| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.50193349G>A | CA433860506 | GNAT1 | c.234G>A (p.Leu78=) c.90G>A (p.Leu30=) n.514G>A | |
| 3 | g.50193349G>C | CA433860508 | GNAT1 | c.234G>C (p.Leu78=) c.90G>C (p.Leu30=) n.514G>C | |
| 3 | g.50193349G>T | CA433860510 | GNAT1 | c.234G>T (p.Leu78=) c.90G>T (p.Leu30=) n.514G>T | gnomAD v4 |
| 3 | g.50193350G>A | CA352913547 | GNAT1 | c.235G>A (p.Ala79Thr) c.91G>A (p.Ala31Thr) n.515G>A | |
| 3 | g.50193350G>C | CA352913549 | GNAT1 | c.235G>C (p.Ala79Pro) c.91G>C (p.Ala31Pro) n.515G>C | |
| 3 | g.50193350G>T | CA352913569 | GNAT1 | c.235G>T (p.Ala79Ser) c.91G>T (p.Ala31Ser) n.515G>T | |
| 3 | g.50193355_50193366del | CA2665815203 | GNAT1 | c.240_251del (p.Ile80_Ala83del) c.96_107del (p.Ile32_Ala35del) n.520_531del | gnomAD v4 |
| 3 | g.50193351C>A | CA352913574 | GNAT1 | c.236C>A (p.Ala79Asp) c.92C>A (p.Ala31Asp) n.516C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193351C= | CA1363836755 | GNAT1 | c.236C= (p.Ala79=) c.92C= (p.Ala31=) n.516C= | |
| 3 | g.50193351C>G | CA2412488 | GNAT1 | c.236C>G (p.Ala79Gly) c.92C>G (p.Ala31Gly) n.516C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193351C>T | CA352913583 | GNAT1 | c.236C>T (p.Ala79Val) c.92C>T (p.Ala31Val) n.516C>T | |
| 3 | g.50193352C>A | CA433860512 | GNAT1 | c.237C>A (p.Ala79=) c.93C>A (p.Ala31=) n.517C>A | |
| 3 | g.50193352C= | CA1363836756 | GNAT1 | c.237C= (p.Ala79=) c.93C= (p.Ala31=) n.517C= | |
| 3 | g.50193352C>G | CA433860515 | GNAT1 | c.237C>G (p.Ala79=) c.93C>G (p.Ala31=) n.517C>G | |
| 3 | g.50193352C>T | CA433860517 | GNAT1 | c.237C>T (p.Ala79=) c.93C>T (p.Ala31=) n.517C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193353A>C | CA352913590 | GNAT1 | c.238A>C (p.Ile80Leu) c.94A>C (p.Ile32Leu) n.518A>C | |
| 3 | g.50193353A>G | CA352913594 | GNAT1 | c.238A>G (p.Ile80Val) c.94A>G (p.Ile32Val) n.518A>G | |
| 3 | g.50193353A>T | CA352913597 | GNAT1 | c.238A>T (p.Ile80Phe) c.94A>T (p.Ile32Phe) n.518A>T | |
| 3 | g.50193354T>A | CA352913603 | GNAT1 | c.239T>A (p.Ile80Asn) c.95T>A (p.Ile32Asn) n.519T>A | |
| 3 | g.50193354T>C | CA352913605 | GNAT1 | c.239T>C (p.Ile80Thr) c.95T>C (p.Ile32Thr) n.519T>C | gnomAD v4 |
| 3 | g.50193354T>G | CA352913606 | GNAT1 | c.239T>G (p.Ile80Ser) c.95T>G (p.Ile32Ser) n.519T>G | |
| 3 | g.50193355C>A | CA433860523 | GNAT1 | c.240C>A (p.Ile80=) c.96C>A (p.Ile32=) n.520C>A | |
| 3 | g.50193355C= | CA1363836757 | GNAT1 | c.240C= (p.Ile80=) c.96C= (p.Ile32=) n.520C= | |
| 3 | g.50193355C>G | CA352913609 | GNAT1 | c.240C>G (p.Ile80Met) c.96C>G (p.Ile32Met) n.520C>G | dbSNP |
| 3 | g.50193355C>T | CA433860522 | GNAT1 | c.240C>T (p.Ile80=) c.96C>T (p.Ile32=) n.520C>T | dbSNP gnomAD v4 |
| 3 | g.50193356G>A | CA2412489 | GNAT1 | c.241G>A (p.Val81Ile) c.97G>A (p.Val33Ile) n.521G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193356G>C | CA2412490 | GNAT1 | c.241G>C (p.Val81Leu) c.97G>C (p.Val33Leu) n.521G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193356G= | CA1363836758 | GNAT1 | c.241G= (p.Val81=) c.97G= (p.Val33=) n.521G= | |
| 3 | g.50193356G>T | CA352913615 | GNAT1 | c.241G>T (p.Val81Leu) c.97G>T (p.Val33Leu) n.521G>T | |
| 3 | g.50193357T>A | CA352913621 | GNAT1 | c.242T>A (p.Val81Glu) c.98T>A (p.Val33Glu) n.522T>A | |
| 3 | g.50193357T>C | CA352913624 | GNAT1 | c.242T>C (p.Val81Ala) c.98T>C (p.Val33Ala) n.522T>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193357T>G | CA352913626 | GNAT1 | c.242T>G (p.Val81Gly) c.98T>G (p.Val33Gly) n.522T>G | |
| 3 | g.50193357T= | CA1363836759 | GNAT1 | c.242T= (p.Val81=) c.98T= (p.Val33=) n.522T= | |
| 3 | g.50193358A>C | CA433860536 | GNAT1 | c.243A>C (p.Val81=) c.99A>C (p.Val33=) n.523A>C | |
| 3 | g.50193358A>G | CA433860535 | GNAT1 | c.243A>G (p.Val81=) c.99A>G (p.Val33=) n.523A>G | |
| 3 | g.50193358A>T | CA433860533 | GNAT1 | c.243A>T (p.Val81=) c.99A>T (p.Val33=) n.523A>T | |
| 3 | g.50193359C>A | CA352913631 | GNAT1 | c.244C>A (p.Arg82Ser) c.100C>A (p.Arg34Ser) n.524C>A | dbSNP |
| 3 | g.50193359C= | CA1363836760 | GNAT1 | c.244C= (p.Arg82=) c.100C= (p.Arg34=) n.524C= | |
| 3 | g.50193359C>G | CA352913637 | GNAT1 | c.244C>G (p.Arg82Gly) c.100C>G (p.Arg34Gly) n.524C>G | |
