Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
12 | g.101761703G>A | CA386296382 | GNPTAB | c.2776C>T (p.Gln926Ter) c.2695C>T (p.Gln899Ter) c.2560C>T (p.Gln854Ter) c.1549C>T (p.Gln517Ter) | |
12 | g.101761703G>C | CA386296383 | GNPTAB | c.2776C>G (p.Gln926Glu) c.2695C>G (p.Gln899Glu) c.2560C>G (p.Gln854Glu) c.1549C>G (p.Gln517Glu) | gnomAD v4 |
12 | g.101761703G>T | CA386296384 | GNPTAB | c.2776C>A (p.Gln926Lys) c.2695C>A (p.Gln899Lys) c.2560C>A (p.Gln854Lys) c.1549C>A (p.Gln517Lys) | |
12 | g.101761704C>A | CA386296386 | GNPTAB | c.2775G>T (p.Arg925Ser) c.2694G>T (p.Arg898Ser) c.2559G>T (p.Arg853Ser) c.1548G>T (p.Arg516Ser) | |
12 | g.101761704C>G | CA386296385 | GNPTAB | c.2775G>C (p.Arg925Ser) c.2694G>C (p.Arg898Ser) c.2559G>C (p.Arg853Ser) c.1548G>C (p.Arg516Ser) | |
12 | g.101761704C>T | CA481576824 | GNPTAB | c.2775G>A (p.Arg925=) c.2694G>A (p.Arg898=) c.2559G>A (p.Arg853=) c.1548G>A (p.Arg516=) | gnomAD v4 COSMIC |
12 | g.101761705C>A | CA386296387 | GNPTAB | c.2774G>T (p.Arg925Met) c.2693G>T (p.Arg898Met) c.2558G>T (p.Arg853Met) c.1547G>T (p.Arg516Met) | |
12 | g.101761705C>G | CA386296388 | GNPTAB | c.2774G>C (p.Arg925Thr) c.2693G>C (p.Arg898Thr) c.2558G>C (p.Arg853Thr) c.1547G>C (p.Arg516Thr) | |
12 | g.101761705C>T | CA386296389 | GNPTAB | c.2774G>A (p.Arg925Lys) c.2693G>A (p.Arg898Lys) c.2558G>A (p.Arg853Lys) c.1547G>A (p.Arg516Lys) | |
12 | g.101761706T>A | CA386296390 | GNPTAB | c.2773A>T (p.Arg925Trp) c.2692A>T (p.Arg898Trp) c.2557A>T (p.Arg853Trp) c.1546A>T (p.Arg516Trp) | |
12 | g.101761706T>C | CA386296391 | GNPTAB | c.2773A>G (p.Arg925Gly) c.2692A>G (p.Arg898Gly) c.2557A>G (p.Arg853Gly) c.1546A>G (p.Arg516Gly) | |
12 | g.101761706T>G | CA481576825 | GNPTAB | c.2773A>C (p.Arg925=) c.2692A>C (p.Arg898=) c.2557A>C (p.Arg853=) c.1546A>C (p.Arg516=) | |
12 | g.101761707C>A | CA481576826 | GNPTAB | c.2772G>T (p.Gly924=) c.2691G>T (p.Gly897=) c.2556G>T (p.Gly852=) c.1545G>T (p.Gly515=) | |
12 | g.101761707C>G | CA481576827 | GNPTAB | c.2772G>C (p.Gly924=) c.2691G>C (p.Gly897=) c.2556G>C (p.Gly852=) c.1545G>C (p.Gly515=) | |
12 | g.101761707C>T | CA481576828 | GNPTAB | c.2772G>A (p.Gly924=) c.2691G>A (p.Gly897=) c.2556G>A (p.Gly852=) c.1545G>A (p.Gly515=) | |
12 | g.101761708C>A | CA386296394 | GNPTAB | c.2771G>T (p.Gly924Val) c.2690G>T (p.Gly897Val) c.2555G>T (p.Gly852Val) c.1544G>T (p.Gly515Val) | |
12 | g.101761708C>G | CA386296393 | GNPTAB | c.2771G>C (p.Gly924Ala) c.2690G>C (p.Gly897Ala) c.2555G>C (p.Gly852Ala) c.1544G>C (p.Gly515Ala) | |
12 | g.101761708C>T | CA386296392 | GNPTAB | c.2771G>A (p.Gly924Glu) c.2690G>A (p.Gly897Glu) c.2555G>A (p.Gly852Glu) c.1544G>A (p.Gly515Glu) | |
12 | g.101761709C>A | CA386296395 | GNPTAB | c.2770G>T (p.Gly924Trp) c.2689G>T (p.Gly897Trp) c.2554G>T (p.Gly852Trp) c.1543G>T (p.Gly515Trp) | |
12 | g.101761709C= | CA2058953178 | GNPTAB | c.2770G= (p.Gly924=) c.2689G= (p.Gly897=) c.2554G= (p.Gly852=) c.1543G= (p.Gly515=) | |
12 | g.101761709C>G | CA386296396 | GNPTAB | c.2770G>C (p.Gly924Arg) c.2689G>C (p.Gly897Arg) c.2554G>C (p.Gly852Arg) c.1543G>C (p.Gly515Arg) | |
12 | g.101761709C>T | CA6746345 | GNPTAB | c.2770G>A (p.Gly924Arg) c.2689G>A (p.Gly897Arg) c.2554G>A (p.Gly852Arg) c.1543G>A (p.Gly515Arg) | dbSNP ExAC gnomAD v2 |
12 | g.101761710A>C | CA481576829 | GNPTAB | c.2769T>G (p.Thr923=) c.2688T>G (p.Thr896=) c.2553T>G (p.Thr851=) c.1542T>G (p.Thr514=) | |
12 | g.101761710A>G | CA481576831 | GNPTAB | c.2769T>C (p.Thr923=) c.2688T>C (p.Thr896=) c.2553T>C (p.Thr851=) c.1542T>C (p.Thr514=) | |
12 | g.101761710A>T | CA481576830 | GNPTAB | c.2769T>A (p.Thr923=) c.2688T>A (p.Thr896=) c.2553T>A (p.Thr851=) c.1542T>A (p.Thr514=) | |
12 | g.101761710_101761711insAAAATA | CA2620428760 | GNPTAB | c.2769_2770insATTTTT (p.Thr923_Gly924insIlePhe) c.2688_2689insATTTTT (p.Thr896_Gly897insIlePhe) c.2553_2554insATTTTT (p.Thr851_Gly852insIlePhe) c.1542_1543insATTTTT (p.Thr514_Gly515insIlePhe) | gnomAD v4 |
12 | g.101761711G>A | CA386296397 | GNPTAB | c.2768C>T (p.Thr923Ile) c.2687C>T (p.Thr896Ile) c.2552C>T (p.Thr851Ile) c.1541C>T (p.Thr514Ile) | |
12 | g.101761711G>C | CA386296398 | GNPTAB | c.2768C>G (p.Thr923Ser) c.2687C>G (p.Thr896Ser) c.2552C>G (p.Thr851Ser) c.1541C>G (p.Thr514Ser) | |
12 | g.101761711G>T | CA386296399 | GNPTAB | c.2768C>A (p.Thr923Asn) c.2687C>A (p.Thr896Asn) c.2552C>A (p.Thr851Asn) c.1541C>A (p.Thr514Asn) | |
12 | g.101761712T>A | CA386296400 | GNPTAB | c.2767A>T (p.Thr923Ser) c.2686A>T (p.Thr896Ser) c.2551A>T (p.Thr851Ser) c.1540A>T (p.Thr514Ser) | |
12 | g.101761712T>C | CA386296402 | GNPTAB | c.2767A>G (p.Thr923Ala) c.2686A>G (p.Thr896Ala) c.2551A>G (p.Thr851Ala) c.1540A>G (p.Thr514Ala) | |
12 | g.101761712T>G | CA386296401 | GNPTAB | c.2767A>C (p.Thr923Pro) c.2686A>C (p.Thr896Pro) c.2551A>C (p.Thr851Pro) c.1540A>C (p.Thr514Pro) | |
12 | g.101761713A>C | CA386296403 | GNPTAB | c.2766T>G (p.Asn922Lys) c.2685T>G (p.Asn895Lys) c.2550T>G (p.Asn850Lys) c.1539T>G (p.Asn513Lys) | |
12 | g.101761713A>G | CA481576832 | GNPTAB | c.2766T>C (p.Asn922=) c.2685T>C (p.Asn895=) c.2550T>C (p.Asn850=) c.1539T>C (p.Asn513=) | |
12 | g.101761713A>T | CA386296404 | GNPTAB | c.2766T>A (p.Asn922Lys) c.2685T>A (p.Asn895Lys) c.2550T>A (p.Asn850Lys) c.1539T>A (p.Asn513Lys) | |
12 | g.101761714T>A | CA386296405 | GNPTAB | c.2765A>T (p.Asn922Ile) c.2684A>T (p.Asn895Ile) c.2549A>T (p.Asn850Ile) c.1538A>T (p.Asn513Ile) | |
