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 |
|---|---|---|---|---|---|
| 12 | g.101761602G>A | CA481576687 | GNPTAB | c.2877C>T (p.His959=) c.2796C>T (p.His932=) c.2661C>T (p.His887=) c.1650C>T (p.His550=) | ClinVar |
| 12 | g.101761602G>C | CA386296160 | GNPTAB | c.2877C>G (p.His959Gln) c.2796C>G (p.His932Gln) c.2661C>G (p.His887Gln) c.1650C>G (p.His550Gln) | |
| 12 | g.101761602G>T | CA386296161 | GNPTAB | c.2877C>A (p.His959Gln) c.2796C>A (p.His932Gln) c.2661C>A (p.His887Gln) c.1650C>A (p.His550Gln) | |
| 12 | g.101761603T>A | CA386296162 | GNPTAB | c.2876A>T (p.His959Leu) c.2795A>T (p.His932Leu) c.2660A>T (p.His887Leu) c.1649A>T (p.His550Leu) | dbSNP |
| 12 | g.101761603T>C | CA386296163 | GNPTAB | c.2876A>G (p.His959Arg) c.2795A>G (p.His932Arg) c.2660A>G (p.His887Arg) c.1649A>G (p.His550Arg) | |
| 12 | g.101761603T>G | CA386296164 | GNPTAB | c.2876A>C (p.His959Pro) c.2795A>C (p.His932Pro) c.2660A>C (p.His887Pro) c.1649A>C (p.His550Pro) | |
| 12 | g.101761603T= | CA2058953030 | GNPTAB | c.2876A= (p.His959=) c.2795A= (p.His932=) c.2660A= (p.His887=) c.1649A= (p.His550=) | |
| 12 | g.101761604G>A | CA386296165 | GNPTAB | c.2875C>T (p.His959Tyr) c.2794C>T (p.His932Tyr) c.2659C>T (p.His887Tyr) c.1648C>T (p.His550Tyr) | gnomAD v4 |
| 12 | g.101761604G>C | CA386296166 | GNPTAB | c.2875C>G (p.His959Asp) c.2794C>G (p.His932Asp) c.2659C>G (p.His887Asp) c.1648C>G (p.His550Asp) | |
| 12 | g.101761604G>T | CA386296167 | GNPTAB | c.2875C>A (p.His959Asn) c.2794C>A (p.His932Asn) c.2659C>A (p.His887Asn) c.1648C>A (p.His550Asn) | |
| 12 | g.101761605A>C | CA481576689 | GNPTAB | c.2874T>G (p.Pro958=) c.2793T>G (p.Pro931=) c.2658T>G (p.Pro886=) c.1647T>G (p.Pro549=) | |
| 12 | g.101761605A>G | CA481576690 | GNPTAB | c.2874T>C (p.Pro958=) c.2793T>C (p.Pro931=) c.2658T>C (p.Pro886=) c.1647T>C (p.Pro549=) | |
| 12 | g.101761605A>T | CA481576691 | GNPTAB | c.2874T>A (p.Pro958=) c.2793T>A (p.Pro931=) c.2658T>A (p.Pro886=) c.1647T>A (p.Pro549=) | |
| 12 | g.101761606G>A | CA386296169 | GNPTAB | c.2873C>T (p.Pro958Leu) c.2792C>T (p.Pro931Leu) c.2657C>T (p.Pro886Leu) c.1646C>T (p.Pro549Leu) | |
| 12 | g.101761606G>C | CA386296170 | GNPTAB | c.2873C>G (p.Pro958Arg) c.2792C>G (p.Pro931Arg) c.2657C>G (p.Pro886Arg) c.1646C>G (p.Pro549Arg) | |
| 12 | g.101761606G>T | CA386296168 | GNPTAB | c.2873C>A (p.Pro958His) c.2792C>A (p.Pro931His) c.2657C>A (p.Pro886His) c.1646C>A (p.Pro549His) | |
| 12 | g.101761607G>A | CA386296171 | GNPTAB | c.2872C>T (p.Pro958Ser) c.2791C>T (p.Pro931Ser) c.2656C>T (p.Pro886Ser) c.1645C>T (p.Pro549Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101761607G>C | CA386296172 | GNPTAB | c.2872C>G (p.Pro958Ala) c.2791C>G (p.Pro931Ala) c.2656C>G (p.Pro886Ala) c.1645C>G (p.Pro549Ala) | |
| 12 | g.101761607G= | CA2058953034 | GNPTAB | c.2872C= (p.Pro958=) c.2791C= (p.Pro931=) c.2656C= (p.Pro886=) c.1645C= (p.Pro549=) | |
| 12 | g.101761607G>T | CA386296173 | GNPTAB | c.2872C>A (p.Pro958Thr) c.2791C>A (p.Pro931Thr) c.2656C>A (p.Pro886Thr) c.1645C>A (p.Pro549Thr) | |
| 12 | g.101761608C>A | CA386296174 | GNPTAB | c.2871G>T (p.Met957Ile) c.2790G>T (p.Met930Ile) c.2655G>T (p.Met885Ile) c.1644G>T (p.Met548Ile) | |
| 12 | g.101761608C>G | CA386296175 | GNPTAB | c.2871G>C (p.Met957Ile) c.2790G>C (p.Met930Ile) c.2655G>C (p.Met885Ile) c.1644G>C (p.Met548Ile) | gnomAD v4 |
| 12 | g.101761608C>T | CA386296176 | GNPTAB | c.2871G>A (p.Met957Ile) c.2790G>A (p.Met930Ile) c.2655G>A (p.Met885Ile) c.1644G>A (p.Met548Ile) | gnomAD v4 |
| 12 | g.101761609A>C | CA386296179 | GNPTAB | c.2870T>G (p.Met957Arg) c.2789T>G (p.Met930Arg) c.2654T>G (p.Met885Arg) c.1643T>G (p.Met548Arg) | |
| 12 | g.101761609A>G | CA386296177 | GNPTAB | c.2870T>C (p.Met957Thr) c.2789T>C (p.Met930Thr) c.2654T>C (p.Met885Thr) c.1643T>C (p.Met548Thr) | |
| 12 | g.101761609A>T | CA386296178 | GNPTAB | c.2870T>A (p.Met957Lys) c.2789T>A (p.Met930Lys) c.2654T>A (p.Met885Lys) c.1643T>A (p.Met548Lys) | |
| 12 | g.101761610T>A | CA386296180 | GNPTAB | c.2869A>T (p.Met957Leu) c.2788A>T (p.Met930Leu) c.2653A>T (p.Met885Leu) c.1642A>T (p.Met548Leu) | |
| 12 | g.101761610T>C | CA6746334 | GNPTAB | c.2869A>G (p.Met957Val) c.2788A>G (p.Met930Val) c.2653A>G (p.Met885Val) c.1642A>G (p.Met548Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101761610T>G | CA386296181 | GNPTAB | c.2869A>C (p.Met957Leu) c.2788A>C (p.Met930Leu) c.2653A>C (p.Met885Leu) c.1642A>C (p.Met548Leu) | |
| 12 | g.101761610T= | CA2058953036 | GNPTAB | c.2869A= (p.Met957=) c.2788A= (p.Met930=) c.2653A= (p.Met885=) c.1642A= (p.Met548=) | |
| 12 | g.101761612_101761613del | CA2580616841 | GNPTAB | c.2868_2869del (p.Met957AlafsTer5) c.2787_2788del (p.Met930AlafsTer5) c.2652_2653del (p.Met885AlafsTer5) c.1641_1642del (p.Met548AlafsTer5) | ClinVar dbSNP |
| 12 | g.101761611G>A | CA481576699 | GNPTAB | c.2868C>T (p.His956=) c.2787C>T (p.His929=) c.2652C>T (p.His884=) c.1641C>T (p.His547=) | |
| 12 | g.101761611G>C | CA386296182 | GNPTAB | c.2868C>G (p.His956Gln) c.2787C>G (p.His929Gln) c.2652C>G (p.His884Gln) c.1641C>G (p.His547Gln) | |
| 12 | g.101761611G>T | CA386296183 | GNPTAB | c.2868C>A (p.His956Gln) c.2787C>A (p.His929Gln) c.2652C>A (p.His884Gln) c.1641C>A (p.His547Gln) | |
| 12 | g.101761612T>A | CA386296184 | GNPTAB | c.2867A>T (p.His956Leu) c.2786A>T (p.His929Leu) c.2651A>T (p.His884Leu) c.1640A>T (p.His547Leu) | |
| 12 | g.101761612T>C | CA343384 | GNPTAB | c.2867A>G (p.His956Arg) c.2786A>G (p.His929Arg) c.2651A>G (p.His884Arg) c.1640A>G (p.His547Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101761612T>G | CA386296185 | GNPTAB | c.2867A>C (p.His956Pro) c.2786A>C (p.His929Pro) c.2651A>C (p.His884Pro) c.1640A>C (p.His547Pro) | |
| 12 | g.101761612T= | CA2058953042 | GNPTAB | c.2867A= (p.His956=) c.2786A= (p.His929=) c.2651A= (p.His884=) c.1640A= (p.His547=) | |
| 12 | g.101761613G>A | CA343383 | GNPTAB | c.2866C>T (p.His956Tyr) c.2785C>T (p.His929Tyr) c.2650C>T (p.His884Tyr) c.1639C>T (p.His547Tyr) | ClinVar dbSNP |
| 12 | g.101761613G>C | CA386296186 | GNPTAB | c.2866C>G (p.His956Asp) c.2785C>G (p.His929Asp) c.2650C>G (p.His884Asp) c.1639C>G (p.His547Asp) | |
| 12 | g.101761613G= | CA2058953052 | GNPTAB | c.2866C= (p.His956=) c.2785C= (p.His929=) c.2650C= (p.His884=) c.1639C= (p.His547=) | |
| 12 | g.101761613G>T | CA242454304 | GNPTAB | c.2866C>A (p.His956Asn) c.2785C>A (p.His929Asn) c.2650C>A (p.His884Asn) c.1639C>A (p.His547Asn) | dbSNP gnomAD v4 |
| 12 | g.101761614A>C | CA481576704 | GNPTAB | c.2865T>G (p.Ala955=) c.2784T>G (p.Ala928=) c.2649T>G (p.Ala883=) c.1638T>G (p.Ala546=) | |