| 3 | g.50193359C>T | CA352913641 | GNAT1 | c.244C>T (p.Arg82Cys) c.100C>T (p.Arg34Cys) n.524C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193360del | CA2665815223 | GNAT1 | c.245del (p.Arg82ProfsTer3) c.101del (p.Arg34ProfsTer3) n.525del | gnomAD v4 |
| 3 | g.50193360G>A | CA352913645 | GNAT1 | c.245G>A (p.Arg82His) c.101G>A (p.Arg34His) n.525G>A | dbSNP gnomAD v4 |
| 3 | g.50193360G>C | CA352913651 | GNAT1 | c.245G>C (p.Arg82Pro) c.101G>C (p.Arg34Pro) n.525G>C | |
| 3 | g.50193360G= | CA1363836761 | GNAT1 | c.245G= (p.Arg82=) c.101G= (p.Arg34=) n.525G= | |
| 3 | g.50193360G>T | CA352913653 | GNAT1 | c.245G>T (p.Arg82Leu) c.101G>T (p.Arg34Leu) n.525G>T | |
| 3 | g.50193361C>A | CA433860541 | GNAT1 | c.246C>A (p.Arg82=) c.102C>A (p.Arg34=) n.526C>A | |
| 3 | g.50193361C>G | CA433860544 | GNAT1 | c.246C>G (p.Arg82=) c.102C>G (p.Arg34=) n.526C>G | |
| 3 | g.50193361C>T | CA433860543 | GNAT1 | c.246C>T (p.Arg82=) c.102C>T (p.Arg34=) n.526C>T | COSMIC |
| 3 | g.50193362G>A | CA352913660 | GNAT1 | c.247G>A (p.Ala83Thr) c.103G>A (p.Ala35Thr) n.527G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.50193362G>C | CA352913665 | GNAT1 | c.247G>C (p.Ala83Pro) c.103G>C (p.Ala35Pro) n.527G>C | |
| 3 | g.50193362G= | CA1363836762 | GNAT1 | c.247G= (p.Ala83=) c.103G= (p.Ala35=) n.527G= | |
| 3 | g.50193362G>T | CA352913666 | GNAT1 | c.247G>T (p.Ala83Ser) c.103G>T (p.Ala35Ser) n.527G>T | COSMIC |
| 3 | g.50193363C>A | CA352913676 | GNAT1 | c.248C>A (p.Ala83Asp) c.104C>A (p.Ala35Asp) n.528C>A | |
| 3 | g.50193363C= | CA1363836763 | GNAT1 | c.248C= (p.Ala83=) c.104C= (p.Ala35=) n.528C= | |
| 3 | g.50193363C>G | CA352913670 | GNAT1 | c.248C>G (p.Ala83Gly) c.104C>G (p.Ala35Gly) n.528C>G | |
| 3 | g.50193363C>T | CA352913672 | GNAT1 | c.248C>T (p.Ala83Val) c.104C>T (p.Ala35Val) n.528C>T | dbSNP gnomAD v4 |
| 3 | g.50193364C>A | CA433860551 | GNAT1 | c.249C>A (p.Ala83=) c.105C>A (p.Ala35=) n.529C>A | |
| 3 | g.50193364C>G | CA433860552 | GNAT1 | c.249C>G (p.Ala83=) c.105C>G (p.Ala35=) n.529C>G | gnomAD v4 |
| 3 | g.50193364C>T | CA433860553 | GNAT1 | c.249C>T (p.Ala83=) c.105C>T (p.Ala35=) n.529C>T | |
| 3 | g.50193365A>C | CA352913692 | GNAT1 | c.250A>C (p.Met84Leu) c.106A>C (p.Met36Leu) n.530A>C | |
| 3 | g.50193365A>G | CA352913700 | GNAT1 | c.250A>G (p.Met84Val) c.106A>G (p.Met36Val) n.530A>G | |
| 3 | g.50193365A>T | CA352913696 | GNAT1 | c.250A>T (p.Met84Leu) c.106A>T (p.Met36Leu) n.530A>T | |
| 3 | g.50193366T>A | CA352913708 | GNAT1 | c.251T>A (p.Met84Lys) c.107T>A (p.Met36Lys) n.531T>A | gnomAD v4 |
| 3 | g.50193366T>C | CA352913714 | GNAT1 | c.251T>C (p.Met84Thr) c.107T>C (p.Met36Thr) n.531T>C | gnomAD v4 |
| 3 | g.50193366T>G | CA352913725 | GNAT1 | c.251T>G (p.Met84Arg) c.107T>G (p.Met36Arg) n.531T>G | |
| 3 | g.50193367G>A | CA352913734 | GNAT1 | c.252G>A (p.Met84Ile) c.108G>A (p.Met36Ile) n.532G>A | |
| 3 | g.50193367G>C | CA352913737 | GNAT1 | c.252G>C (p.Met84Ile) c.108G>C (p.Met36Ile) n.532G>C | |
| 3 | g.50193367G>T | CA352913744 | GNAT1 | c.252G>T (p.Met84Ile) c.108G>T (p.Met36Ile) n.532G>T | |
| 3 | g.50193368A= | CA1363836764 | GNAT1 | c.253A= (p.Thr85=) c.109A= (p.Thr37=) n.533A= | |
| 3 | g.50193368A>C | CA352913751 | GNAT1 | c.253A>C (p.Thr85Pro) c.109A>C (p.Thr37Pro) n.533A>C | dbSNP |
| 3 | g.50193368A>G | CA352913756 | GNAT1 | c.253A>G (p.Thr85Ala) c.109A>G (p.Thr37Ala) n.533A>G | |
| 3 | g.50193368A>T | CA352913758 | GNAT1 | c.253A>T (p.Thr85Ser) c.109A>T (p.Thr37Ser) n.533A>T | |
| 3 | g.50193370_50193388del | CA2499216917 | GNAT1 | c.255_273del (p.Thr86GlufsTer12) c.111_129del (p.Thr38GlufsTer12) n.535_553del | ClinVar dbSNP |
| 3 | g.50193369C>A | CA352913759 | GNAT1 | c.254C>A (p.Thr85Asn) c.110C>A (p.Thr37Asn) n.534C>A | |
| 3 | g.50193369C>G | CA352913760 | GNAT1 | c.254C>G (p.Thr85Ser) c.110C>G (p.Thr37Ser) n.534C>G | |
| 3 | g.50193369C>T | CA352913764 | GNAT1 | c.254C>T (p.Thr85Ile) c.110C>T (p.Thr37Ile) n.534C>T | gnomAD v4 |
| 3 | g.50193370C>A | CA433860564 | GNAT1 | c.255C>A (p.Thr85=) c.111C>A (p.Thr37=) n.535C>A | |
| 3 | g.50193370C= | CA1363836765 | GNAT1 | c.255C= (p.Thr85=) c.111C= (p.Thr37=) n.535C= | |