12 | g.101761714T>C | CA386296406 | GNPTAB | c.2765A>G (p.Asn922Ser) c.2684A>G (p.Asn895Ser) c.2549A>G (p.Asn850Ser) c.1538A>G (p.Asn513Ser) | |
12 | g.101761714T>G | CA386296407 | GNPTAB | c.2765A>C (p.Asn922Thr) c.2684A>C (p.Asn895Thr) c.2549A>C (p.Asn850Thr) c.1538A>C (p.Asn513Thr) | |
12 | g.101761715T>A | CA386296410 | GNPTAB | c.2764A>T (p.Asn922Tyr) c.2683A>T (p.Asn895Tyr) c.2548A>T (p.Asn850Tyr) c.1537A>T (p.Asn513Tyr) | |
12 | g.101761715T>C | CA386296409 | GNPTAB | c.2764A>G (p.Asn922Asp) c.2683A>G (p.Asn895Asp) c.2548A>G (p.Asn850Asp) c.1537A>G (p.Asn513Asp) | |
12 | g.101761715T>G | CA386296408 | GNPTAB | c.2764A>C (p.Asn922His) c.2683A>C (p.Asn895His) c.2548A>C (p.Asn850His) c.1537A>C (p.Asn513His) | |
12 | g.101761716T>A | CA386296411 | GNPTAB | c.2763A>T (p.Lys921Asn) c.2682A>T (p.Lys894Asn) c.2547A>T (p.Lys849Asn) c.1536A>T (p.Lys512Asn) | |
12 | g.101761716T>C | CA6746346 | GNPTAB | c.2763A>G (p.Lys921=) c.2682A>G (p.Lys894=) c.2547A>G (p.Lys849=) c.1536A>G (p.Lys512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101761716T>G | CA386296412 | GNPTAB | c.2763A>C (p.Lys921Asn) c.2682A>C (p.Lys894Asn) c.2547A>C (p.Lys849Asn) c.1536A>C (p.Lys512Asn) | |
12 | g.101761716T= | CA2058953184 | GNPTAB | c.2763A= (p.Lys921=) c.2682A= (p.Lys894=) c.2547A= (p.Lys849=) c.1536A= (p.Lys512=) | |
12 | g.101761717T>A | CA386296413 | GNPTAB | c.2762A>T (p.Lys921Ile) c.2681A>T (p.Lys894Ile) c.2546A>T (p.Lys849Ile) c.1535A>T (p.Lys512Ile) | gnomAD v4 |
12 | g.101761717T>C | CA6746347 | GNPTAB | c.2762A>G (p.Lys921Arg) c.2681A>G (p.Lys894Arg) c.2546A>G (p.Lys849Arg) c.1535A>G (p.Lys512Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101761717T>G | CA386296414 | GNPTAB | c.2762A>C (p.Lys921Thr) c.2681A>C (p.Lys894Thr) c.2546A>C (p.Lys849Thr) c.1535A>C (p.Lys512Thr) | |
12 | g.101761717T= | CA2058953187 | GNPTAB | c.2762A= (p.Lys921=) c.2681A= (p.Lys894=) c.2546A= (p.Lys849=) c.1535A= (p.Lys512=) | |
12 | g.101761718T>A | CA386296415 | GNPTAB | c.2761A>T (p.Lys921Ter) c.2680A>T (p.Lys894Ter) c.2545A>T (p.Lys849Ter) c.1534A>T (p.Lys512Ter) | ClinVar dbSNP |
12 | g.101761718T>C | CA386296417 | GNPTAB | c.2761A>G (p.Lys921Glu) c.2680A>G (p.Lys894Glu) c.2545A>G (p.Lys849Glu) c.1534A>G (p.Lys512Glu) | |
12 | g.101761718T>G | CA386296416 | GNPTAB | c.2761A>C (p.Lys921Gln) c.2680A>C (p.Lys894Gln) c.2545A>C (p.Lys849Gln) c.1534A>C (p.Lys512Gln) | ClinVar |
12 | g.101761718T= | CA2058953190 | GNPTAB | c.2761A= (p.Lys921=) c.2680A= (p.Lys894=) c.2545A= (p.Lys849=) c.1534A= (p.Lys512=) | |
12 | g.101761719G>A | CA481576833 | GNPTAB | c.2760C>T (p.Ser920=) c.2679C>T (p.Ser893=) c.2544C>T (p.Ser848=) c.1533C>T (p.Ser511=) | gnomAD v4 |
12 | g.101761719G>C | CA386296418 | GNPTAB | c.2760C>G (p.Ser920Arg) c.2679C>G (p.Ser893Arg) c.2544C>G (p.Ser848Arg) c.1533C>G (p.Ser511Arg) | |
12 | g.101761719G= | CA2058953195 | GNPTAB | c.2760C= (p.Ser920=) c.2679C= (p.Ser893=) c.2544C= (p.Ser848=) c.1533C= (p.Ser511=) | |
12 | g.101761719G>T | CA386296419 | GNPTAB | c.2760C>A (p.Ser920Arg) c.2679C>A (p.Ser893Arg) c.2544C>A (p.Ser848Arg) c.1533C>A (p.Ser511Arg) | dbSNP |
12 | g.101761720C>A | CA386296420 | GNPTAB | c.2759G>T (p.Ser920Ile) c.2678G>T (p.Ser893Ile) c.2543G>T (p.Ser848Ile) c.1532G>T (p.Ser511Ile) | |
12 | g.101761720C= | CA2058953200 | GNPTAB | c.2759G= (p.Ser920=) c.2678G= (p.Ser893=) c.2543G= (p.Ser848=) c.1532G= (p.Ser511=) | |
12 | g.101761720C>G | CA386296421 | GNPTAB | c.2759G>C (p.Ser920Thr) c.2678G>C (p.Ser893Thr) c.2543G>C (p.Ser848Thr) c.1532G>C (p.Ser511Thr) | |
12 | g.101761720C>T | CA6746348 | GNPTAB | c.2759G>A (p.Ser920Asn) c.2678G>A (p.Ser893Asn) c.2543G>A (p.Ser848Asn) c.1532G>A (p.Ser511Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101761720_101761722delinsCTA | CA2058953202 | GNPTAB | c.2757_2759delinsTAG (p.Asp919=) c.2676_2678delinsTAG (p.Asp892=) c.2541_2543delinsTAG (p.Asp847=) c.1530_1532delinsTAG (p.Asp510=) | |
12 | g.101761721T>A | CA386296422 | GNPTAB | c.2758A>T (p.Ser920Cys) c.2677A>T (p.Ser893Cys) c.2542A>T (p.Ser848Cys) c.1531A>T (p.Ser511Cys) | |
12 | g.101761721T>C | CA386296423 | GNPTAB | c.2758A>G (p.Ser920Gly) c.2677A>G (p.Ser893Gly) c.2542A>G (p.Ser848Gly) c.1531A>G (p.Ser511Gly) | |
12 | g.101761721T>G | CA242454387 | GNPTAB | c.2758A>C (p.Ser920Arg) c.2677A>C (p.Ser893Arg) c.2542A>C (p.Ser848Arg) c.1531A>C (p.Ser511Arg) | dbSNP |
12 | g.101761721T= | CA2058953205 | GNPTAB | c.2758A= (p.Ser920=) c.2677A= (p.Ser893=) c.2542A= (p.Ser848=) c.1531A= (p.Ser511=) | |
12 | g.101761722_101761723del | CA6746349 | GNPTAB | c.2757_2758del (p.Asp919GlufsTer21) c.2676_2677del (p.Asp892GlufsTer21) c.2541_2542del (p.Asp847GlufsTer21) c.1530_1531del (p.Asp510GlufsTer21) | ClinVar dbSNP ExAC gnomAD v4 |
12 | g.101761722A>C | CA386296424 | GNPTAB | c.2757T>G (p.Asp919Glu) c.2676T>G (p.Asp892Glu) c.2541T>G (p.Asp847Glu) c.1530T>G (p.Asp510Glu) | |
12 | g.101761722A>G | CA481576834 | GNPTAB | c.2757T>C (p.Asp919=) c.2676T>C (p.Asp892=) c.2541T>C (p.Asp847=) c.1530T>C (p.Asp510=) | |
12 | g.101761722A>T | CA386296425 | GNPTAB | c.2757T>A (p.Asp919Glu) c.2676T>A (p.Asp892Glu) c.2541T>A (p.Asp847Glu) c.1530T>A (p.Asp510Glu) | |
12 | g.101761723T>A | CA386296427 | GNPTAB | c.2756A>T (p.Asp919Val) c.2675A>T (p.Asp892Val) c.2540A>T (p.Asp847Val) c.1529A>T (p.Asp510Val) | |
12 | g.101761723T>C | CA386296428 | GNPTAB | c.2756A>G (p.Asp919Gly) c.2675A>G (p.Asp892Gly) c.2540A>G (p.Asp847Gly) c.1529A>G (p.Asp510Gly) | |
