UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.71758137_71758139dup | CA99066733 | GC | c.737_739dup (p.Ala246_Asp247insAla) n.621_623dup c.794_796dup (p.Ala265_Asp266insAla) | dbSNP |
| 4 | g.71758137_71758139del | CA2955601 | GC | c.737_739del (p.Ala246del) n.621_623del c.794_796del (p.Ala265del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758137C>A | CA357205585 | GC | c.736G>T (p.Ala246Ser) n.620G>T c.793G>T (p.Ala265Ser) | |
| 4 | g.71758137C= | CA1467373807 | GC | c.736G= (p.Ala246=) n.620G= c.793G= (p.Ala265=) | |
| 4 | g.71758137C>G | CA357205589 | GC | c.736G>C (p.Ala246Pro) n.620G>C c.793G>C (p.Ala265Pro) | |
| 4 | g.71758137C>T | CA2955602 | GC | c.736G>A (p.Ala246Thr) n.620G>A c.793G>A (p.Ala265Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758138A>C | CA439796059 | GC | c.735T>G (p.Thr245=) n.619T>G c.792T>G (p.Thr264=) | gnomAD v4 |
| 4 | g.71758138A>G | CA439796060 | GC | c.735T>C (p.Thr245=) n.619T>C c.792T>C (p.Thr264=) | |
| 4 | g.71758138A>T | CA439796061 | GC | c.735T>A (p.Thr245=) n.619T>A c.792T>A (p.Thr264=) | |
| 4 | g.71758139G>A | CA357205590 | GC | c.734C>T (p.Thr245Ile) n.618C>T c.791C>T (p.Thr264Ile) | dbSNP gnomAD v4 |
| 4 | g.71758139G>C | CA357205593 | GC | c.734C>G (p.Thr245Ser) n.618C>G c.791C>G (p.Thr264Ser) | |
| 4 | g.71758139G= | CA1467373808 | GC | c.734C= (p.Thr245=) n.618C= c.791C= (p.Thr264=) | |
| 4 | g.71758139G>T | CA357205592 | GC | c.734C>A (p.Thr245Asn) n.618C>A c.791C>A (p.Thr264Asn) | gnomAD v4 |
| 4 | g.71758140T>A | CA357205595 | GC | c.733A>T (p.Thr245Ser) n.617A>T c.790A>T (p.Thr264Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.71758140T>C | CA357205597 | GC | c.733A>G (p.Thr245Ala) n.617A>G c.790A>G (p.Thr264Ala) | |
| 4 | g.71758140T>G | CA357205600 | GC | c.733A>C (p.Thr245Pro) n.617A>C c.790A>C (p.Thr264Pro) | |
| 4 | g.71758140T= | CA1467373809 | GC | c.733A= (p.Thr245=) n.617A= c.790A= (p.Thr264=) | |
| 4 | g.71758141A= | CA1467373810 | GC | c.732T= (p.Pro244=) n.616T= c.789T= (p.Pro263=) | |
| 4 | g.71758141A>C | CA439796068 | GC | c.732T>G (p.Pro244=) n.616T>G c.789T>G (p.Pro263=) | |
| 4 | g.71758141A>G | CA439796065 | GC | c.732T>C (p.Pro244=) n.616T>C c.789T>C (p.Pro263=) | |
| 4 | g.71758141A>T | CA439796066 | GC | c.732T>A (p.Pro244=) n.616T>A c.789T>A (p.Pro263=) | dbSNP gnomAD v2 |
| 4 | g.71758142G>A | CA357205602 | GC | c.731C>T (p.Pro244Leu) n.615C>T c.788C>T (p.Pro263Leu) | |
| 4 | g.71758142G>C | CA2955603 | GC | c.731C>G (p.Pro244Arg) n.615C>G c.788C>G (p.Pro263Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71758142G= | CA1467373811 | GC | c.731C= (p.Pro244=) n.615C= c.788C= (p.Pro263=) | |
| 4 | g.71758142G>T | CA357205610 | GC | c.731C>A (p.Pro244His) n.615C>A c.788C>A (p.Pro263His) | |
| 4 | g.71758143G>A | CA357205612 | GC | c.730C>T (p.Pro244Ser) n.614C>T c.787C>T (p.Pro263Ser) | COSMIC COSMIC |
| 4 | g.71758143G>C | CA357205615 | GC | c.730C>G (p.Pro244Ala) n.614C>G c.787C>G (p.Pro263Ala) | gnomAD v4 |
| 4 | g.71758143G= | CA1467373812 | GC | c.730C= (p.Pro244=) n.614C= c.787C= (p.Pro263=) | |
| 4 | g.71758143G>T | CA357205616 | GC | c.730C>A (p.Pro244Thr) n.614C>A c.787C>A (p.Pro263Thr) | dbSNP |
| 4 | g.71758144C>A | CA439796072 | GC | c.729G>T (p.Val243=) n.613G>T c.786G>T (p.Val262=) | |