| 3 | g.50193370C>G | CA433860565 | GNAT1 | c.255C>G (p.Thr85=) c.111C>G (p.Thr37=) n.535C>G | dbSNP |
| 3 | g.50193370C>T | CA2412491 | GNAT1 | c.255C>T (p.Thr85=) c.111C>T (p.Thr37=) n.535C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.50193371A= | CA1363836766 | GNAT1 | c.256A= (p.Thr86=) c.112A= (p.Thr38=) n.536A= | |
| 3 | g.50193371A>C | CA352913773 | GNAT1 | c.256A>C (p.Thr86Pro) c.112A>C (p.Thr38Pro) n.536A>C | dbSNP |
| 3 | g.50193371A>G | CA352913780 | GNAT1 | c.256A>G (p.Thr86Ala) c.112A>G (p.Thr38Ala) n.536A>G | dbSNP |
| 3 | g.50193371A>T | CA352913775 | GNAT1 | c.256A>T (p.Thr86Ser) c.112A>T (p.Thr38Ser) n.536A>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193372C>A | CA352913783 | GNAT1 | c.257C>A (p.Thr86Lys) c.113C>A (p.Thr38Lys) n.537C>A | dbSNP |
| 3 | g.50193372C>G | CA352913784 | GNAT1 | c.257C>G (p.Thr86Arg) c.113C>G (p.Thr38Arg) n.537C>G | |
| 3 | g.50193372C>T | CA352913785 | GNAT1 | c.257C>T (p.Thr86Ile) c.113C>T (p.Thr38Ile) n.537C>T | |
| 3 | g.50193373A= | CA1363836767 | GNAT1 | c.258A= (p.Thr86=) c.114A= (p.Thr38=) n.538A= | |
| 3 | g.50193373A>C | CA2412492 | GNAT1 | c.258A>C (p.Thr86=) c.114A>C (p.Thr38=) n.538A>C | dbSNP ExAC gnomAD v2 |
| 3 | g.50193373A>G | CA433860571 | GNAT1 | c.258A>G (p.Thr86=) c.114A>G (p.Thr38=) n.538A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193373A>T | CA433860572 | GNAT1 | c.258A>T (p.Thr86=) c.114A>T (p.Thr38=) n.538A>T | |
| 3 | g.50193373dup | CA2756206777 | GNAT1 | c.258dup (p.Leu87ThrfsTer?) c.114dup (p.Leu39ThrfsTer?) n.538dup | |
| 3 | g.50193374C>A | CA352913789 | GNAT1 | c.259C>A (p.Leu87Ile) c.115C>A (p.Leu39Ile) n.539C>A | |
| 3 | g.50193374C= | CA1363836768 | GNAT1 | c.259C= (p.Leu87=) c.115C= (p.Leu39=) n.539C= | |
| 3 | g.50193374C>G | CA352913792 | GNAT1 | c.259C>G (p.Leu87Val) c.115C>G (p.Leu39Val) n.539C>G | |
| 3 | g.50193374C>T | CA352913797 | GNAT1 | c.259C>T (p.Leu87Phe) c.115C>T (p.Leu39Phe) n.539C>T | ClinVar dbSNP |
| 3 | g.50193375_50193376del | CA2577853795 | GNAT1 | c.260_261del (p.Leu87GlnfsTer?) c.116_117del (p.Leu39GlnfsTer?) n.540_541del | |
| 3 | g.50193375T>A | CA352913801 | GNAT1 | c.260T>A (p.Leu87His) c.116T>A (p.Leu39His) n.540T>A | |
| 3 | g.50193375T>C | CA352913804 | GNAT1 | c.260T>C (p.Leu87Pro) c.116T>C (p.Leu39Pro) n.540T>C | |
| 3 | g.50193375T>G | CA352913807 | GNAT1 | c.260T>G (p.Leu87Arg) c.116T>G (p.Leu39Arg) n.540T>G | |
| 3 | g.50193376C>A | CA433860581 | GNAT1 | c.261C>A (p.Leu87=) c.117C>A (p.Leu39=) n.541C>A | gnomAD v4 |
| 3 | g.50193376C>G | CA433860585 | GNAT1 | c.261C>G (p.Leu87=) c.117C>G (p.Leu39=) n.541C>G | |
| 3 | g.50193376C>T | CA433860582 | GNAT1 | c.261C>T (p.Leu87=) c.117C>T (p.Leu39=) n.541C>T | |
| 3 | g.50193377A>C | CA352913828 | GNAT1 | c.262A>C (p.Asn88His) c.118A>C (p.Asn40His) n.542A>C | |
| 3 | g.50193377A>G | CA352913824 | GNAT1 | c.262A>G (p.Asn88Asp) c.118A>G (p.Asn40Asp) n.542A>G | |
| 3 | g.50193377A>T | CA352913821 | GNAT1 | c.262A>T (p.Asn88Tyr) c.118A>T (p.Asn40Tyr) n.542A>T | |
| 3 | g.50193378A= | CA1363836769 | GNAT1 | c.263A= (p.Asn88=) c.119A= (p.Asn40=) n.543A= | |
| 3 | g.50193378A>C | CA352913844 | GNAT1 | c.263A>C (p.Asn88Thr) c.119A>C (p.Asn40Thr) n.543A>C | |
| 3 | g.50193378A>G | CA74601110 | GNAT1 | c.263A>G (p.Asn88Ser) c.119A>G (p.Asn40Ser) n.543A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193378A>T | CA352913840 | GNAT1 | c.263A>T (p.Asn88Ile) c.119A>T (p.Asn40Ile) n.543A>T | |
| 3 | g.50193379C>A | CA352913847 | GNAT1 | c.264C>A (p.Asn88Lys) c.120C>A (p.Asn40Lys) n.544C>A | |
| 3 | g.50193379C= | CA1363836770 | GNAT1 | c.264C= (p.Asn88=) c.120C= (p.Asn40=) n.544C= | |
| 3 | g.50193379C>G | CA352913849 | GNAT1 | c.264C>G (p.Asn88Lys) c.120C>G (p.Asn40Lys) n.544C>G | |
| 3 | g.50193379C>T | CA433860594 | GNAT1 | c.264C>T (p.Asn88=) c.120C>T (p.Asn40=) n.544C>T | dbSNP |
| 3 | g.50193379_50193383dup | CA645531510 | GNAT1 | c.264_268dup (p.Gln90ProfsTer16) c.120_124dup (p.Gln42ProfsTer16) n.544_548dup | COSMIC |
| 3 | g.50193380A= | CA1363836771 | GNAT1 | c.265A= (p.Ile89=) c.121A= (p.Ile41=) n.545A= | |
