS1 | c.105G>T (p.Leu35=) c.219G>T (p.Leu73=) c.201G>T (p.Leu67=) | |
9 | g.130452334G>A | CA375223671 | ASS1 | c.105+1G>A (n.105+1G>A) c.219+1G>A (n.219+1G>A) c.201+1G>A (n.201+1G>A) | |
9 | g.130452334G>C | CA375223672 | ASS1 | c.105+1G>C (n.105+1G>C) c.219+1G>C (n.219+1G>C) c.201+1G>C (n.201+1G>C) | |
9 | g.130452334G>T | CA375223673 | ASS1 | c.105+1G>T (n.105+1G>T) c.219+1G>T (n.219+1G>T) c.201+1G>T (n.201+1G>T) | gnomAD v4 |
9 | g.130452335T>A | CA375223674 | ASS1 | c.105+2T>A (n.105+2T>A) c.219+2T>A (n.219+2T>A) c.201+2T>A (n.201+2T>A) | |
9 | g.130452335T>C | CA375223676 | ASS1 | c.105+2T>C (n.105+2T>C) c.219+2T>C (n.219+2T>C) c.201+2T>C (n.201+2T>C) | |
9 | g.130452335T>G | CA375223675 | ASS1 | c.105+2T>G (n.105+2T>G) c.219+2T>G (n.219+2T>G) c.201+2T>G (n.201+2T>G) | |
9 | g.130452336G>A | CA2692119557 | ASS1 | c.105+3G>A (n.105+3G>A) c.219+3G>A (n.219+3G>A) c.201+3G>A (n.201+3G>A) | gnomAD v4 |
9 | g.130452338G>A | CA590703557 | ASS1 | c.105+5G>A (n.105+5G>A) c.219+5G>A (n.219+5G>A) c.201+5G>A (n.201+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452338G>C | CA2692119560 | ASS1 | c.105+5G>C (n.105+5G>C) c.219+5G>C (n.219+5G>C) c.201+5G>C (n.201+5G>C) | gnomAD v4 |
9 | g.130452338G= | CA1881244574 | ASS1 | c.105+5G= (n.105+5G=) c.219+5G= (n.219+5G=) c.201+5G= (n.201+5G=) | |
9 | g.130452340del | CA2579483309 | ASS1 | c.105+7del (n.105+7del) c.219+7del (n.219+7del) c.201+7del (n.201+7del) | |
9 | g.130452340G>A | CA860467478 | ASS1 | c.105+7G>A (n.105+7G>A) c.219+7G>A (n.219+7G>A) c.201+7G>A (n.201+7G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452340G= | CA1881244578 | ASS1 | c.105+7G= (n.105+7G=) c.219+7G= (n.219+7G=) c.201+7G= (n.201+7G=) | |
9 | g.130452341A>G | CA2692119563 | ASS1 | c.105+8A>G (n.105+8A>G) c.219+8A>G (n.219+8A>G) c.201+8A>G (n.201+8A>G) | gnomAD v4 |
9 | g.130452343C>A | CA2573144312 | ASS1 | c.105+10C>A (n.105+10C>A) c.219+10C>A (n.219+10C>A) c.201+10C>A (n.201+10C>A) | ClinVar dbSNP |
9 | g.130452343C= | CA1881244581 | ASS1 | c.105+10C= (n.105+10C=) c.219+10C= (n.219+10C=) c.201+10C= (n.201+10C=) | |
9 | g.130452343C>T | CA200603591 | ASS1 | c.105+10C>T (n.105+10C>T) c.219+10C>T (n.219+10C>T) c.201+10C>T (n.201+10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452344G>A | CA200603598 | ASS1 | c.105+11G>A (n.105+11G>A) c.219+11G>A (n.219+11G>A) c.201+11G>A (n.201+11G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452344G= | CA1881244583 | ASS1 | c.105+11G= (n.105+11G=) c.219+11G= (n.219+11G=) c.201+11G= (n.201+11G=) | |
9 | g.130452344G>T | CA1129488244 | ASS1 | c.105+11G>T (n.105+11G>T) c.219+11G>T (n.219+11G>T) c.201+11G>T (n.201+11G>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452345A>G | CA2692119568 | ASS1 | c.105+12A>G (n.105+12A>G) c.219+12A>G (n.219+12A>G) c.201+12A>G (n.201+12A>G) | gnomAD v4 |
9 | g.130452346C= | CA1881244585 | ASS1 | c.105+13C= (n.105+13C=) c.219+13C= (n.219+13C=) c.201+13C= (n.201+13C=) | |
9 | g.130452346C>G | CA2692119570 | ASS1 | c.105+13C>G (n.105+13C>G) c.219+13C>G (n.219+13C>G) c.201+13C>G (n.201+13C>G) | gnomAD v4 |
9 | g.130452346C>T | CA5283143 | ASS1 | c.105+13C>T (n.105+13C>T) c.219+13C>T (n.219+13C>T) c.201+13C>T (n.201+13C>T) | dbSNP ExAC gnomAD v2 |