| 4 | g.71758144C>G | CA439796073 | GC | c.729G>C (p.Val243=) n.613G>C c.786G>C (p.Val262=) | |
| 4 | g.71758144C>T | CA439796074 | GC | c.729G>A (p.Val243=) n.613G>A c.786G>A (p.Val262=) | |
| 4 | g.71758145A>C | CA357205619 | GC | c.728T>G (p.Val243Gly) n.612T>G c.785T>G (p.Val262Gly) | |
| 4 | g.71758145A>G | CA357205622 | GC | c.728T>C (p.Val243Ala) n.612T>C c.785T>C (p.Val262Ala) | gnomAD v4 |
| 4 | g.71758145A>T | CA357205624 | GC | c.728T>A (p.Val243Glu) n.612T>A c.785T>A (p.Val262Glu) | |
| 4 | g.71758146C>A | CA357205627 | GC | c.727G>T (p.Val243Leu) n.611G>T c.784G>T (p.Val262Leu) | gnomAD v4 |
| 4 | g.71758146C= | CA1467373814 | GC | c.727G= (p.Val243=) n.611G= c.784G= (p.Val262=) | |
| 4 | g.71758146C>G | CA2955604 | GC | c.727G>C (p.Val243Leu) n.611G>C c.784G>C (p.Val262Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758146C>T | CA357205630 | GC | c.727G>A (p.Val243Met) n.611G>A c.784G>A (p.Val262Met) | |
| 4 | g.71758146_71758147delinsCT | CA1467373813 | GC | c.726_727delinsAG (p.Lys242=) n.610_611delinsAG c.783_784delinsAG (p.Lys261=) | |
| 4 | g.71758147T>A | CA357205634 | GC | c.726A>T (p.Lys242Asn) n.610A>T c.783A>T (p.Lys261Asn) | |
| 4 | g.71758147T>C | CA439796076 | GC | c.726A>G (p.Lys242=) n.610A>G c.783A>G (p.Lys261=) | |
| 4 | g.71758147T>G | CA357205636 | GC | c.726A>C (p.Lys242Asn) n.610A>C c.783A>C (p.Lys261Asn) | |
| 4 | g.71758151del | CA552290327 | GC | c.726del (p.Val243CysfsTer12) n.610del c.783del (p.Val262CysfsTer12) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.71758148T>A | CA357205639 | GC | c.725A>T (p.Lys242Ile) n.609A>T c.782A>T (p.Lys261Ile) | |
| 4 | g.71758148T>C | CA357205641 | GC | c.725A>G (p.Lys242Arg) n.609A>G c.782A>G (p.Lys261Arg) | |
| 4 | g.71758148T>G | CA357205644 | GC | c.725A>C (p.Lys242Thr) n.609A>C c.782A>C (p.Lys261Thr) | COSMIC |
| 4 | g.71758149T>A | CA357205645 | GC | c.724A>T (p.Lys242Ter) n.608A>T c.781A>T (p.Lys261Ter) | |
| 4 | g.71758149T>C | CA357205648 | GC | c.724A>G (p.Lys242Glu) n.608A>G c.781A>G (p.Lys261Glu) | dbSNP gnomAD v4 |
| 4 | g.71758149T>G | CA357205651 | GC | c.724A>C (p.Lys242Gln) n.608A>C c.781A>C (p.Lys261Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71758149T= | CA1467373815 | GC | c.724A= (p.Lys242=) n.608A= c.781A= (p.Lys261=) | |
| 4 | g.71758150T>A | CA357205652 | GC | c.723A>T (p.Gln241His) n.607A>T c.780A>T (p.Gln260His) | |
| 4 | g.71758150T>C | CA439796080 | GC | c.723A>G (p.Gln241=) n.607A>G c.780A>G (p.Gln260=) | gnomAD v4 COSMIC COSMIC |
| 4 | g.71758150T>G | CA357205654 | GC | c.723A>C (p.Gln241His) n.607A>C c.780A>C (p.Gln260His) | |
| 4 | g.71758151T>A | CA357205657 | GC | c.722A>T (p.Gln241Leu) n.606A>T c.779A>T (p.Gln260Leu) | |
| 4 | g.71758151T>C | CA357205659 | GC | c.722A>G (p.Gln241Arg) n.606A>G c.779A>G (p.Gln260Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71758151T>G | CA357205655 | GC | c.722A>C (p.Gln241Pro) n.606A>C c.779A>C (p.Gln260Pro) | gnomAD v4 |
| 4 | g.71758151T= | CA1467373816 | GC | c.722A= (p.Gln241=) n.606A= c.779A= (p.Gln260=) | |
| 4 | g.71758152G>A | CA357205662 | GC | c.721C>T (p.Gln241Ter) n.605C>T c.778C>T (p.Gln260Ter) | |
| 4 | g.71758152G>C | CA357205663 | GC | c.721C>G (p.Gln241Glu) n.605C>G c.778C>G (p.Gln260Glu) | |
| 4 | g.71758152G>T | CA357205664 | GC | c.721C>A (p.Gln241Lys) n.605C>A c.778C>A (p.Gln260Lys) | |