| 3 | g.50193380A>C | CA352913852 | GNAT1 | c.265A>C (p.Ile89Leu) c.121A>C (p.Ile41Leu) n.545A>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193380A>G | CA352913853 | GNAT1 | c.265A>G (p.Ile89Val) c.121A>G (p.Ile41Val) n.545A>G | |
| 3 | g.50193380A>T | CA352913856 | GNAT1 | c.265A>T (p.Ile89Phe) c.121A>T (p.Ile41Phe) n.545A>T | |
| 3 | g.50193381T>A | CA352913868 | GNAT1 | c.266T>A (p.Ile89Asn) c.122T>A (p.Ile41Asn) n.546T>A | |
| 3 | g.50193381T>C | CA352913871 | GNAT1 | c.266T>C (p.Ile89Thr) c.122T>C (p.Ile41Thr) n.546T>C | gnomAD v4 |
| 3 | g.50193381T>G | CA352913870 | GNAT1 | c.266T>G (p.Ile89Ser) c.122T>G (p.Ile41Ser) n.546T>G | |
| 3 | g.50193382C>A | CA433860598 | GNAT1 | c.267C>A (p.Ile89=) c.123C>A (p.Ile41=) n.547C>A | |
| 3 | g.50193382C>G | CA352913872 | GNAT1 | c.267C>G (p.Ile89Met) c.123C>G (p.Ile41Met) n.547C>G | |
| 3 | g.50193382C>T | CA433860600 | GNAT1 | c.267C>T (p.Ile89=) c.123C>T (p.Ile41=) n.547C>T | |
| 3 | g.50193383C>A | CA352913875 | GNAT1 | c.268C>A (p.Gln90Lys) c.124C>A (p.Gln42Lys) n.548C>A | |
| 3 | g.50193383C= | CA1363836772 | GNAT1 | c.268C= (p.Gln90=) c.124C= (p.Gln42=) n.548C= | |
| 3 | g.50193383C>G | CA352913877 | GNAT1 | c.268C>G (p.Gln90Glu) c.124C>G (p.Gln42Glu) n.548C>G | |
| 3 | g.50193383C>T | CA74601113 | GNAT1 | c.268C>T (p.Gln90Ter) c.124C>T (p.Gln42Ter) n.548C>T | dbSNP |
| 3 | g.50193384A>C | CA352913883 | GNAT1 | c.269A>C (p.Gln90Pro) c.125A>C (p.Gln42Pro) n.549A>C | |
| 3 | g.50193384A>G | CA352913902 | GNAT1 | c.269A>G (p.Gln90Arg) c.125A>G (p.Gln42Arg) n.549A>G | |
| 3 | g.50193384A>T | CA352913897 | GNAT1 | c.269A>T (p.Gln90Leu) c.125A>T (p.Gln42Leu) n.549A>T | |
| 3 | g.50193385G>A | CA2412493 | GNAT1 | c.270G>A (p.Gln90=) c.126G>A (p.Gln42=) n.550G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193385G>C | CA352913909 | GNAT1 | c.270G>C (p.Gln90His) c.126G>C (p.Gln42His) n.550G>C | |
| 3 | g.50193385G= | CA1363836773 | GNAT1 | c.270G= (p.Gln90=) c.126G= (p.Gln42=) n.550G= | |
| 3 | g.50193385G>T | CA352913911 | GNAT1 | c.270G>T (p.Gln90His) c.126G>T (p.Gln42His) n.550G>T | COSMIC |
| 3 | g.50193386T>A | CA352913917 | GNAT1 | c.271T>A (p.Tyr91Asn) c.127T>A (p.Tyr43Asn) n.551T>A | |
| 3 | g.50193386T>C | CA352913920 | GNAT1 | c.271T>C (p.Tyr91His) c.127T>C (p.Tyr43His) n.551T>C | |
| 3 | g.50193386T>G | CA352913924 | GNAT1 | c.271T>G (p.Tyr91Asp) c.127T>G (p.Tyr43Asp) n.551T>G | |
| 3 | g.50193387A= | CA1363836774 | GNAT1 | c.272A= (p.Tyr91=) c.128A= (p.Tyr43=) n.552A= | |
| 3 | g.50193387A>C | CA352913929 | GNAT1 | c.272A>C (p.Tyr91Ser) c.128A>C (p.Tyr43Ser) n.552A>C | gnomAD v4 |
| 3 | g.50193387A>G | CA352913933 | GNAT1 | c.272A>G (p.Tyr91Cys) c.128A>G (p.Tyr43Cys) n.552A>G | ClinVar dbSNP |
| 3 | g.50193387A>T | CA352913938 | GNAT1 | c.272A>T (p.Tyr91Phe) c.128A>T (p.Tyr43Phe) n.552A>T | |
| 3 | g.50193388C>A | CA2412494 | GNAT1 | c.273C>A (p.Tyr91Ter) c.129C>A (p.Tyr43Ter) n.553C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193388C= | CA1363836775 | GNAT1 | c.273C= (p.Tyr91=) c.129C= (p.Tyr43=) n.553C= | |
| 3 | g.50193388C>G | CA352913945 | GNAT1 | c.273C>G (p.Tyr91Ter) c.129C>G (p.Tyr43Ter) n.553C>G | |
| 3 | g.50193388C>T | CA433860615 | GNAT1 | c.273C>T (p.Tyr91=) c.129C>T (p.Tyr43=) n.553C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193389G>A | CA2412495 | GNAT1 | c.274G>A (p.Gly92Arg) c.130G>A (p.Gly44Arg) n.554G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193389G>C | CA352913954 | GNAT1 | c.274G>C (p.Gly92Arg) c.130G>C (p.Gly44Arg) n.554G>C | gnomAD v4 |
| 3 | g.50193389G= | CA1363836776 | GNAT1 | c.274G= (p.Gly92=) c.130G= (p.Gly44=) n.554G= | |
| 3 | g.50193389G>T | CA352913948 | GNAT1 | c.274G>T (p.Gly92Ter) c.130G>T (p.Gly44Ter) n.554G>T | |
| 3 | g.50193390G>A | CA352913957 | GNAT1 | c.275G>A (p.Gly92Glu) c.131G>A (p.Gly44Glu) n.555G>A | gnomAD v4 |
| 3 | g.50193390G>C | CA352913962 | GNAT1 | c.275G>C (p.Gly92Ala) c.131G>C (p.Gly44Ala) n.555G>C | |
| 3 | g.50193390G>T | CA352913959 | GNAT1 | c.275G>T (p.Gly92Val) c.131G>T (p.Gly44Val) n.555G>T | |
| 3 | g.50193391A>C | CA433860623 | GNAT1 | c.276A>C (p.Gly92=) c.132A>C (p.Gly44=) n.556A>C | |
| 3 | g.50193391A>G | CA433860619 | GNAT1 | c.276A>G (p.Gly92=) c.132A>G (p.Gly44=) n.556A>G | |