| 12 | g.101761614A>G | CA481576705 | GNPTAB | c.2865T>C (p.Ala955=) c.2784T>C (p.Ala928=) c.2649T>C (p.Ala883=) c.1638T>C (p.Ala546=) | |
| 12 | g.101761614A>T | CA481576703 | GNPTAB | c.2865T>A (p.Ala955=) c.2784T>A (p.Ala928=) c.2649T>A (p.Ala883=) c.1638T>A (p.Ala546=) | |
| 12 | g.101761615G>A | CA356543 | GNPTAB | c.2864C>T (p.Ala955Val) c.2783C>T (p.Ala928Val) c.2648C>T (p.Ala883Val) c.1637C>T (p.Ala546Val) | ClinVar dbSNP gnomAD v4 |
| 12 | g.[101761615G>A;101761696T>C] | CA356547 | GNPTAB | c.[2783A>G;2864C>T] (p.[Lys928Arg;Ala955Val]) c.[2702A>G;2783C>T] (p.[Lys901Arg;Ala928Val]) c.[2567A>G;2648C>T] (p.[Lys856Arg;Ala883Val]) c.[1556A>G;1637C>T] (p.[Lys519Arg;Ala546Val]) | ClinVar |
| 12 | g.101761615G>C | CA386296187 | GNPTAB | c.2864C>G (p.Ala955Gly) c.2783C>G (p.Ala928Gly) c.2648C>G (p.Ala883Gly) c.1637C>G (p.Ala546Gly) | |
| 12 | g.101761615G= | CA2058953055 | GNPTAB | c.2864C= (p.Ala955=) c.2783C= (p.Ala928=) c.2648C= (p.Ala883=) c.1637C= (p.Ala546=) | |
| 12 | g.101761615G>T | CA386296188 | GNPTAB | c.2864C>A (p.Ala955Asp) c.2783C>A (p.Ala928Asp) c.2648C>A (p.Ala883Asp) c.1637C>A (p.Ala546Asp) | |
| 12 | g.101761616C>A | CA386296189 | GNPTAB | c.2863G>T (p.Ala955Ser) c.2782G>T (p.Ala928Ser) c.2647G>T (p.Ala883Ser) c.1636G>T (p.Ala546Ser) | |
| 12 | g.101761616C>G | CA386296190 | GNPTAB | c.2863G>C (p.Ala955Pro) c.2782G>C (p.Ala928Pro) c.2647G>C (p.Ala883Pro) c.1636G>C (p.Ala546Pro) | |
| 12 | g.101761616C>T | CA386296191 | GNPTAB | c.2863G>A (p.Ala955Thr) c.2782G>A (p.Ala928Thr) c.2647G>A (p.Ala883Thr) c.1636G>A (p.Ala546Thr) | gnomAD v4 |
| 12 | g.101761617A= | CA2058953061 | GNPTAB | c.2862T= (p.Pro954=) c.2781T= (p.Pro927=) c.2646T= (p.Pro882=) c.1635T= (p.Pro545=) | |
| 12 | g.101761617A>C | CA481576708 | GNPTAB | c.2862T>G (p.Pro954=) c.2781T>G (p.Pro927=) c.2646T>G (p.Pro882=) c.1635T>G (p.Pro545=) | gnomAD v4 |
| 12 | g.101761617A>G | CA6746335 | GNPTAB | c.2862T>C (p.Pro954=) c.2781T>C (p.Pro927=) c.2646T>C (p.Pro882=) c.1635T>C (p.Pro545=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101761617A>T | CA481576707 | GNPTAB | c.2862T>A (p.Pro954=) c.2781T>A (p.Pro927=) c.2646T>A (p.Pro882=) c.1635T>A (p.Pro545=) | |
| 12 | g.101761618G>A | CA6746336 | GNPTAB | c.2861C>T (p.Pro954Leu) c.2780C>T (p.Pro927Leu) c.2645C>T (p.Pro882Leu) c.1634C>T (p.Pro545Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101761618G>C | CA386296193 | GNPTAB | c.2861C>G (p.Pro954Arg) c.2780C>G (p.Pro927Arg) c.2645C>G (p.Pro882Arg) c.1634C>G (p.Pro545Arg) | dbSNP |
| 12 | g.101761618G= | CA2058953069 | GNPTAB | c.2861C= (p.Pro954=) c.2780C= (p.Pro927=) c.2645C= (p.Pro882=) c.1634C= (p.Pro545=) | |
| 12 | g.101761618G>T | CA386296192 | GNPTAB | c.2861C>A (p.Pro954His) c.2780C>A (p.Pro927His) c.2645C>A (p.Pro882His) c.1634C>A (p.Pro545His) | |
| 12 | g.101761620dup | CA242454309 | GNPTAB | c.2861dup (p.Ala955CysfsTer8) c.2780dup (p.Ala928CysfsTer8) c.2645dup (p.Ala883CysfsTer8) c.1634dup (p.Ala546CysfsTer8) | dbSNP |
| 12 | g.101761619G>A | CA386296195 | GNPTAB | c.2860C>T (p.Pro954Ser) c.2779C>T (p.Pro927Ser) c.2644C>T (p.Pro882Ser) c.1633C>T (p.Pro545Ser) | gnomAD v4 |
| 12 | g.101761619G>C | CA386296194 | GNPTAB | c.2860C>G (p.Pro954Ala) c.2779C>G (p.Pro927Ala) c.2644C>G (p.Pro882Ala) c.1633C>G (p.Pro545Ala) | |
| 12 | g.101761619G>T | CA386296196 | GNPTAB | c.2860C>A (p.Pro954Thr) c.2779C>A (p.Pro927Thr) c.2644C>A (p.Pro882Thr) c.1633C>A (p.Pro545Thr) | |
| 12 | g.101761620G>A | CA6746337 | GNPTAB | c.2859C>T (p.Val953=) c.2778C>T (p.Val926=) c.2643C>T (p.Val881=) c.1632C>T (p.Val544=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101761620G>C | CA481576712 | GNPTAB | c.2859C>G (p.Val953=) c.2778C>G (p.Val926=) c.2643C>G (p.Val881=) c.1632C>G (p.Val544=) | |
| 12 | g.101761620G= | CA2058953072 | GNPTAB | c.2859C= (p.Val953=) c.2778C= (p.Val926=) c.2643C= (p.Val881=) c.1632C= (p.Val544=) | |
| 12 | g.101761620G>T | CA481576711 | GNPTAB | c.2859C>A (p.Val953=) c.2778C>A (p.Val926=) c.2643C>A (p.Val881=) c.1632C>A (p.Val544=) | |
| 12 | g.101761621A>C | CA386296197 | GNPTAB | c.2858T>G (p.Val953Gly) c.2777T>G (p.Val926Gly) c.2642T>G (p.Val881Gly) c.1631T>G (p.Val544Gly) | |
| 12 | g.101761621A>G | CA386296198 | GNPTAB | c.2858T>C (p.Val953Ala) c.2777T>C (p.Val926Ala) c.2642T>C (p.Val881Ala) c.1631T>C (p.Val544Ala) | |
| 12 | g.101761621A>T | CA386296199 | GNPTAB | c.2858T>A (p.Val953Asp) c.2777T>A (p.Val926Asp) c.2642T>A (p.Val881Asp) c.1631T>A (p.Val544Asp) | |
| 12 | g.101761622C>A | CA386296200 | GNPTAB | c.2857G>T (p.Val953Phe) c.2776G>T (p.Val926Phe) c.2641G>T (p.Val881Phe) c.1630G>T (p.Val544Phe) | |
| 12 | g.101761622C= | CA2058953076 | GNPTAB | c.2857G= (p.Val953=) c.2776G= (p.Val926=) c.2641G= (p.Val881=) c.1630G= (p.Val544=) | |
| 12 | g.101761622C>G | CA386296201 | GNPTAB | c.2857G>C (p.Val953Leu) c.2776G>C (p.Val926Leu) c.2641G>C (p.Val881Leu) c.1630G>C (p.Val544Leu) | dbSNP |
| 12 | g.101761622C>T | CA386296202 | GNPTAB | c.2857G>A (p.Val953Ile) c.2776G>A (p.Val926Ile) c.2641G>A (p.Val881Ile) c.1630G>A (p.Val544Ile) | |
| 12 | g.101761623T>A | CA386296203 | GNPTAB | c.2856A>T (p.Lys952Asn) c.2775A>T (p.Lys925Asn) c.2640A>T (p.Lys880Asn) c.1629A>T (p.Lys543Asn) | |
| 12 | g.101761623T>C | CA481576716 | GNPTAB | c.2856A>G (p.Lys952=) c.2775A>G (p.Lys925=) c.2640A>G (p.Lys880=) c.1629A>G (p.Lys543=) | |
| 12 | g.101761623T>G | CA386296204 | GNPTAB | c.2856A>C (p.Lys952Asn) c.2775A>C (p.Lys925Asn) c.2640A>C (p.Lys880Asn) c.1629A>C (p.Lys543Asn) | |
| 12 | g.101761624T>A | CA386296205 | GNPTAB | c.2855A>T (p.Lys952Ile) c.2774A>T (p.Lys925Ile) c.2639A>T (p.Lys880Ile) c.1628A>T (p.Lys543Ile) | |
| 12 | g.101761624T>C | CA386296206 | GNPTAB | c.2855A>G (p.Lys952Arg) c.2774A>G (p.Lys925Arg) c.2639A>G (p.Lys880Arg) c.1628A>G (p.Lys543Arg) | dbSNP |
| 12 | g.101761624T>G | CA386296207 | GNPTAB | c.2855A>C (p.Lys952Thr) c.2774A>C (p.Lys925Thr) c.2639A>C (p.Lys880Thr) c.1628A>C (p.Lys543Thr) | |
| 12 | g.101761624T= | CA2058953079 | GNPTAB | c.2855A= (p.Lys952=) c.2774A= (p.Lys925=) c.2639A= (p.Lys880=) c.1628A= (p.Lys543=) | |
| 12 | g.101761625T>A | CA386296208 | GNPTAB | c.2854A>T (p.Lys952Ter) c.2773A>T (p.Lys925Ter) c.2638A>T (p.Lys880Ter) c.1627A>T (p.Lys543Ter) | |
| 12 | g.101761625T>C | CA386296210 | GNPTAB | c.2854A>G (p.Lys952Glu) c.2773A>G (p.Lys925Glu) c.2638A>G (p.Lys880Glu) c.1627A>G (p.Lys543Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101761625T>G | CA386296209 | GNPTAB | c.2854A>C (p.Lys952Gln) c.2773A>C (p.Lys925Gln) c.2638A>C (p.Lys880Gln) c.1627A>C (p.Lys543Gln) | |
| 12 | g.101761625T= | CA2058953083 | GNPTAB | c.2854A= (p.Lys952=) c.2773A= (p.Lys925=) c.2638A= (p.Lys880=) c.1627A= (p.Lys543=) | |
