Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68812353C>T | CA13560687 | CPT1A | c.281+84G>A (n.281+84G>A) c.377+84G>A (n.377+84G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812354A>G | CA2614737985 | CPT1A | c.281+83T>C (n.281+83T>C) c.377+83T>C (n.377+83T>C) | gnomAD v4 |
11 | g.68812355A>G | CA679638642 | CPT1A | c.281+82T>C (n.281+82T>C) c.377+82T>C (n.377+82T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812356T>A | CA2574903513 | CPT1A | c.281+81A>T (n.281+81A>T) c.377+81A>T (n.377+81A>T) | dbSNP |
11 | g.68812357C>A | CA2792553865 | CPT1A | c.281+80G>T (n.281+80G>T) c.377+80G>T (n.377+80G>T) | |
11 | g.68812358A>G | CA2614737987 | CPT1A | c.281+79T>C (n.281+79T>C) c.377+79T>C (n.377+79T>C) | gnomAD v4 |
11 | g.68812358_68812361dup | CA2614737986 | CPT1A | c.281+76_281+79dup (n.281+76_281+79dup) c.377+76_377+79dup (n.377+76_377+79dup) | gnomAD v4 |
11 | g.68812359T>C | CA223400125 | CPT1A | c.281+78A>G (n.281+78A>G) c.377+78A>G (n.377+78A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812361A>C | CA223400132 | CPT1A | c.281+76T>G (n.281+76T>G) c.377+76T>G (n.377+76T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812362C>T | CA2614737988 | CPT1A | c.281+75G>A (n.281+75G>A) c.377+75G>A (n.377+75G>A) | gnomAD v4 |
11 | g.68812363A>C | CA2614737989 | CPT1A | c.281+74T>G (n.281+74T>G) c.377+74T>G (n.377+74T>G) | gnomAD v4 |
11 | g.68812367G>A | CA2614737990 | CPT1A | c.281+70C>T (n.281+70C>T) c.377+70C>T (n.377+70C>T) | gnomAD v4 |
11 | g.68812368A>G | CA679638644 | CPT1A | c.281+69T>C (n.281+69T>C) c.377+69T>C (n.377+69T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812372_68812373del | CA679638645 | CPT1A | c.281+67_281+68del (n.281+67_281+68del) c.377+67_377+68del (n.377+67_377+68del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812371A>G | CA679638646 | CPT1A | c.281+66T>C (n.281+66T>C) c.377+66T>C (n.377+66T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812371A>T | CA2574903514 | CPT1A | c.281+66T>A (n.281+66T>A) c.377+66T>A (n.377+66T>A) | |
11 | g.68812372G>A | CA2724296230 | CPT1A | c.281+65C>T (n.281+65C>T) c.377+65C>T (n.377+65C>T) | dbSNP |
11 | g.68812372G>T | CA2614737992 | CPT1A | c.281+65C>A (n.281+65C>A) c.377+65C>A (n.377+65C>A) | dbSNP gnomAD v4 |
11 | g.68812374C>A | CA2614737993 | CPT1A | c.281+63G>T (n.281+63G>T) c.377+63G>T (n.377+63G>T) | gnomAD v4 |
11 | g.68812374C>T | CA2574903515 | CPT1A | c.281+63G>A (n.281+63G>A) c.377+63G>A (n.377+63G>A) | |
11 | g.68812375A>G | CA2614737995 | CPT1A | c.281+62T>C (n.281+62T>C) c.377+62T>C (n.377+62T>C) | gnomAD v4 |
11 | g.68812376_68812377del | CA2614737994 | CPT1A | c.281+61_281+62del (n.281+61_281+62del) c.377+61_377+62del (n.377+61_377+62del) | gnomAD v4 |
11 | g.68812376T>A | CA679638647 | CPT1A | c.281+61A>T (n.281+61A>T) c.377+61A>T (n.377+61A>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812376T>C | CA2614737997 | CPT1A | c.281+61A>G (n.281+61A>G) c.377+61A>G (n.377+61A>G) | dbSNP gnomAD v4 |
11 | g.68812381del | CA2574903516 | CPT1A | c.281+60del (n.281+60del) c.377+60del (n.377+60del) | |
11 | g.68812378A>T | CA939184353 | CPT1A | c.281+59T>A (n.281+59T>A) c.377+59T>A (n.377+59T>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812379A>C | CA223400137 | CPT1A | c.281+58T>G (n.281+58T>G) c.377+58T>G (n.377+58T>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812382C>T | CA2724563713 | CPT1A | c.281+55G>A (n.281+55G>A) c.377+55G>A (n.377+55G>A) | dbSNP |