| 3 | g.50193391A>T | CA433860621 | GNAT1 | c.276A>T (p.Gly92=) c.132A>T (p.Gly44=) n.556A>T | |
| 3 | g.50193392G>A | CA2412496 | GNAT1 | c.277G>A (p.Asp93Asn) c.133G>A (p.Asp45Asn) n.557G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193392G>C | CA352913975 | GNAT1 | c.277G>C (p.Asp93His) c.133G>C (p.Asp45His) n.557G>C | |
| 3 | g.50193392G= | CA1363836777 | GNAT1 | c.277G= (p.Asp93=) c.133G= (p.Asp45=) n.557G= | |
| 3 | g.50193392G>T | CA352913971 | GNAT1 | c.277G>T (p.Asp93Tyr) c.133G>T (p.Asp45Tyr) n.557G>T | |
| 3 | g.50193392_50193393delinsAT | CA2573137204 | GNAT1 | c.277_278delinsAT (p.Asp93Ile) c.133_134delinsAT (p.Asp45Ile) n.557_558delinsAT | ClinVar dbSNP |
| 3 | g.50193393A= | CA1363836778 | GNAT1 | c.278A= (p.Asp93=) c.134A= (p.Asp45=) n.558A= | |
| 3 | g.50193393A>C | CA352913976 | GNAT1 | c.278A>C (p.Asp93Ala) c.134A>C (p.Asp45Ala) n.558A>C | |
| 3 | g.50193393A>G | CA352913977 | GNAT1 | c.278A>G (p.Asp93Gly) c.134A>G (p.Asp45Gly) n.558A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.50193393A>T | CA2412497 | GNAT1 | c.278A>T (p.Asp93Val) c.134A>T (p.Asp45Val) n.558A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193393_50193395delinsACT | CA1363836779 | GNAT1 | c.278_280delinsACT (p.Asp93=) c.134_136delinsACT (p.Asp45=) n.558_560delinsACT | |
| 3 | g.50193393_50193397dup | CA907920500 | GNAT1 | c.278_282dup (p.Ala95ThrfsTer11) c.134_138dup (p.Ala47ThrfsTer11) n.558_562dup | dbSNP gnomAD v4 |
| 3 | g.50193394C>A | CA352913981 | GNAT1 | c.279C>A (p.Asp93Glu) c.135C>A (p.Asp45Glu) n.559C>A | |
| 3 | g.50193394C>G | CA352913984 | GNAT1 | c.279C>G (p.Asp93Glu) c.135C>G (p.Asp45Glu) n.559C>G | |
| 3 | g.50193394C>T | CA433860634 | GNAT1 | c.279C>T (p.Asp93=) c.135C>T (p.Asp45=) n.559C>T | gnomAD v4 |
| 3 | g.50193396_50193397del | CA543052622 | GNAT1 | c.281_282del (p.Ser94CysfsTer?) c.137_138del (p.Ser46CysfsTer?) n.561_562del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193395T>A | CA352913987 | GNAT1 | c.280T>A (p.Ser94Thr) c.136T>A (p.Ser46Thr) n.560T>A | |
| 3 | g.50193395T>C | CA352913992 | GNAT1 | c.280T>C (p.Ser94Pro) c.136T>C (p.Ser46Pro) n.560T>C | |
| 3 | g.50193395T>G | CA352913995 | GNAT1 | c.280T>G (p.Ser94Ala) c.136T>G (p.Ser46Ala) n.560T>G | |
| 3 | g.50193396C>A | CA352914010 | GNAT1 | c.281C>A (p.Ser94Tyr) c.137C>A (p.Ser46Tyr) n.561C>A | COSMIC |
| 3 | g.50193396C>G | CA352914013 | GNAT1 | c.281C>G (p.Ser94Cys) c.137C>G (p.Ser46Cys) n.561C>G | |
| 3 | g.50193396C>T | CA352914016 | GNAT1 | c.281C>T (p.Ser94Phe) c.137C>T (p.Ser46Phe) n.561C>T | COSMIC |
| 3 | g.50193396_50193397delinsCT | CA1363836780 | GNAT1 | c.281_282delinsCT (p.Ser94=) c.137_138delinsCT (p.Ser46=) n.561_562delinsCT | |
| 3 | g.50193397del | CA2412498 | GNAT1 | c.282del (p.Ala95HisfsTer9) c.138del (p.Ala47HisfsTer9) n.562del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193397T>A | CA433860638 | GNAT1 | c.282T>A (p.Ser94=) c.138T>A (p.Ser46=) n.562T>A | |
| 3 | g.50193397T>C | CA433860636 | GNAT1 | c.282T>C (p.Ser94=) c.138T>C (p.Ser46=) n.562T>C | |
| 3 | g.50193397T>G | CA433860637 | GNAT1 | c.282T>G (p.Ser94=) c.138T>G (p.Ser46=) n.562T>G | |
| 3 | g.50193398G>A | CA352914024 | GNAT1 | c.283G>A (p.Ala95Thr) c.139G>A (p.Ala47Thr) n.563G>A | |
| 3 | g.50193398G>C | CA352914029 | GNAT1 | c.283G>C (p.Ala95Pro) c.139G>C (p.Ala47Pro) n.563G>C | |
| 3 | g.50193398G>T | CA352914026 | GNAT1 | c.283G>T (p.Ala95Ser) c.139G>T (p.Ala47Ser) n.563G>T | |
| 3 | g.50193399C>A | CA352914031 | GNAT1 | c.284C>A (p.Ala95Glu) c.140C>A (p.Ala47Glu) n.564C>A | |
| 3 | g.50193399C>G | CA352914034 | GNAT1 | c.284C>G (p.Ala95Gly) c.140C>G (p.Ala47Gly) n.564C>G | |
| 3 | g.50193399C>T | CA352914041 | GNAT1 | c.284C>T (p.Ala95Val) c.140C>T (p.Ala47Val) n.564C>T | gnomAD v4 |
| 3 | g.50193400A>C | CA433860640 | GNAT1 | c.285A>C (p.Ala95=) c.141A>C (p.Ala47=) n.565A>C | |
| 3 | g.50193400A>G | CA433860641 | GNAT1 | c.285A>G (p.Ala95=) c.141A>G (p.Ala47=) n.565A>G | |
| 3 | g.50193400A>T | CA433860642 | GNAT1 | c.285A>T (p.Ala95=) c.141A>T (p.Ala47=) n.565A>T | |
| 3 | g.50193401C>A | CA352914045 | GNAT1 | c.286C>A (p.Arg96Ser) c.142C>A (p.Arg48Ser) n.566C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193401C= | CA1363836781 | GNAT1 | c.286C= (p.Arg96=) c.142C= (p.Arg48=) n.566C= | |