| 4 | g.71758154del | CA2670942126 | GC | c.721del (p.Gln241LysfsTer14) n.605del c.778del (p.Gln260LysfsTer14) | gnomAD v4 |
| 4 | g.71758153G>A | CA439796084 | GC | c.720C>T (p.Ala240=) n.604C>T c.777C>T (p.Ala259=) | gnomAD v4 |
| 4 | g.71758153G>C | CA439796086 | GC | c.720C>G (p.Ala240=) n.604C>G c.777C>G (p.Ala259=) | |
| 4 | g.71758153G>T | CA439796088 | GC | c.720C>A (p.Ala240=) n.604C>A c.777C>A (p.Ala259=) | |
| 4 | g.71758154_71758171del | CA2670942127 | GC | c.703_720del (p.Asn235_Ala240del) n.587_604del c.760_777del (p.Asn254_Ala259del) | gnomAD v4 |
| 4 | g.71758154G>A | CA357205666 | GC | c.719C>T (p.Ala240Val) n.603C>T c.776C>T (p.Ala259Val) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71758154G>C | CA357205668 | GC | c.719C>G (p.Ala240Gly) n.603C>G c.776C>G (p.Ala259Gly) | gnomAD v4 |
| 4 | g.71758154G= | CA1467373817 | GC | c.719C= (p.Ala240=) n.603C= c.776C= (p.Ala259=) | |
| 4 | g.71758154G>T | CA357205670 | GC | c.719C>A (p.Ala240Asp) n.603C>A c.776C>A (p.Ala259Asp) | |
| 4 | g.71758155C>A | CA357205673 | GC | c.718G>T (p.Ala240Ser) n.602G>T c.775G>T (p.Ala259Ser) | |
| 4 | g.71758155C>G | CA357205676 | GC | c.718G>C (p.Ala240Pro) n.602G>C c.775G>C (p.Ala259Pro) | |
| 4 | g.71758155C>T | CA357205679 | GC | c.718G>A (p.Ala240Thr) n.602G>A c.775G>A (p.Ala259Thr) | |
| 4 | g.71758156T>A | CA357205682 | GC | c.717A>T (p.Leu239Phe) n.601A>T c.774A>T (p.Leu258Phe) | |
| 4 | g.71758156T>C | CA439796093 | GC | c.717A>G (p.Leu239=) n.601A>G c.774A>G (p.Leu258=) | |
| 4 | g.71758156T>G | CA357205683 | GC | c.717A>C (p.Leu239Phe) n.601A>C c.774A>C (p.Leu258Phe) | |
| 4 | g.71758157A>C | CA357205687 | GC | c.716T>G (p.Leu239Ter) n.600T>G c.773T>G (p.Leu258Ter) | |
| 4 | g.71758157A>G | CA357205688 | GC | c.716T>C (p.Leu239Ser) n.600T>C c.773T>C (p.Leu258Ser) | gnomAD v4 |
| 4 | g.71758157A>T | CA357205690 | GC | c.716T>A (p.Leu239Ter) n.600T>A c.773T>A (p.Leu258Ter) | |
| 4 | g.71758158A>C | CA357205692 | GC | c.715T>G (p.Leu239Val) n.599T>G c.772T>G (p.Leu258Val) | |
| 4 | g.71758158A>G | CA439796097 | GC | c.715T>C (p.Leu239=) n.599T>C c.772T>C (p.Leu258=) | |
| 4 | g.71758158A>T | CA357205694 | GC | c.715T>A (p.Leu239Ile) n.599T>A c.772T>A (p.Leu258Ile) | |
| 4 | g.71758159C>A | CA357205696 | GC | c.714G>T (p.Lys238Asn) n.598G>T c.771G>T (p.Lys257Asn) | |
| 4 | g.71758159C= | CA1467373818 | GC | c.714G= (p.Lys238=) n.598G= c.771G= (p.Lys257=) | |
| 4 | g.71758159C>G | CA357205698 | GC | c.714G>C (p.Lys238Asn) n.598G>C c.771G>C (p.Lys257Asn) | |
| 4 | g.71758159C>T | CA2955605 | GC | c.714G>A (p.Lys238=) n.598G>A c.771G>A (p.Lys257=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71758160T>A | CA357205700 | GC | c.713A>T (p.Lys238Met) n.597A>T c.770A>T (p.Lys257Met) | |
| 4 | g.71758160T>C | CA357205702 | GC | c.713A>G (p.Lys238Arg) n.597A>G c.770A>G (p.Lys257Arg) | |
| 4 | g.71758160T>G | CA357205706 | GC | c.713A>C (p.Lys238Thr) n.597A>C c.770A>C (p.Lys257Thr) | |
| 4 | g.71758161T>A | CA357205708 | GC | c.712A>T (p.Lys238Ter) n.596A>T c.769A>T (p.Lys257Ter) | |
| 4 | g.71758161T>C | CA357205710 | GC | c.712A>G (p.Lys238Glu) n.596A>G c.769A>G (p.Lys257Glu) | |
| 4 | g.71758161T>G | CA357205711 | GC | c.712A>C (p.Lys238Gln) n.596A>C c.769A>C (p.Lys257Gln) | |
| 4 | g.71758162T>A | CA439796104 | GC | c.711A>T (p.Ile237=) n.595A>T c.768A>T (p.Ile256=) | |