9 | g.130452347C>A | CA2692119571 | ASS1 | c.105+14C>A (n.105+14C>A) c.219+14C>A (n.219+14C>A) c.201+14C>A (n.201+14C>A) | gnomAD v4 |
9 | g.130452347C= | CA1881244587 | ASS1 | c.105+14C= (n.105+14C=) c.219+14C= (n.219+14C=) c.201+14C= (n.201+14C=) | |
9 | g.130452347C>G | CA590703558 | ASS1 | c.105+14C>G (n.105+14C>G) c.219+14C>G (n.219+14C>G) c.201+14C>G (n.201+14C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452347C>T | CA5283144 | ASS1 | c.105+14C>T (n.105+14C>T) c.219+14C>T (n.219+14C>T) c.201+14C>T (n.201+14C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452348T>A | CA2692119576 | ASS1 | c.105+15T>A (n.105+15T>A) c.219+15T>A (n.219+15T>A) c.201+15T>A (n.201+15T>A) | gnomAD v4 |
9 | g.130452348_130452349delinsTG | CA1881244589 | ASS1 | c.105+15_105+16delinsTG (n.105+15_105+16delinsTG) c.219+15_219+16delinsTG (n.219+15_219+16delinsTG) c.201+15_201+16delinsTG (n.201+15_201+16delinsTG) | |
9 | g.130452349G>A | CA2692119578 | ASS1 | c.105+16G>A (n.105+16G>A) c.219+16G>A (n.219+16G>A) c.201+16G>A (n.201+16G>A) | gnomAD v4 |
9 | g.130452351del | CA590703559 | ASS1 | c.105+18del (n.105+18del) c.219+18del (n.219+18del) c.201+18del (n.201+18del) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452350G>A | CA5283145 | ASS1 | c.105+17G>A (n.105+17G>A) c.219+17G>A (n.219+17G>A) c.201+17G>A (n.201+17G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130452350G>C | CA2579483310 | ASS1 | c.105+17G>C (n.105+17G>C) c.219+17G>C (n.219+17G>C) c.201+17G>C (n.201+17G>C) | ClinVar gnomAD v4 |
9 | g.130452350G= | CA1881244592 | ASS1 | c.105+17G= (n.105+17G=) c.219+17G= (n.219+17G=) c.201+17G= (n.201+17G=) | |
9 | g.130452351G>A | CA2692119582 | ASS1 | c.105+18G>A (n.105+18G>A) c.219+18G>A (n.219+18G>A) c.201+18G>A (n.201+18G>A) | gnomAD v4 |
9 | g.130452351G>C | CA2579483311 | ASS1 | c.105+18G>C (n.105+18G>C) c.219+18G>C (n.219+18G>C) c.201+18G>C (n.201+18G>C) | gnomAD v4 |
9 | g.130452352T>C | CA2579483312 | ASS1 | c.105+19T>C (n.105+19T>C) c.219+19T>C (n.219+19T>C) c.201+19T>C (n.201+19T>C) | gnomAD v4 |
9 | g.130452353G>A | CA590703560 | ASS1 | c.105+20G>A (n.105+20G>A) c.219+20G>A (n.219+20G>A) c.201+20G>A (n.201+20G>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452353G= | CA1881244594 | ASS1 | c.105+20G= (n.105+20G=) c.219+20G= (n.219+20G=) c.201+20G= (n.201+20G=) | |
9 | g.130452355_130452356del | CA2692119584 | ASS1 | c.105+22_105+23del (n.105+22_105+23del) c.219+22_219+23del (n.219+22_219+23del) c.201+22_201+23del (n.201+22_201+23del) | dbSNP gnomAD v4 |
9 | g.130452355_130452357delinsCTG | CA1881244596 | ASS1 | c.105+22_105+24delinsCTG (n.105+22_105+24delinsCTG) c.219+22_219+24delinsCTG (n.219+22_219+24delinsCTG) c.201+22_201+24delinsCTG (n.201+22_201+24delinsCTG) | |
9 | g.130452357_130452358del | CA918565117 | ASS1 | c.105+24_105+25del (n.105+24_105+25del) c.219+24_219+25del (n.219+24_219+25del) c.201+24_201+25del (n.201+24_201+25del) | dbSNP |
9 | g.130452357G>C | CA5283146 | ASS1 | c.105+24G>C (n.105+24G>C) c.219+24G>C (n.219+24G>C) c.201+24G>C (n.201+24G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130452357G= | CA1881244598 | ASS1 | c.105+24G= (n.105+24G=) c.219+24G= (n.219+24G=) c.201+24G= (n.201+24G=) |