| 3 | g.50193401C>G | CA352914047 | GNAT1 | c.286C>G (p.Arg96Gly) c.142C>G (p.Arg48Gly) n.566C>G | |
| 3 | g.50193401C>T | CA352914051 | GNAT1 | c.286C>T (p.Arg96Cys) c.142C>T (p.Arg48Cys) n.566C>T | gnomAD v4 COSMIC |
| 3 | g.50193401_50193402insAGT | CA2756206778 | GNAT1 | c.286_287insAGT (p.Arg96delinsGlnCys) c.142_143insAGT (p.Arg48delinsGlnCys) n.566_567insAGT | |
| 3 | g.50193402G>A | CA2412499 | GNAT1 | c.287G>A (p.Arg96His) c.143G>A (p.Arg48His) n.567G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193402G>C | CA352914059 | GNAT1 | c.287G>C (p.Arg96Pro) c.143G>C (p.Arg48Pro) n.567G>C | |
| 3 | g.50193402G= | CA1363836782 | GNAT1 | c.287G= (p.Arg96=) c.143G= (p.Arg48=) n.567G= | |
| 3 | g.50193402G>T | CA352914065 | GNAT1 | c.287G>T (p.Arg96Leu) c.143G>T (p.Arg48Leu) n.567G>T | dbSNP gnomAD v4 |
| 3 | g.50193403C>A | CA433860646 | GNAT1 | c.288C>A (p.Arg96=) c.144C>A (p.Arg48=) n.568C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193403C= | CA1363836783 | GNAT1 | c.288C= (p.Arg96=) c.144C= (p.Arg48=) n.568C= | |
| 3 | g.50193403C>G | CA433860647 | GNAT1 | c.288C>G (p.Arg96=) c.144C>G (p.Arg48=) n.568C>G | |
| 3 | g.50193403C>T | CA433860648 | GNAT1 | c.288C>T (p.Arg96=) c.144C>T (p.Arg48=) n.568C>T | gnomAD v3 gnomAD v4 |
| 3 | g.50193404C>A | CA352914071 | GNAT1 | c.289C>A (p.Gln97Lys) c.145C>A (p.Gln49Lys) n.569C>A | |
| 3 | g.50193404C>G | CA352914073 | GNAT1 | c.289C>G (p.Gln97Glu) c.145C>G (p.Gln49Glu) n.569C>G | |
| 3 | g.50193404C>T | CA352914069 | GNAT1 | c.289C>T (p.Gln97Ter) c.145C>T (p.Gln49Ter) n.569C>T | |
| 3 | g.50193404_50193405insCAAACACACCCAACAC | CA2756206779 | GNAT1 | c.289_290insCAAACACACCCAACAC (p.Gln97ProfsTer?) c.145_146insCAAACACACCCAACAC (p.Gln49ProfsTer?) n.569_570insCAAACACACCCAACAC | |
| 3 | g.50193405A>C | CA352914076 | GNAT1 | c.290A>C (p.Gln97Pro) c.146A>C (p.Gln49Pro) n.570A>C | |
| 3 | g.50193405A>G | CA352914078 | GNAT1 | c.290A>G (p.Gln97Arg) c.146A>G (p.Gln49Arg) n.570A>G | |
| 3 | g.50193405A>T | CA352914081 | GNAT1 | c.290A>T (p.Gln97Leu) c.146A>T (p.Gln49Leu) n.570A>T | |
| 3 | g.50193406G>A | CA433860653 | GNAT1 | c.291G>A (p.Gln97=) c.147G>A (p.Gln49=) n.571G>A | |
| 3 | g.50193406G>C | CA352914085 | GNAT1 | c.291G>C (p.Gln97His) c.147G>C (p.Gln49His) n.571G>C | |
| 3 | g.50193406G>T | CA352914090 | GNAT1 | c.291G>T (p.Gln97His) c.147G>T (p.Gln49His) n.571G>T | |
| 3 | g.50193407G>A | CA2412500 | GNAT1 | c.291+1G>A (n.291+1G>A) c.147+1G>A (n.147+1G>A) n.571+1G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193407G>C | CA352914097 | GNAT1 | c.291+1G>C (n.291+1G>C) c.147+1G>C (n.147+1G>C) n.571+1G>C | |
| 3 | g.50193407G= | CA1363836784 | GNAT1 | c.291+1G= (n.291+1G=) c.147+1G= (n.147+1G=) n.571+1G= | |
| 3 | g.50193407G>T | CA352914102 | GNAT1 | c.291+1G>T (n.291+1G>T) c.147+1G>T (n.147+1G>T) n.571+1G>T | |
| 3 | g.50193408T>A | CA352914107 | GNAT1 | c.291+2T>A (n.291+2T>A) c.147+2T>A (n.147+2T>A) n.571+2T>A | gnomAD v4 |
| 3 | g.50193408T>C | CA352914113 | GNAT1 | c.291+2T>C (n.291+2T>C) c.147+2T>C (n.147+2T>C) n.571+2T>C | |
| 3 | g.50193408T>G | CA352914116 | GNAT1 | c.291+2T>G (n.291+2T>G) c.147+2T>G (n.147+2T>G) n.571+2T>G | gnomAD v4 |
| 3 | g.50193409G>A | CA2577853802 | GNAT1 | c.291+3G>A (n.291+3G>A) c.147+3G>A (n.147+3G>A) n.571+3G>A | gnomAD v4 |
| 3 | g.50193410_50193412delinsTGC | CA1363836785 | GNAT1 | c.291+4_291+6delinsTGC (n.291+4_291+6delinsTGC) c.147+4_147+6delinsTGC (n.147+4_147+6delinsTGC) n.571+4_571+6delinsTGC | |
| 3 | g.50193411G>T | CA2577853803 | GNAT1 | c.291+5G>T (n.291+5G>T) c.147+5G>T (n.147+5G>T) n.571+5G>T | |
| 3 | g.50193411_50193412del | CA543052623 | GNAT1 | c.291+5_291+6del (n.291+5_291+6del) c.147+5_147+6del (n.147+5_147+6del) n.571+5_571+6del | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193415_50193487del | CA2756206780 | GNAT1 | c.291+9_292-19del (n.291+9_292-19del) c.147+9_148-19del (n.147+9_148-19del) n.571+9_572-19del | |
| 3 | g.50193412C>A | CA2412501 | GNAT1 | c.291+6C>A (n.291+6C>A) c.147+6C>A (n.147+6C>A) n.571+6C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193412C= | CA1363836786 | GNAT1 | c.291+6C= (n.291+6C=) c.147+6C= (n.147+6C=) n.571+6C= | |