| 4 | g.71758162T>C | CA357205714 | GC | c.711A>G (p.Ile237Met) n.595A>G c.768A>G (p.Ile256Met) | |
| 4 | g.71758162T>G | CA439796106 | GC | c.711A>C (p.Ile237=) n.595A>C c.768A>C (p.Ile256=) | |
| 4 | g.71758163A= | CA1467373819 | GC | c.710T= (p.Ile237=) n.594T= c.767T= (p.Ile256=) | |
| 4 | g.71758163A>C | CA357205716 | GC | c.710T>G (p.Ile237Arg) n.594T>G c.767T>G (p.Ile256Arg) | |
| 4 | g.71758163A>G | CA2955606 | GC | c.710T>C (p.Ile237Thr) n.594T>C c.767T>C (p.Ile256Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758163A>T | CA357205719 | GC | c.710T>A (p.Ile237Lys) n.594T>A c.767T>A (p.Ile256Lys) | |
| 4 | g.71758164T>A | CA357205722 | GC | c.709A>T (p.Ile237Leu) n.593A>T c.766A>T (p.Ile256Leu) | |
| 4 | g.71758164T>C | CA357205727 | GC | c.709A>G (p.Ile237Val) n.593A>G c.766A>G (p.Ile256Val) | |
| 4 | g.71758164T>G | CA357205724 | GC | c.709A>C (p.Ile237Leu) n.593A>C c.766A>C (p.Ile256Leu) | gnomAD v4 |
| 4 | g.71758165G>A | CA439796110 | GC | c.708C>T (p.Leu236=) n.592C>T c.765C>T (p.Leu255=) | gnomAD v4 |
| 4 | g.71758165G>C | CA439796112 | GC | c.708C>G (p.Leu236=) n.592C>G c.765C>G (p.Leu255=) | |
| 4 | g.71758165G>T | CA439796113 | GC | c.708C>A (p.Leu236=) n.592C>A c.765C>A (p.Leu255=) | gnomAD v4 |
| 4 | g.71758166A>C | CA357205732 | GC | c.707T>G (p.Leu236Arg) n.591T>G c.764T>G (p.Leu255Arg) | |
| 4 | g.71758166A>G | CA357205735 | GC | c.707T>C (p.Leu236Pro) n.591T>C c.764T>C (p.Leu255Pro) | dbSNP |
| 4 | g.71758166A>T | CA357205733 | GC | c.707T>A (p.Leu236His) n.591T>A c.764T>A (p.Leu255His) | |
| 4 | g.71758167G>A | CA357205737 | GC | c.706C>T (p.Leu236Phe) n.590C>T c.763C>T (p.Leu255Phe) | gnomAD v4 |
| 4 | g.71758167G>C | CA357205739 | GC | c.706C>G (p.Leu236Val) n.590C>G c.763C>G (p.Leu255Val) | gnomAD v4 |
| 4 | g.71758167G>T | CA357205738 | GC | c.706C>A (p.Leu236Ile) n.590C>A c.763C>A (p.Leu255Ile) | COSMIC COSMIC |
| 4 | g.71758168A>C | CA357205741 | GC | c.705T>G (p.Asn235Lys) n.589T>G c.762T>G (p.Asn254Lys) | |
| 4 | g.71758168A>G | CA439796116 | GC | c.705T>C (p.Asn235=) n.589T>C c.762T>C (p.Asn254=) | |
| 4 | g.71758168A>T | CA357205744 | GC | c.705T>A (p.Asn235Lys) n.589T>A c.762T>A (p.Asn254Lys) | |
| 4 | g.71758169T>A | CA357205747 | GC | c.704A>T (p.Asn235Ile) n.588A>T c.761A>T (p.Asn254Ile) | |
| 4 | g.71758169T>C | CA2955607 | GC | c.704A>G (p.Asn235Ser) n.588A>G c.761A>G (p.Asn254Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71758169T>G | CA357205749 | GC | c.704A>C (p.Asn235Thr) n.588A>C c.761A>C (p.Asn254Thr) | |
| 4 | g.71758169T= | CA1467373820 | GC | c.704A= (p.Asn235=) n.588A= c.761A= (p.Asn254=) | |
| 4 | g.71758170T>A | CA357205751 | GC | c.703A>T (p.Asn235Tyr) n.587A>T c.760A>T (p.Asn254Tyr) | |
| 4 | g.71758170T>C | CA357205754 | GC | c.703A>G (p.Asn235Asp) n.587A>G c.760A>G (p.Asn254Asp) | |
| 4 | g.71758170T>G | CA357205755 | GC | c.703A>C (p.Asn235His) n.587A>C c.760A>C (p.Asn254His) | dbSNP |
| 4 | g.71758170T= | CA1467373821 | GC | c.703A= (p.Asn235=) n.587A= c.760A= (p.Asn254=) | |
| 4 | g.71758171G>A | CA439796123 | GC | c.702C>T (p.Ser234=) n.586C>T c.759C>T (p.Ser253=) | gnomAD v4 |
| 4 | g.71758171G>C | CA357205757 | GC | c.702C>G (p.Ser234Arg) n.586C>G c.759C>G (p.Ser253Arg) | |
| 4 | g.71758171G>T | CA357205759 | GC | c.702C>A (p.Ser234Arg) n.586C>A c.759C>A (p.Ser253Arg) | |