12 | g.101761723T>G | CA386296426 | GNPTAB | c.2756A>C (p.Asp919Ala) c.2675A>C (p.Asp892Ala) c.2540A>C (p.Asp847Ala) c.1529A>C (p.Asp510Ala) | |
12 | g.101761724C>A | CA386296430 | GNPTAB | c.2755G>T (p.Asp919Tyr) c.2674G>T (p.Asp892Tyr) c.2539G>T (p.Asp847Tyr) c.1528G>T (p.Asp510Tyr) | |
12 | g.101761724C>G | CA386296429 | GNPTAB | c.2755G>C (p.Asp919His) c.2674G>C (p.Asp892His) c.2539G>C (p.Asp847His) c.1528G>C (p.Asp510His) | |
12 | g.101761724C>T | CA386296431 | GNPTAB | c.2755G>A (p.Asp919Asn) c.2674G>A (p.Asp892Asn) c.2539G>A (p.Asp847Asn) c.1528G>A (p.Asp510Asn) | |
12 | g.101761725A>C | CA481576835 | GNPTAB | c.2754T>G (p.Thr918=) c.2673T>G (p.Thr891=) c.2538T>G (p.Thr846=) c.1527T>G (p.Thr509=) | |
12 | g.101761725A>G | CA481576836 | GNPTAB | c.2754T>C (p.Thr918=) c.2673T>C (p.Thr891=) c.2538T>C (p.Thr846=) c.1527T>C (p.Thr509=) | |
12 | g.101761725A>T | CA481576837 | GNPTAB | c.2754T>A (p.Thr918=) c.2673T>A (p.Thr891=) c.2538T>A (p.Thr846=) c.1527T>A (p.Thr509=) | |
12 | g.101761726G>A | CA386296432 | GNPTAB | c.2753C>T (p.Thr918Ile) c.2672C>T (p.Thr891Ile) c.2537C>T (p.Thr846Ile) c.1526C>T (p.Thr509Ile) | |
12 | g.101761726G>C | CA386296433 | GNPTAB | c.2753C>G (p.Thr918Ser) c.2672C>G (p.Thr891Ser) c.2537C>G (p.Thr846Ser) c.1526C>G (p.Thr509Ser) | |
12 | g.101761726G>T | CA386296434 | GNPTAB | c.2753C>A (p.Thr918Asn) c.2672C>A (p.Thr891Asn) c.2537C>A (p.Thr846Asn) c.1526C>A (p.Thr509Asn) | |
12 | g.101761727T>A | CA386296435 | GNPTAB | c.2752A>T (p.Thr918Ser) c.2671A>T (p.Thr891Ser) c.2536A>T (p.Thr846Ser) c.1525A>T (p.Thr509Ser) | gnomAD v4 |
12 | g.101761727T>C | CA386296436 | GNPTAB | c.2752A>G (p.Thr918Ala) c.2671A>G (p.Thr891Ala) c.2536A>G (p.Thr846Ala) c.1525A>G (p.Thr509Ala) | |
12 | g.101761727T>G | CA386296437 | GNPTAB | c.2752A>C (p.Thr918Pro) c.2671A>C (p.Thr891Pro) c.2536A>C (p.Thr846Pro) c.1525A>C (p.Thr509Pro) | |
12 | g.101761729_101761735del | CA912973312 | GNPTAB | c.2746_2752del (p.Tyr916LeufsTer10) c.2665_2671del (p.Tyr889LeufsTer10) c.2530_2536del (p.Tyr844LeufsTer10) c.1519_1525del (p.Tyr507LeufsTer10) | |
12 | g.101761728G>A | CA481576838 | GNPTAB | c.2751C>T (p.Phe917=) c.2670C>T (p.Phe890=) c.2535C>T (p.Phe845=) c.1524C>T (p.Phe508=) | gnomAD v4 |
12 | g.101761728G>C | CA386296438 | GNPTAB | c.2751C>G (p.Phe917Leu) c.2670C>G (p.Phe890Leu) c.2535C>G (p.Phe845Leu) c.1524C>G (p.Phe508Leu) | |
12 | g.101761728G>T | CA386296439 | GNPTAB | c.2751C>A (p.Phe917Leu) c.2670C>A (p.Phe890Leu) c.2535C>A (p.Phe845Leu) c.1524C>A (p.Phe508Leu) | |
12 | g.101761728_101761734delinsGAAGTAT | CA2058953212 | GNPTAB | c.2745_2751delinsATACTTC (p.Ala915=) c.2664_2670delinsATACTTC (p.Ala888=) c.2529_2535delinsATACTTC (p.Ala843=) c.1518_1524delinsATACTTC (p.Ala506=) | |
12 | g.101761729A>C | CA386296440 | GNPTAB | c.2750T>G (p.Phe917Cys) c.2669T>G (p.Phe890Cys) c.2534T>G (p.Phe845Cys) c.1523T>G (p.Phe508Cys) | |
12 | g.101761729A>G | CA386296441 | GNPTAB | c.2750T>C (p.Phe917Ser) c.2669T>C (p.Phe890Ser) c.2534T>C (p.Phe845Ser) c.1523T>C (p.Phe508Ser) | |
12 | g.101761729A>T | CA386296442 | GNPTAB | c.2750T>A (p.Phe917Tyr) c.2669T>A (p.Phe890Tyr) c.2534T>A (p.Phe845Tyr) c.1523T>A (p.Phe508Tyr) | |
12 | g.101761729_101761734del | CA607597811 | GNPTAB | c.2745_2750del (p.Tyr916_Phe917del) c.2664_2669del (p.Tyr889_Phe890del) c.2529_2534del (p.Tyr844_Phe845del) c.1518_1523del (p.Tyr507_Phe508del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101761730A>C | CA386296445 | GNPTAB | c.2749T>G (p.Phe917Val) c.2668T>G (p.Phe890Val) c.2533T>G (p.Phe845Val) c.1522T>G (p.Phe508Val) | |
12 | g.101761730A>G | CA386296444 | GNPTAB | c.2749T>C (p.Phe917Leu) c.2668T>C (p.Phe890Leu) c.2533T>C (p.Phe845Leu) c.1522T>C (p.Phe508Leu) | |
12 | g.101761730A>T | CA386296443 | GNPTAB | c.2749T>A (p.Phe917Ile) c.2668T>A (p.Phe890Ile) c.2533T>A (p.Phe845Ile) c.1522T>A (p.Phe508Ile) | |
12 | g.101761731G>A | CA6746350 | GNPTAB | c.2748C>T (p.Tyr916=) c.2667C>T (p.Tyr889=) c.2532C>T (p.Tyr844=) c.1521C>T (p.Tyr507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101761731G>C | CA386296446 | GNPTAB | c.2748C>G (p.Tyr916Ter) c.2667C>G (p.Tyr889Ter) c.2532C>G (p.Tyr844Ter) c.1521C>G (p.Tyr507Ter) | ClinVar |
12 | g.101761731G= | CA2058953221 | GNPTAB | c.2748C= (p.Tyr916=) c.2667C= (p.Tyr889=) c.2532C= (p.Tyr844=) c.1521C= (p.Tyr507=) | |
12 | g.101761731G>T | CA386296447 | GNPTAB | c.2748C>A (p.Tyr916Ter) c.2667C>A (p.Tyr889Ter) c.2532C>A (p.Tyr844Ter) c.1521C>A (p.Tyr507Ter) | gnomAD v4 |
12 | g.101761732T>A | CA386296448 | GNPTAB | c.2747A>T (p.Tyr916Phe) c.2666A>T (p.Tyr889Phe) c.2531A>T (p.Tyr844Phe) c.1520A>T (p.Tyr507Phe) | |
12 | g.101761732T>C | CA386296449 | GNPTAB | c.2747A>G (p.Tyr916Cys) c.2666A>G (p.Tyr889Cys) c.2531A>G (p.Tyr844Cys) c.1520A>G (p.Tyr507Cys) | COSMIC |
12 | g.101761732T>G | CA386296450 | GNPTAB | c.2747A>C (p.Tyr916Ser) c.2666A>C (p.Tyr889Ser) c.2531A>C (p.Tyr844Ser) c.1520A>C (p.Tyr507Ser) | |
12 | g.101761733A>C | CA386296451 | GNPTAB | c.2746T>G (p.Tyr916Asp) c.2665T>G (p.Tyr889Asp) c.2530T>G (p.Tyr844Asp) c.1519T>G (p.Tyr507Asp) | |
12 | g.101761733A>G | CA386296452 | GNPTAB | c.2746T>C (p.Tyr916His) c.2665T>C (p.Tyr889His) c.2530T>C (p.Tyr844His) c.1519T>C (p.Tyr507His) | |
12 | g.101761733A>T | CA386296453 | GNPTAB | c.2746T>A (p.Tyr916Asn) c.2665T>A (p.Tyr889Asn) c.2530T>A (p.Tyr844Asn) c.1519T>A (p.Tyr507Asn) | |
12 | g.101761734T>A | CA481576839 | GNPTAB | c.2745A>T (p.Ala915=) c.2664A>T (p.Ala888=) c.2529A>T (p.Ala843=) c.1518A>T (p.Ala506=) | |
12 | g.101761734T>C | CA481576840 | GNPTAB | c.2745A>G (p.Ala915=) c.2664A>G (p.Ala888=) c.2529A>G (p.Ala843=) c.1518A>G (p.Ala506=) | gnomAD v4 |
12 | g.101761734T>G | CA481576841 | GNPTAB | c.2745A>C (p.Ala915=) c.2664A>C (p.Ala888=) c.2529A>C (p.Ala843=) c.1518A>C (p.Ala506=) | |
12 | g.101761735G>A | CA386296454 | GNPTAB | c.2744C>T (p.Ala915Val) c.2663C>T (p.Ala888Val) c.2528C>T (p.Ala843Val) c.1517C>T (p.Ala506Val) | |
12 | g.101761735G>C | CA386296455 | GNPTAB | c.2744C>G (p.Ala915Gly) c.2663C>G (p.Ala888Gly) c.2528C>G (p.Ala843Gly) c.1517C>G (p.Ala506Gly) | |
12 | g.101761735G>T | CA386296456 | GNPTAB | c.2744C>A (p.Ala915Glu) c.2663C>A (p.Ala888Glu) c.2528C>A (p.Ala843Glu) c.1517C>A (p.Ala506Glu) | |
12 | g.101761736C>A | CA386296459 | GNPTAB | c.2743G>T (p.Ala915Ser) c.2662G>T (p.Ala888Ser) c.2527G>T (p.Ala843Ser) c.1516G>T (p.Ala506Ser) | |
12 | g.101761736C>G | CA386296458 | GNPTAB | c.2743G>C (p.Ala915Pro) c.2662G>C (p.Ala888Pro) c.2527G>C (p.Ala843Pro) c.1516G>C (p.Ala506Pro) | |
12 | g.101761736C>T | CA386296457 | GNPTAB | c.2743G>A (p.Ala915Thr) c.2662G>A (p.Ala888Thr) c.2527G>A (p.Ala843Thr) c.1516G>A (p.Ala506Thr) | |
12 | g.101761737dup | CA2839427970 | GNPTAB | c.2743dup (p.Ala915GlyfsTer5) c.2662dup (p.Ala888GlyfsTer5) c.2527dup (p.Ala843GlyfsTer5) c.1516dup (p.Ala506GlyfsTer5) | |
12 | g.101761737C>A | CA386296460 | GNPTAB | c.2742G>T (p.Leu914Phe) c.2661G>T (p.Leu887Phe) c.2526G>T (p.Leu842Phe) c.1515G>T (p.Leu505Phe) | |
12 | g.101761737C>G | CA386296461 | GNPTAB | c.2742G>C (p.Leu914Phe) c.2661G>C (p.Leu887Phe) c.2526G>C (p.Leu842Phe) c.1515G>C (p.Leu505Phe) | |
12 | g.101761737C>T | CA481576843 | GNPTAB | c.2742G>A (p.Leu914=) c.2661G>A (p.Leu887=) c.2526G>A (p.Leu842=) c.1515G>A (p.Leu505=) | ClinVar gnomAD v4 |
12 | g.101761738A= | CA2058953224 | GNPTAB | c.2741T= (p.Leu914=) c.2660T= (p.Leu887=) c.2525T= (p.Leu842=) c.1514T= (p.Leu505=) | |
12 | g.101761738A>C | CA386296462 | GNPTAB | c.2741T>G (p.Leu914Trp) c.2660T>G (p.Leu887Trp) c.2525T>G (p.Leu842Trp) c.1514T>G (p.Leu505Trp) | |
12 | g.101761738A>G | CA386296463 | GNPTAB | c.2741T>C (p.Leu914Ser) c.2660T>C (p.Leu887Ser) c.2525T>C (p.Leu842Ser) c.1514T>C (p.Leu505Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101761738A>T | CA386296464 | GNPTAB | c.2741T>A (p.Leu914Ter) c.2660T>A (p.Leu887Ter) c.2525T>A (p.Leu842Ter) c.1514T>A (p.Leu505Ter) | |
12 | g.101761738_101761741dup | CA2620428761 | GNPTAB | c.2738_2741dup (p.Ala915IlefsTer6) c.2657_2660dup (p.Ala888IlefsTer6) c.2522_2525dup (p.Ala843IlefsTer6) c.1511_1514dup (p.Ala506IlefsTer6) | gnomAD v4 |
12 | g.101761739A>C | CA386296465 | GNPTAB | c.2740T>G (p.Leu914Val) c.2659T>G (p.Leu887Val) c.2524T>G (p.Leu842Val) c.1513T>G (p.Leu505Val) | |
12 | g.101761739A>G | CA481576844 | GNPTAB | c.2740T>C (p.Leu914=) c.2659T>C (p.Leu887=) c.2524T>C (p.Leu842=) c.1513T>C (p.Leu505=) | ClinVar dbSNP gnomAD v4 |
12 | g.101761739A>T | CA386296466 | GNPTAB | c.2740T>A (p.Leu914Met) c.2659T>A (p.Leu887Met) c.2524T>A (p.Leu842Met) c.1513T>A (p.Leu505Met) | |
12 | g.101761740T>A | CA386296467 | GNPTAB | c.2739A>T (p.Gln913His) c.2658A>T (p.Gln886His) c.2523A>T (p.Gln841His) c.1512A>T (p.Gln504His) | |
12 | g.101761740T>C | CA481576845 | GNPTAB | c.2739A>G (p.Gln913=) c.2658A>G (p.Gln886=) c.2523A>G (p.Gln841=) c.1512A>G (p.Gln504=) | |
12 | g.101761740T>G | CA386296468 | GNPTAB | c.2739A>C (p.Gln913His) c.2658A>C (p.Gln886His) c.2523A>C (p.Gln841His) c.1512A>C (p.Gln504His) | |
12 | g.101761741T>A | CA386296469 | GNPTAB | c.2738A>T (p.Gln913Leu) c.2657A>T (p.Gln886Leu) c.2522A>T (p.Gln841Leu) c.1511A>T (p.Gln504Leu) | |
12 | g.101761741T>C | CA386296470 | GNPTAB | c.2738A>G (p.Gln913Arg) c.2657A>G (p.Gln886Arg) c.2522A>G (p.Gln841Arg) c.1511A>G (p.Gln504Arg) | |
12 | g.101761741T>G | CA386296471 | GNPTAB | c.2738A>C (p.Gln913Pro) c.2657A>C (p.Gln886Pro) c.2522A>C (p.Gln841Pro) c.1511A>C (p.Gln504Pro) | |
12 | g.101761744_101761745del | CA2580616842 | GNPTAB | c.2737_2738del (p.Gln913IlefsTer6) c.2656_2657del (p.Gln886IlefsTer6) c.2521_2522del (p.Gln841IlefsTer6) c.1510_1511del (p.Gln504IlefsTer6) | ClinVar dbSNP gnomAD v4 |
12 | g.101761742G>A | CA386296474 | GNPTAB | c.2737C>T (p.Gln913Ter) c.2656C>T (p.Gln886Ter) c.2521C>T (p.Gln841Ter) c.1510C>T (p.Gln504Ter) | ClinVar |
12 | g.101761742G>C | CA386296472 | GNPTAB | c.2737C>G (p.Gln913Glu) c.2656C>G (p.Gln886Glu) c.2521C>G (p.Gln841Glu) c.1510C>G (p.Gln504Glu) | gnomAD v4 |
12 | g.101761742G>T | CA386296473 | GNPTAB | c.2737C>A (p.Gln913Lys) c.2656C>A (p.Gln886Lys) c.2521C>A (p.Gln841Lys) c.1510C>A (p.Gln504Lys) | |
12 | g.101761743T>A | CA481576846 | GNPTAB | c.2736A>T (p.Thr912=) c.2655A>T (p.Thr885=) c.2520A>T (p.Thr840=) c.1509A>T (p.Thr503=) | |
12 | g.101761743T>C | CA481576847 | GNPTAB | c.2736A>G (p.Thr912=) c.2655A>G (p.Thr885=) c.2520A>G (p.Thr840=) c.1509A>G (p.Thr503=) | |
12 | g.101761743T>G | CA481576848 | GNPTAB | c.2736A>C (p.Thr912=) c.2655A>C (p.Thr885=) c.2520A>C (p.Thr840=) c.1509A>C (p.Thr503=) | gnomAD v4 |
12 | g.101761744G>A | CA386296475 | GNPTAB | c.2735C>T (p.Thr912Ile) c.2654C>T (p.Thr885Ile) c.2519C>T (p.Thr840Ile) c.1508C>T (p.Thr503Ile) | |
12 | g.101761744G>C | CA386296476 | GNPTAB | c.2735C>G (p.Thr912Arg) c.2654C>G (p.Thr885Arg) c.2519C>G (p.Thr840Arg) c.1508C>G (p.Thr503Arg) | |
12 | g.101761744G>T | CA386296477 | GNPTAB | c.2735C>A (p.Thr912Lys) c.2654C>A (p.Thr885Lys) c.2519C>A (p.Thr840Lys) c.1508C>A (p.Thr503Lys) | gnomAD v4 |
12 | g.101761745T>A | CA386296478 | GNPTAB | c.2734A>T (p.Thr912Ser) c.2653A>T (p.Thr885Ser) c.2518A>T (p.Thr840Ser) c.1507A>T (p.Thr503Ser) | |
12 | g.101761745T>C | CA6746351 | GNPTAB | c.2734A>G (p.Thr912Ala) c.2653A>G (p.Thr885Ala) c.2518A>G (p.Thr840Ala) c.1507A>G (p.Thr503Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101761745T>G | CA386296479 | GNPTAB | c.2734A>C (p.Thr912Pro) c.2653A>C (p.Thr885Pro) c.2518A>C (p.Thr840Pro) c.1507A>C (p.Thr503Pro) | |
12 | g.101761745T= | CA2058953229 | GNPTAB | c.2734A= (p.Thr912=) c.2653A= (p.Thr885=) c.2518A= (p.Thr840=) c.1507A= (p.Thr503=) | |
12 | g.101761746_101761752del | CA912973313 | GNPTAB | c.2728_2734del (p.Leu910HisfsTer16) c.2647_2653del (p.Leu883HisfsTer16) c.2512_2518del (p.Leu838HisfsTer16) c.1501_1507del (p.Leu501HisfsTer16) | |
12 | g.101761746C>A | CA386296480 | GNPTAB | c.2733G>T (p.Lys911Asn) c.2652G>T (p.Lys884Asn) c.2517G>T (p.Lys839Asn) c.1506G>T (p.Lys502Asn) | |
12 | g.101761746C>G | CA386296481 | GNPTAB | c.2733G>C (p.Lys911Asn) c.2652G>C (p.Lys884Asn) c.2517G>C (p.Lys839Asn) c.1506G>C (p.Lys502Asn) | |
12 | g.101761746C>T | CA481576849 | GNPTAB | c.2733G>A (p.Lys911=) c.2652G>A (p.Lys884=) c.2517G>A (p.Lys839=) c.1506G>A (p.Lys502=) | |
12 | g.101761746_101761752delinsCTTCAAT | CA2058953233 | GNPTAB | c.2727_2733delinsATTGAAG (p.Ser909=) c.2646_2652delinsATTGAAG (p.Ser882=) c.2511_2517delinsATTGAAG (p.Ser837=) c.1500_1506delinsATTGAAG (p.Ser500=) | |
12 | g.101761747T>A | CA386296482 | GNPTAB | c.2732A>T (p.Lys911Met) c.2651A>T (p.Lys884Met) c.2516A>T (p.Lys839Met) c.1505A>T (p.Lys502Met) | |
12 | g.101761747T>C | CA386296483 | GNPTAB | c.2732A>G (p.Lys911Arg) c.2651A>G (p.Lys884Arg) c.2516A>G (p.Lys839Arg) c.1505A>G (p.Lys502Arg) | gnomAD v4 |
12 | g.101761747T>G | CA386296484 | GNPTAB | c.2732A>C (p.Lys911Thr) c.2651A>C (p.Lys884Thr) c.2516A>C (p.Lys839Thr) c.1505A>C (p.Lys502Thr) | |
12 | g.101761747_101761752del | CA6746352 | GNPTAB | c.2727_2732del (p.Leu910_Lys911del) c.2646_2651del (p.Leu883_Lys884del) c.2511_2516del (p.Leu838_Lys839del) c.1500_1505del (p.Leu501_Lys502del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101761748T>A | CA386296486 | GNPTAB | c.2731A>T (p.Lys911Ter) c.2650A>T (p.Lys884Ter) c.2515A>T (p.Lys839Ter) c.1504A>T (p.Lys502Ter) | ClinVar dbSNP |
12 | g.101761748T>C | CA386296487 | GNPTAB | c.2731A>G (p.Lys911Glu) c.2650A>G (p.Lys884Glu) c.2515A>G (p.Lys839Glu) c.1504A>G (p.Lys502Glu) | |
12 | g.101761748T>G | CA386296485 | GNPTAB | c.2731A>C (p.Lys911Gln) c.2650A>C (p.Lys884Gln) c.2515A>C (p.Lys839Gln) c.1504A>C (p.Lys502Gln) | |
12 | g.101761748T= | CA2058953238 | GNPTAB | c.2731A= (p.Lys911=) c.2650A= (p.Lys884=) c.2515A= (p.Lys839=) c.1504A= (p.Lys502=) | |
12 | g.101761749C>A | CA386296489 | GNPTAB | c.2730G>T (p.Leu910Phe) c.2649G>T (p.Leu883Phe) c.2514G>T (p.Leu838Phe) c.1503G>T (p.Leu501Phe) | gnomAD v4 |
12 | g.101761749C>G | CA386296488 | GNPTAB | c.2730G>C (p.Leu910Phe) c.2649G>C (p.Leu883Phe) c.2514G>C (p.Leu838Phe) c.1503G>C (p.Leu501Phe) | |
12 | g.101761749C>T | CA481576850 | GNPTAB | c.2730G>A (p.Leu910=) c.2649G>A (p.Leu883=) c.2514G>A (p.Leu838=) c.1503G>A (p.Leu501=) | |
12 | g.101761750A>C | CA386296490 | GNPTAB | c.2729T>G (p.Leu910Trp) c.2648T>G (p.Leu883Trp) c.2513T>G (p.Leu838Trp) c.1502T>G (p.Leu501Trp) | |
12 | g.101761750A>G | CA386296491 | GNPTAB | c.2729T>C (p.Leu910Ser) c.2648T>C (p.Leu883Ser) c.2513T>C (p.Leu838Ser) c.1502T>C (p.Leu501Ser) | |
12 | g.101761750A>T | CA386296492 | GNPTAB | c.2729T>A (p.Leu910Ter) c.2648T>A (p.Leu883Ter) c.2513T>A (p.Leu838Ter) c.1502T>A (p.Leu501Ter) | |
12 | g.101761751A= | CA2058953242 | GNPTAB | c.2728T= (p.Leu910=) c.2647T= (p.Leu883=) c.2512T= (p.Leu838=) c.1501T= (p.Leu501=) | |
12 | g.101761751A>C | CA386296493 | GNPTAB | c.2728T>G (p.Leu910Val) c.2647T>G (p.Leu883Val) c.2512T>G (p.Leu838Val) c.1501T>G (p.Leu501Val) | |
12 | g.101761751A>G | CA481576851 | GNPTAB | c.2728T>C (p.Leu910=) c.2647T>C (p.Leu883=) c.2512T>C (p.Leu838=) c.1501T>C (p.Leu501=) | ClinVar dbSNP gnomAD v4 |
12 | g.101761751A>T | CA386296494 | GNPTAB | c.2728T>A (p.Leu910Met) c.2647T>A (p.Leu883Met) c.2512T>A (p.Leu838Met) c.1501T>A (p.Leu501Met) | |
12 | g.101761752T>A | CA481576852 | GNPTAB | c.2727A>T (p.Ser909=) c.2646A>T (p.Ser882=) c.2511A>T (p.Ser837=) c.1500A>T (p.Ser500=) | |
12 | g.101761752T>C | CA6746353 | GNPTAB | c.2727A>G (p.Ser909=) c.2646A>G (p.Ser882=) c.2511A>G (p.Ser837=) c.1500A>G (p.Ser500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101761752T>G | CA481576853 | GNPTAB | c.2727A>C (p.Ser909=) c.2646A>C (p.Ser882=) c.2511A>C (p.Ser837=) c.1500A>C (p.Ser500=) | |
12 | g.101761752T= | CA2058953246 | GNPTAB | c.2727A= (p.Ser909=) c.2646A= (p.Ser882=) c.2511A= (p.Ser837=) c.1500A= (p.Ser500=) | |
12 | g.101761753G>A | CA386296495 | GNPTAB | c.2726C>T (p.Ser909Leu) c.2645C>T (p.Ser882Leu) c.2510C>T (p.Ser837Leu) c.1499C>T (p.Ser500Leu) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101761753G>C | CA386296496 | GNPTAB | c.2726C>G (p.Ser909Ter) c.2645C>G (p.Ser882Ter) c.2510C>G (p.Ser837Ter) c.1499C>G (p.Ser500Ter) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101761753G= | CA2058953252 | GNPTAB | c.2726C= (p.Ser909=) c.2645C= (p.Ser882=) c.2510C= (p.Ser837=) c.1499C= (p.Ser500=) | |
12 | g.101761753G>T | CA386296497 | GNPTAB | c.2726C>A (p.Ser909Ter) c.2645C>A (p.Ser882Ter) c.2510C>A (p.Ser837Ter) c.1499C>A (p.Ser500Ter) | |
12 | g.101761754A= | CA2058953257 | GNPTAB | c.2725T= (p.Ser909=) c.2644T= (p.Ser882=) c.2509T= (p.Ser837=) c.1498T= (p.Ser500=) | |
12 | g.101761754A>C | CA386296498 | GNPTAB | c.2725T>G (p.Ser909Ala) c.2644T>G (p.Ser882Ala) c.2509T>G (p.Ser837Ala) c.1498T>G (p.Ser500Ala) | ClinVar dbSNP gnomAD v4 |
12 | g.101761754A>G | CA386296499 | GNPTAB | c.2725T>C (p.Ser909Pro) c.2644T>C (p.Ser882Pro) c.2509T>C (p.Ser837Pro) c.1498T>C (p.Ser500Pro) | |
12 | g.101761754A>T | CA386296500 | GNPTAB | c.2725T>A (p.Ser909Thr) c.2644T>A (p.Ser882Thr) c.2509T>A (p.Ser837Thr) c.1498T>A (p.Ser500Thr) | |
12 | g.101761755C>A | CA386296502 | GNPTAB | c.2724G>T (p.Glu908Asp) c.2643G>T (p.Glu881Asp) c.2508G>T (p.Glu836Asp) c.1497G>T (p.Glu499Asp) | |
12 | g.101761755C>G | CA386296501 | GNPTAB | c.2724G>C (p.Glu908Asp) c.2643G>C (p.Glu881Asp) c.2508G>C (p.Glu836Asp) c.1497G>C (p.Glu499Asp) | |
12 | g.101761755C>T | CA481576854 | GNPTAB | c.2724G>A (p.Glu908=) c.2643G>A (p.Glu881=) c.2508G>A (p.Glu836=) c.1497G>A (p.Glu499=) | gnomAD v4 |
12 | g.101761756del | CA2575264952 | GNPTAB | c.2723del (p.Glu908GlyfsTer3) c.2642del (p.Glu881GlyfsTer3) c.2507del (p.Glu836GlyfsTer3) c.1496del (p.Glu499GlyfsTer3) | |
12 | g.101761756T>A | CA386296503 | GNPTAB | c.2723A>T (p.Glu908Val) c.2642A>T (p.Glu881Val) c.2507A>T (p.Glu836Val) c.1496A>T (p.Glu499Val) | |
12 | g.101761756T>C | CA386296504 | GNPTAB | c.2723A>G (p.Glu908Gly) c.2642A>G (p.Glu881Gly) c.2507A>G (p.Glu836Gly) c.1496A>G (p.Glu499Gly) | |
12 | g.101761756T>G | CA386296505 | GNPTAB | c.2723A>C (p.Glu908Ala) c.2642A>C (p.Glu881Ala) c.2507A>C (p.Glu836Ala) c.1496A>C (p.Glu499Ala) | |
12 | g.101761757C>A | CA386296506 | GNPTAB | c.2722G>T (p.Glu908Ter) c.2641G>T (p.Glu881Ter) c.2506G>T (p.Glu836Ter) c.1495G>T (p.Glu499Ter) | |
12 | g.101761757C= | CA2058953261 | GNPTAB | c.2722G= (p.Glu908=) c.2641G= (p.Glu881=) c.2506G= (p.Glu836=) c.1495G= (p.Glu499=) | |
12 | g.101761757C>G | CA386296507 | GNPTAB | c.2722G>C (p.Glu908Gln) c.2641G>C (p.Glu881Gln) c.2506G>C (p.Glu836Gln) c.1495G>C (p.Glu499Gln) | |
12 | g.101761757C>T | CA386296508 | GNPTAB | c.2722G>A (p.Glu908Lys) c.2641G>A (p.Glu881Lys) c.2506G>A (p.Glu836Lys) c.1495G>A (p.Glu499Lys) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101761758T>A | CA386296509 | GNPTAB | c.2721A>T (p.Glu907Asp) c.2640A>T (p.Glu880Asp) c.2505A>T (p.Glu835Asp) c.1494A>T (p.Glu498Asp) | |
12 | g.101761758T>C | CA481576855 | GNPTAB | c.2721A>G (p.Glu907=) c.2640A>G (p.Glu880=) c.2505A>G (p.Glu835=) c.1494A>G (p.Glu498=) | |
12 | g.101761758T>G | CA386296510 | GNPTAB | c.2721A>C (p.Glu907Asp) c.2640A>C (p.Glu880Asp) c.2505A>C (p.Glu835Asp) c.1494A>C (p.Glu498Asp) | |
12 | g.101761758_101761759del | CA2575264953 | GNPTAB | c.2720_2721del (p.Glu907GlyfsTer12) c.2639_2640del (p.Glu880GlyfsTer12) c.2504_2505del (p.Glu835GlyfsTer12) c.1493_1494del (p.Glu498GlyfsTer12) | |
12 | g.101761759T>A | CA386296511 | GNPTAB | c.2720A>T (p.Glu907Val) c.2639A>T (p.Glu880Val) c.2504A>T (p.Glu835Val) c.1493A>T (p.Glu498Val) | |
12 | g.101761759T>C | CA386296512 | GNPTAB | c.2720A>G (p.Glu907Gly) c.2639A>G (p.Glu880Gly) c.2504A>G (p.Glu835Gly) c.1493A>G (p.Glu498Gly) | |
12 | g.101761759T>G | CA386296513 | GNPTAB | c.2720A>C (p.Glu907Ala) c.2639A>C (p.Glu880Ala) c.2504A>C (p.Glu835Ala) c.1493A>C (p.Glu498Ala) | |
12 | g.101761760C>A | CA386296514 | GNPTAB | c.2719G>T (p.Glu907Ter) c.2638G>T (p.Glu880Ter) c.2503G>T (p.Glu835Ter) c.1492G>T (p.Glu498Ter) | |
12 | g.101761760C>G | CA386296515 | GNPTAB | c.2719G>C (p.Glu907Gln) c.2638G>C (p.Glu880Gln) c.2503G>C (p.Glu835Gln) c.1492G>C (p.Glu498Gln) | |
12 | g.101761760C>T | CA386296516 | GNPTAB | c.2719G>A (p.Glu907Lys) c.2638G>A (p.Glu880Lys) c.2503G>A (p.Glu835Lys) c.1492G>A (p.Glu498Lys) | |
12 | g.101761761T>A | CA386296517 | GNPTAB | c.2718A>T (p.Glu906Asp) c.2637A>T (p.Glu879Asp) c.2502A>T (p.Glu834Asp) c.1491A>T (p.Glu497Asp) | |
12 | g.101761761T>C | CA481576856 | GNPTAB | c.2718A>G (p.Glu906=) c.2637A>G (p.Glu879=) c.2502A>G (p.Glu834=) c.1491A>G (p.Glu497=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101761761T>G | CA386296518 | GNPTAB | c.2718A>C (p.Glu906Asp) c.2637A>C (p.Glu879Asp) c.2502A>C (p.Glu834Asp) c.1491A>C (p.Glu497Asp) | |
12 | g.101761761T= | CA2058953263 | GNPTAB | c.2718A= (p.Glu906=) c.2637A= (p.Glu879=) c.2502A= (p.Glu834=) c.1491A= (p.Glu497=) | |
12 | g.101761762T>A | CA386296519 | GNPTAB | c.2717A>T (p.Glu906Val) c.2636A>T (p.Glu879Val) c.2501A>T (p.Glu834Val) c.1490A>T (p.Glu497Val) | |
12 | g.101761762T>C | CA386296521 | GNPTAB | c.2717A>G (p.Glu906Gly) c.2636A>G (p.Glu879Gly) c.2501A>G (p.Glu834Gly) c.1490A>G (p.Glu497Gly) | |
12 | g.101761762T>G | CA386296520 | GNPTAB | c.2717A>C (p.Glu906Ala) c.2636A>C (p.Glu879Ala) c.2501A>C (p.Glu834Ala) c.1490A>C (p.Glu497Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101761762T= | CA2058953265 | GNPTAB | c.2717A= (p.Glu906=) c.2636A= (p.Glu879=) c.2501A= (p.Glu834=) c.1490A= (p.Glu497=) | |
12 | g.101761763C>A | CA386296522 | GNPTAB | c.2716G>T (p.Glu906Ter) c.2635G>T (p.Glu879Ter) c.2500G>T (p.Glu834Ter) c.1489G>T (p.Glu497Ter) | |
12 | g.101761763C= | CA2058953269 | GNPTAB | c.2716G= (p.Glu906=) c.2635G= (p.Glu879=) c.2500G= (p.Glu834=) c.1489G= (p.Glu497=) | |
12 | g.101761763C>G | CA386296523 | GNPTAB | c.2716G>C (p.Glu906Gln) c.2635G>C (p.Glu879Gln) c.2500G>C (p.Glu834Gln) c.1489G>C (p.Glu497Gln) | |
12 | g.101761763C>T | CA386296524 | GNPTAB | c.2716G>A (p.Glu906Lys) c.2635G>A (p.Glu879Lys) c.2500G>A (p.Glu834Lys) c.1489G>A (p.Glu497Lys) | |
12 | g.101761763_101761764insGT | CA6746354 | GNPTAB | c.2716-1_2716insAC (n.2716-1_2716insAC) c.2635-1_2635insAC (n.2635-1_2635insAC) c.2500-1_2500insAC (n.2500-1_2500insAC) c.1489-1_1489insAC (n.1489-1_1489insAC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101761763_101761764insGTCGAGAAGAT | CA6746355 | GNPTAB | c.2716-1_2716insATCTTCTCGAC (n.2716-1_2716insATCTTCTCGAC) c.2635-1_2635insATCTTCTCGAC (n.2635-1_2635insATCTTCTCGAC) c.2500-1_2500insATCTTCTCGAC (n.2500-1_2500insATCTTCTCGAC) c.1489-1_1489insATCTTCTCGAC (n.1489-1_1489insATCTTCTCGAC) | dbSNP ExAC gnomAD v4 |
12 | g.101761764C>A | CA386296525 | GNPTAB | c.2716-1G>T (n.2716-1G>T) c.2635-1G>T (n.2635-1G>T) c.2500-1G>T (n.2500-1G>T) c.1489-1G>T (n.1489-1G>T) | |
12 | g.101761764C= | CA2058953274 | GNPTAB | c.2716-1G= (n.2716-1G=) c.2635-1G= (n.2635-1G=) c.2500-1G= (n.2500-1G=) c.1489-1G= (n.1489-1G=) | |
12 | g.101761764C>G | CA242454413 | GNPTAB | c.2716-1G>C (n.2716-1G>C) c.2635-1G>C (n.2635-1G>C) c.2500-1G>C (n.2500-1G>C) c.1489-1G>C (n.1489-1G>C) | dbSNP |
12 | g.101761764C>T | CA386296526 | GNPTAB | c.2716-1G>A (n.2716-1G>A) c.2635-1G>A (n.2635-1G>A) c.2500-1G>A (n.2500-1G>A) c.1489-1G>A (n.1489-1G>A) | |
12 | g.101761764_101761765insGAGAAGATCT | CA6746356 | GNPTAB | c.2716-2_2716-1insAGATCTTCTC (n.2716-2_2716-1insAGATCTTCTC) c.2635-2_2635-1insAGATCTTCTC (n.2635-2_2635-1insAGATCTTCTC) c.2500-2_2500-1insAGATCTTCTC (n.2500-2_2500-1insAGATCTTCTC) c.1489-2_1489-1insAGATCTTCTC (n.1489-2_1489-1insAGATCTTCTC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101761765T>A | CA386296527 | GNPTAB | c.2716-2A>T (n.2716-2A>T) c.2635-2A>T (n.2635-2A>T) c.2500-2A>T (n.2500-2A>T) c.1489-2A>T (n.1489-2A>T) | |
12 | g.101761765T>C | CA386296528 | GNPTAB | c.2716-2A>G (n.2716-2A>G) c.2635-2A>G (n.2635-2A>G) c.2500-2A>G (n.2500-2A>G) c.1489-2A>G (n.1489-2A>G) | gnomAD v4 |
12 | g.101761765T>G | CA386296529 | GNPTAB | c.2716-2A>C (n.2716-2A>C) c.2635-2A>C (n.2635-2A>C) c.2500-2A>C (n.2500-2A>C) c.1489-2A>C (n.1489-2A>C) | |
12 | g.101761765T= | CA2058953278 | GNPTAB | c.2716-2A= (n.2716-2A=) c.2635-2A= (n.2635-2A=) c.2500-2A= (n.2500-2A=) c.1489-2A= (n.1489-2A=) | |
12 | g.101761765_101761766insC | CA242454418 | GNPTAB | c.2716-3_2716-2insG (n.2716-3_2716-2insG) c.2635-3_2635-2insG (n.2635-3_2635-2insG) c.2500-3_2500-2insG (n.2500-3_2500-2insG) c.1489-3_1489-2insG (n.1489-3_1489-2insG) | dbSNP |
12 | g.101761765_101761766insTG | CA6746357 | GNPTAB | c.2716-3_2716-2insCA (n.2716-3_2716-2insCA) c.2635-3_2635-2insCA (n.2635-3_2635-2insCA) c.2500-3_2500-2insCA (n.2500-3_2500-2insCA) c.1489-3_1489-2insCA (n.1489-3_1489-2insCA) | dbSNP ExAC gnomAD v4 |
12 | g.101761766G= | CA2058953283 | GNPTAB | c.2716-3C= (n.2716-3C=) c.2635-3C= (n.2635-3C=) c.2500-3C= (n.2500-3C=) c.1489-3C= (n.1489-3C=) | |
12 | g.101761766G>T | CA2620428762 | GNPTAB | c.2716-3C>A (n.2716-3C>A) c.2635-3C>A (n.2635-3C>A) c.2500-3C>A (n.2500-3C>A) c.1489-3C>A (n.1489-3C>A) | gnomAD v4 |
12 | g.101761766_101761768delinsGAA | CA2058953281 | GNPTAB | c.2716-5_2716-3delinsTTC (n.2716-5_2716-3delinsTTC) c.2635-5_2635-3delinsTTC (n.2635-5_2635-3delinsTTC) c.2500-5_2500-3delinsTTC (n.2500-5_2500-3delinsTTC) c.1489-5_1489-3delinsTTC (n.1489-5_1489-3delinsTTC) | |
12 | g.101761766_101761767insGAAATACTTTTTTTTCTCCCATGGC | CA6746358 | GNPTAB | c.2716-4_2716-3insGCCATGGGAGAAAAAAAAGTATTTC (n.2716-4_2716-3insGCCATGGGAGAAAAAAAAGTATTTC) c.2635-4_2635-3insGCCATGGGAGAAAAAAAAGTATTTC (n.2635-4_2635-3insGCCATGGGAGAAAAAAAAGTATTTC) c.2500-4_2500-3insGCCATGGGAGAAAAAAAAGTATTTC (n.2500-4_2500-3insGCCATGGGAGAAAAAAAAGTATTTC) c.1489-4_1489-3insGCCATGGGAGAAAAAAAAGTATTTC (n.1489-4_1489-3insGCCATGGGAGAAAAAAAAGTATTTC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101761766_101761767insGAAATACTTTTTTTTCTCCCATGGCA | CA6746359 | GNPTAB | c.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC (n.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC) c.2635-4_2635-3insTGCCATGGGAGAAAAAAAAGTATTTC (n.2635-4_2635-3insTGCCATGGGAGAAAAAAAAGTATTTC) c.2500-4_2500-3insTGCCATGGGAGAAAAAAAAGTATTTC (n.2500-4_2500-3insTGCCATGGGAGAAAAAAAAGTATTTC) c.1489-4_1489-3insTGCCATGGGAGAAAAAAAAGTATTTC (n.1489-4_1489-3insTGCCATGGGAGAAAAAAAAGTATTTC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101761770dup | CA2620428763 | GNPTAB | c.2716-4dup (n.2716-4dup) c.2635-4dup (n.2635-4dup) c.2500-4dup (n.2500-4dup) c.1489-4dup (n.1489-4dup) | gnomAD v4 |
12 | g.101761769_101761770del | CA2058953287 | GNPTAB | c.2716-5_2716-4del (n.2716-5_2716-4del) c.2635-5_2635-4del (n.2635-5_2635-4del) c.2500-5_2500-4del (n.2500-5_2500-4del) c.1489-5_1489-4del (n.1489-5_1489-4del) | dbSNP gnomAD v4 |
12 | g.101761769_101761770insTACTTTTTTTTCTCCCATGGCAA | CA2620428764 | GNPTAB | c.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT (n.2716-5_2716-4insGCCATGGGAGAAAAAAAAGTATT) c.2635-5_2635-4insGCCATGGGAGAAAAAAAAGTATT (n.2635-5_2635-4insGCCATGGGAGAAAAAAAAGTATT) c.2500-5_2500-4insGCCATGGGAGAAAAAAAAGTATT (n.2500-5_2500-4insGCCATGGGAGAAAAAAAAGTATT) c.1489-5_1489-4insGCCATGGGAGAAAAAAAAGTATT (n.1489-5_1489-4insGCCATGGGAGAAAAAAAAGTATT) | gnomAD v4 |
12 | g.101761769A>T | CA2797214280 | GNPTAB | c.2716-6T>A (n.2716-6T>A) c.2635-6T>A (n.2635-6T>A) c.2500-6T>A (n.2500-6T>A) c.1489-6T>A (n.1489-6T>A) | |
12 | g.101761770A>G | CA2620428765 | GNPTAB | c.2716-7T>C (n.2716-7T>C) c.2635-7T>C (n.2635-7T>C) c.2500-7T>C (n.2500-7T>C) c.1489-7T>C (n.1489-7T>C) | gnomAD v4 |
12 | g.101761771G>T | CA2620428766 | GNPTAB | c.2716-8C>A (n.2716-8C>A) c.2635-8C>A (n.2635-8C>A) c.2500-8C>A (n.2500-8C>A) c.1489-8C>A (n.1489-8C>A) | gnomAD v4 |
12 | g.101761773G= | CA2058953290 | GNPTAB | c.2716-10C= (n.2716-10C=) c.2635-10C= (n.2635-10C=) c.2500-10C= (n.2500-10C=) c.1489-10C= (n.1489-10C=) | |
12 | g.101761773G>T | CA682784296 | GNPTAB | c.2716-10C>A (n.2716-10C>A) c.2635-10C>A (n.2635-10C>A) c.2500-10C>A (n.2500-10C>A) c.1489-10C>A (n.1489-10C>A) | dbSNP gnomAD v4 |
12 | g.101761775del | CA2620428767 | GNPTAB | c.2716-11del (n.2716-11del) c.2635-11del (n.2635-11del) c.2500-11del (n.2500-11del) c.1489-11del (n.1489-11del) | gnomAD v4 |
12 | g.101761776T>A | CA607153490 | GNPTAB | c.2716-13A>T (n.2716-13A>T) c.2635-13A>T (n.2635-13A>T) c.2500-13A>T (n.2500-13A>T) c.1489-13A>T (n.1489-13A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101761776T>G | CA242454428 | GNPTAB | c.2716-13A>C (n.2716-13A>C) c.2635-13A>C (n.2635-13A>C) c.2500-13A>C (n.2500-13A>C) c.1489-13A>C (n.1489-13A>C) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101761776T= | CA2058953292 | GNPTAB | c.2716-13A= (n.2716-13A=) c.2635-13A= (n.2635-13A=) c.2500-13A= (n.2500-13A=) c.1489-13A= (n.1489-13A=) | |
12 | g.101761778C>T | CA2620428768 | GNPTAB | c.2716-15G>A (n.2716-15G>A) c.2635-15G>A (n.2635-15G>A) c.2500-15G>A (n.2500-15G>A) c.1489-15G>A (n.1489-15G>A) | gnomAD v4 |
12 | g.101761780A= | CA2058953296 | GNPTAB | c.2716-17T= (n.2716-17T=) c.2635-17T= (n.2635-17T=) c.2500-17T= (n.2500-17T=) c.1489-17T= (n.1489-17T=) | |
12 | g.101761780A>G | CA2058953295 | GNPTAB | c.2716-17T>C (n.2716-17T>C) c.2635-17T>C (n.2635-17T>C) c.2500-17T>C (n.2500-17T>C) c.1489-17T>C (n.1489-17T>C) | ClinVar dbSNP gnomAD v4 |
12 | g.101761781C= | CA2058953299 | GNPTAB | c.2716-18G= (n.2716-18G=) c.2635-18G= (n.2635-18G=) c.2500-18G= (n.2500-18G=) c.1489-18G= (n.1489-18G=) | |
12 | g.101761781C>T | CA6746360 | GNPTAB | c.2716-18G>A (n.2716-18G>A) c.2635-18G>A (n.2635-18G>A) c.2500-18G>A (n.2500-18G>A) c.1489-18G>A (n.1489-18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101761782A= | CA2058953302 | GNPTAB | c.2716-19T= (n.2716-19T=) c.2635-19T= (n.2635-19T=) c.2500-19T= (n.2500-19T=) c.1489-19T= (n.1489-19T=) | |
12 | g.101761782A>C | CA607153491 | GNPTAB | c.2716-19T>G (n.2716-19T>G) c.2635-19T>G (n.2635-19T>G) c.2500-19T>G (n.2500-19T>G) c.1489-19T>G (n.1489-19T>G) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101761782A>G | CA607153492 | GNPTAB | c.2716-19T>C (n.2716-19T>C) c.2635-19T>C (n.2635-19T>C) c.2500-19T>C (n.2500-19T>C) c.1489-19T>C (n.1489-19T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101761783del | CA2620444153 | GNPTAB | c.2716-20del (n.2716-20del) c.2635-20del (n.2635-20del) c.2500-20del (n.2500-20del) c.1489-20del (n.1489-20del) | gnomAD v4 |
12 | g.101761783T>A | CA6746361 | GNPTAB | c.2716-20A>T (n.2716-20A>T) c.2635-20A>T (n.2635-20A>T) c.2500-20A>T (n.2500-20A>T) c.1489-20A>T (n.1489-20A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101761783T>C | CA682784328 | GNPTAB | c.2716-20A>G (n.2716-20A>G) c.2635-20A>G (n.2635-20A>G) c.2500-20A>G (n.2500-20A>G) c.1489-20A>G (n.1489-20A>G) | ClinVar dbSNP gnomAD v4 |
12 | g.101761783T= | CA2058953306 | GNPTAB | c.2716-20A= (n.2716-20A=) c.2635-20A= (n.2635-20A=) c.2500-20A= (n.2500-20A=) c.1489-20A= (n.1489-20A=) | |
12 | g.101761784G>A | CA6746362 | GNPTAB | c.2716-21C>T (n.2716-21C>T) c.2635-21C>T (n.2635-21C>T) c.2500-21C>T (n.2500-21C>T) c.1489-21C>T (n.1489-21C>T) | dbSNP ExAC gnomAD v2 |
12 | g.101761784G>C | CA682784333 | GNPTAB | c.2716-21C>G (n.2716-21C>G) c.2635-21C>G (n.2635-21C>G) c.2500-21C>G (n.2500-21C>G) c.1489-21C>G (n.1489-21C>G) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101761784G= | CA2058953311 | GNPTAB | c.2716-21C= (n.2716-21C=) c.2635-21C= (n.2635-21C=) c.2500-21C= (n.2500-21C=) c.1489-21C= (n.1489-21C=) | |
12 | g.101761784G>T | CA2620444172 | GNPTAB | c.2716-21C>A (n.2716-21C>A) c.2635-21C>A (n.2635-21C>A) c.2500-21C>A (n.2500-21C>A) c.1489-21C>A (n.1489-21C>A) | gnomAD v4 |
12 | g.101761785T>A | CA2620444173 | GNPTAB | c.2716-22A>T (n.2716-22A>T) c.2635-22A>T (n.2635-22A>T) c.2500-22A>T (n.2500-22A>T) c.1489-22A>T (n.1489-22A>T) | gnomAD v4 |
12 | g.101761785T>C | CA2620444174 | GNPTAB | c.2716-22A>G (n.2716-22A>G) c.2635-22A>G (n.2635-22A>G) c.2500-22A>G (n.2500-22A>G) c.1489-22A>G (n.1489-22A>G) | gnomAD v4 |
12 | g.101761788C>T | CA2620444175 | GNPTAB | c.2716-25G>A (n.2716-25G>A) c.2635-25G>A (n.2635-25G>A) c.2500-25G>A (n.2500-25G>A) c.1489-25G>A (n.1489-25G>A) | gnomAD v4 |
12 | g.101761789T>C | CA2620444176 | GNPTAB | c.2716-26A>G (n.2716-26A>G) c.2635-26A>G (n.2635-26A>G) c.2500-26A>G (n.2500-26A>G) c.1489-26A>G (n.1489-26A>G) | gnomAD v4 |
12 | g.101761789T>G | CA2620444177 | GNPTAB | c.2716-26A>C (n.2716-26A>C) c.2635-26A>C (n.2635-26A>C) c.2500-26A>C (n.2500-26A>C) c.1489-26A>C (n.1489-26A>C) | gnomAD v4 |