| 3 | g.50193412C>T | CA543052624 | GNAT1 | c.291+6C>T (n.291+6C>T) c.147+6C>T (n.147+6C>T) n.571+6C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193412_50193413insAGA | CA2756206782 | GNAT1 | c.291+6_291+7insAGA (n.291+6_291+7insAGA) c.147+6_147+7insAGA (n.147+6_147+7insAGA) n.571+6_571+7insAGA | |
| 3 | g.50193412_50193413insAGT | CA2756206781 | GNAT1 | c.291+6_291+7insAGT (n.291+6_291+7insAGT) c.147+6_147+7insAGT (n.147+6_147+7insAGT) n.571+6_571+7insAGT | |
| 3 | g.50193415G>A | CA2665815275 | GNAT1 | c.291+9G>A (n.291+9G>A) c.147+9G>A (n.147+9G>A) n.571+9G>A | gnomAD v4 |
| 3 | g.50193416G>A | CA1047807876 | GNAT1 | c.291+10G>A (n.291+10G>A) c.147+10G>A (n.147+10G>A) n.571+10G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193416G= | CA1363836787 | GNAT1 | c.291+10G= (n.291+10G=) c.147+10G= (n.147+10G=) n.571+10G= | |
| 3 | g.50193417A= | CA1363836788 | GNAT1 | c.291+11A= (n.291+11A=) c.147+11A= (n.147+11A=) n.571+11A= | |
| 3 | g.50193417A>C | CA2412502 | GNAT1 | c.291+11A>C (n.291+11A>C) c.147+11A>C (n.147+11A>C) n.571+11A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193418G>A | CA2573137205 | GNAT1 | c.291+12G>A (n.291+12G>A) c.147+12G>A (n.147+12G>A) n.571+12G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.50193420del | CA2573137206 | GNAT1 | c.291+14del (n.291+14del) c.147+14del (n.147+14del) n.571+14del | ClinVar dbSNP |
| 3 | g.50193420C>A | CA2412503 | GNAT1 | c.291+14C>A (n.291+14C>A) c.147+14C>A (n.147+14C>A) n.571+14C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193420C= | CA1363836789 | GNAT1 | c.291+14C= (n.291+14C=) c.147+14C= (n.147+14C=) n.571+14C= | |
| 3 | g.50193420C>G | CA543052625 | GNAT1 | c.291+14C>G (n.291+14C>G) c.147+14C>G (n.147+14C>G) n.571+14C>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193421G>A | CA2412504 | GNAT1 | c.291+15G>A (n.291+15G>A) c.147+15G>A (n.147+15G>A) n.571+15G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193421G= | CA1363836790 | GNAT1 | c.291+15G= (n.291+15G=) c.147+15G= (n.147+15G=) n.571+15G= | |
| 3 | g.50193421G>T | CA543052626 | GNAT1 | c.291+15G>T (n.291+15G>T) c.147+15G>T (n.147+15G>T) n.571+15G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193422G>A | CA2665815281 | GNAT1 | c.291+16G>A (n.291+16G>A) c.147+16G>A (n.147+16G>A) n.571+16G>A | gnomAD v4 |
| 3 | g.50193422G>C | CA2665815282 | GNAT1 | c.291+16G>C (n.291+16G>C) c.147+16G>C (n.147+16G>C) n.571+16G>C | gnomAD v4 |
| 3 | g.50193423G= | CA1363836791 | GNAT1 | c.291+17G= (n.291+17G=) c.147+17G= (n.147+17G=) n.571+17G= | |
| 3 | g.50193423G>T | CA907920560 | GNAT1 | c.291+17G>T (n.291+17G>T) c.147+17G>T (n.147+17G>T) n.571+17G>T | dbSNP |
| 3 | g.50193423_50193424insAGT | CA2756206783 | GNAT1 | c.291+17_291+18insAGT (n.291+17_291+18insAGT) c.147+17_147+18insAGT (n.147+17_147+18insAGT) n.571+17_571+18insAGT | |
| 3 | g.50193424C= | CA1363836792 | GNAT1 | c.291+18C= (n.291+18C=) c.147+18C= (n.147+18C=) n.571+18C= | |
| 3 | g.50193424C>G | CA543052627 | GNAT1 | c.291+18C>G (n.291+18C>G) c.147+18C>G (n.147+18C>G) n.571+18C>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193424C>T | CA543052628 | GNAT1 | c.291+18C>T (n.291+18C>T) c.147+18C>T (n.147+18C>T) n.571+18C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193425T>G | CA907920563 | GNAT1 | c.291+19T>G (n.291+19T>G) c.147+19T>G (n.147+19T>G) n.571+19T>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.50193425T= | CA1363836793 | GNAT1 | c.291+19T= (n.291+19T=) c.147+19T= (n.147+19T=) n.571+19T= | |
| 3 | g.50193428G>A | CA1363836795 | GNAT1 | c.291+22G>A (n.291+22G>A) c.147+22G>A (n.147+22G>A) n.571+22G>A | dbSNP |
| 3 | g.50193428G>C | CA74601131 | GNAT1 | c.291+22G>C (n.291+22G>C) c.147+22G>C (n.147+22G>C) n.571+22G>C | dbSNP |
| 3 | g.50193428G= | CA1363836794 | GNAT1 | c.291+22G= (n.291+22G=) c.147+22G= (n.147+22G=) n.571+22G= | |
| 3 | g.50193428dup | CA2756206784 | GNAT1 | c.291+22dup (n.291+22dup) c.147+22dup (n.147+22dup) n.571+22dup | |