| 12 | g.101761626C>A | CA481576718 | GNPTAB | c.2853G>T (p.Arg951=) c.2772G>T (p.Arg924=) c.2637G>T (p.Arg879=) c.1626G>T (p.Arg542=) | dbSNP gnomAD v4 |
| 12 | g.101761626C= | CA2058953085 | GNPTAB | c.2853G= (p.Arg951=) c.2772G= (p.Arg924=) c.2637G= (p.Arg879=) c.1626G= (p.Arg542=) | |
| 12 | g.101761626C>G | CA481576719 | GNPTAB | c.2853G>C (p.Arg951=) c.2772G>C (p.Arg924=) c.2637G>C (p.Arg879=) c.1626G>C (p.Arg542=) | gnomAD v4 |
| 12 | g.101761626C>T | CA481576720 | GNPTAB | c.2853G>A (p.Arg951=) c.2772G>A (p.Arg924=) c.2637G>A (p.Arg879=) c.1626G>A (p.Arg542=) | |
| 12 | g.101761627C>A | CA386296211 | GNPTAB | c.2852G>T (p.Arg951Leu) c.2771G>T (p.Arg924Leu) c.2636G>T (p.Arg879Leu) c.1625G>T (p.Arg542Leu) | |
| 12 | g.101761627C= | CA2058953087 | GNPTAB | c.2852G= (p.Arg951=) c.2771G= (p.Arg924=) c.2636G= (p.Arg879=) c.1625G= (p.Arg542=) | |
| 12 | g.101761627C>G | CA386296212 | GNPTAB | c.2852G>C (p.Arg951Pro) c.2771G>C (p.Arg924Pro) c.2636G>C (p.Arg879Pro) c.1625G>C (p.Arg542Pro) | |
| 12 | g.101761627C>T | CA6746338 | GNPTAB | c.2852G>A (p.Arg951Gln) c.2771G>A (p.Arg924Gln) c.2636G>A (p.Arg879Gln) c.1625G>A (p.Arg542Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.101761628G>A | CA386296213 | GNPTAB | c.2851C>T (p.Arg951Trp) c.2770C>T (p.Arg924Trp) c.2635C>T (p.Arg879Trp) c.1624C>T (p.Arg542Trp) | gnomAD v4 |
| 12 | g.101761628G>C | CA386296214 | GNPTAB | c.2851C>G (p.Arg951Gly) c.2770C>G (p.Arg924Gly) c.2635C>G (p.Arg879Gly) c.1624C>G (p.Arg542Gly) | COSMIC |
| 12 | g.101761628G= | CA2058953089 | GNPTAB | c.2851C= (p.Arg951=) c.2770C= (p.Arg924=) c.2635C= (p.Arg879=) c.1624C= (p.Arg542=) | |
| 12 | g.101761628G>T | CA6746339 | GNPTAB | c.2851C>A (p.Arg951=) c.2770C>A (p.Arg924=) c.2635C>A (p.Arg879=) c.1624C>A (p.Arg542=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101761629C>A | CA481576722 | GNPTAB | c.2850G>T (p.Ser950=) c.2769G>T (p.Ser923=) c.2634G>T (p.Ser878=) c.1623G>T (p.Ser541=) | |
| 12 | g.101761629C= | CA2058953091 | GNPTAB | c.2850G= (p.Ser950=) c.2769G= (p.Ser923=) c.2634G= (p.Ser878=) c.1623G= (p.Ser541=) | |
| 12 | g.101761629C>G | CA481576723 | GNPTAB | c.2850G>C (p.Ser950=) c.2769G>C (p.Ser923=) c.2634G>C (p.Ser878=) c.1623G>C (p.Ser541=) | |
| 12 | g.101761629C>T | CA6746340 | GNPTAB | c.2850G>A (p.Ser950=) c.2769G>A (p.Ser923=) c.2634G>A (p.Ser878=) c.1623G>A (p.Ser541=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101761630G>A | CA242454311 | GNPTAB | c.2849C>T (p.Ser950Leu) c.2768C>T (p.Ser923Leu) c.2633C>T (p.Ser878Leu) c.1622C>T (p.Ser541Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101761630G>C | CA386296215 | GNPTAB | c.2849C>G (p.Ser950Trp) c.2768C>G (p.Ser923Trp) c.2633C>G (p.Ser878Trp) c.1622C>G (p.Ser541Trp) | |
| 12 | g.101761630G= | CA2058953094 | GNPTAB | c.2849C= (p.Ser950=) c.2768C= (p.Ser923=) c.2633C= (p.Ser878=) c.1622C= (p.Ser541=) | |
| 12 | g.101761630G>T | CA386296216 | GNPTAB | c.2849C>A (p.Ser950Ter) c.2768C>A (p.Ser923Ter) c.2633C>A (p.Ser878Ter) c.1622C>A (p.Ser541Ter) | ClinVar |
| 12 | g.101761631A>C | CA386296218 | GNPTAB | c.2848T>G (p.Ser950Ala) c.2767T>G (p.Ser923Ala) c.2632T>G (p.Ser878Ala) c.1621T>G (p.Ser541Ala) | |
| 12 | g.101761631A>G | CA386296219 | GNPTAB | c.2848T>C (p.Ser950Pro) c.2767T>C (p.Ser923Pro) c.2632T>C (p.Ser878Pro) c.1621T>C (p.Ser541Pro) | |
| 12 | g.101761631A>T | CA386296217 | GNPTAB | c.2848T>A (p.Ser950Thr) c.2767T>A (p.Ser923Thr) c.2632T>A (p.Ser878Thr) c.1621T>A (p.Ser541Thr) | |
| 12 | g.101761632T>A | CA481576729 | GNPTAB | c.2847A>T (p.Thr949=) c.2766A>T (p.Thr922=) c.2631A>T (p.Thr877=) c.1620A>T (p.Thr540=) | gnomAD v4 |
| 12 | g.101761632T>C | CA481576730 | GNPTAB | c.2847A>G (p.Thr949=) c.2766A>G (p.Thr922=) c.2631A>G (p.Thr877=) c.1620A>G (p.Thr540=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101761632T>G | CA481576731 | GNPTAB | c.2847A>C (p.Thr949=) c.2766A>C (p.Thr922=) c.2631A>C (p.Thr877=) c.1620A>C (p.Thr540=) | |
| 12 | g.101761633G>A | CA386296220 | GNPTAB | c.2846C>T (p.Thr949Ile) c.2765C>T (p.Thr922Ile) c.2630C>T (p.Thr877Ile) c.1619C>T (p.Thr540Ile) | |
| 12 | g.101761633G>C | CA386296221 | GNPTAB | c.2846C>G (p.Thr949Arg) c.2765C>G (p.Thr922Arg) c.2630C>G (p.Thr877Arg) c.1619C>G (p.Thr540Arg) | |
| 12 | g.101761633G>T | CA386296222 | GNPTAB | c.2846C>A (p.Thr949Lys) c.2765C>A (p.Thr922Lys) c.2630C>A (p.Thr877Lys) c.1619C>A (p.Thr540Lys) | |
| 12 | g.101761634T>A | CA386296223 | GNPTAB | c.2845A>T (p.Thr949Ser) c.2764A>T (p.Thr922Ser) c.2629A>T (p.Thr877Ser) c.1618A>T (p.Thr540Ser) | |
| 12 | g.101761634T>C | CA386296224 | GNPTAB | c.2845A>G (p.Thr949Ala) c.2764A>G (p.Thr922Ala) c.2629A>G (p.Thr877Ala) c.1618A>G (p.Thr540Ala) | |
| 12 | g.101761634T>G | CA386296225 | GNPTAB | c.2845A>C (p.Thr949Pro) c.2764A>C (p.Thr922Pro) c.2629A>C (p.Thr877Pro) c.1618A>C (p.Thr540Pro) | |
| 12 | g.101761635G>A | CA481576736 | GNPTAB | c.2844C>T (p.Phe948=) c.2763C>T (p.Phe921=) c.2628C>T (p.Phe876=) c.1617C>T (p.Phe539=) | |
| 12 | g.101761635G>C | CA386296226 | GNPTAB | c.2844C>G (p.Phe948Leu) c.2763C>G (p.Phe921Leu) c.2628C>G (p.Phe876Leu) c.1617C>G (p.Phe539Leu) | |
| 12 | g.101761635G>T | CA386296227 | GNPTAB | c.2844C>A (p.Phe948Leu) c.2763C>A (p.Phe921Leu) c.2628C>A (p.Phe876Leu) c.1617C>A (p.Phe539Leu) | |
| 12 | g.101761636A>C | CA386296228 | GNPTAB | c.2843T>G (p.Phe948Cys) c.2762T>G (p.Phe921Cys) c.2627T>G (p.Phe876Cys) c.1616T>G (p.Phe539Cys) | |
| 12 | g.101761636A>G | CA386296229 | GNPTAB | c.2843T>C (p.Phe948Ser) c.2762T>C (p.Phe921Ser) c.2627T>C (p.Phe876Ser) c.1616T>C (p.Phe539Ser) | |
| 12 | g.101761636A>T | CA386296230 | GNPTAB | c.2843T>A (p.Phe948Tyr) c.2762T>A (p.Phe921Tyr) c.2627T>A (p.Phe876Tyr) c.1616T>A (p.Phe539Tyr) | |
| 12 | g.101761637A>C | CA386296231 | GNPTAB | c.2842T>G (p.Phe948Val) c.2761T>G (p.Phe921Val) c.2626T>G (p.Phe876Val) c.1615T>G (p.Phe539Val) | |
| 12 | g.101761637A>G | CA386296232 | GNPTAB | c.2842T>C (p.Phe948Leu) c.2761T>C (p.Phe921Leu) c.2626T>C (p.Phe876Leu) c.1615T>C (p.Phe539Leu) | |
| 12 | g.101761637A>T | CA386296233 | GNPTAB | c.2842T>A (p.Phe948Ile) c.2761T>A (p.Phe921Ile) c.2626T>A (p.Phe876Ile) c.1615T>A (p.Phe539Ile) | |
| 12 | g.101761638T>A | CA481576741 | GNPTAB | c.2841A>T (p.Gly947=) c.2760A>T (p.Gly920=) c.2625A>T (p.Gly875=) c.1614A>T (p.Gly538=) | |
| 12 | g.101761638T>C | CA481576743 | GNPTAB | c.2841A>G (p.Gly947=) c.2760A>G (p.Gly920=) c.2625A>G (p.Gly875=) c.1614A>G (p.Gly538=) | |
| 12 | g.101761638T>G | CA6746341 | GNPTAB | c.2841A>C (p.Gly947=) c.2760A>C (p.Gly920=) c.2625A>C (p.Gly875=) c.1614A>C (p.Gly538=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101761638T= | CA2058953095 | GNPTAB | c.2841A= (p.Gly947=) c.2760A= (p.Gly920=) c.2625A= (p.Gly875=) c.1614A= (p.Gly538=) | |