| 4 | g.71758172C>A | CA357205762 | GC | c.702-1G>T (n.702-1G>T) n.586-1G>T c.759-1G>T (n.759-1G>T) | |
| 4 | g.71758172C= | CA1467373822 | GC | c.702-1G= (n.702-1G=) n.586-1G= c.759-1G= (n.759-1G=) | |
| 4 | g.71758172C>G | CA357205765 | GC | c.702-1G>C (n.702-1G>C) n.586-1G>C c.759-1G>C (n.759-1G>C) | gnomAD v4 |
| 4 | g.71758172C>T | CA2955608 | GC | c.702-1G>A (n.702-1G>A) n.586-1G>A c.759-1G>A (n.759-1G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71758173T>A | CA357205770 | GC | c.702-2A>T (n.702-2A>T) n.586-2A>T c.759-2A>T (n.759-2A>T) | |
| 4 | g.71758173T>C | CA357205775 | GC | c.702-2A>G (n.702-2A>G) n.586-2A>G c.759-2A>G (n.759-2A>G) | gnomAD v4 |
| 4 | g.71758173T>G | CA357205772 | GC | c.702-2A>C (n.702-2A>C) n.586-2A>C c.759-2A>C (n.759-2A>C) | |
| 4 | g.71758173_71758174insGAGCCTTGATTTCTTCTCCCCATAAGCAGC | CA2706440074 | GC | c.702-3_702-2insGCTGCTTATGGGGAGAAGAAATCAAGGCTC (n.702-3_702-2insGCTGCTTATGGGGAGAAGAAATCAAGGCTC) n.586-3_586-2insGCTGCTTATGGGGAGAAGAAATCAAGGCTC c.759-3_759-2insGCTGCTTATGGGGAGAAGAAATCAAGGCTC (n.759-3_759-2insGCTGCTTATGGGGAGAAGAAATCAAGGCTC) | dbSNP |
| 4 | g.71758173_71758174insGAGCCTTGATTTCTTCTCCCCATAAGCAGCATATTGTGAGCAG | CA2706440077 | GC | c.702-3_702-2insCTGCTCACAATATGCTGCTTATGGGGAGAAGAAATCAAGGCTC (n.702-3_702-2insCTGCTCACAATATGCTGCTTATGGGGAGAAGAAATCAAGGCTC) n.586-3_586-2insCTGCTCACAATATGCTGCTTATGGGGAGAAGAAATCAAGGCTC c.759-3_759-2insCTGCTCACAATATGCTGCTTATGGGGAGAAGAAATCAAGGCTC (n.759-3_759-2insCTGCTCACAATATGCTGCTTATGGGGAGAAGAAATCAAGGCTC) | dbSNP |
| 4 | g.71758174A= | CA1467373823 | GC | c.702-3T= (n.702-3T=) n.586-3T= c.759-3T= (n.759-3T=) | |
| 4 | g.71758174A>G | CA99066760 | GC | c.702-3T>C (n.702-3T>C) n.586-3T>C c.759-3T>C (n.759-3T>C) | dbSNP |
| 4 | g.71758176A= | CA1467373824 | GC | c.702-5T= (n.702-5T=) n.586-5T= c.759-5T= (n.759-5T=) | |
| 4 | g.71758176A>G | CA2955609 | GC | c.702-5T>C (n.702-5T>C) n.586-5T>C c.759-5T>C (n.759-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758176A>T | CA2670942128 | GC | c.702-5T>A (n.702-5T>A) n.586-5T>A c.759-5T>A (n.759-5T>A) | gnomAD v4 |
| 4 | g.71758177C>T | CA2670942129 | GC | c.702-6G>A (n.702-6G>A) n.586-6G>A c.759-6G>A (n.759-6G>A) | gnomAD v4 |
| 4 | g.71758181T>C | CA798112173 | GC | c.702-10A>G (n.702-10A>G) n.586-10A>G c.759-10A>G (n.759-10A>G) | dbSNP gnomAD v4 |
| 4 | g.71758181T= | CA1467373825 | GC | c.702-10A= (n.702-10A=) n.586-10A= c.759-10A= (n.759-10A=) | |
| 4 | g.71758182A= | CA1467373826 | GC | c.702-11T= (n.702-11T=) n.586-11T= c.759-11T= (n.759-11T=) | |
| 4 | g.71758182A>C | CA552290328 | GC | c.702-11T>G (n.702-11T>G) n.586-11T>G c.759-11T>G (n.759-11T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71758187T>C | CA552290329 | GC | c.702-16A>G (n.702-16A>G) n.586-16A>G c.759-16A>G (n.759-16A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71758187T= | CA1467373827 | GC | c.702-16A= (n.702-16A=) n.586-16A= c.759-16A= (n.759-16A=) | |
| 4 | g.71758188A= | CA1467373828 | GC | c.702-17T= (n.702-17T=) n.586-17T= c.759-17T= (n.759-17T=) | |
| 4 | g.71758188A>G | CA2955610 | GC | c.702-17T>C (n.702-17T>C) n.586-17T>C c.759-17T>C (n.759-17T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758189A>C | CA2670942130 | GC | c.702-18T>G (n.702-18T>G) n.586-18T>G c.759-18T>G (n.759-18T>G) | dbSNP gnomAD v4 |