| 3 | g.50193429C>A | CA543052629 | GNAT1 | c.291+23C>A (n.291+23C>A) c.147+23C>A (n.147+23C>A) n.571+23C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193429C= | CA1363836796 | GNAT1 | c.291+23C= (n.291+23C=) c.147+23C= (n.147+23C=) n.571+23C= | |
| 3 | g.50193429C>T | CA2665815283 | GNAT1 | c.291+23C>T (n.291+23C>T) c.147+23C>T (n.147+23C>T) n.571+23C>T | gnomAD v4 |
| 3 | g.50193430G>A | CA2665815284 | GNAT1 | c.291+24G>A (n.291+24G>A) c.147+24G>A (n.147+24G>A) n.571+24G>A | gnomAD v4 |
| 3 | g.50193430G>C | CA2412505 | GNAT1 | c.291+24G>C (n.291+24G>C) c.147+24G>C (n.147+24G>C) n.571+24G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193430G= | CA1363836797 | GNAT1 | c.291+24G= (n.291+24G=) c.147+24G= (n.147+24G=) n.571+24G= | |
| 3 | g.50193431G>A | CA2577853804 | GNAT1 | c.291+25G>A (n.291+25G>A) c.147+25G>A (n.147+25G>A) n.571+25G>A | gnomAD v4 |
| 3 | g.50193432G>A | CA907920576 | GNAT1 | c.291+26G>A (n.291+26G>A) c.147+26G>A (n.147+26G>A) n.571+26G>A | dbSNP gnomAD v4 |
| 3 | g.50193432G= | CA1363836798 | GNAT1 | c.291+26G= (n.291+26G=) c.147+26G= (n.147+26G=) n.571+26G= | |
| 3 | g.50193433C= | CA1363836799 | GNAT1 | c.291+27C= (n.291+27C=) c.147+27C= (n.147+27C=) n.571+27C= | |
| 3 | g.50193433C>T | CA543052630 | GNAT1 | c.291+27C>T (n.291+27C>T) c.147+27C>T (n.147+27C>T) n.571+27C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193434C= | CA1363836800 | GNAT1 | c.291+28C= (n.291+28C=) c.147+28C= (n.147+28C=) n.571+28C= | |
| 3 | g.50193434C>T | CA907920578 | GNAT1 | c.291+28C>T (n.291+28C>T) c.147+28C>T (n.147+28C>T) n.571+28C>T | dbSNP gnomAD v4 |
| 3 | g.50193435T>C | CA1363836802 | GNAT1 | c.291+29T>C (n.291+29T>C) c.147+29T>C (n.147+29T>C) n.571+29T>C | dbSNP |
| 3 | g.50193435T= | CA1363836801 | GNAT1 | c.291+29T= (n.291+29T=) c.147+29T= (n.147+29T=) n.571+29T= | |
| 3 | g.50193436_50193437insACTT | CA2756206785 | GNAT1 | c.291+30_291+31insACTT (n.291+30_291+31insACTT) c.147+30_147+31insACTT (n.147+30_147+31insACTT) n.571+30_571+31insACTT | |
| 3 | g.50193438G= | CA1363836803 | GNAT1 | c.291+32G= (n.291+32G=) c.147+32G= (n.147+32G=) n.571+32G= | |
| 3 | g.50193438G>T | CA543052631 | GNAT1 | c.291+32G>T (n.291+32G>T) c.147+32G>T (n.147+32G>T) n.571+32G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.50193441G>A | CA1363836805 | GNAT1 | c.291+35G>A (n.291+35G>A) c.147+35G>A (n.147+35G>A) n.571+35G>A | dbSNP gnomAD v4 |
| 3 | g.50193441G= | CA1363836804 | GNAT1 | c.291+35G= (n.291+35G=) c.147+35G= (n.147+35G=) n.571+35G= | |
| 3 | g.50193442A>G | CA2756206786 | GNAT1 | c.291+36A>G (n.291+36A>G) c.147+36A>G (n.147+36A>G) n.571+36A>G | |
| 3 | g.50193443C>T | CA2665815285 | GNAT1 | c.291+37C>T (n.291+37C>T) c.147+37C>T (n.147+37C>T) n.571+37C>T | gnomAD v4 |
| 3 | g.50193444T>C | CA2412506 | GNAT1 | c.291+38T>C (n.291+38T>C) c.147+38T>C (n.147+38T>C) n.571+38T>C | dbSNP ExAC gnomAD v2 |
| 3 | g.50193444T= | CA1363836806 | GNAT1 | c.291+38T= (n.291+38T=) c.147+38T= (n.147+38T=) n.571+38T= | |
| 3 | g.50193445C= | CA1363836807 | GNAT1 | c.291+39C= (n.291+39C=) c.147+39C= (n.147+39C=) n.571+39C= | |
| 3 | g.50193445C>G | CA74601144 | GNAT1 | c.291+39C>G (n.291+39C>G) c.147+39C>G (n.147+39C>G) n.571+39C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.50193445C>T | CA2665815286 | GNAT1 | c.291+39C>T (n.291+39C>T) c.147+39C>T (n.147+39C>T) n.571+39C>T | gnomAD v4 |
| 3 | g.50193446G>A | CA2412508 | GNAT1 | c.291+40G>A (n.291+40G>A) c.147+40G>A (n.147+40G>A) n.571+40G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193446G>C | CA2412507 | GNAT1 | c.291+40G>C (n.291+40G>C) c.147+40G>C (n.147+40G>C) n.571+40G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.50193446G= | CA1363836808 | GNAT1 | c.291+40G= (n.291+40G=) c.147+40G= (n.147+40G=) n.571+40G= | |
| 3 | g.50193447A>C | CA2665815287 | GNAT1 | c.291+41A>C (n.291+41A>C) c.147+41A>C (n.147+41A>C) n.571+41A>C | gnomAD v4 |
| 3 | g.50193448G>C | CA2665815288 | GNAT1 | c.291+42G>C (n.291+42G>C) c.147+42G>C (n.147+42G>C) n.571+42G>C | gnomAD v4 |
| 3 | g.50193449G>A | CA1363836810 | GNAT1 | c.291+43G>A (n.291+43G>A) c.147+43G>A (n.147+43G>A) n.571+43G>A | dbSNP gnomAD v4 |
| 3 | g.50193449G= | CA1363836809 | GNAT1 | c.291+43G= (n.291+43G=) c.147+43G= (n.147+43G=) n.571+43G= |