| 12 | g.101761639C>A | CA386296234 | GNPTAB | c.2840G>T (p.Gly947Val) c.2759G>T (p.Gly920Val) c.2624G>T (p.Gly875Val) c.1613G>T (p.Gly538Val) | |
| 12 | g.101761639C>G | CA386296235 | GNPTAB | c.2840G>C (p.Gly947Ala) c.2759G>C (p.Gly920Ala) c.2624G>C (p.Gly875Ala) c.1613G>C (p.Gly538Ala) | |
| 12 | g.101761639C>T | CA386296236 | GNPTAB | c.2840G>A (p.Gly947Glu) c.2759G>A (p.Gly920Glu) c.2624G>A (p.Gly875Glu) c.1613G>A (p.Gly538Glu) | |
| 12 | g.101761640dup | CA2620428757 | GNPTAB | c.2840dup (p.Phe948IlefsTer15) c.2759dup (p.Phe921IlefsTer15) c.2624dup (p.Phe876IlefsTer15) c.1613dup (p.Phe539IlefsTer15) | gnomAD v4 |
| 12 | g.101761640C>A | CA386296237 | GNPTAB | c.2839G>T (p.Gly947Ter) c.2758G>T (p.Gly920Ter) c.2623G>T (p.Gly875Ter) c.1612G>T (p.Gly538Ter) | |
| 12 | g.101761640C>G | CA386296238 | GNPTAB | c.2839G>C (p.Gly947Arg) c.2758G>C (p.Gly920Arg) c.2623G>C (p.Gly875Arg) c.1612G>C (p.Gly538Arg) | |
| 12 | g.101761640C>T | CA386296239 | GNPTAB | c.2839G>A (p.Gly947Arg) c.2758G>A (p.Gly920Arg) c.2623G>A (p.Gly875Arg) c.1612G>A (p.Gly538Arg) | |
| 12 | g.101761641A>C | CA386296240 | GNPTAB | c.2838T>G (p.Phe946Leu) c.2757T>G (p.Phe919Leu) c.2622T>G (p.Phe874Leu) c.1611T>G (p.Phe537Leu) | |
| 12 | g.101761641A>G | CA481576748 | GNPTAB | c.2838T>C (p.Phe946=) c.2757T>C (p.Phe919=) c.2622T>C (p.Phe874=) c.1611T>C (p.Phe537=) | |
| 12 | g.101761641A>T | CA386296241 | GNPTAB | c.2838T>A (p.Phe946Leu) c.2757T>A (p.Phe919Leu) c.2622T>A (p.Phe874Leu) c.1611T>A (p.Phe537Leu) | |
| 12 | g.101761642A>C | CA386296242 | GNPTAB | c.2837T>G (p.Phe946Cys) c.2756T>G (p.Phe919Cys) c.2621T>G (p.Phe874Cys) c.1610T>G (p.Phe537Cys) | |
| 12 | g.101761642A>G | CA386296243 | GNPTAB | c.2837T>C (p.Phe946Ser) c.2756T>C (p.Phe919Ser) c.2621T>C (p.Phe874Ser) c.1610T>C (p.Phe537Ser) | |
| 12 | g.101761642A>T | CA386296244 | GNPTAB | c.2837T>A (p.Phe946Tyr) c.2756T>A (p.Phe919Tyr) c.2621T>A (p.Phe874Tyr) c.1610T>A (p.Phe537Tyr) | |
| 12 | g.101761643A>C | CA386296245 | GNPTAB | c.2836T>G (p.Phe946Val) c.2755T>G (p.Phe919Val) c.2620T>G (p.Phe874Val) c.1609T>G (p.Phe537Val) | gnomAD v4 |
| 12 | g.101761643A>G | CA386296246 | GNPTAB | c.2836T>C (p.Phe946Leu) c.2755T>C (p.Phe919Leu) c.2620T>C (p.Phe874Leu) c.1609T>C (p.Phe537Leu) | gnomAD v4 |
| 12 | g.101761643A>T | CA386296247 | GNPTAB | c.2836T>A (p.Phe946Ile) c.2755T>A (p.Phe919Ile) c.2620T>A (p.Phe874Ile) c.1609T>A (p.Phe537Ile) | |
| 12 | g.101761644C>A | CA386296249 | GNPTAB | c.2835G>T (p.Lys945Asn) c.2754G>T (p.Lys918Asn) c.2619G>T (p.Lys873Asn) c.1608G>T (p.Lys536Asn) | dbSNP gnomAD v4 |
| 12 | g.101761644C>G | CA386296248 | GNPTAB | c.2835G>C (p.Lys945Asn) c.2754G>C (p.Lys918Asn) c.2619G>C (p.Lys873Asn) c.1608G>C (p.Lys536Asn) | |
| 12 | g.101761644C>T | CA481576755 | GNPTAB | c.2835G>A (p.Lys945=) c.2754G>A (p.Lys918=) c.2619G>A (p.Lys873=) c.1608G>A (p.Lys536=) | |
| 12 | g.101761645T>A | CA386296250 | GNPTAB | c.2834A>T (p.Lys945Met) c.2753A>T (p.Lys918Met) c.2618A>T (p.Lys873Met) c.1607A>T (p.Lys536Met) | |
| 12 | g.101761645T>C | CA386296252 | GNPTAB | c.2834A>G (p.Lys945Arg) c.2753A>G (p.Lys918Arg) c.2618A>G (p.Lys873Arg) c.1607A>G (p.Lys536Arg) | |
| 12 | g.101761645T>G | CA386296251 | GNPTAB | c.2834A>C (p.Lys945Thr) c.2753A>C (p.Lys918Thr) c.2618A>C (p.Lys873Thr) c.1607A>C (p.Lys536Thr) | gnomAD v4 |
| 12 | g.101761646T>A | CA386296253 | GNPTAB | c.2833A>T (p.Lys945Ter) c.2752A>T (p.Lys918Ter) c.2617A>T (p.Lys873Ter) c.1606A>T (p.Lys536Ter) | |
| 12 | g.101761646T>C | CA386296254 | GNPTAB | c.2833A>G (p.Lys945Glu) c.2752A>G (p.Lys918Glu) c.2617A>G (p.Lys873Glu) c.1606A>G (p.Lys536Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101761646T>G | CA386296255 | GNPTAB | c.2833A>C (p.Lys945Gln) c.2752A>C (p.Lys918Gln) c.2617A>C (p.Lys873Gln) c.1606A>C (p.Lys536Gln) | gnomAD v4 |
| 12 | g.101761646T= | CA2058953097 | GNPTAB | c.2833A= (p.Lys945=) c.2752A= (p.Lys918=) c.2617A= (p.Lys873=) c.1606A= (p.Lys536=) | |
| 12 | g.101761647G>A | CA481576756 | GNPTAB | c.2832C>T (p.Ser944=) c.2751C>T (p.Ser917=) c.2616C>T (p.Ser872=) c.1605C>T (p.Ser535=) | |
| 12 | g.101761647G>C | CA386296256 | GNPTAB | c.2832C>G (p.Ser944Arg) c.2751C>G (p.Ser917Arg) c.2616C>G (p.Ser872Arg) c.1605C>G (p.Ser535Arg) | |
| 12 | g.101761647G>T | CA386296257 | GNPTAB | c.2832C>A (p.Ser944Arg) c.2751C>A (p.Ser917Arg) c.2616C>A (p.Ser872Arg) c.1605C>A (p.Ser535Arg) | |
| 12 | g.101761648C>A | CA386296258 | GNPTAB | c.2831G>T (p.Ser944Ile) c.2750G>T (p.Ser917Ile) c.2615G>T (p.Ser872Ile) c.1604G>T (p.Ser535Ile) | |
| 12 | g.101761648C= | CA2058953100 | GNPTAB | c.2831G= (p.Ser944=) c.2750G= (p.Ser917=) c.2615G= (p.Ser872=) c.1604G= (p.Ser535=) | |
| 12 | g.101761648C>G | CA386296259 | GNPTAB | c.2831G>C (p.Ser944Thr) c.2750G>C (p.Ser917Thr) c.2615G>C (p.Ser872Thr) c.1604G>C (p.Ser535Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101761648C>T | CA386296260 | GNPTAB | c.2831G>A (p.Ser944Asn) c.2750G>A (p.Ser917Asn) c.2615G>A (p.Ser872Asn) c.1604G>A (p.Ser535Asn) | |
| 12 | g.101761649T>A | CA386296261 | GNPTAB | c.2830A>T (p.Ser944Cys) c.2749A>T (p.Ser917Cys) c.2614A>T (p.Ser872Cys) c.1603A>T (p.Ser535Cys) | |
| 12 | g.101761649T>C | CA386296262 | GNPTAB | c.2830A>G (p.Ser944Gly) c.2749A>G (p.Ser917Gly) c.2614A>G (p.Ser872Gly) c.1603A>G (p.Ser535Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101761649T>G | CA386296263 | GNPTAB | c.2830A>C (p.Ser944Arg) c.2749A>C (p.Ser917Arg) c.2614A>C (p.Ser872Arg) c.1603A>C (p.Ser535Arg) | ClinVar |
| 12 | g.101761649T= | CA2058953103 | GNPTAB | c.2830A= (p.Ser944=) c.2749A= (p.Ser917=) c.2614A= (p.Ser872=) c.1603A= (p.Ser535=) | |
| 12 | g.101761650A= | CA2058953105 | GNPTAB | c.2829T= (p.Asn943=) c.2748T= (p.Asn916=) c.2613T= (p.Asn871=) c.1602T= (p.Asn534=) | |
| 12 | g.101761650A>C | CA386296265 | GNPTAB | c.2829T>G (p.Asn943Lys) c.2748T>G (p.Asn916Lys) c.2613T>G (p.Asn871Lys) c.1602T>G (p.Asn534Lys) | |
| 12 | g.101761650A>G | CA242454331 | GNPTAB | c.2829T>C (p.Asn943=) c.2748T>C (p.Asn916=) c.2613T>C (p.Asn871=) c.1602T>C (p.Asn534=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101761650A>T | CA386296264 | GNPTAB | c.2829T>A (p.Asn943Lys) c.2748T>A (p.Asn916Lys) c.2613T>A (p.Asn871Lys) c.1602T>A (p.Asn534Lys) | gnomAD v4 |
| 12 | g.101761651T>A | CA386296266 | GNPTAB | c.2828A>T (p.Asn943Ile) c.2747A>T (p.Asn916Ile) c.2612A>T (p.Asn871Ile) c.1601A>T (p.Asn534Ile) | |
| 12 | g.101761651T>C | CA386296267 | GNPTAB | c.2828A>G (p.Asn943Ser) c.2747A>G (p.Asn916Ser) c.2612A>G (p.Asn871Ser) c.1601A>G (p.Asn534Ser) | |
| 12 | g.101761651T>G | CA386296268 | GNPTAB | c.2828A>C (p.Asn943Thr) c.2747A>C (p.Asn916Thr) c.2612A>C (p.Asn871Thr) c.1601A>C (p.Asn534Thr) | |
| 12 | g.101761652T>A | CA386296269 | GNPTAB | c.2827A>T (p.Asn943Tyr) c.2746A>T (p.Asn916Tyr) c.2611A>T (p.Asn871Tyr) c.1600A>T (p.Asn534Tyr) | |
| 12 | g.101761652T>C | CA386296270 | GNPTAB | c.2827A>G (p.Asn943Asp) c.2746A>G (p.Asn916Asp) c.2611A>G (p.Asn871Asp) c.1600A>G (p.Asn534Asp) | |
| 12 | g.101761652T>G | CA386296271 | GNPTAB | c.2827A>C (p.Asn943His) c.2746A>C (p.Asn916His) c.2611A>C (p.Asn871His) c.1600A>C (p.Asn534His) | |
| 12 | g.101761653T>A | CA481576760 | GNPTAB | c.2826A>T (p.Leu942=) c.2745A>T (p.Leu915=) c.2610A>T (p.Leu870=) c.1599A>T (p.Leu533=) | |
| 12 | g.101761653T>C | CA481576761 | GNPTAB | c.2826A>G (p.Leu942=) c.2745A>G (p.Leu915=) c.2610A>G (p.Leu870=) c.1599A>G (p.Leu533=) | |
| 12 | g.101761653T>G | CA481576762 | GNPTAB | c.2826A>C (p.Leu942=) c.2745A>C (p.Leu915=) c.2610A>C (p.Leu870=) c.1599A>C (p.Leu533=) | |
| 12 | g.101761654A>C | CA386296272 | GNPTAB | c.2825T>G (p.Leu942Arg) c.2744T>G (p.Leu915Arg) c.2609T>G (p.Leu870Arg) c.1598T>G (p.Leu533Arg) | |
| 12 | g.101761654A>G | CA386296273 | GNPTAB | c.2825T>C (p.Leu942Pro) c.2744T>C (p.Leu915Pro) c.2609T>C (p.Leu870Pro) c.1598T>C (p.Leu533Pro) | ClinVar dbSNP |
| 12 | g.101761654A>T | CA386296274 | GNPTAB | c.2825T>A (p.Leu942Gln) c.2744T>A (p.Leu915Gln) c.2609T>A (p.Leu870Gln) c.1598T>A (p.Leu533Gln) | |
| 12 | g.101761655G>A | CA481576764 | GNPTAB | c.2824C>T (p.Leu942=) c.2743C>T (p.Leu915=) c.2608C>T (p.Leu870=) c.1597C>T (p.Leu533=) | |
| 12 | g.101761655G>C | CA386296275 | GNPTAB | c.2824C>G (p.Leu942Val) c.2743C>G (p.Leu915Val) c.2608C>G (p.Leu870Val) c.1597C>G (p.Leu533Val) | |
| 12 | g.101761655G>T | CA386296276 | GNPTAB | c.2824C>A (p.Leu942Ile) c.2743C>A (p.Leu915Ile) c.2608C>A (p.Leu870Ile) c.1597C>A (p.Leu533Ile) | gnomAD v4 COSMIC |
| 12 | g.101761656A>C | CA386296277 | GNPTAB | c.2823T>G (p.Ile941Met) c.2742T>G (p.Ile914Met) c.2607T>G (p.Ile869Met) c.1596T>G (p.Ile532Met) | gnomAD v4 |
| 12 | g.101761656A>G | CA481576768 | GNPTAB | c.2823T>C (p.Ile941=) c.2742T>C (p.Ile914=) c.2607T>C (p.Ile869=) c.1596T>C (p.Ile532=) | |
| 12 | g.101761656A>T | CA481576769 | GNPTAB | c.2823T>A (p.Ile941=) c.2742T>A (p.Ile914=) c.2607T>A (p.Ile869=) c.1596T>A (p.Ile532=) | |
| 12 | g.101761657A>C | CA386296280 | GNPTAB | c.2822T>G (p.Ile941Ser) c.2741T>G (p.Ile914Ser) c.2606T>G (p.Ile869Ser) c.1595T>G (p.Ile532Ser) | |
| 12 | g.101761657A>G | CA386296279 | GNPTAB | c.2822T>C (p.Ile941Thr) c.2741T>C (p.Ile914Thr) c.2606T>C (p.Ile869Thr) c.1595T>C (p.Ile532Thr) | COSMIC |
| 12 | g.101761657A>T | CA386296278 | GNPTAB | c.2822T>A (p.Ile941Asn) c.2741T>A (p.Ile914Asn) c.2606T>A (p.Ile869Asn) c.1595T>A (p.Ile532Asn) | |
| 12 | g.101761658T>A | CA386296281 | GNPTAB | c.2821A>T (p.Ile941Phe) c.2740A>T (p.Ile914Phe) c.2605A>T (p.Ile869Phe) c.1594A>T (p.Ile532Phe) | |
| 12 | g.101761658T>C | CA386296282 | GNPTAB | c.2821A>G (p.Ile941Val) c.2740A>G (p.Ile914Val) c.2605A>G (p.Ile869Val) c.1594A>G (p.Ile532Val) | |
| 12 | g.101761658T>G | CA386296283 | GNPTAB | c.2821A>C (p.Ile941Leu) c.2740A>C (p.Ile914Leu) c.2605A>C (p.Ile869Leu) c.1594A>C (p.Ile532Leu) | |
| 12 | g.101761661dup | CA2695217202 | GNPTAB | c.2821dup (p.Ile941AsnfsTer4) c.2740dup (p.Ile914AsnfsTer4) c.2605dup (p.Ile869AsnfsTer4) c.1594dup (p.Ile532AsnfsTer4) | |
| 12 | g.101761659T>A | CA386296284 | GNPTAB | c.2820A>T (p.Lys940Asn) c.2739A>T (p.Lys913Asn) c.2604A>T (p.Lys868Asn) c.1593A>T (p.Lys531Asn) | |
| 12 | g.101761659T>C | CA481576772 | GNPTAB | c.2820A>G (p.Lys940=) c.2739A>G (p.Lys913=) c.2604A>G (p.Lys868=) c.1593A>G (p.Lys531=) | gnomAD v4 |
| 12 | g.101761659T>G | CA386296285 | GNPTAB | c.2820A>C (p.Lys940Asn) c.2739A>C (p.Lys913Asn) c.2604A>C (p.Lys868Asn) c.1593A>C (p.Lys531Asn) | |
| 12 | g.101761660T>A | CA386296286 | GNPTAB | c.2819A>T (p.Lys940Ile) c.2738A>T (p.Lys913Ile) c.2603A>T (p.Lys868Ile) c.1592A>T (p.Lys531Ile) | |
| 12 | g.101761660T>C | CA386296287 | GNPTAB | c.2819A>G (p.Lys940Arg) c.2738A>G (p.Lys913Arg) c.2603A>G (p.Lys868Arg) c.1592A>G (p.Lys531Arg) | |
| 12 | g.101761660T>G | CA386296288 | GNPTAB | c.2819A>C (p.Lys940Thr) c.2738A>C (p.Lys913Thr) c.2603A>C (p.Lys868Thr) c.1592A>C (p.Lys531Thr) | gnomAD v4 |
| 12 | g.101761661T>A | CA386296289 | GNPTAB | c.2818A>T (p.Lys940Ter) c.2737A>T (p.Lys913Ter) c.2602A>T (p.Lys868Ter) c.1591A>T (p.Lys531Ter) | |
| 12 | g.101761661T>C | CA386296290 | GNPTAB | c.2818A>G (p.Lys940Glu) c.2737A>G (p.Lys913Glu) c.2602A>G (p.Lys868Glu) c.1591A>G (p.Lys531Glu) | |
| 12 | g.101761661T>G | CA6746342 | GNPTAB | c.2818A>C (p.Lys940Gln) c.2737A>C (p.Lys913Gln) c.2602A>C (p.Lys868Gln) c.1591A>C (p.Lys531Gln) | dbSNP ExAC gnomAD v2 |
| 12 | g.101761661T= | CA2058953110 | GNPTAB | c.2818A= (p.Lys940=) c.2737A= (p.Lys913=) c.2602A= (p.Lys868=) c.1591A= (p.Lys531=) | |
| 12 | g.101761662A>C | CA386296291 | GNPTAB | c.2817T>G (p.Asn939Lys) c.2736T>G (p.Asn912Lys) c.2601T>G (p.Asn867Lys) c.1590T>G (p.Asn530Lys) | |
| 12 | g.101761662A>G | CA481576777 | GNPTAB | c.2817T>C (p.Asn939=) c.2736T>C (p.Asn912=) c.2601T>C (p.Asn867=) c.1590T>C (p.Asn530=) | gnomAD v4 |
| 12 | g.101761662A>T | CA386296292 | GNPTAB | c.2817T>A (p.Asn939Lys) c.2736T>A (p.Asn912Lys) c.2601T>A (p.Asn867Lys) c.1590T>A (p.Asn530Lys) | |
| 12 | g.101761663T>A | CA386296295 | GNPTAB | c.2816A>T (p.Asn939Ile) c.2735A>T (p.Asn912Ile) c.2600A>T (p.Asn867Ile) c.1589A>T (p.Asn530Ile) | |
| 12 | g.101761663T>C | CA386296293 | GNPTAB | c.2816A>G (p.Asn939Ser) c.2735A>G (p.Asn912Ser) c.2600A>G (p.Asn867Ser) c.1589A>G (p.Asn530Ser) | |
| 12 | g.101761663T>G | CA386296294 | GNPTAB | c.2816A>C (p.Asn939Thr) c.2735A>C (p.Asn912Thr) c.2600A>C (p.Asn867Thr) c.1589A>C (p.Asn530Thr) | |
| 12 | g.101761664T>A | CA386296296 | GNPTAB | c.2815A>T (p.Asn939Tyr) c.2734A>T (p.Asn912Tyr) c.2599A>T (p.Asn867Tyr) c.1588A>T (p.Asn530Tyr) | |
| 12 | g.101761664T>C | CA386296297 | GNPTAB | c.2815A>G (p.Asn939Asp) c.2734A>G (p.Asn912Asp) c.2599A>G (p.Asn867Asp) c.1588A>G (p.Asn530Asp) | |
| 12 | g.101761664T>G | CA386296298 | GNPTAB | c.2815A>C (p.Asn939His) c.2734A>C (p.Asn912His) c.2599A>C (p.Asn867His) c.1588A>C (p.Asn530His) | |
| 12 | g.101761665T>A | CA481576780 | GNPTAB | c.2814A>T (p.Val938=) c.2733A>T (p.Val911=) c.2598A>T (p.Val866=) c.1587A>T (p.Val529=) | |
| 12 | g.101761665T>C | CA481576781 | GNPTAB | c.2814A>G (p.Val938=) c.2733A>G (p.Val911=) c.2598A>G (p.Val866=) c.1587A>G (p.Val529=) | |
| 12 | g.101761665T>G | CA481576784 | GNPTAB | c.2814A>C (p.Val938=) c.2733A>C (p.Val911=) c.2598A>C (p.Val866=) c.1587A>C (p.Val529=) | |
| 12 | g.101761666A>C | CA386296299 | GNPTAB | c.2813T>G (p.Val938Gly) c.2732T>G (p.Val911Gly) c.2597T>G (p.Val866Gly) c.1586T>G (p.Val529Gly) | |
| 12 | g.101761666A>G | CA386296300 | GNPTAB | c.2813T>C (p.Val938Ala) c.2732T>C (p.Val911Ala) c.2597T>C (p.Val866Ala) c.1586T>C (p.Val529Ala) | |
| 12 | g.101761666A>T | CA386296301 | GNPTAB | c.2813T>A (p.Val938Glu) c.2732T>A (p.Val911Glu) c.2597T>A (p.Val866Glu) c.1586T>A (p.Val529Glu) | |
| 12 | g.101761667C>A | CA386296302 | GNPTAB | c.2812G>T (p.Val938Leu) c.2731G>T (p.Val911Leu) c.2596G>T (p.Val866Leu) c.1585G>T (p.Val529Leu) | |
| 12 | g.101761667C= | CA2058953113 | GNPTAB | c.2812G= (p.Val938=) c.2731G= (p.Val911=) c.2596G= (p.Val866=) c.1585G= (p.Val529=) | |
| 12 | g.101761667C>G | CA386296303 | GNPTAB | c.2812G>C (p.Val938Leu) c.2731G>C (p.Val911Leu) c.2596G>C (p.Val866Leu) c.1585G>C (p.Val529Leu) | |
| 12 | g.101761667C>T | CA6746343 | GNPTAB | c.2812G>A (p.Val938Ile) c.2731G>A (p.Val911Ile) c.2596G>A (p.Val866Ile) c.1585G>A (p.Val529Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101761667_101761668insCATGCTAAATTT | CA2058953121 | GNPTAB | c.2811_2812insAAATTTAGCATG (p.Tyr937_Val938insLysPheSerMet) c.2730_2731insAAATTTAGCATG (p.Tyr910_Val911insLysPheSerMet) c.2595_2596insAAATTTAGCATG (p.Tyr865_Val866insLysPheSerMet) c.1584_1585insAAATTTAGCATG (p.Tyr528_Val529insLysPheSerMet) | dbSNP |
| 12 | g.101761668A= | CA2058953123 | GNPTAB | c.2811T= (p.Tyr937=) c.2730T= (p.Tyr910=) c.2595T= (p.Tyr865=) c.1584T= (p.Tyr528=) | |
| 12 | g.101761668A>C | CA386296304 | GNPTAB | c.2811T>G (p.Tyr937Ter) c.2730T>G (p.Tyr910Ter) c.2595T>G (p.Tyr865Ter) c.1584T>G (p.Tyr528Ter) | |
| 12 | g.101761668A>G | CA242454332 | GNPTAB | c.2811T>C (p.Tyr937=) c.2730T>C (p.Tyr910=) c.2595T>C (p.Tyr865=) c.1584T>C (p.Tyr528=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101761668A>T | CA386296305 | GNPTAB | c.2811T>A (p.Tyr937Ter) c.2730T>A (p.Tyr910Ter) c.2595T>A (p.Tyr865Ter) c.1584T>A (p.Tyr528Ter) | gnomAD v4 |
| 12 | g.101761669T>A | CA386296306 | GNPTAB | c.2810A>T (p.Tyr937Phe) c.2729A>T (p.Tyr910Phe) c.2594A>T (p.Tyr865Phe) c.1583A>T (p.Tyr528Phe) | |
| 12 | g.101761669T>C | CA386296308 | GNPTAB | c.2810A>G (p.Tyr937Cys) c.2729A>G (p.Tyr910Cys) c.2594A>G (p.Tyr865Cys) c.1583A>G (p.Tyr528Cys) | gnomAD v4 |
| 12 | g.101761669T>G | CA386296307 | GNPTAB | c.2810A>C (p.Tyr937Ser) c.2729A>C (p.Tyr910Ser) c.2594A>C (p.Tyr865Ser) c.1583A>C (p.Tyr528Ser) | |
| 12 | g.101761670A>C | CA386296309 | GNPTAB | c.2809T>G (p.Tyr937Asp) c.2728T>G (p.Tyr910Asp) c.2593T>G (p.Tyr865Asp) c.1582T>G (p.Tyr528Asp) | |
| 12 | g.101761670A>G | CA386296311 | GNPTAB | c.2809T>C (p.Tyr937His) c.2728T>C (p.Tyr910His) c.2593T>C (p.Tyr865His) c.1582T>C (p.Tyr528His) | gnomAD v4 |
| 12 | g.101761670A>T | CA386296310 | GNPTAB | c.2809T>A (p.Tyr937Asn) c.2728T>A (p.Tyr910Asn) c.2593T>A (p.Tyr865Asn) c.1582T>A (p.Tyr528Asn) | |
| 12 | g.101761671T>A | CA386296312 | GNPTAB | c.2808A>T (p.Arg936Ser) c.2727A>T (p.Arg909Ser) c.2592A>T (p.Arg864Ser) c.1581A>T (p.Arg527Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101761671T>C | CA481576789 | GNPTAB | c.2808A>G (p.Arg936=) c.2727A>G (p.Arg909=) c.2592A>G (p.Arg864=) c.1581A>G (p.Arg527=) | gnomAD v4 |
| 12 | g.101761671T>G | CA386296313 | GNPTAB | c.2808A>C (p.Arg936Ser) c.2727A>C (p.Arg909Ser) c.2592A>C (p.Arg864Ser) c.1581A>C (p.Arg527Ser) | dbSNP |
| 12 | g.101761671T= | CA2058953132 | GNPTAB | c.2808A= (p.Arg936=) c.2727A= (p.Arg909=) c.2592A= (p.Arg864=) c.1581A= (p.Arg527=) | |
| 12 | g.101761672C>A | CA386296314 | GNPTAB | c.2807G>T (p.Arg936Ile) c.2726G>T (p.Arg909Ile) c.2591G>T (p.Arg864Ile) c.1580G>T (p.Arg527Ile) | |
| 12 | g.101761672C= | CA2058953138 | GNPTAB | c.2807G= (p.Arg936=) c.2726G= (p.Arg909=) c.2591G= (p.Arg864=) c.1580G= (p.Arg527=) | |
| 12 | g.101761672C>G | CA386296316 | GNPTAB | c.2807G>C (p.Arg936Thr) c.2726G>C (p.Arg909Thr) c.2591G>C (p.Arg864Thr) c.1580G>C (p.Arg527Thr) | |
| 12 | g.101761672C>T | CA386296315 | GNPTAB | c.2807G>A (p.Arg936Lys) c.2726G>A (p.Arg909Lys) c.2591G>A (p.Arg864Lys) c.1580G>A (p.Arg527Lys) | dbSNP |
| 12 | g.101761672_101761673delinsCT | CA2058953136 | GNPTAB | c.2806_2807delinsAG (p.Arg936=) c.2725_2726delinsAG (p.Arg909=) c.2590_2591delinsAG (p.Arg864=) c.1579_1580delinsAG (p.Arg527=) | |
| 12 | g.101761673del | CA682784088 | GNPTAB | c.2806del (p.Arg936AspfsTer3) c.2725del (p.Arg909AspfsTer3) c.2590del (p.Arg864AspfsTer3) c.1579del (p.Arg527AspfsTer3) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101761673T>A | CA386296317 | GNPTAB | c.2806A>T (p.Arg936Ter) c.2725A>T (p.Arg909Ter) c.2590A>T (p.Arg864Ter) c.1579A>T (p.Arg527Ter) | |
| 12 | g.101761673T>C | CA386296318 | GNPTAB | c.2806A>G (p.Arg936Gly) c.2725A>G (p.Arg909Gly) c.2590A>G (p.Arg864Gly) c.1579A>G (p.Arg527Gly) | gnomAD v4 |
| 12 | g.101761673T>G | CA481576791 | GNPTAB | c.2806A>C (p.Arg936=) c.2725A>C (p.Arg909=) c.2590A>C (p.Arg864=) c.1579A>C (p.Arg527=) | |
| 12 | g.101761674G>A | CA481576795 | GNPTAB | c.2805C>T (p.Leu935=) c.2724C>T (p.Leu908=) c.2589C>T (p.Leu863=) c.1578C>T (p.Leu526=) | COSMIC |
| 12 | g.101761674G>C | CA481576796 | GNPTAB | c.2805C>G (p.Leu935=) c.2724C>G (p.Leu908=) c.2589C>G (p.Leu863=) c.1578C>G (p.Leu526=) | |
| 12 | g.101761674G>T | CA481576797 | GNPTAB | c.2805C>A (p.Leu935=) c.2724C>A (p.Leu908=) c.2589C>A (p.Leu863=) c.1578C>A (p.Leu526=) | |
| 12 | g.101761675A>C | CA386296319 | GNPTAB | c.2804T>G (p.Leu935Arg) c.2723T>G (p.Leu908Arg) c.2588T>G (p.Leu863Arg) c.1577T>G (p.Leu526Arg) | |
| 12 | g.101761675A>G | CA386296320 | GNPTAB | c.2804T>C (p.Leu935Pro) c.2723T>C (p.Leu908Pro) c.2588T>C (p.Leu863Pro) c.1577T>C (p.Leu526Pro) | |
| 12 | g.101761675A>T | CA386296321 | GNPTAB | c.2804T>A (p.Leu935His) c.2723T>A (p.Leu908His) c.2588T>A (p.Leu863His) c.1577T>A (p.Leu526His) | |
| 12 | g.101761676G>A | CA386296322 | GNPTAB | c.2803C>T (p.Leu935Phe) c.2722C>T (p.Leu908Phe) c.2587C>T (p.Leu863Phe) c.1576C>T (p.Leu526Phe) | gnomAD v4 |
| 12 | g.101761676G>C | CA386296323 | GNPTAB | c.2803C>G (p.Leu935Val) c.2722C>G (p.Leu908Val) c.2587C>G (p.Leu863Val) c.1576C>G (p.Leu526Val) | |
| 12 | g.101761676G>T | CA386296324 | GNPTAB | c.2803C>A (p.Leu935Ile) c.2722C>A (p.Leu908Ile) c.2587C>A (p.Leu863Ile) c.1576C>A (p.Leu526Ile) | |
| 12 | g.101761677G>A | CA481576799 | GNPTAB | c.2802C>T (p.Ser934=) c.2721C>T (p.Ser907=) c.2586C>T (p.Ser862=) c.1575C>T (p.Ser525=) | ClinVar |
| 12 | g.101761677G>C | CA481576802 | GNPTAB | c.2802C>G (p.Ser934=) c.2721C>G (p.Ser907=) c.2586C>G (p.Ser862=) c.1575C>G (p.Ser525=) | |
| 12 | g.101761677G>T | CA481576804 | GNPTAB | c.2802C>A (p.Ser934=) c.2721C>A (p.Ser907=) c.2586C>A (p.Ser862=) c.1575C>A (p.Ser525=) | |
| 12 | g.101761678G>A | CA386296325 | GNPTAB | c.2801C>T (p.Ser934Phe) c.2720C>T (p.Ser907Phe) c.2585C>T (p.Ser862Phe) c.1574C>T (p.Ser525Phe) | |
| 12 | g.101761678G>C | CA386296326 | GNPTAB | c.2801C>G (p.Ser934Cys) c.2720C>G (p.Ser907Cys) c.2585C>G (p.Ser862Cys) c.1574C>G (p.Ser525Cys) | |
| 12 | g.101761678G>T | CA386296327 | GNPTAB | c.2801C>A (p.Ser934Tyr) c.2720C>A (p.Ser907Tyr) c.2585C>A (p.Ser862Tyr) c.1574C>A (p.Ser525Tyr) | |
| 12 | g.101761679A>C | CA386296330 | GNPTAB | c.2800T>G (p.Ser934Ala) c.2719T>G (p.Ser907Ala) c.2584T>G (p.Ser862Ala) c.1573T>G (p.Ser525Ala) | |
| 12 | g.101761679A>G | CA386296329 | GNPTAB | c.2800T>C (p.Ser934Pro) c.2719T>C (p.Ser907Pro) c.2584T>C (p.Ser862Pro) c.1573T>C (p.Ser525Pro) | |
| 12 | g.101761679A>T | CA386296328 | GNPTAB | c.2800T>A (p.Ser934Thr) c.2719T>A (p.Ser907Thr) c.2584T>A (p.Ser862Thr) c.1573T>A (p.Ser525Thr) | |
| 12 | g.101761680A>C | CA386296331 | GNPTAB | c.2799T>G (p.Asp933Glu) c.2718T>G (p.Asp906Glu) c.2583T>G (p.Asp861Glu) c.1572T>G (p.Asp524Glu) | |
| 12 | g.101761680A>G | CA481576806 | GNPTAB | c.2799T>C (p.Asp933=) c.2718T>C (p.Asp906=) c.2583T>C (p.Asp861=) c.1572T>C (p.Asp524=) | |
| 12 | g.101761680A>T | CA386296332 | GNPTAB | c.2799T>A (p.Asp933Glu) c.2718T>A (p.Asp906Glu) c.2583T>A (p.Asp861Glu) c.1572T>A (p.Asp524Glu) | ClinVar dbSNP |
| 12 | g.101761681T>A | CA386296333 | GNPTAB | c.2798A>T (p.Asp933Val) c.2717A>T (p.Asp906Val) c.2582A>T (p.Asp861Val) c.1571A>T (p.Asp524Val) | |
| 12 | g.101761681T>C | CA386296334 | GNPTAB | c.2798A>G (p.Asp933Gly) c.2717A>G (p.Asp906Gly) c.2582A>G (p.Asp861Gly) c.1571A>G (p.Asp524Gly) | |
| 12 | g.101761681T>G | CA386296335 | GNPTAB | c.2798A>C (p.Asp933Ala) c.2717A>C (p.Asp906Ala) c.2582A>C (p.Asp861Ala) c.1571A>C (p.Asp524Ala) | |
| 12 | g.101761682C>A | CA386296336 | GNPTAB | c.2797G>T (p.Asp933Tyr) c.2716G>T (p.Asp906Tyr) c.2581G>T (p.Asp861Tyr) c.1570G>T (p.Asp524Tyr) | |
| 12 | g.101761682C= | CA2058953145 | GNPTAB | c.2797G= (p.Asp933=) c.2716G= (p.Asp906=) c.2581G= (p.Asp861=) c.1570G= (p.Asp524=) | |
| 12 | g.101761682C>G | CA386296337 | GNPTAB | c.2797G>C (p.Asp933His) c.2716G>C (p.Asp906His) c.2581G>C (p.Asp861His) c.1570G>C (p.Asp524His) | |
| 12 | g.101761682C>T | CA386296338 | GNPTAB | c.2797G>A (p.Asp933Asn) c.2716G>A (p.Asp906Asn) c.2581G>A (p.Asp861Asn) c.1570G>A (p.Asp524Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101761683T>A | CA481576810 | GNPTAB | c.2796A>T (p.Ala932=) c.2715A>T (p.Ala905=) c.2580A>T (p.Ala860=) c.1569A>T (p.Ala523=) | |
| 12 | g.101761683T>C | CA481576811 | GNPTAB | c.2796A>G (p.Ala932=) c.2715A>G (p.Ala905=) c.2580A>G (p.Ala860=) c.1569A>G (p.Ala523=) | |
| 12 | g.101761683T>G | CA481576812 | GNPTAB | c.2796A>C (p.Ala932=) c.2715A>C (p.Ala905=) c.2580A>C (p.Ala860=) c.1569A>C (p.Ala523=) | |
| 12 | g.101761683_101761685delinsAA | CA2580085678 | GNPTAB | c.2794_2796delinsTT (p.Ala932LeufsTer7) c.2713_2715delinsTT (p.Ala905LeufsTer7) c.2578_2580delinsTT (p.Ala860LeufsTer7) c.1567_1569delinsTT (p.Ala523LeufsTer7) | ClinVar |
| 12 | g.101761684G>A | CA386296339 | GNPTAB | c.2795C>T (p.Ala932Val) c.2714C>T (p.Ala905Val) c.2579C>T (p.Ala860Val) c.1568C>T (p.Ala523Val) | |
| 12 | g.101761684G>C | CA386296340 | GNPTAB | c.2795C>G (p.Ala932Gly) c.2714C>G (p.Ala905Gly) c.2579C>G (p.Ala860Gly) c.1568C>G (p.Ala523Gly) | |
| 12 | g.101761684G>T | CA386296341 | GNPTAB | c.2795C>A (p.Ala932Glu) c.2714C>A (p.Ala905Glu) c.2579C>A (p.Ala860Glu) c.1568C>A (p.Ala523Glu) | |
| 12 | g.101761685C>A | CA386296343 | GNPTAB | c.2794G>T (p.Ala932Ser) c.2713G>T (p.Ala905Ser) c.2578G>T (p.Ala860Ser) c.1567G>T (p.Ala523Ser) | |
| 12 | g.101761685C>G | CA386296344 | GNPTAB | c.2794G>C (p.Ala932Pro) c.2713G>C (p.Ala905Pro) c.2578G>C (p.Ala860Pro) c.1567G>C (p.Ala523Pro) | |
| 12 | g.101761685C>T | CA386296342 | GNPTAB | c.2794G>A (p.Ala932Thr) c.2713G>A (p.Ala905Thr) c.2578G>A (p.Ala860Thr) c.1567G>A (p.Ala523Thr) | |
| 12 | g.101761686A>C | CA386296345 | GNPTAB | c.2793T>G (p.Phe931Leu) c.2712T>G (p.Phe904Leu) c.2577T>G (p.Phe859Leu) c.1566T>G (p.Phe522Leu) | |
| 12 | g.101761686A>G | CA481576813 | GNPTAB | c.2793T>C (p.Phe931=) c.2712T>C (p.Phe904=) c.2577T>C (p.Phe859=) c.1566T>C (p.Phe522=) | |
| 12 | g.101761686A>T | CA386296346 | GNPTAB | c.2793T>A (p.Phe931Leu) c.2712T>A (p.Phe904Leu) c.2577T>A (p.Phe859Leu) c.1566T>A (p.Phe522Leu) | |
| 12 | g.101761688dup | CA2620428758 | GNPTAB | c.2793dup (p.Ala932CysfsTer9) c.2712dup (p.Ala905CysfsTer9) c.2577dup (p.Ala860CysfsTer9) c.1566dup (p.Ala523CysfsTer9) | gnomAD v4 |
| 12 | g.101761687A>C | CA386296347 | GNPTAB | c.2792T>G (p.Phe931Cys) c.2711T>G (p.Phe904Cys) c.2576T>G (p.Phe859Cys) c.1565T>G (p.Phe522Cys) | |
| 12 | g.101761687A>G | CA386296348 | GNPTAB | c.2792T>C (p.Phe931Ser) c.2711T>C (p.Phe904Ser) c.2576T>C (p.Phe859Ser) c.1565T>C (p.Phe522Ser) | |
| 12 | g.101761687A>T | CA386296349 | GNPTAB | c.2792T>A (p.Phe931Tyr) c.2711T>A (p.Phe904Tyr) c.2576T>A (p.Phe859Tyr) c.1565T>A (p.Phe522Tyr) | |
| 12 | g.101761688A= | CA2058953148 | GNPTAB | c.2791T= (p.Phe931=) c.2710T= (p.Phe904=) c.2575T= (p.Phe859=) c.1564T= (p.Phe522=) | |
| 12 | g.101761688A>C | CA386296350 | GNPTAB | c.2791T>G (p.Phe931Val) c.2710T>G (p.Phe904Val) c.2575T>G (p.Phe859Val) c.1564T>G (p.Phe522Val) | |
| 12 | g.101761688A>G | CA386296351 | GNPTAB | c.2791T>C (p.Phe931Leu) c.2710T>C (p.Phe904Leu) c.2575T>C (p.Phe859Leu) c.1564T>C (p.Phe522Leu) | dbSNP |
| 12 | g.101761688A>T | CA386296352 | GNPTAB | c.2791T>A (p.Phe931Ile) c.2710T>A (p.Phe904Ile) c.2575T>A (p.Phe859Ile) c.1564T>A (p.Phe522Ile) | |
| 12 | g.101761689T>A | CA481576814 | GNPTAB | c.2790A>T (p.Thr930=) c.2709A>T (p.Thr903=) c.2574A>T (p.Thr858=) c.1563A>T (p.Thr521=) | |
| 12 | g.101761689T>C | CA481576816 | GNPTAB | c.2790A>G (p.Thr930=) c.2709A>G (p.Thr903=) c.2574A>G (p.Thr858=) c.1563A>G (p.Thr521=) | ClinVar dbSNP |
| 12 | g.101761689T>G | CA481576815 | GNPTAB | c.2790A>C (p.Thr930=) c.2709A>C (p.Thr903=) c.2574A>C (p.Thr858=) c.1563A>C (p.Thr521=) | |
| 12 | g.101761690G>A | CA386296353 | GNPTAB | c.2789C>T (p.Thr930Ile) c.2708C>T (p.Thr903Ile) c.2573C>T (p.Thr858Ile) c.1562C>T (p.Thr521Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101761690G>C | CA386296354 | GNPTAB | c.2789C>G (p.Thr930Arg) c.2708C>G (p.Thr903Arg) c.2573C>G (p.Thr858Arg) c.1562C>G (p.Thr521Arg) | |
| 12 | g.101761690G= | CA2058953150 | GNPTAB | c.2789C= (p.Thr930=) c.2708C= (p.Thr903=) c.2573C= (p.Thr858=) c.1562C= (p.Thr521=) | |
| 12 | g.101761690G>T | CA386296355 | GNPTAB | c.2789C>A (p.Thr930Lys) c.2708C>A (p.Thr903Lys) c.2573C>A (p.Thr858Lys) c.1562C>A (p.Thr521Lys) | |
| 12 | g.101761691T>A | CA386296358 | GNPTAB | c.2788A>T (p.Thr930Ser) c.2707A>T (p.Thr903Ser) c.2572A>T (p.Thr858Ser) c.1561A>T (p.Thr521Ser) | |
| 12 | g.101761691T>C | CA386296357 | GNPTAB | c.2788A>G (p.Thr930Ala) c.2707A>G (p.Thr903Ala) c.2572A>G (p.Thr858Ala) c.1561A>G (p.Thr521Ala) | dbSNP |
| 12 | g.101761691T>G | CA386296356 | GNPTAB | c.2788A>C (p.Thr930Pro) c.2707A>C (p.Thr903Pro) c.2572A>C (p.Thr858Pro) c.1561A>C (p.Thr521Pro) | |
| 12 | g.101761691T= | CA2058953153 | GNPTAB | c.2788A= (p.Thr930=) c.2707A= (p.Thr903=) c.2572A= (p.Thr858=) c.1561A= (p.Thr521=) | |
| 12 | g.101761692A= | CA2058953155 | GNPTAB | c.2787T= (p.Asp929=) c.2706T= (p.Asp902=) c.2571T= (p.Asp857=) c.1560T= (p.Asp520=) | |
| 12 | g.101761692A>C | CA386296359 | GNPTAB | c.2787T>G (p.Asp929Glu) c.2706T>G (p.Asp902Glu) c.2571T>G (p.Asp857Glu) c.1560T>G (p.Asp520Glu) | |
| 12 | g.101761692A>G | CA481576817 | GNPTAB | c.2787T>C (p.Asp929=) c.2706T>C (p.Asp902=) c.2571T>C (p.Asp857=) c.1560T>C (p.Asp520=) | |
| 12 | g.101761692A>T | CA6746344 | GNPTAB | c.2787T>A (p.Asp929Glu) c.2706T>A (p.Asp902Glu) c.2571T>A (p.Asp857Glu) c.1560T>A (p.Asp520Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101761693T>A | CA386296360 | GNPTAB | c.2786A>T (p.Asp929Val) c.2705A>T (p.Asp902Val) c.2570A>T (p.Asp857Val) c.1559A>T (p.Asp520Val) | |
| 12 | g.101761693T>C | CA386296361 | GNPTAB | c.2786A>G (p.Asp929Gly) c.2705A>G (p.Asp902Gly) c.2570A>G (p.Asp857Gly) c.1559A>G (p.Asp520Gly) | |
| 12 | g.101761693T>G | CA386296362 | GNPTAB | c.2786A>C (p.Asp929Ala) c.2705A>C (p.Asp902Ala) c.2570A>C (p.Asp857Ala) c.1559A>C (p.Asp520Ala) | |
| 12 | g.101761694C>A | CA386296363 | GNPTAB | c.2785G>T (p.Asp929Tyr) c.2704G>T (p.Asp902Tyr) c.2569G>T (p.Asp857Tyr) c.1558G>T (p.Asp520Tyr) | gnomAD v4 |
| 12 | g.101761694C>G | CA386296364 | GNPTAB | c.2785G>C (p.Asp929His) c.2704G>C (p.Asp902His) c.2569G>C (p.Asp857His) c.1558G>C (p.Asp520His) | |
| 12 | g.101761694C>T | CA386296365 | GNPTAB | c.2785G>A (p.Asp929Asn) c.2704G>A (p.Asp902Asn) c.2569G>A (p.Asp857Asn) c.1558G>A (p.Asp520Asn) | |
| 12 | g.101761695T>A | CA386296366 | GNPTAB | c.2784A>T (p.Lys928Asn) c.2703A>T (p.Lys901Asn) c.2568A>T (p.Lys856Asn) c.1557A>T (p.Lys519Asn) | |
| 12 | g.101761695T>C | CA481576818 | GNPTAB | c.2784A>G (p.Lys928=) c.2703A>G (p.Lys901=) c.2568A>G (p.Lys856=) c.1557A>G (p.Lys519=) | |
| 12 | g.101761695T>G | CA386296367 | GNPTAB | c.2784A>C (p.Lys928Asn) c.2703A>C (p.Lys901Asn) c.2568A>C (p.Lys856Asn) c.1557A>C (p.Lys519Asn) | |
| 12 | g.101761696T>A | CA386296368 | GNPTAB | c.2783A>T (p.Lys928Ile) c.2702A>T (p.Lys901Ile) c.2567A>T (p.Lys856Ile) c.1556A>T (p.Lys519Ile) | |
| 12 | g.101761696T>C | CA356545 | GNPTAB | c.2783A>G (p.Lys928Arg) c.2702A>G (p.Lys901Arg) c.2567A>G (p.Lys856Arg) c.1556A>G (p.Lys519Arg) | dbSNP |
| 12 | g.101761696T>G | CA386296369 | GNPTAB | c.2783A>C (p.Lys928Thr) c.2702A>C (p.Lys901Thr) c.2567A>C (p.Lys856Thr) c.1556A>C (p.Lys519Thr) | |
| 12 | g.101761696T= | CA2058953162 | GNPTAB | c.2783A= (p.Lys928=) c.2702A= (p.Lys901=) c.2567A= (p.Lys856=) c.1556A= (p.Lys519=) | |
| 12 | g.101761697T>A | CA386296371 | GNPTAB | c.2782A>T (p.Lys928Ter) c.2701A>T (p.Lys901Ter) c.2566A>T (p.Lys856Ter) c.1555A>T (p.Lys519Ter) | |
| 12 | g.101761697T>C | CA386296372 | GNPTAB | c.2782A>G (p.Lys928Glu) c.2701A>G (p.Lys901Glu) c.2566A>G (p.Lys856Glu) c.1555A>G (p.Lys519Glu) | |
| 12 | g.101761697T>G | CA386296370 | GNPTAB | c.2782A>C (p.Lys928Gln) c.2701A>C (p.Lys901Gln) c.2566A>C (p.Lys856Gln) c.1555A>C (p.Lys519Gln) | |
| 12 | g.101761698T>A | CA481576819 | GNPTAB | c.2781A>T (p.Leu927=) c.2700A>T (p.Leu900=) c.2565A>T (p.Leu855=) c.1554A>T (p.Leu518=) | |
| 12 | g.101761698T>C | CA481576820 | GNPTAB | c.2781A>G (p.Leu927=) c.2700A>G (p.Leu900=) c.2565A>G (p.Leu855=) c.1554A>G (p.Leu518=) | ClinVar dbSNP |
| 12 | g.101761698T>G | CA481576821 | GNPTAB | c.2781A>C (p.Leu927=) c.2700A>C (p.Leu900=) c.2565A>C (p.Leu855=) c.1554A>C (p.Leu518=) | |
| 12 | g.101761698T= | CA2058953164 | GNPTAB | c.2781A= (p.Leu927=) c.2700A= (p.Leu900=) c.2565A= (p.Leu855=) c.1554A= (p.Leu518=) | |
| 12 | g.101761699A>C | CA386296373 | GNPTAB | c.2780T>G (p.Leu927Arg) c.2699T>G (p.Leu900Arg) c.2564T>G (p.Leu855Arg) c.1553T>G (p.Leu518Arg) | |
| 12 | g.101761699A>G | CA386296374 | GNPTAB | c.2780T>C (p.Leu927Pro) c.2699T>C (p.Leu900Pro) c.2564T>C (p.Leu855Pro) c.1553T>C (p.Leu518Pro) | |
| 12 | g.101761699A>T | CA386296375 | GNPTAB | c.2780T>A (p.Leu927Gln) c.2699T>A (p.Leu900Gln) c.2564T>A (p.Leu855Gln) c.1553T>A (p.Leu518Gln) | |
| 12 | g.101761700G>A | CA481576822 | GNPTAB | c.2779C>T (p.Leu927=) c.2698C>T (p.Leu900=) c.2563C>T (p.Leu855=) c.1552C>T (p.Leu518=) | |
| 12 | g.101761700G>C | CA386296376 | GNPTAB | c.2779C>G (p.Leu927Val) c.2698C>G (p.Leu900Val) c.2563C>G (p.Leu855Val) c.1552C>G (p.Leu518Val) | |
| 12 | g.101761700G>T | CA386296377 | GNPTAB | c.2779C>A (p.Leu927Ile) c.2698C>A (p.Leu900Ile) c.2563C>A (p.Leu855Ile) c.1552C>A (p.Leu518Ile) | |
| 12 | g.101761701T>A | CA386296378 | GNPTAB | c.2778A>T (p.Gln926His) c.2697A>T (p.Gln899His) c.2562A>T (p.Gln854His) c.1551A>T (p.Gln517His) | |
| 12 | g.101761701T>C | CA481576823 | GNPTAB | c.2778A>G (p.Gln926=) c.2697A>G (p.Gln899=) c.2562A>G (p.Gln854=) c.1551A>G (p.Gln517=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101761701T>G | CA386296379 | GNPTAB | c.2778A>C (p.Gln926His) c.2697A>C (p.Gln899His) c.2562A>C (p.Gln854His) c.1551A>C (p.Gln517His) | |
| 12 | g.101761701T= | CA2058953167 | GNPTAB | c.2778A= (p.Gln926=) c.2697A= (p.Gln899=) c.2562A= (p.Gln854=) c.1551A= (p.Gln517=) | |
| 12 | g.101761701_101761708del | CA2620428759 | GNPTAB | c.2771_2778del (p.Gly924AlafsTer14) c.2690_2697del (p.Gly897AlafsTer14) c.2555_2562del (p.Gly852AlafsTer14) c.1544_1551del (p.Gly515AlafsTer14) | gnomAD v4 |
| 12 | g.101761702T>A | CA386296380 | GNPTAB | c.2777A>T (p.Gln926Leu) c.2696A>T (p.Gln899Leu) c.2561A>T (p.Gln854Leu) c.1550A>T (p.Gln517Leu) | dbSNP |
| 12 | g.101761702T>C | CA386296381 | GNPTAB | c.2777A>G (p.Gln926Arg) c.2696A>G (p.Gln899Arg) c.2561A>G (p.Gln854Arg) c.1550A>G (p.Gln517Arg) | |
| 12 | g.101761702T>G | CA343382 | GNPTAB | c.2777A>C (p.Gln926Pro) c.2696A>C (p.Gln899Pro) c.2561A>C (p.Gln854Pro) c.1550A>C (p.Gln517Pro) | ClinVar dbSNP |
| 12 | g.101761702T= | CA2058953172 | GNPTAB | c.2777A= (p.Gln926=) c.2696A= (p.Gln899=) c.2561A= (p.Gln854=) c.1550A= (p.Gln517=) |