| 4 | g.71758190A= | CA1467373830 | GC | c.702-19T= (n.702-19T=) n.586-19T= c.759-19T= (n.759-19T=) | |
| 4 | g.71758190A>G | CA99066771 | GC | c.702-19T>C (n.702-19T>C) n.586-19T>C c.759-19T>C (n.759-19T>C) | dbSNP gnomAD v4 |
| 4 | g.71758190_71758191delinsAT | CA1467373829 | GC | c.702-20_702-19delinsAT (n.702-20_702-19delinsAT) n.586-20_586-19delinsAT c.759-20_759-19delinsAT (n.759-20_759-19delinsAT) | |
| 4 | g.71758191del | CA2955611 | GC | c.702-20del (n.702-20del) n.586-20del c.759-20del (n.759-20del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71758191T>A | CA2670942131 | GC | c.702-20A>T (n.702-20A>T) n.586-20A>T c.759-20A>T (n.759-20A>T) | gnomAD v4 |
| 4 | g.71758191T>C | CA2670942132 | GC | c.702-20A>G (n.702-20A>G) n.586-20A>G c.759-20A>G (n.759-20A>G) | gnomAD v4 |
| 4 | g.71758191_71758192delinsTA | CA1467373831 | GC | c.702-21_702-20delinsTA (n.702-21_702-20delinsTA) n.586-21_586-20delinsTA c.759-21_759-20delinsTA (n.759-21_759-20delinsTA) | |
| 4 | g.71758192del | CA2955612 | GC | c.702-21del (n.702-21del) n.586-21del c.759-21del (n.759-21del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71758192A= | CA1467373832 | GC | c.702-21T= (n.702-21T=) n.586-21T= c.759-21T= (n.759-21T=) | |
| 4 | g.71758192A>G | CA552290330 | GC | c.702-21T>C (n.702-21T>C) n.586-21T>C c.759-21T>C (n.759-21T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71758192A>T | CA2670942133 | GC | c.702-21T>A (n.702-21T>A) n.586-21T>A c.759-21T>A (n.759-21T>A) | dbSNP gnomAD v4 |
| 4 | g.71758193del | CA2670942134 | GC | c.702-22del (n.702-22del) n.586-22del c.759-22del (n.759-22del) | gnomAD v4 |
| 4 | g.71758193T>A | CA1063993106 | GC | c.702-22A>T (n.702-22A>T) n.586-22A>T c.759-22A>T (n.759-22A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71758193T>C | CA1467373834 | GC | c.702-22A>G (n.702-22A>G) n.586-22A>G c.759-22A>G (n.759-22A>G) | dbSNP gnomAD v4 |
| 4 | g.71758193T= | CA1467373833 | GC | c.702-22A= (n.702-22A=) n.586-22A= c.759-22A= (n.759-22A=) | |
| 4 | g.71758194G>C | CA552290331 | GC | c.702-23C>G (n.702-23C>G) n.586-23C>G c.759-23C>G (n.759-23C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71758194G= | CA1467373835 | GC | c.702-23C= (n.702-23C=) n.586-23C= c.759-23C= (n.759-23C=) | |
| 4 | g.71758195T>C | CA552290332 | GC | c.702-24A>G (n.702-24A>G) n.586-24A>G c.759-24A>G (n.759-24A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71758195T= | CA1467373836 | GC | c.702-24A= (n.702-24A=) n.586-24A= c.759-24A= (n.759-24A=) | |
| 4 | g.71758196del | CA2578109170 | GC | c.702-24del (n.702-24del) n.586-24del c.759-24del (n.759-24del) | gnomAD v4 |
| 4 | g.71758198G>A | CA2670942135 | GC | c.702-27C>T (n.702-27C>T) n.586-27C>T c.759-27C>T (n.759-27C>T) | gnomAD v4 |
| 4 | g.71758198G>T | CA2670942136 | GC | c.702-27C>A (n.702-27C>A) n.586-27C>A c.759-27C>A (n.759-27C>A) | gnomAD v4 |
| 4 | g.71758199C>T | CA2670942137 | GC | c.702-28G>A (n.702-28G>A) n.586-28G>A c.759-28G>A (n.759-28G>A) | gnomAD v4 |
| 4 | g.71758201T>C | CA2670942138 | GC | c.702-30A>G (n.702-30A>G) n.586-30A>G c.759-30A>G (n.759-30A>G) | gnomAD v4 |
| 4 | g.71758201T= | CA1467373837 | GC | c.702-30A= (n.702-30A=) n.586-30A= c.759-30A= (n.759-30A=) | |