11 | g.68812384G>A | CA2614738000 | CPT1A | c.281+53C>T (n.281+53C>T) c.377+53C>T (n.377+53C>T) | gnomAD v4 |
11 | g.68812384G>T | CA2614738001 | CPT1A | c.281+53C>A (n.281+53C>A) c.377+53C>A (n.377+53C>A) | gnomAD v4 |
11 | g.68812385C>G | CA2574903517 | CPT1A | c.281+52G>C (n.281+52G>C) c.377+52G>C (n.377+52G>C) | |
11 | g.68812387A>G | CA2724296236 | CPT1A | c.281+50T>C (n.281+50T>C) c.377+50T>C (n.377+50T>C) | dbSNP |
11 | g.68812393T>A | CA939184354 | CPT1A | c.281+44A>T (n.281+44A>T) c.377+44A>T (n.377+44A>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812393T>C | CA599992758 | CPT1A | c.281+44A>G (n.281+44A>G) c.377+44A>G (n.377+44A>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68812394C>A | CA939184357 | CPT1A | c.281+43G>T (n.281+43G>T) c.377+43G>T (n.377+43G>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812394C>G | CA2792553866 | CPT1A | c.281+43G>C (n.281+43G>C) c.377+43G>C (n.377+43G>C) | |
11 | g.68812394C>T | CA223400145 | CPT1A | c.281+43G>A (n.281+43G>A) c.377+43G>A (n.377+43G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68812395G>A | CA599992759 | CPT1A | c.281+42C>T (n.281+42C>T) c.377+42C>T (n.377+42C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812396G>A | CA2574903518 | CPT1A | c.281+41C>T (n.281+41C>T) c.377+41C>T (n.377+41C>T) | dbSNP gnomAD v4 |
11 | g.68812396G>T | CA2614738009 | CPT1A | c.281+41C>A (n.281+41C>A) c.377+41C>A (n.377+41C>A) | gnomAD v4 |
11 | g.68812397dup | CA6152723 | CPT1A | c.281+40dup (n.281+40dup) c.377+40dup (n.377+40dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812398A>G | CA2614738012 | CPT1A | c.281+39T>C (n.281+39T>C) c.377+39T>C (n.377+39T>C) | gnomAD v4 |
11 | g.68812400C>T | CA2724296237 | CPT1A | c.281+37G>A (n.281+37G>A) c.377+37G>A (n.377+37G>A) | dbSNP |
11 | g.68812401T>C | CA6152724 | CPT1A | c.281+36A>G (n.281+36A>G) c.377+36A>G (n.377+36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812405del | CA2614738014 | CPT1A | c.281+34del (n.281+34del) c.377+34del (n.377+34del) | gnomAD v4 |
11 | g.68812405C>T | CA2724296240 | CPT1A | c.281+32G>A (n.281+32G>A) c.377+32G>A (n.377+32G>A) | dbSNP |
11 | g.68812406A>G | CA939184363 | CPT1A | c.281+31T>C (n.281+31T>C) c.377+31T>C (n.377+31T>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812407G>A | CA2614738015 | CPT1A | c.281+30C>T (n.281+30C>T) c.377+30C>T (n.377+30C>T) | gnomAD v4 |
11 | g.68812409C>T | CA2724296245 | CPT1A | c.281+28G>A (n.281+28G>A) c.377+28G>A (n.377+28G>A) | dbSNP |
11 | g.68812412T>A | CA6152726 | CPT1A | c.281+25A>T (n.281+25A>T) c.377+25A>T (n.377+25A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68812412T>C | CA6152725 | CPT1A | c.281+25A>G (n.281+25A>G) c.377+25A>G (n.377+25A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812413T>A | CA2614738025 | CPT1A | c.281+24A>T (n.281+24A>T) c.377+24A>T (n.377+24A>T) | gnomAD v4 |
11 | g.68812413T>C | CA939184367 | CPT1A | c.281+24A>G (n.281+24A>G) c.377+24A>G (n.377+24A>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68812413T>G | CA679638650 | CPT1A | c.281+24A>C (n.281+24A>C) c.377+24A>C (n.377+24A>C) | dbSNP |