| 4 | g.71758202dup | CA2955613 | GC | c.702-31dup (n.702-31dup) n.586-31dup c.759-31dup (n.759-31dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758204del | CA2670942139 | GC | c.702-33del (n.702-33del) n.586-33del c.759-33del (n.759-33del) | gnomAD v4 |
| 4 | g.71758204C>A | CA552290333 | GC | c.702-33G>T (n.702-33G>T) n.586-33G>T c.759-33G>T (n.759-33G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71758204C= | CA1467373838 | GC | c.702-33G= (n.702-33G=) n.586-33G= c.759-33G= (n.759-33G=) | |
| 4 | g.71758207C= | CA1467373839 | GC | c.702-36G= (n.702-36G=) n.586-36G= c.759-36G= (n.759-36G=) | |
| 4 | g.71758207C>G | CA552290334 | GC | c.702-36G>C (n.702-36G>C) n.586-36G>C c.759-36G>C (n.759-36G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758207C>T | CA2670942140 | GC | c.702-36G>A (n.702-36G>A) n.586-36G>A c.759-36G>A (n.759-36G>A) | gnomAD v4 |
| 4 | g.71758208A= | CA1467373841 | GC | c.702-37T= (n.702-37T=) n.586-37T= c.759-37T= (n.759-37T=) | |
| 4 | g.71758208A>G | CA2670942141 | GC | c.702-37T>C (n.702-37T>C) n.586-37T>C c.759-37T>C (n.759-37T>C) | gnomAD v4 |
| 4 | g.71758208A>T | CA552290335 | GC | c.702-37T>A (n.702-37T>A) n.586-37T>A c.759-37T>A (n.759-37T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71758208_71758209delinsAT | CA1467373840 | GC | c.702-38_702-37delinsAT (n.702-38_702-37delinsAT) n.586-38_586-37delinsAT c.759-38_759-37delinsAT (n.759-38_759-37delinsAT) | |
| 4 | g.71758209T>A | CA2955615 | GC | c.702-38A>T (n.702-38A>T) n.586-38A>T c.759-38A>T (n.759-38A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758209T>C | CA2670942142 | GC | c.702-38A>G (n.702-38A>G) n.586-38A>G c.759-38A>G (n.759-38A>G) | gnomAD v4 |
| 4 | g.71758209T= | CA1467373842 | GC | c.702-38A= (n.702-38A=) n.586-38A= c.759-38A= (n.759-38A=) | |
| 4 | g.71758210del | CA2955614 | GC | c.702-38del (n.702-38del) n.586-38del c.759-38del (n.759-38del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71758210T>C | CA99066799 | GC | c.702-39A>G (n.702-39A>G) n.586-39A>G c.759-39A>G (n.759-39A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758210T>G | CA2955616 | GC | c.702-39A>C (n.702-39A>C) n.586-39A>C c.759-39A>C (n.759-39A>C) | dbSNP ExAC gnomAD v2 |
| 4 | g.71758210T= | CA1467373843 | GC | c.702-39A= (n.702-39A=) n.586-39A= c.759-39A= (n.759-39A=) | |
| 4 | g.71758212T>A | CA2581424052 | GC | c.702-41A>T (n.702-41A>T) n.586-41A>T c.759-41A>T (n.759-41A>T) | |
| 4 | g.71758212T>C | CA2955617 | GC | c.702-41A>G (n.702-41A>G) n.586-41A>G c.759-41A>G (n.759-41A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758212T>G | CA2581424051 | GC | c.702-41A>C (n.702-41A>C) n.586-41A>C c.759-41A>C (n.759-41A>C) | |
| 4 | g.71758212T= | CA1467373844 | GC | c.702-41A= (n.702-41A=) n.586-41A= c.759-41A= (n.759-41A=) | |
| 4 | g.71758214A= | CA1467373845 | GC | c.702-43T= (n.702-43T=) n.586-43T= c.759-43T= (n.759-43T=) | |
| 4 | g.71758214A>C | CA2578109171 | GC | c.702-43T>G (n.702-43T>G) n.586-43T>G c.759-43T>G (n.759-43T>G) | gnomAD v4 |
| 4 | g.71758214A>G | CA1467373846 | GC | c.702-43T>C (n.702-43T>C) n.586-43T>C c.759-43T>C (n.759-43T>C) | dbSNP gnomAD v4 |
| 4 | g.71758215G>A | CA2670942143 | GC | c.702-44C>T (n.702-44C>T) n.586-44C>T c.759-44C>T (n.759-44C>T) | gnomAD v4 |
| 4 | g.71758215G>T | CA2670942144 | GC | c.702-44C>A (n.702-44C>A) n.586-44C>A c.759-44C>A (n.759-44C>A) | gnomAD v4 |