11 | g.68812415G>T | CA6152727 | CPT1A | c.281+22C>A (n.281+22C>A) c.377+22C>A (n.377+22C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812415_68812418dup | CA2614738029 | CPT1A | c.281+19_281+22dup (n.281+19_281+22dup) c.377+19_377+22dup (n.377+19_377+22dup) | gnomAD v4 |
11 | g.68812416A>C | CA6152728 | CPT1A | c.281+21T>G (n.281+21T>G) c.377+21T>G (n.377+21T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812424C>T | CA2580084763 | CPT1A | c.281+13G>A (n.281+13G>A) c.377+13G>A (n.377+13G>A) | ClinVar gnomAD v4 |
11 | g.68812428A>C | CA2614738044 | CPT1A | c.281+9T>G (n.281+9T>G) c.377+9T>G (n.377+9T>G) | gnomAD v4 |
11 | g.68812429T>G | CA2697548805 | CPT1A | c.281+8A>C (n.281+8A>C) c.377+8A>C (n.377+8A>C) | ClinVar |
11 | g.68812430T>A | CA2739270632 | CPT1A | c.281+7A>T (n.281+7A>T) c.377+7A>T (n.377+7A>T) | ClinVar |
11 | g.68812431A>G | CA599992765 | CPT1A | c.281+6T>C (n.281+6T>C) c.377+6T>C (n.377+6T>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68812432C>T | CA6152729 | CPT1A | c.281+5G>A (n.281+5G>A) c.377+5G>A (n.377+5G>A) | dbSNP ExAC |
11 | g.68812435A>C | CA381637697 | CPT1A | c.281+2T>G (n.281+2T>G) c.377+2T>G (n.377+2T>G) | |
11 | g.68812435A>G | CA381637699 | CPT1A | c.281+2T>C (n.281+2T>C) c.377+2T>C (n.377+2T>C) | |
11 | g.68812435A>T | CA381637701 | CPT1A | c.281+2T>A (n.281+2T>A) c.377+2T>A (n.377+2T>A) | |
11 | g.68812436C>A | CA381637704 | CPT1A | c.281+1G>T (n.281+1G>T) c.377+1G>T (n.377+1G>T) | ClinVar |
11 | g.68812436C>G | CA381637707 | CPT1A | c.281+1G>C (n.281+1G>C) c.377+1G>C (n.377+1G>C) | |
11 | g.68812436C>T | CA221858 | CPT1A | c.281+1G>A (n.281+1G>A) c.377+1G>A (n.377+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812437G>A | CA6152730 | CPT1A | c.281C>T (p.Ala94Val) c.377C>T (p.Ala126Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.68812437G>C | CA381637711 | CPT1A | c.281C>G (p.Ala94Gly) c.377C>G (p.Ala126Gly) | |
11 | g.68812437G>T | CA381637713 | CPT1A | c.281C>A (p.Ala94Asp) c.377C>A (p.Ala126Asp) | |
11 | g.68812438C>A | CA381637716 | CPT1A | c.280G>T (p.Ala94Ser) c.280G>T c.376G>T (p.Ala126Ser) | |
11 | g.68812438C>G | CA381637718 | CPT1A | c.280G>C (p.Ala94Pro) c.280G>C c.376G>C (p.Ala126Pro) | |
11 | g.68812438C>T | CA381637720 | CPT1A | c.280G>A (p.Ala94Thr) c.280G>A c.376G>A (p.Ala126Thr) | dbSNP |
11 | g.68812439C>A | CA475207487 | CPT1A | c.279G>T (p.Thr93=) c.375G>T (p.Thr125=) | ClinVar dbSNP gnomAD v4 |
11 | g.68812439C>G | CA475207488 | CPT1A | c.279G>C (p.Thr93=) c.375G>C (p.Thr125=) | |
11 | g.68812439C>T | CA6152731 | CPT1A | c.279G>A (p.Thr93=) c.375G>A (p.Thr125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812440G>A | CA6152732 | CPT1A | c.278C>T (p.Thr93Met) c.374C>T (p.Thr125Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.68812440G>C | CA381637725 | CPT1A | c.278C>G (p.Thr93Arg) c.374C>G (p.Thr125Arg) | |
11 | g.68812440G>T | CA381637728 | CPT1A | c.278C>A (p.Thr93Lys) c.374C>A (p.Thr125Lys) | |
11 | g.68812441T>A | CA381637733 | CPT1A | c.277A>T (p.Thr93Ser) c.373A>T (p.Thr125Ser) | |
11 | g.68812441T>C | CA381637735 | CPT1A | c.277A>G (p.Thr93Ala) c.373A>G (p.Thr125Ala) | |
11 | g.68812441T>G | CA381637737 | CPT1A | c.277A>C (p.Thr93Pro) c.373A>C (p.Thr125Pro) | ClinVar dbSNP |
11 | g.68812442T>A | CA381637740 | CPT1A | c.276A>T (p.Glu92Asp) c.372A>T (p.Glu124Asp) | |
11 | g.68812442T>C | CA475207489 | CPT1A | c.276A>G (p.Glu92=) c.372A>G (p.Glu124=) | |
11 | g.68812442T>G | CA381637742 | CPT1A | c.276A>C (p.Glu92Asp) c.372A>C (p.Glu124Asp) | |
11 | g.68812443T>A | CA381637744 | CPT1A | c.275A>T (p.Glu92Val) c.371A>T (p.Glu124Val) | |
11 | g.68812443T>C | CA381637747 | CPT1A | c.275A>G (p.Glu92Gly) c.371A>G (p.Glu124Gly) | |
11 | g.68812443T>G | CA381637749 | CPT1A | c.275A>C (p.Glu92Ala) c.371A>C (p.Glu124Ala) | |
11 | g.68812444C>A | CA381637752 | CPT1A | c.274G>T (p.Glu92Ter) c.370G>T (p.Glu124Ter) | |
11 | g.68812444C>G | CA381637753 | CPT1A | c.274G>C (p.Glu92Gln) c.370G>C (p.Glu124Gln) | |
11 | g.68812444C>T | CA381637755 | CPT1A | c.274G>A (p.Glu92Lys) c.370G>A (p.Glu124Lys) | |
11 | g.68812445C>A | CA475207490 | CPT1A | c.273G>T (p.Leu91=) c.369G>T (p.Leu123=) | |
11 | g.68812445C>G | CA475207491 | CPT1A | c.273G>C (p.Leu91=) c.369G>C (p.Leu123=) | |
11 | g.68812445C>T | CA475207492 | CPT1A | c.273G>A (p.Leu91=) c.369G>A (p.Leu123=) | |
11 | g.68812446A>C | CA381637763 | CPT1A | c.272T>G (p.Leu91Arg) c.368T>G (p.Leu123Arg) | |
11 | g.68812446A>G | CA381637761 | CPT1A | c.272T>C (p.Leu91Pro) c.368T>C (p.Leu123Pro) | |
11 | g.68812446A>T | CA381637758 | CPT1A | c.272T>A (p.Leu91Gln) c.368T>A (p.Leu123Gln) | |
11 | g.68812447G>A | CA475207493 | CPT1A | c.271C>T (p.Leu91=) c.367C>T (p.Leu123=) | |
11 | g.68812447G>C | CA381637766 | CPT1A | c.271C>G (p.Leu91Val) c.367C>G (p.Leu123Val) | |
11 | g.68812447G>T | CA381637768 | CPT1A | c.271C>A (p.Leu91Met) c.367C>A (p.Leu123Met) | |
11 | g.68812448A>C | CA475207494 | CPT1A | c.270T>G (p.Thr90=) c.366T>G (p.Thr122=) | |
11 | g.68812448A>G | CA475207495 | CPT1A | c.270T>C (p.Thr90=) c.366T>C (p.Thr122=) | dbSNP |
11 | g.68812448A>T | CA475207496 | CPT1A | c.270T>A (p.Thr90=) c.366T>A (p.Thr122=) | |
11 | g.68812449G>A | CA381637772 | CPT1A | c.269C>T (p.Thr90Ile) c.365C>T (p.Thr122Ile) | |
11 | g.68812449G>C | CA381637774 | CPT1A | c.269C>G (p.Thr90Ser) c.365C>G (p.Thr122Ser) | |
11 | g.68812449G>T | CA381637776 | CPT1A | c.269C>A (p.Thr90Asn) c.365C>A (p.Thr122Asn) | |
11 | g.68812450T>A | CA381637780 | CPT1A | c.268A>T (p.Thr90Ser) c.364A>T (p.Thr122Ser) | |
11 | g.68812450T>C | CA381637781 | CPT1A | c.268A>G (p.Thr90Ala) c.364A>G (p.Thr122Ala) | |
11 | g.68812450T>G | CA381637784 | CPT1A | c.268A>C (p.Thr90Pro) c.364A>C (p.Thr122Pro) | |
11 | g.68812451C>A | CA475207499 | CPT1A | c.267G>T (p.Arg89=) c.363G>T (p.Arg121=) | |
11 | g.68812451C>G | CA475207497 | CPT1A | c.267G>C (p.Arg89=) c.363G>C (p.Arg121=) | dbSNP |
11 | g.68812451C>T | CA475207498 | CPT1A | c.267G>A (p.Arg89=) c.363G>A (p.Arg121=) | |
11 | g.68812452C>A | CA381637786 | CPT1A | c.266G>T (p.Arg89Leu) c.362G>T (p.Arg121Leu) | |
11 | g.68812452C>G | CA381637790 | CPT1A | c.266G>C (p.Arg89Pro) c.362G>C (p.Arg121Pro) | COSMIC COSMIC |
11 | g.68812452C>T | CA6152733 | CPT1A | c.266G>A (p.Arg89Gln) c.362G>A (p.Arg121Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812453G>A | CA6152734 | CPT1A | c.265C>T (p.Arg89Trp) c.361C>T (p.Arg121Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68812453G>C | CA381637793 | CPT1A | c.265C>G (p.Arg89Gly) c.361C>G (p.Arg121Gly) | dbSNP |
11 | g.68812453G>T | CA475207500 | CPT1A | c.265C>A (p.Arg89=) c.361C>A (p.Arg121=) |