| 4 | g.71758218T>C | CA2578109172 | GC | c.702-47A>G (n.702-47A>G) n.586-47A>G c.759-47A>G (n.759-47A>G) | gnomAD v4 |
| 4 | g.71758220C>A | CA2670942145 | GC | c.702-49G>T (n.702-49G>T) n.586-49G>T c.759-49G>T (n.759-49G>T) | gnomAD v4 |
| 4 | g.71758220C= | CA1467373847 | GC | c.702-49G= (n.702-49G=) n.586-49G= c.759-49G= (n.759-49G=) | |
| 4 | g.71758220C>T | CA1467373848 | GC | c.702-49G>A (n.702-49G>A) n.586-49G>A c.759-49G>A (n.759-49G>A) | dbSNP gnomAD v4 |
| 4 | g.71758223G= | CA1467373849 | GC | c.702-52C= (n.702-52C=) n.586-52C= c.759-52C= (n.759-52C=) | |
| 4 | g.71758223G>T | CA2955618 | GC | c.702-52C>A (n.702-52C>A) n.586-52C>A c.759-52C>A (n.759-52C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71758224G>A | CA2670942146 | GC | c.702-53C>T (n.702-53C>T) n.586-53C>T c.759-53C>T (n.759-53C>T) | gnomAD v4 |
| 4 | g.71758228C>A | CA2670942147 | GC | c.702-57G>T (n.702-57G>T) n.586-57G>T c.759-57G>T (n.759-57G>T) | gnomAD v4 |
| 4 | g.71758228C= | CA1467373850 | GC | c.702-57G= (n.702-57G=) n.586-57G= c.759-57G= (n.759-57G=) | |
| 4 | g.71758228C>T | CA99066810 | GC | c.702-57G>A (n.702-57G>A) n.586-57G>A c.759-57G>A (n.759-57G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758229G>A | CA99066814 | GC | c.702-58C>T (n.702-58C>T) n.586-58C>T c.759-58C>T (n.759-58C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71758229G>C | CA649007201 | GC | c.702-58C>G (n.702-58C>G) n.586-58C>G c.759-58C>G (n.759-58C>G) | gnomAD v4 COSMIC |
| 4 | g.71758229G= | CA1467373851 | GC | c.702-58C= (n.702-58C=) n.586-58C= c.759-58C= (n.759-58C=) | |
| 4 | g.71758229G>T | CA2670942148 | GC | c.702-58C>A (n.702-58C>A) n.586-58C>A c.759-58C>A (n.759-58C>A) | gnomAD v4 |
| 4 | g.71758231G>A | CA649007203 | GC | c.702-60C>T (n.702-60C>T) n.586-60C>T c.759-60C>T (n.759-60C>T) | COSMIC |
| 4 | g.71758231G>T | CA2670942149 | GC | c.702-60C>A (n.702-60C>A) n.586-60C>A c.759-60C>A (n.759-60C>A) | gnomAD v4 |
| 4 | g.71758232A= | CA1467373852 | GC | c.702-61T= (n.702-61T=) n.586-61T= c.759-61T= (n.759-61T=) | |
| 4 | g.71758232A>G | CA99066817 | GC | c.702-61T>C (n.702-61T>C) n.586-61T>C c.759-61T>C (n.759-61T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71758233T>C | CA2670942150 | GC | c.702-62A>G (n.702-62A>G) n.586-62A>G c.759-62A>G (n.759-62A>G) | gnomAD v4 |
| 4 | g.71758234G>A | CA1063993122 | GC | c.702-63C>T (n.702-63C>T) n.586-63C>T c.759-63C>T (n.759-63C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71758234G= | CA1467373853 | GC | c.702-63C= (n.702-63C=) n.586-63C= c.759-63C= (n.759-63C=) | |
| 4 | g.71758234G>T | CA2670942151 | GC | c.702-63C>A (n.702-63C>A) n.586-63C>A c.759-63C>A (n.759-63C>A) | gnomAD v4 |
| 4 | g.71758236A= | CA1467373854 | GC | c.702-65T= (n.702-65T=) n.586-65T= c.759-65T= (n.759-65T=) | |
| 4 | g.71758236A>G | CA798112222 | GC | c.702-65T>C (n.702-65T>C) n.586-65T>C c.759-65T>C (n.759-65T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71758237C>A | CA99066824 | GC | c.702-66G>T (n.702-66G>T) n.586-66G>T c.759-66G>T (n.759-66G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71758237C= | CA1467373855 | GC | c.702-66G= (n.702-66G=) n.586-66G= c.759-66G= (n.759-66G=) | |
| 4 | g.71758237C>T | CA99066826 | GC | c.702-66G>A (n.702-66G>A) n.586-66G>A c.759-66G>A (n.759-66G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |