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.101764246dup | CA16609428 | GNPTAB | c.2675dup (p.Leu892PhefsTer28) c.2594dup (p.Leu865PhefsTer28) c.2459dup (p.Leu820PhefsTer28) c.1448dup (p.Leu483PhefsTer28) | ClinVar dbSNP |
| 12 | g.101764246del | CA2058955323 | GNPTAB | c.2675del (p.Leu892CysfsTer19) c.2594del (p.Leu865CysfsTer19) c.2459del (p.Leu820CysfsTer19) c.1448del (p.Leu483CysfsTer19) | ClinVar dbSNP |
| 12 | g.101764246_101764252dup | CA6746393 | GNPTAB | c.2667_2673dup (p.Leu892GlyfsTer30) c.2586_2592dup (p.Leu865GlyfsTer30) c.2451_2457dup (p.Leu820GlyfsTer30) c.1440_1446dup (p.Leu483GlyfsTer30) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.101764246A= | CA2058955325 | GNPTAB | c.2671T= (p.Phe891=) c.2590T= (p.Phe864=) c.2455T= (p.Phe819=) c.1444T= (p.Phe482=) | |
| 12 | g.101764246A>C | CA386297508 | GNPTAB | c.2671T>G (p.Phe891Val) c.2590T>G (p.Phe864Val) c.2455T>G (p.Phe819Val) c.1444T>G (p.Phe482Val) | |
| 12 | g.101764246A>G | CA386297510 | GNPTAB | c.2671T>C (p.Phe891Leu) c.2590T>C (p.Phe864Leu) c.2455T>C (p.Phe819Leu) c.1444T>C (p.Phe482Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101764246A>T | CA386297512 | GNPTAB | c.2671T>A (p.Phe891Ile) c.2590T>A (p.Phe864Ile) c.2455T>A (p.Phe819Ile) c.1444T>A (p.Phe482Ile) | |
| 12 | g.101764247G>A | CA6746394 | GNPTAB | c.2670C>T (p.Gly890=) c.2589C>T (p.Gly863=) c.2454C>T (p.Gly818=) c.1443C>T (p.Gly481=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764247G>C | CA481319177 | GNPTAB | c.2670C>G (p.Gly890=) c.2589C>G (p.Gly863=) c.2454C>G (p.Gly818=) c.1443C>G (p.Gly481=) | |
| 12 | g.101764247G= | CA2058955326 | GNPTAB | c.2670C= (p.Gly890=) c.2589C= (p.Gly863=) c.2454C= (p.Gly818=) c.1443C= (p.Gly481=) | |
| 12 | g.101764247G>T | CA481319178 | GNPTAB | c.2670C>A (p.Gly890=) c.2589C>A (p.Gly863=) c.2454C>A (p.Gly818=) c.1443C>A (p.Gly481=) | |
| 12 | g.101764248C>A | CA386297517 | GNPTAB | c.2669G>T (p.Gly890Val) c.2588G>T (p.Gly863Val) c.2453G>T (p.Gly818Val) c.1442G>T (p.Gly481Val) | gnomAD v4 |
| 12 | g.101764248C>G | CA386297519 | GNPTAB | c.2669G>C (p.Gly890Ala) c.2588G>C (p.Gly863Ala) c.2453G>C (p.Gly818Ala) c.1442G>C (p.Gly481Ala) | |
| 12 | g.101764248C>T | CA386297515 | GNPTAB | c.2669G>A (p.Gly890Asp) c.2588G>A (p.Gly863Asp) c.2453G>A (p.Gly818Asp) c.1442G>A (p.Gly481Asp) | |
| 12 | g.101764249C>A | CA386297523 | GNPTAB | c.2668G>T (p.Gly890Cys) c.2587G>T (p.Gly863Cys) c.2452G>T (p.Gly818Cys) c.1441G>T (p.Gly481Cys) | |
| 12 | g.101764249C>G | CA386297521 | GNPTAB | c.2668G>C (p.Gly890Arg) c.2587G>C (p.Gly863Arg) c.2452G>C (p.Gly818Arg) c.1441G>C (p.Gly481Arg) | |
| 12 | g.101764249C>T | CA386297524 | GNPTAB | c.2668G>A (p.Gly890Ser) c.2587G>A (p.Gly863Ser) c.2452G>A (p.Gly818Ser) c.1441G>A (p.Gly481Ser) | |
| 12 | g.101764250C>A | CA386297526 | GNPTAB | c.2667G>T (p.Leu889Phe) c.2586G>T (p.Leu862Phe) c.2451G>T (p.Leu817Phe) c.1440G>T (p.Leu480Phe) | |
| 12 | g.101764250C>G | CA386297528 | GNPTAB | c.2667G>C (p.Leu889Phe) c.2586G>C (p.Leu862Phe) c.2451G>C (p.Leu817Phe) c.1440G>C (p.Leu480Phe) | |
| 12 | g.101764250C>T | CA481319181 | GNPTAB | c.2667G>A (p.Leu889=) c.2586G>A (p.Leu862=) c.2451G>A (p.Leu817=) c.1440G>A (p.Leu480=) | gnomAD v4 |
| 12 | g.101764251A>C | CA386297531 | GNPTAB | c.2666T>G (p.Leu889Trp) c.2585T>G (p.Leu862Trp) c.2450T>G (p.Leu817Trp) c.1439T>G (p.Leu480Trp) | |
| 12 | g.101764251A>G | CA386297535 | GNPTAB | c.2666T>C (p.Leu889Ser) c.2585T>C (p.Leu862Ser) c.2450T>C (p.Leu817Ser) c.1439T>C (p.Leu480Ser) | |
| 12 | g.101764251A>T | CA386297532 | GNPTAB | c.2666T>A (p.Leu889Ter) c.2585T>A (p.Leu862Ter) c.2450T>A (p.Leu817Ter) c.1439T>A (p.Leu480Ter) | |
| 12 | g.101764252del | CA2580085627 | GNPTAB | c.2666del (p.Leu889TrpfsTer22) c.2585del (p.Leu862TrpfsTer22) c.2450del (p.Leu817TrpfsTer22) c.1439del (p.Leu480TrpfsTer22) | ClinVar |
| 12 | g.101764252A= | CA2058955327 | GNPTAB | c.2665T= (p.Leu889=) c.2584T= (p.Leu862=) c.2449T= (p.Leu817=) c.1438T= (p.Leu480=) | |
| 12 | g.101764252A>C | CA386297537 | GNPTAB | c.2665T>G (p.Leu889Val) c.2584T>G (p.Leu862Val) c.2449T>G (p.Leu817Val) c.1438T>G (p.Leu480Val) | dbSNP COSMIC |
| 12 | g.101764252A>G | CA6746395 | GNPTAB | c.2665T>C (p.Leu889=) c.2584T>C (p.Leu862=) c.2449T>C (p.Leu817=) c.1438T>C (p.Leu480=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764252A>T | CA386297540 | GNPTAB | c.2665T>A (p.Leu889Met) c.2584T>A (p.Leu862Met) c.2449T>A (p.Leu817Met) c.1438T>A (p.Leu480Met) | |
| 12 | g.101764253G>A | CA481319185 | GNPTAB | c.2664C>T (p.Tyr888=) c.2583C>T (p.Tyr861=) c.2448C>T (p.Tyr816=) c.1437C>T (p.Tyr479=) | |
| 12 | g.101764253G>C | CA343377 | GNPTAB | c.2664C>G (p.Tyr888Ter) c.2583C>G (p.Tyr861Ter) c.2448C>G (p.Tyr816Ter) c.1437C>G (p.Tyr479Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101764253G= | CA2058955328 | GNPTAB | c.2664C= (p.Tyr888=) c.2583C= (p.Tyr861=) c.2448C= (p.Tyr816=) c.1437C= (p.Tyr479=) | |
| 12 | g.101764253G>T | CA386297543 | GNPTAB | c.2664C>A (p.Tyr888Ter) c.2583C>A (p.Tyr861Ter) c.2448C>A (p.Tyr816Ter) c.1437C>A (p.Tyr479Ter) | |
| 12 | g.101764254T>A | CA386297546 | GNPTAB | c.2663A>T (p.Tyr888Phe) c.2582A>T (p.Tyr861Phe) c.2447A>T (p.Tyr816Phe) c.1436A>T (p.Tyr479Phe) | |
| 12 | g.101764254T>C | CA386297548 | GNPTAB | c.2663A>G (p.Tyr888Cys) c.2582A>G (p.Tyr861Cys) c.2447A>G (p.Tyr816Cys) c.1436A>G (p.Tyr479Cys) | gnomAD v4 |
| 12 | g.101764254T>G | CA386297550 | GNPTAB | c.2663A>C (p.Tyr888Ser) c.2582A>C (p.Tyr861Ser) c.2447A>C (p.Tyr816Ser) c.1436A>C (p.Tyr479Ser) | |
| 12 | g.101764255A>C | CA386297553 | GNPTAB | c.2662T>G (p.Tyr888Asp) c.2581T>G (p.Tyr861Asp) c.2446T>G (p.Tyr816Asp) c.1435T>G (p.Tyr479Asp) | |
| 12 | g.101764255A>G | CA386297554 | GNPTAB | c.2662T>C (p.Tyr888His) c.2581T>C (p.Tyr861His) c.2446T>C (p.Tyr816His) c.1435T>C (p.Tyr479His) | |
| 12 | g.101764255A>T | CA386297556 | GNPTAB | c.2662T>A (p.Tyr888Asn) c.2581T>A (p.Tyr861Asn) c.2446T>A (p.Tyr816Asn) c.1435T>A (p.Tyr479Asn) | gnomAD v4 |
| 12 | g.101764256A>C | CA386297558 | GNPTAB | c.2661T>G (p.Ser887Arg) c.2580T>G (p.Ser860Arg) c.2445T>G (p.Ser815Arg) c.1434T>G (p.Ser478Arg) | |
| 12 | g.101764256A>G | CA481319189 | GNPTAB | c.2661T>C (p.Ser887=) c.2580T>C (p.Ser860=) c.2445T>C (p.Ser815=) c.1434T>C (p.Ser478=) | |
| 12 | g.101764256A>T | CA386297560 | GNPTAB | c.2661T>A (p.Ser887Arg) c.2580T>A (p.Ser860Arg) c.2445T>A (p.Ser815Arg) c.1434T>A (p.Ser478Arg) | |
| 12 | g.101764257C>A | CA386297565 | GNPTAB | c.2660G>T (p.Ser887Ile) c.2579G>T (p.Ser860Ile) c.2444G>T (p.Ser815Ile) c.1433G>T (p.Ser478Ile) | |
| 12 | g.101764257C= | CA2058955329 | GNPTAB | c.2660G= (p.Ser887=) c.2579G= (p.Ser860=) c.2444G= (p.Ser815=) c.1433G= (p.Ser478=) | |
| 12 | g.101764257C>G | CA386297562 | GNPTAB | c.2660G>C (p.Ser887Thr) c.2579G>C (p.Ser860Thr) c.2444G>C (p.Ser815Thr) c.1433G>C (p.Ser478Thr) | |
| 12 | g.101764257C>T | CA386297564 | GNPTAB | c.2660G>A (p.Ser887Asn) c.2579G>A (p.Ser860Asn) c.2444G>A (p.Ser815Asn) c.1433G>A (p.Ser478Asn) | ClinVar dbSNP |
| 12 | g.101764257_101764261del | CA2620445161 | GNPTAB | c.2656_2660del (p.Asp886LeufsTer?) c.2575_2579del (p.Asp859LeufsTer?) c.2440_2444del (p.Asp814LeufsTer?) c.1429_1433del (p.Asp477LeufsTer?) | gnomAD v4 |
| 12 | g.101764259_101764262del | CA2499221386 | GNPTAB | c.2657_2660del (p.Asp886ValfsTer24) c.2576_2579del (p.Asp859ValfsTer24) c.2441_2444del (p.Asp814ValfsTer24) c.1430_1433del (p.Asp477ValfsTer24) | ClinVar dbSNP |
| 12 | g.101764258T>A | CA386297568 | GNPTAB | c.2659A>T (p.Ser887Cys) c.2578A>T (p.Ser860Cys) c.2443A>T (p.Ser815Cys) c.1432A>T (p.Ser478Cys) | |
| 12 | g.101764258T>C | CA386297571 | GNPTAB | c.2659A>G (p.Ser887Gly) c.2578A>G (p.Ser860Gly) c.2443A>G (p.Ser815Gly) c.1432A>G (p.Ser478Gly) | |
| 12 | g.101764258T>G | CA386297573 | GNPTAB | c.2659A>C (p.Ser887Arg) c.2578A>C (p.Ser860Arg) c.2443A>C (p.Ser815Arg) c.1432A>C (p.Ser478Arg) | |
| 12 | g.101764258dup | CA343071 | GNPTAB | c.2659dup (p.Ser887LysfsTer?) c.2578dup (p.Ser860LysfsTer?) c.2443dup (p.Ser815LysfsTer?) c.1432dup (p.Ser478LysfsTer?) | ClinVar dbSNP |
| 12 | g.101764259A>C | CA386297574 | GNPTAB | c.2658T>G (p.Asp886Glu) c.2577T>G (p.Asp859Glu) c.2442T>G (p.Asp814Glu) c.1431T>G (p.Asp477Glu) | |
| 12 | g.101764259A>G | CA481319193 | GNPTAB | c.2658T>C (p.Asp886=) c.2577T>C (p.Asp859=) c.2442T>C (p.Asp814=) c.1431T>C (p.Asp477=) | |
| 12 | g.101764259A>T | CA386297576 | GNPTAB | c.2658T>A (p.Asp886Glu) c.2577T>A (p.Asp859Glu) c.2442T>A (p.Asp814Glu) c.1431T>A (p.Asp477Glu) | |
| 12 | g.101764260T>A | CA386297582 | GNPTAB | c.2657A>T (p.Asp886Val) c.2576A>T (p.Asp859Val) c.2441A>T (p.Asp814Val) c.1430A>T (p.Asp477Val) | ClinVar |
| 12 | g.101764260T>C | CA386297585 | GNPTAB | c.2657A>G (p.Asp886Gly) c.2576A>G (p.Asp859Gly) c.2441A>G (p.Asp814Gly) c.1430A>G (p.Asp477Gly) | dbSNP gnomAD v4 |
| 12 | g.101764260T>G | CA386297588 | GNPTAB | c.2657A>C (p.Asp886Ala) c.2576A>C (p.Asp859Ala) c.2441A>C (p.Asp814Ala) c.1430A>C (p.Asp477Ala) | |
| 12 | g.101764260T= | CA2058955330 | GNPTAB | c.2657A= (p.Asp886=) c.2576A= (p.Asp859=) c.2441A= (p.Asp814=) c.1430A= (p.Asp477=) | |
| 12 | g.101764261C>A | CA386297590 | GNPTAB | c.2656G>T (p.Asp886Tyr) c.2575G>T (p.Asp859Tyr) c.2440G>T (p.Asp814Tyr) c.1429G>T (p.Asp477Tyr) | |
| 12 | g.101764261C>G | CA386297592 | GNPTAB | c.2656G>C (p.Asp886His) c.2575G>C (p.Asp859His) c.2440G>C (p.Asp814His) c.1429G>C (p.Asp477His) | |
| 12 | g.101764261C>T | CA386297594 | GNPTAB | c.2656G>A (p.Asp886Asn) c.2575G>A (p.Asp859Asn) c.2440G>A (p.Asp814Asn) c.1429G>A (p.Asp477Asn) | |
| 12 | g.101764262T>A | CA481319198 | GNPTAB | c.2655A>T (p.Thr885=) c.2574A>T (p.Thr858=) c.2439A>T (p.Thr813=) c.1428A>T (p.Thr476=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101764262T>C | CA6746396 | GNPTAB | c.2655A>G (p.Thr885=) c.2574A>G (p.Thr858=) c.2439A>G (p.Thr813=) c.1428A>G (p.Thr476=) | ClinVar dbSNP ExAC gnomAD v2 |
| 12 | g.101764262T>G | CA481319195 | GNPTAB | c.2655A>C (p.Thr885=) c.2574A>C (p.Thr858=) c.2439A>C (p.Thr813=) c.1428A>C (p.Thr476=) | |
| 12 | g.101764262T= | CA2058955331 | GNPTAB | c.2655A= (p.Thr885=) c.2574A= (p.Thr858=) c.2439A= (p.Thr813=) c.1428A= (p.Thr476=) | |
| 12 | g.101764265_101764266del | CA2580616838 | GNPTAB | c.2654_2655del (p.Thr885ArgfsTer2) c.2573_2574del (p.Thr858ArgfsTer2) c.2438_2439del (p.Thr813ArgfsTer2) c.1427_1428del (p.Thr476ArgfsTer2) | ClinVar dbSNP |
| 12 | g.101764263G>A | CA386297602 | GNPTAB | c.2654C>T (p.Thr885Ile) c.2573C>T (p.Thr858Ile) c.2438C>T (p.Thr813Ile) c.1427C>T (p.Thr476Ile) | gnomAD v4 |
| 12 | g.101764263G>C | CA386297598 | GNPTAB | c.2654C>G (p.Thr885Arg) c.2573C>G (p.Thr858Arg) c.2438C>G (p.Thr813Arg) c.1427C>G (p.Thr476Arg) | dbSNP |
| 12 | g.101764263G= | CA2058955332 | GNPTAB | c.2654C= (p.Thr885=) c.2573C= (p.Thr858=) c.2438C= (p.Thr813=) c.1427C= (p.Thr476=) | |
| 12 | g.101764263G>T | CA386297600 | GNPTAB | c.2654C>A (p.Thr885Lys) c.2573C>A (p.Thr858Lys) c.2438C>A (p.Thr813Lys) c.1427C>A (p.Thr476Lys) | |
| 12 | g.101764264T>A | CA386297604 | GNPTAB | c.2653A>T (p.Thr885Ser) c.2572A>T (p.Thr858Ser) c.2437A>T (p.Thr813Ser) c.1426A>T (p.Thr476Ser) | |
| 12 | g.101764264T>C | CA386297606 | GNPTAB | c.2653A>G (p.Thr885Ala) c.2572A>G (p.Thr858Ala) c.2437A>G (p.Thr813Ala) c.1426A>G (p.Thr476Ala) | |
| 12 | g.101764264T>G | CA386297608 | GNPTAB | c.2653A>C (p.Thr885Pro) c.2572A>C (p.Thr858Pro) c.2437A>C (p.Thr813Pro) c.1426A>C (p.Thr476Pro) | |
| 12 | g.101764265G>A | CA481319203 | GNPTAB | c.2652C>T (p.Tyr884=) c.2571C>T (p.Tyr857=) c.2436C>T (p.Tyr812=) c.1425C>T (p.Tyr475=) | |
| 12 | g.101764265G>C | CA386297610 | GNPTAB | c.2652C>G (p.Tyr884Ter) c.2571C>G (p.Tyr857Ter) c.2436C>G (p.Tyr812Ter) c.1425C>G (p.Tyr475Ter) | |
| 12 | g.101764265G= | CA2058955333 | GNPTAB | c.2652C= (p.Tyr884=) c.2571C= (p.Tyr857=) c.2436C= (p.Tyr812=) c.1425C= (p.Tyr475=) | |
| 12 | g.101764265G>T | CA386297612 | GNPTAB | c.2652C>A (p.Tyr884Ter) c.2571C>A (p.Tyr857Ter) c.2436C>A (p.Tyr812Ter) c.1425C>A (p.Tyr475Ter) | |
| 12 | g.101764266T>A | CA386297618 | GNPTAB | c.2651A>T (p.Tyr884Phe) c.2570A>T (p.Tyr857Phe) c.2435A>T (p.Tyr812Phe) c.1424A>T (p.Tyr475Phe) | |
| 12 | g.101764266T>C | CA386297614 | GNPTAB | c.2651A>G (p.Tyr884Cys) c.2570A>G (p.Tyr857Cys) c.2435A>G (p.Tyr812Cys) c.1424A>G (p.Tyr475Cys) | |
| 12 | g.101764266T>G | CA386297616 | GNPTAB | c.2651A>C (p.Tyr884Ser) c.2570A>C (p.Tyr857Ser) c.2435A>C (p.Tyr812Ser) c.1424A>C (p.Tyr475Ser) | |
| 12 | g.101764266dup | CA2058955334 | GNPTAB | c.2651dup (p.Tyr884Ter) c.2570dup (p.Tyr857Ter) c.2435dup (p.Tyr812Ter) c.1424dup (p.Tyr475Ter) | dbSNP |
| 12 | g.101764267A= | CA2058955335 | GNPTAB | c.2650T= (p.Tyr884=) c.2569T= (p.Tyr857=) c.2434T= (p.Tyr812=) c.1423T= (p.Tyr475=) | |
| 12 | g.101764267A>C | CA242456067 | GNPTAB | c.2650T>G (p.Tyr884Asp) c.2569T>G (p.Tyr857Asp) c.2434T>G (p.Tyr812Asp) c.1423T>G (p.Tyr475Asp) | dbSNP |
| 12 | g.101764267A>G | CA6746397 | GNPTAB | c.2650T>C (p.Tyr884His) c.2569T>C (p.Tyr857His) c.2434T>C (p.Tyr812His) c.1423T>C (p.Tyr475His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764267A>T | CA386297621 | GNPTAB | c.2650T>A (p.Tyr884Asn) c.2569T>A (p.Tyr857Asn) c.2434T>A (p.Tyr812Asn) c.1423T>A (p.Tyr475Asn) | |
| 12 | g.101764268A>C | CA386297623 | GNPTAB | c.2649T>G (p.His883Gln) c.2568T>G (p.His856Gln) c.2433T>G (p.His811Gln) c.1422T>G (p.His474Gln) | |
| 12 | g.101764268A>G | CA481319209 | GNPTAB | c.2649T>C (p.His883=) c.2568T>C (p.His856=) c.2433T>C (p.His811=) c.1422T>C (p.His474=) | |
| 12 | g.101764268A>T | CA386297625 | GNPTAB | c.2649T>A (p.His883Gln) c.2568T>A (p.His856Gln) c.2433T>A (p.His811Gln) c.1422T>A (p.His474Gln) | |
| 12 | g.101764269T>A | CA386297628 | GNPTAB | c.2648A>T (p.His883Leu) c.2567A>T (p.His856Leu) c.2432A>T (p.His811Leu) c.1421A>T (p.His474Leu) | gnomAD v4 |
| 12 | g.101764269T>C | CA386297631 | GNPTAB | c.2648A>G (p.His883Arg) c.2567A>G (p.His856Arg) c.2432A>G (p.His811Arg) c.1421A>G (p.His474Arg) | gnomAD v4 |
| 12 | g.101764269T>G | CA386297630 | GNPTAB | c.2648A>C (p.His883Pro) c.2567A>C (p.His856Pro) c.2432A>C (p.His811Pro) c.1421A>C (p.His474Pro) | |
| 12 | g.101764270G>A | CA386297633 | GNPTAB | c.2647C>T (p.His883Tyr) c.2566C>T (p.His856Tyr) c.2431C>T (p.His811Tyr) c.1420C>T (p.His474Tyr) | |
| 12 | g.101764270G>C | CA6746398 | GNPTAB | c.2647C>G (p.His883Asp) c.2566C>G (p.His856Asp) c.2431C>G (p.His811Asp) c.1420C>G (p.His474Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101764270G= | CA2058955336 | GNPTAB | c.2647C= (p.His883=) c.2566C= (p.His856=) c.2431C= (p.His811=) c.1420C= (p.His474=) | |
| 12 | g.101764270G>T | CA386297636 | GNPTAB | c.2647C>A (p.His883Asn) c.2566C>A (p.His856Asn) c.2431C>A (p.His811Asn) c.1420C>A (p.His474Asn) | |
| 12 | g.101764271C>A | CA386297638 | GNPTAB | c.2646G>T (p.Gln882His) c.2565G>T (p.Gln855His) c.2430G>T (p.Gln810His) c.1419G>T (p.Gln473His) | |
| 12 | g.101764271C>G | CA386297639 | GNPTAB | c.2646G>C (p.Gln882His) c.2565G>C (p.Gln855His) c.2430G>C (p.Gln810His) c.1419G>C (p.Gln473His) | |
| 12 | g.101764271C>T | CA481319216 | GNPTAB | c.2646G>A (p.Gln882=) c.2565G>A (p.Gln855=) c.2430G>A (p.Gln810=) c.1419G>A (p.Gln473=) | |
| 12 | g.101764272T>A | CA386297641 | GNPTAB | c.2645A>T (p.Gln882Leu) c.2564A>T (p.Gln855Leu) c.2429A>T (p.Gln810Leu) c.1418A>T (p.Gln473Leu) | |
| 12 | g.101764272T>C | CA386297643 | GNPTAB | c.2645A>G (p.Gln882Arg) c.2564A>G (p.Gln855Arg) c.2429A>G (p.Gln810Arg) c.1418A>G (p.Gln473Arg) | gnomAD v4 |
| 12 | g.101764272T>G | CA386297645 | GNPTAB | c.2645A>C (p.Gln882Pro) c.2564A>C (p.Gln855Pro) c.2429A>C (p.Gln810Pro) c.1418A>C (p.Gln473Pro) | |
| 12 | g.101764273G>A | CA386297647 | GNPTAB | c.2644C>T (p.Gln882Ter) c.2563C>T (p.Gln855Ter) c.2428C>T (p.Gln810Ter) c.1417C>T (p.Gln473Ter) | |
| 12 | g.101764273G>C | CA386297649 | GNPTAB | c.2644C>G (p.Gln882Glu) c.2563C>G (p.Gln855Glu) c.2428C>G (p.Gln810Glu) c.1417C>G (p.Gln473Glu) | |
| 12 | g.101764273G>T | CA386297651 | GNPTAB | c.2644C>A (p.Gln882Lys) c.2563C>A (p.Gln855Lys) c.2428C>A (p.Gln810Lys) c.1417C>A (p.Gln473Lys) | |
| 12 | g.101764274C>A | CA481319220 | GNPTAB | c.2643G>T (p.Leu881=) c.2562G>T (p.Leu854=) c.2427G>T (p.Leu809=) c.1416G>T (p.Leu472=) | |
| 12 | g.101764274C>G | CA481319222 | GNPTAB | c.2643G>C (p.Leu881=) c.2562G>C (p.Leu854=) c.2427G>C (p.Leu809=) c.1416G>C (p.Leu472=) | |
| 12 | g.101764274C>T | CA481319224 | GNPTAB | c.2643G>A (p.Leu881=) c.2562G>A (p.Leu854=) c.2427G>A (p.Leu809=) c.1416G>A (p.Leu472=) | gnomAD v4 |
| 12 | g.101764275A>C | CA386297659 | GNPTAB | c.2642T>G (p.Leu881Arg) c.2561T>G (p.Leu854Arg) c.2426T>G (p.Leu809Arg) c.1415T>G (p.Leu472Arg) | |
| 12 | g.101764275A>G | CA386297654 | GNPTAB | c.2642T>C (p.Leu881Pro) c.2561T>C (p.Leu854Pro) c.2426T>C (p.Leu809Pro) c.1415T>C (p.Leu472Pro) | |
| 12 | g.101764275A>T | CA386297657 | GNPTAB | c.2642T>A (p.Leu881Gln) c.2561T>A (p.Leu854Gln) c.2426T>A (p.Leu809Gln) c.1415T>A (p.Leu472Gln) | |
| 12 | g.101764276G>A | CA481319225 | GNPTAB | c.2641C>T (p.Leu881=) c.2560C>T (p.Leu854=) c.2425C>T (p.Leu809=) c.1414C>T (p.Leu472=) | |
| 12 | g.101764276G>C | CA386297661 | GNPTAB | c.2641C>G (p.Leu881Val) c.2560C>G (p.Leu854Val) c.2425C>G (p.Leu809Val) c.1414C>G (p.Leu472Val) | |
| 12 | g.101764276G>T | CA386297663 | GNPTAB | c.2641C>A (p.Leu881Met) c.2560C>A (p.Leu854Met) c.2425C>A (p.Leu809Met) c.1414C>A (p.Leu472Met) | |
| 12 | g.101764277C>A | CA386297665 | GNPTAB | c.2640G>T (p.Lys880Asn) c.2559G>T (p.Lys853Asn) c.2424G>T (p.Lys808Asn) c.1413G>T (p.Lys471Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101764277C= | CA2058955337 | GNPTAB | c.2640G= (p.Lys880=) c.2559G= (p.Lys853=) c.2424G= (p.Lys808=) c.1413G= (p.Lys471=) | |
| 12 | g.101764277C>G | CA386297667 | GNPTAB | c.2640G>C (p.Lys880Asn) c.2559G>C (p.Lys853Asn) c.2424G>C (p.Lys808Asn) c.1413G>C (p.Lys471Asn) | |
| 12 | g.101764277C>T | CA481319226 | GNPTAB | c.2640G>A (p.Lys880=) c.2559G>A (p.Lys853=) c.2424G>A (p.Lys808=) c.1413G>A (p.Lys471=) | |
| 12 | g.101764278T>A | CA386297670 | GNPTAB | c.2639A>T (p.Lys880Met) c.2558A>T (p.Lys853Met) c.2423A>T (p.Lys808Met) c.1412A>T (p.Lys471Met) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101764278T>C | CA386297672 | GNPTAB | c.2639A>G (p.Lys880Arg) c.2558A>G (p.Lys853Arg) c.2423A>G (p.Lys808Arg) c.1412A>G (p.Lys471Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101764278T>G | CA386297674 | GNPTAB | c.2639A>C (p.Lys880Thr) c.2558A>C (p.Lys853Thr) c.2423A>C (p.Lys808Thr) c.1412A>C (p.Lys471Thr) | |
| 12 | g.101764278T= | CA2058955338 | GNPTAB | c.2639A= (p.Lys880=) c.2558A= (p.Lys853=) c.2423A= (p.Lys808=) c.1412A= (p.Lys471=) | |
| 12 | g.101764279T>A | CA386297676 | GNPTAB | c.2638A>T (p.Lys880Ter) c.2557A>T (p.Lys853Ter) c.2422A>T (p.Lys808Ter) c.1411A>T (p.Lys471Ter) | |
| 12 | g.101764279T>C | CA386297678 | GNPTAB | c.2638A>G (p.Lys880Glu) c.2557A>G (p.Lys853Glu) c.2422A>G (p.Lys808Glu) c.1411A>G (p.Lys471Glu) | |
| 12 | g.101764279T>G | CA386297679 | GNPTAB | c.2638A>C (p.Lys880Gln) c.2557A>C (p.Lys853Gln) c.2422A>C (p.Lys808Gln) c.1411A>C (p.Lys471Gln) | |
| 12 | g.101764280T>A | CA386297681 | GNPTAB | c.2637A>T (p.Arg879Ser) c.2556A>T (p.Arg852Ser) c.2421A>T (p.Arg807Ser) c.1410A>T (p.Arg470Ser) | |
| 12 | g.101764280T>C | CA481319228 | GNPTAB | c.2637A>G (p.Arg879=) c.2556A>G (p.Arg852=) c.2421A>G (p.Arg807=) c.1410A>G (p.Arg470=) | |
| 12 | g.101764280T>G | CA386297683 | GNPTAB | c.2637A>C (p.Arg879Ser) c.2556A>C (p.Arg852Ser) c.2421A>C (p.Arg807Ser) c.1410A>C (p.Arg470Ser) | |
| 12 | g.101764281C>A | CA386297685 | GNPTAB | c.2636G>T (p.Arg879Ile) c.2555G>T (p.Arg852Ile) c.2420G>T (p.Arg807Ile) c.1409G>T (p.Arg470Ile) | |
| 12 | g.101764281C>G | CA386297687 | GNPTAB | c.2636G>C (p.Arg879Thr) c.2555G>C (p.Arg852Thr) c.2420G>C (p.Arg807Thr) c.1409G>C (p.Arg470Thr) | |
| 12 | g.101764281C>T | CA386297689 | GNPTAB | c.2636G>A (p.Arg879Lys) c.2555G>A (p.Arg852Lys) c.2420G>A (p.Arg807Lys) c.1409G>A (p.Arg470Lys) | |
| 12 | g.101764282T>A | CA386297693 | GNPTAB | c.2635A>T (p.Arg879Ter) c.2554A>T (p.Arg852Ter) c.2419A>T (p.Arg807Ter) c.1408A>T (p.Arg470Ter) | |
| 12 | g.101764282T>C | CA386297692 | GNPTAB | c.2635A>G (p.Arg879Gly) c.2554A>G (p.Arg852Gly) c.2419A>G (p.Arg807Gly) c.1408A>G (p.Arg470Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101764282T>G | CA481319229 | GNPTAB | c.2635A>C (p.Arg879=) c.2554A>C (p.Arg852=) c.2419A>C (p.Arg807=) c.1408A>C (p.Arg470=) | |
| 12 | g.101764282T= | CA2058955339 | GNPTAB | c.2635A= (p.Arg879=) c.2554A= (p.Arg852=) c.2419A= (p.Arg807=) c.1408A= (p.Arg470=) | |
| 12 | g.101764283T>A | CA481319230 | GNPTAB | c.2634A>T (p.Gly878=) c.2553A>T (p.Gly851=) c.2418A>T (p.Gly806=) c.1407A>T (p.Gly469=) | |
| 12 | g.101764283T>C | CA481319235 | GNPTAB | c.2634A>G (p.Gly878=) c.2553A>G (p.Gly851=) c.2418A>G (p.Gly806=) c.1407A>G (p.Gly469=) | |
| 12 | g.101764283T>G | CA481319232 | GNPTAB | c.2634A>C (p.Gly878=) c.2553A>C (p.Gly851=) c.2418A>C (p.Gly806=) c.1407A>C (p.Gly469=) | |
| 12 | g.101764284C>A | CA386297695 | GNPTAB | c.2633G>T (p.Gly878Val) c.2552G>T (p.Gly851Val) c.2417G>T (p.Gly806Val) c.1406G>T (p.Gly469Val) | |
| 12 | g.101764284C>G | CA386297697 | GNPTAB | c.2633G>C (p.Gly878Ala) c.2552G>C (p.Gly851Ala) c.2417G>C (p.Gly806Ala) c.1406G>C (p.Gly469Ala) | |
| 12 | g.101764284C>T | CA386297699 | GNPTAB | c.2633G>A (p.Gly878Glu) c.2552G>A (p.Gly851Glu) c.2417G>A (p.Gly806Glu) c.1406G>A (p.Gly469Glu) | |
| 12 | g.101764285C>A | CA386297702 | GNPTAB | c.2632G>T (p.Gly878Ter) c.2551G>T (p.Gly851Ter) c.2416G>T (p.Gly806Ter) c.1405G>T (p.Gly469Ter) | |
| 12 | g.101764285C>G | CA386297704 | GNPTAB | c.2632G>C (p.Gly878Arg) c.2551G>C (p.Gly851Arg) c.2416G>C (p.Gly806Arg) c.1405G>C (p.Gly469Arg) | |
| 12 | g.101764285C>T | CA386297705 | GNPTAB | c.2632G>A (p.Gly878Arg) c.2551G>A (p.Gly851Arg) c.2416G>A (p.Gly806Arg) c.1405G>A (p.Gly469Arg) | |
| 12 | g.101764286A>C | CA481319242 | GNPTAB | c.2631T>G (p.Leu877=) c.2550T>G (p.Leu850=) c.2415T>G (p.Leu805=) c.1404T>G (p.Leu468=) | |
| 12 | g.101764286A>G | CA481319244 | GNPTAB | c.2631T>C (p.Leu877=) c.2550T>C (p.Leu850=) c.2415T>C (p.Leu805=) c.1404T>C (p.Leu468=) | |
| 12 | g.101764286A>T | CA481319245 | GNPTAB | c.2631T>A (p.Leu877=) c.2550T>A (p.Leu850=) c.2415T>A (p.Leu805=) c.1404T>A (p.Leu468=) | |
| 12 | g.101764287A>C | CA386297714 | GNPTAB | c.2630T>G (p.Leu877Arg) c.2549T>G (p.Leu850Arg) c.2414T>G (p.Leu805Arg) c.1403T>G (p.Leu468Arg) | |
| 12 | g.101764287A>G | CA386297709 | GNPTAB | c.2630T>C (p.Leu877Pro) c.2549T>C (p.Leu850Pro) c.2414T>C (p.Leu805Pro) c.1403T>C (p.Leu468Pro) | |
| 12 | g.101764287A>T | CA386297711 | GNPTAB | c.2630T>A (p.Leu877His) c.2549T>A (p.Leu850His) c.2414T>A (p.Leu805His) c.1403T>A (p.Leu468His) | |
| 12 | g.101764288G>A | CA386297717 | GNPTAB | c.2629C>T (p.Leu877Phe) c.2548C>T (p.Leu850Phe) c.2413C>T (p.Leu805Phe) c.1402C>T (p.Leu468Phe) | dbSNP gnomAD v4 |
| 12 | g.101764288G>C | CA386297719 | GNPTAB | c.2629C>G (p.Leu877Val) c.2548C>G (p.Leu850Val) c.2413C>G (p.Leu805Val) c.1402C>G (p.Leu468Val) | |
| 12 | g.101764288G= | CA2058955340 | GNPTAB | c.2629C= (p.Leu877=) c.2548C= (p.Leu850=) c.2413C= (p.Leu805=) c.1402C= (p.Leu468=) | |
| 12 | g.101764288G>T | CA386297721 | GNPTAB | c.2629C>A (p.Leu877Ile) c.2548C>A (p.Leu850Ile) c.2413C>A (p.Leu805Ile) c.1402C>A (p.Leu468Ile) | |
| 12 | g.101764289T>A | CA386297722 | GNPTAB | c.2628A>T (p.Leu876Phe) c.2547A>T (p.Leu849Phe) c.2412A>T (p.Leu804Phe) c.1401A>T (p.Leu467Phe) | |
| 12 | g.101764289T>C | CA481319247 | GNPTAB | c.2628A>G (p.Leu876=) c.2547A>G (p.Leu849=) c.2412A>G (p.Leu804=) c.1401A>G (p.Leu467=) | |
| 12 | g.101764289T>G | CA386297723 | GNPTAB | c.2628A>C (p.Leu876Phe) c.2547A>C (p.Leu849Phe) c.2412A>C (p.Leu804Phe) c.1401A>C (p.Leu467Phe) | |
| 12 | g.101764290A>C | CA386297727 | GNPTAB | c.2627T>G (p.Leu876Ter) c.2546T>G (p.Leu849Ter) c.2411T>G (p.Leu804Ter) c.1400T>G (p.Leu467Ter) | |
| 12 | g.101764290A>G | CA386297730 | GNPTAB | c.2627T>C (p.Leu876Ser) c.2546T>C (p.Leu849Ser) c.2411T>C (p.Leu804Ser) c.1400T>C (p.Leu467Ser) | |
| 12 | g.101764290A>T | CA386297728 | GNPTAB | c.2627T>A (p.Leu876Ter) c.2546T>A (p.Leu849Ter) c.2411T>A (p.Leu804Ter) c.1400T>A (p.Leu467Ter) | |
| 12 | g.101764291A>C | CA386297731 | GNPTAB | c.2626T>G (p.Leu876Val) c.2545T>G (p.Leu849Val) c.2410T>G (p.Leu804Val) c.1399T>G (p.Leu467Val) | |
| 12 | g.101764291A>G | CA481319253 | GNPTAB | c.2626T>C (p.Leu876=) c.2545T>C (p.Leu849=) c.2410T>C (p.Leu804=) c.1399T>C (p.Leu467=) | |
| 12 | g.101764291A>T | CA386297733 | GNPTAB | c.2626T>A (p.Leu876Ile) c.2545T>A (p.Leu849Ile) c.2410T>A (p.Leu804Ile) c.1399T>A (p.Leu467Ile) | |
| 12 | g.101764292C>A | CA481319254 | GNPTAB | c.2625G>T (p.Val875=) c.2544G>T (p.Val848=) c.2409G>T (p.Val803=) c.1398G>T (p.Val466=) | |
| 12 | g.101764292C= | CA2058955341 | GNPTAB | c.2625G= (p.Val875=) c.2544G= (p.Val848=) c.2409G= (p.Val803=) c.1398G= (p.Val466=) | |
| 12 | g.101764292C>G | CA481319256 | GNPTAB | c.2625G>C (p.Val875=) c.2544G>C (p.Val848=) c.2409G>C (p.Val803=) c.1398G>C (p.Val466=) | |
| 12 | g.101764292C>T | CA6746399 | GNPTAB | c.2625G>A (p.Val875=) c.2544G>A (p.Val848=) c.2409G>A (p.Val803=) c.1398G>A (p.Val466=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764293A>C | CA386297736 | GNPTAB | c.2624T>G (p.Val875Gly) c.2543T>G (p.Val848Gly) c.2408T>G (p.Val803Gly) c.1397T>G (p.Val466Gly) | |
| 12 | g.101764293A>G | CA386297738 | GNPTAB | c.2624T>C (p.Val875Ala) c.2543T>C (p.Val848Ala) c.2408T>C (p.Val803Ala) c.1397T>C (p.Val466Ala) | |
| 12 | g.101764293A>T | CA386297739 | GNPTAB | c.2624T>A (p.Val875Glu) c.2543T>A (p.Val848Glu) c.2408T>A (p.Val803Glu) c.1397T>A (p.Val466Glu) | |
| 12 | g.101764294C>A | CA386297745 | GNPTAB | c.2623G>T (p.Val875Leu) c.2542G>T (p.Val848Leu) c.2407G>T (p.Val803Leu) c.1396G>T (p.Val466Leu) | |
| 12 | g.101764294C= | CA2058955342 | GNPTAB | c.2623G= (p.Val875=) c.2542G= (p.Val848=) c.2407G= (p.Val803=) c.1396G= (p.Val466=) | |
| 12 | g.101764294C>G | CA386297741 | GNPTAB | c.2623G>C (p.Val875Leu) c.2542G>C (p.Val848Leu) c.2407G>C (p.Val803Leu) c.1396G>C (p.Val466Leu) | |
| 12 | g.101764294C>T | CA386297743 | GNPTAB | c.2623G>A (p.Val875Met) c.2542G>A (p.Val848Met) c.2407G>A (p.Val803Met) c.1396G>A (p.Val466Met) | dbSNP gnomAD v4 |
| 12 | g.101764295T>A | CA386297747 | GNPTAB | c.2622A>T (p.Glu874Asp) c.2541A>T (p.Glu847Asp) c.2406A>T (p.Glu802Asp) c.1395A>T (p.Glu465Asp) | |
| 12 | g.101764295T>C | CA481319258 | GNPTAB | c.2622A>G (p.Glu874=) c.2541A>G (p.Glu847=) c.2406A>G (p.Glu802=) c.1395A>G (p.Glu465=) | |
| 12 | g.101764295T>G | CA386297752 | GNPTAB | c.2622A>C (p.Glu874Asp) c.2541A>C (p.Glu847Asp) c.2406A>C (p.Glu802Asp) c.1395A>C (p.Glu465Asp) | |
| 12 | g.101764296T>A | CA386297754 | GNPTAB | c.2621A>T (p.Glu874Val) c.2540A>T (p.Glu847Val) c.2405A>T (p.Glu802Val) c.1394A>T (p.Glu465Val) | |
| 12 | g.101764296T>C | CA386297757 | GNPTAB | c.2621A>G (p.Glu874Gly) c.2540A>G (p.Glu847Gly) c.2405A>G (p.Glu802Gly) c.1394A>G (p.Glu465Gly) | |
| 12 | g.101764296T>G | CA386297759 | GNPTAB | c.2621A>C (p.Glu874Ala) c.2540A>C (p.Glu847Ala) c.2405A>C (p.Glu802Ala) c.1394A>C (p.Glu465Ala) | |
| 12 | g.101764297C>A | CA6746400 | GNPTAB | c.2620G>T (p.Glu874Ter) c.2539G>T (p.Glu847Ter) c.2404G>T (p.Glu802Ter) c.1393G>T (p.Glu465Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101764297C= | CA2058955343 | GNPTAB | c.2620G= (p.Glu874=) c.2539G= (p.Glu847=) c.2404G= (p.Glu802=) c.1393G= (p.Glu465=) | |
| 12 | g.101764297C>G | CA386297764 | GNPTAB | c.2620G>C (p.Glu874Gln) c.2539G>C (p.Glu847Gln) c.2404G>C (p.Glu802Gln) c.1393G>C (p.Glu465Gln) | gnomAD v4 |
| 12 | g.101764297C>T | CA386297762 | GNPTAB | c.2620G>A (p.Glu874Lys) c.2539G>A (p.Glu847Lys) c.2404G>A (p.Glu802Lys) c.1393G>A (p.Glu465Lys) | |
| 12 | g.101764298A= | CA2058955344 | GNPTAB | c.2619T= (p.Thr873=) c.2538T= (p.Thr846=) c.2403T= (p.Thr801=) c.1392T= (p.Thr464=) | |
| 12 | g.101764298A>C | CA481319261 | GNPTAB | c.2619T>G (p.Thr873=) c.2538T>G (p.Thr846=) c.2403T>G (p.Thr801=) c.1392T>G (p.Thr464=) | |
| 12 | g.101764298A>G | CA481319263 | GNPTAB | c.2619T>C (p.Thr873=) c.2538T>C (p.Thr846=) c.2403T>C (p.Thr801=) c.1392T>C (p.Thr464=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101764298A>T | CA481319265 | GNPTAB | c.2619T>A (p.Thr873=) c.2538T>A (p.Thr846=) c.2403T>A (p.Thr801=) c.1392T>A (p.Thr464=) | |
| 12 | g.101764299G>A | CA386297766 | GNPTAB | c.2618C>T (p.Thr873Ile) c.2537C>T (p.Thr846Ile) c.2402C>T (p.Thr801Ile) c.1391C>T (p.Thr464Ile) | ClinVar dbSNP |
| 12 | g.101764299G>C | CA386297767 | GNPTAB | c.2618C>G (p.Thr873Ser) c.2537C>G (p.Thr846Ser) c.2402C>G (p.Thr801Ser) c.1391C>G (p.Thr464Ser) | |
| 12 | g.101764299G= | CA2058955345 | GNPTAB | c.2618C= (p.Thr873=) c.2537C= (p.Thr846=) c.2402C= (p.Thr801=) c.1391C= (p.Thr464=) | |
| 12 | g.101764299G>T | CA386297769 | GNPTAB | c.2618C>A (p.Thr873Asn) c.2537C>A (p.Thr846Asn) c.2402C>A (p.Thr801Asn) c.1391C>A (p.Thr464Asn) | |
| 12 | g.101764299dup | CA912973317 | GNPTAB | c.2618dup (p.Glu874Ter) c.2537dup (p.Glu847Ter) c.2402dup (p.Glu802Ter) c.1391dup (p.Glu465Ter) | |
| 12 | g.101764300T>A | CA386297773 | GNPTAB | c.2617A>T (p.Thr873Ser) c.2536A>T (p.Thr846Ser) c.2401A>T (p.Thr801Ser) c.1390A>T (p.Thr464Ser) | |
| 12 | g.101764300T>C | CA386297775 | GNPTAB | c.2617A>G (p.Thr873Ala) c.2536A>G (p.Thr846Ala) c.2401A>G (p.Thr801Ala) c.1390A>G (p.Thr464Ala) | gnomAD v4 |
| 12 | g.101764300T>G | CA386297776 | GNPTAB | c.2617A>C (p.Thr873Pro) c.2536A>C (p.Thr846Pro) c.2401A>C (p.Thr801Pro) c.1390A>C (p.Thr464Pro) | |
| 12 | g.101764300dup | CA6746401 | GNPTAB | c.2617dup (p.Thr873AsnfsTer2) c.2536dup (p.Thr846AsnfsTer2) c.2401dup (p.Thr801AsnfsTer2) c.1390dup (p.Thr464AsnfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101764301A= | CA2058955346 | GNPTAB | c.2616T= (p.Val872=) c.2535T= (p.Val845=) c.2400T= (p.Val800=) c.1389T= (p.Val463=) | |
| 12 | g.101764301A>C | CA481319268 | GNPTAB | c.2616T>G (p.Val872=) c.2535T>G (p.Val845=) c.2400T>G (p.Val800=) c.1389T>G (p.Val463=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101764301A>G | CA481319269 | GNPTAB | c.2616T>C (p.Val872=) c.2535T>C (p.Val845=) c.2400T>C (p.Val800=) c.1389T>C (p.Val463=) | |
| 12 | g.101764301A>T | CA481319270 | GNPTAB | c.2616T>A (p.Val872=) c.2535T>A (p.Val845=) c.2400T>A (p.Val800=) c.1389T>A (p.Val463=) | |
| 12 | g.101764302A>C | CA386297778 | GNPTAB | c.2615T>G (p.Val872Gly) c.2534T>G (p.Val845Gly) c.2399T>G (p.Val800Gly) c.1388T>G (p.Val463Gly) | |
| 12 | g.101764302A>G | CA386297779 | GNPTAB | c.2615T>C (p.Val872Ala) c.2534T>C (p.Val845Ala) c.2399T>C (p.Val800Ala) c.1388T>C (p.Val463Ala) | |
| 12 | g.101764302A>T | CA386297781 | GNPTAB | c.2615T>A (p.Val872Asp) c.2534T>A (p.Val845Asp) c.2399T>A (p.Val800Asp) c.1388T>A (p.Val463Asp) | |
| 12 | g.101764302_101764303delinsAC | CA2058955347 | GNPTAB | c.2614_2615delinsGT (p.Val872=) c.2533_2534delinsGT (p.Val845=) c.2398_2399delinsGT (p.Val800=) c.1387_1388delinsGT (p.Val463=) | |
| 12 | g.101764302_101764305dup | CA2620445235 | GNPTAB | c.2612_2615dup (p.Thr873ArgfsTer3) c.2531_2534dup (p.Thr846ArgfsTer3) c.2396_2399dup (p.Thr801ArgfsTer3) c.1385_1388dup (p.Thr464ArgfsTer3) | gnomAD v4 |
| 12 | g.101764303del | CA16609429 | GNPTAB | c.2614del (p.Val872LeufsTer?) c.2533del (p.Val845LeufsTer?) c.2398del (p.Val800LeufsTer?) c.1387del (p.Val463LeufsTer?) | ClinVar dbSNP |
| 12 | g.101764303C>A | CA386297786 | GNPTAB | c.2614G>T (p.Val872Phe) c.2533G>T (p.Val845Phe) c.2398G>T (p.Val800Phe) c.1387G>T (p.Val463Phe) | |
| 12 | g.101764303C= | CA2058955348 | GNPTAB | c.2614G= (p.Val872=) c.2533G= (p.Val845=) c.2398G= (p.Val800=) c.1387G= (p.Val463=) | |
| 12 | g.101764303C>G | CA386297783 | GNPTAB | c.2614G>C (p.Val872Leu) c.2533G>C (p.Val845Leu) c.2398G>C (p.Val800Leu) c.1387G>C (p.Val463Leu) | |
| 12 | g.101764303C>T | CA6746402 | GNPTAB | c.2614G>A (p.Val872Ile) c.2533G>A (p.Val845Ile) c.2398G>A (p.Val800Ile) c.1387G>A (p.Val463Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.101764304G>A | CA6746403 | GNPTAB | c.2613C>T (p.Gly871=) c.2532C>T (p.Gly844=) c.2397C>T (p.Gly799=) c.1386C>T (p.Gly462=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.101764304G>C | CA6746404 | GNPTAB | c.2613C>G (p.Gly871=) c.2532C>G (p.Gly844=) c.2397C>G (p.Gly799=) c.1386C>G (p.Gly462=) | dbSNP ExAC gnomAD v2 |
| 12 | g.101764304G= | CA2058955349 | GNPTAB | c.2613C= (p.Gly871=) c.2532C= (p.Gly844=) c.2397C= (p.Gly799=) c.1386C= (p.Gly462=) | |
| 12 | g.101764304G>T | CA481319272 | GNPTAB | c.2613C>A (p.Gly871=) c.2532C>A (p.Gly844=) c.2397C>A (p.Gly799=) c.1386C>A (p.Gly462=) | |
| 12 | g.101764305C>A | CA386297791 | GNPTAB | c.2612G>T (p.Gly871Val) c.2531G>T (p.Gly844Val) c.2396G>T (p.Gly799Val) c.1385G>T (p.Gly462Val) | |
| 12 | g.101764305C>G | CA386297793 | GNPTAB | c.2612G>C (p.Gly871Ala) c.2531G>C (p.Gly844Ala) c.2396G>C (p.Gly799Ala) c.1385G>C (p.Gly462Ala) | |
| 12 | g.101764305C>T | CA386297792 | GNPTAB | c.2612G>A (p.Gly871Asp) c.2531G>A (p.Gly844Asp) c.2396G>A (p.Gly799Asp) c.1385G>A (p.Gly462Asp) | |
| 12 | g.101764306C>A | CA386297795 | GNPTAB | c.2611G>T (p.Gly871Cys) c.2530G>T (p.Gly844Cys) c.2395G>T (p.Gly799Cys) c.1384G>T (p.Gly462Cys) | |
| 12 | g.101764306C= | CA2058955350 | GNPTAB | c.2611G= (p.Gly871=) c.2530G= (p.Gly844=) c.2395G= (p.Gly799=) c.1384G= (p.Gly462=) | |
| 12 | g.101764306C>G | CA386297797 | GNPTAB | c.2611G>C (p.Gly871Arg) c.2530G>C (p.Gly844Arg) c.2395G>C (p.Gly799Arg) c.1384G>C (p.Gly462Arg) | |
| 12 | g.101764306C>T | CA180091 | GNPTAB | c.2611G>A (p.Gly871Ser) c.2530G>A (p.Gly844Ser) c.2395G>A (p.Gly799Ser) c.1384G>A (p.Gly462Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764307T>A | CA481319274 | GNPTAB | c.2610A>T (p.Ile870=) c.2529A>T (p.Ile843=) c.2394A>T (p.Ile798=) c.1383A>T (p.Ile461=) | |
| 12 | g.101764307T>C | CA386297800 | GNPTAB | c.2610A>G (p.Ile870Met) c.2529A>G (p.Ile843Met) c.2394A>G (p.Ile798Met) c.1383A>G (p.Ile461Met) | |
| 12 | g.101764307T>G | CA481319275 | GNPTAB | c.2610A>C (p.Ile870=) c.2529A>C (p.Ile843=) c.2394A>C (p.Ile798=) c.1383A>C (p.Ile461=) | |
| 12 | g.101764308A>C | CA386297803 | GNPTAB | c.2609T>G (p.Ile870Arg) c.2528T>G (p.Ile843Arg) c.2393T>G (p.Ile798Arg) c.1382T>G (p.Ile461Arg) | |
| 12 | g.101764308A>G | CA386297805 | GNPTAB | c.2609T>C (p.Ile870Thr) c.2528T>C (p.Ile843Thr) c.2393T>C (p.Ile798Thr) c.1382T>C (p.Ile461Thr) | |
| 12 | g.101764308A>T | CA386297806 | GNPTAB | c.2609T>A (p.Ile870Lys) c.2528T>A (p.Ile843Lys) c.2393T>A (p.Ile798Lys) c.1382T>A (p.Ile461Lys) | |
| 12 | g.101764309T>A | CA386297809 | GNPTAB | c.2608A>T (p.Ile870Leu) c.2527A>T (p.Ile843Leu) c.2392A>T (p.Ile798Leu) c.1381A>T (p.Ile461Leu) | |
| 12 | g.101764309T>C | CA386297811 | GNPTAB | c.2608A>G (p.Ile870Val) c.2527A>G (p.Ile843Val) c.2392A>G (p.Ile798Val) c.1381A>G (p.Ile461Val) | gnomAD v4 |
| 12 | g.101764309T>G | CA386297812 | GNPTAB | c.2608A>C (p.Ile870Leu) c.2527A>C (p.Ile843Leu) c.2392A>C (p.Ile798Leu) c.1381A>C (p.Ile461Leu) | |
| 12 | g.101764310G>A | CA481319277 | GNPTAB | c.2607C>T (p.His869=) c.2526C>T (p.His842=) c.2391C>T (p.His797=) c.1380C>T (p.His460=) | gnomAD v4 |
| 12 | g.101764310G>C | CA386297815 | GNPTAB | c.2607C>G (p.His869Gln) c.2526C>G (p.His842Gln) c.2391C>G (p.His797Gln) c.1380C>G (p.His460Gln) | |
| 12 | g.101764310G>T | CA386297817 | GNPTAB | c.2607C>A (p.His869Gln) c.2526C>A (p.His842Gln) c.2391C>A (p.His797Gln) c.1380C>A (p.His460Gln) | |
| 12 | g.101764311T>A | CA386297822 | GNPTAB | c.2606A>T (p.His869Leu) c.2525A>T (p.His842Leu) c.2390A>T (p.His797Leu) c.1379A>T (p.His460Leu) | |
| 12 | g.101764311T>C | CA6746405 | GNPTAB | c.2606A>G (p.His869Arg) c.2525A>G (p.His842Arg) c.2390A>G (p.His797Arg) c.1379A>G (p.His460Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101764311T>G | CA386297821 | GNPTAB | c.2606A>C (p.His869Pro) c.2525A>C (p.His842Pro) c.2390A>C (p.His797Pro) c.1379A>C (p.His460Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764311T= | CA2058955351 | GNPTAB | c.2606A= (p.His869=) c.2525A= (p.His842=) c.2390A= (p.His797=) c.1379A= (p.His460=) | |
| 12 | g.101764312G>A | CA386297824 | GNPTAB | c.2605C>T (p.His869Tyr) c.2524C>T (p.His842Tyr) c.2389C>T (p.His797Tyr) c.1378C>T (p.His460Tyr) | |
| 12 | g.101764312G>C | CA386297826 | GNPTAB | c.2605C>G (p.His869Asp) c.2524C>G (p.His842Asp) c.2389C>G (p.His797Asp) c.1378C>G (p.His460Asp) | |
| 12 | g.101764312G>T | CA386297828 | GNPTAB | c.2605C>A (p.His869Asn) c.2524C>A (p.His842Asn) c.2389C>A (p.His797Asn) c.1378C>A (p.His460Asn) | |
| 12 | g.101764313A= | CA2058955352 | GNPTAB | c.2604T= (p.Asn868=) c.2523T= (p.Asn841=) c.2388T= (p.Asn796=) c.1377T= (p.Asn459=) | |
| 12 | g.101764313A>C | CA386297831 | GNPTAB | c.2604T>G (p.Asn868Lys) c.2523T>G (p.Asn841Lys) c.2388T>G (p.Asn796Lys) c.1377T>G (p.Asn459Lys) | dbSNP gnomAD v4 |
| 12 | g.101764313A>G | CA481319278 | GNPTAB | c.2604T>C (p.Asn868=) c.2523T>C (p.Asn841=) c.2388T>C (p.Asn796=) c.1377T>C (p.Asn459=) | |
| 12 | g.101764313A>T | CA6746406 | GNPTAB | c.2604T>A (p.Asn868Lys) c.2523T>A (p.Asn841Lys) c.2388T>A (p.Asn796Lys) c.1377T>A (p.Asn459Lys) | dbSNP ExAC COSMIC |
| 12 | g.101764314T>A | CA242456168 | GNPTAB | c.2603A>T (p.Asn868Ile) c.2522A>T (p.Asn841Ile) c.2387A>T (p.Asn796Ile) c.1376A>T (p.Asn459Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101764314T>C | CA386297835 | GNPTAB | c.2603A>G (p.Asn868Ser) c.2522A>G (p.Asn841Ser) c.2387A>G (p.Asn796Ser) c.1376A>G (p.Asn459Ser) | |
| 12 | g.101764314T>G | CA386297837 | GNPTAB | c.2603A>C (p.Asn868Thr) c.2522A>C (p.Asn841Thr) c.2387A>C (p.Asn796Thr) c.1376A>C (p.Asn459Thr) | |
| 12 | g.101764314T= | CA2058955353 | GNPTAB | c.2603A= (p.Asn868=) c.2522A= (p.Asn841=) c.2387A= (p.Asn796=) c.1376A= (p.Asn459=) | |
| 12 | g.101764315T>A | CA386297839 | GNPTAB | c.2602A>T (p.Asn868Tyr) c.2521A>T (p.Asn841Tyr) c.2386A>T (p.Asn796Tyr) c.1375A>T (p.Asn459Tyr) | |
| 12 | g.101764315T>C | CA386297840 | GNPTAB | c.2602A>G (p.Asn868Asp) c.2521A>G (p.Asn841Asp) c.2386A>G (p.Asn796Asp) c.1375A>G (p.Asn459Asp) | |
| 12 | g.101764315T>G | CA6746407 | GNPTAB | c.2602A>C (p.Asn868His) c.2521A>C (p.Asn841His) c.2386A>C (p.Asn796His) c.1375A>C (p.Asn459His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101764315T= | CA2058955354 | GNPTAB | c.2602A= (p.Asn868=) c.2521A= (p.Asn841=) c.2386A= (p.Asn796=) c.1375A= (p.Asn459=) | |
| 12 | g.101764316T>A | CA386297844 | GNPTAB | c.2601A>T (p.Glu867Asp) c.2520A>T (p.Glu840Asp) c.2385A>T (p.Glu795Asp) c.1374A>T (p.Glu458Asp) | |
| 12 | g.101764316T>C | CA481319279 | GNPTAB | c.2601A>G (p.Glu867=) c.2520A>G (p.Glu840=) c.2385A>G (p.Glu795=) c.1374A>G (p.Glu458=) | gnomAD v4 |
| 12 | g.101764316T>G | CA386297842 | GNPTAB | c.2601A>C (p.Glu867Asp) c.2520A>C (p.Glu840Asp) c.2385A>C (p.Glu795Asp) c.1374A>C (p.Glu458Asp) | |
| 12 | g.101764317T>A | CA386297846 | GNPTAB | c.2600A>T (p.Glu867Val) c.2519A>T (p.Glu840Val) c.2384A>T (p.Glu795Val) c.1373A>T (p.Glu458Val) | |
| 12 | g.101764317T>C | CA386297852 | GNPTAB | c.2600A>G (p.Glu867Gly) c.2519A>G (p.Glu840Gly) c.2384A>G (p.Glu795Gly) c.1373A>G (p.Glu458Gly) | |
| 12 | g.101764317T>G | CA386297849 | GNPTAB | c.2600A>C (p.Glu867Ala) c.2519A>C (p.Glu840Ala) c.2384A>C (p.Glu795Ala) c.1373A>C (p.Glu458Ala) | gnomAD v4 |
| 12 | g.101764318C>A | CA386297853 | GNPTAB | c.2599G>T (p.Glu867Ter) c.2518G>T (p.Glu840Ter) c.2383G>T (p.Glu795Ter) c.1372G>T (p.Glu458Ter) | |
| 12 | g.101764318C>G | CA386297856 | GNPTAB | c.2599G>C (p.Glu867Gln) c.2518G>C (p.Glu840Gln) c.2383G>C (p.Glu795Gln) c.1372G>C (p.Glu458Gln) | |
| 12 | g.101764318C>T | CA386297858 | GNPTAB | c.2599G>A (p.Glu867Lys) c.2518G>A (p.Glu840Lys) c.2383G>A (p.Glu795Lys) c.1372G>A (p.Glu458Lys) | |
| 12 | g.101764319A>C | CA481319284 | GNPTAB | c.2598T>G (p.Ala866=) c.2517T>G (p.Ala839=) c.2382T>G (p.Ala794=) c.1371T>G (p.Ala457=) | |
| 12 | g.101764319A>G | CA481319285 | GNPTAB | c.2598T>C (p.Ala866=) c.2517T>C (p.Ala839=) c.2382T>C (p.Ala794=) c.1371T>C (p.Ala457=) | |
| 12 | g.101764319A>T | CA481319286 | GNPTAB | c.2598T>A (p.Ala866=) c.2517T>A (p.Ala839=) c.2382T>A (p.Ala794=) c.1371T>A (p.Ala457=) | |
| 12 | g.101764320G>A | CA386297861 | GNPTAB | c.2597C>T (p.Ala866Val) c.2516C>T (p.Ala839Val) c.2381C>T (p.Ala794Val) c.1370C>T (p.Ala457Val) | |
| 12 | g.101764320G>C | CA386297863 | GNPTAB | c.2597C>G (p.Ala866Gly) c.2516C>G (p.Ala839Gly) c.2381C>G (p.Ala794Gly) c.1370C>G (p.Ala457Gly) | dbSNP |
| 12 | g.101764320G= | CA2058955355 | GNPTAB | c.2597C= (p.Ala866=) c.2516C= (p.Ala839=) c.2381C= (p.Ala794=) c.1370C= (p.Ala457=) | |
| 12 | g.101764320G>T | CA386297865 | GNPTAB | c.2597C>A (p.Ala866Asp) c.2516C>A (p.Ala839Asp) c.2381C>A (p.Ala794Asp) c.1370C>A (p.Ala457Asp) | dbSNP gnomAD v4 |
| 12 | g.101764321C>A | CA386297867 | GNPTAB | c.2596G>T (p.Ala866Ser) c.2515G>T (p.Ala839Ser) c.2380G>T (p.Ala794Ser) c.1369G>T (p.Ala457Ser) | |
| 12 | g.101764321C>G | CA386297869 | GNPTAB | c.2596G>C (p.Ala866Pro) c.2515G>C (p.Ala839Pro) c.2380G>C (p.Ala794Pro) c.1369G>C (p.Ala457Pro) | |
| 12 | g.101764321C>T | CA386297871 | GNPTAB | c.2596G>A (p.Ala866Thr) c.2515G>A (p.Ala839Thr) c.2380G>A (p.Ala794Thr) c.1369G>A (p.Ala457Thr) | |
| 12 | g.101764322A>C | CA386297873 | GNPTAB | c.2595T>G (p.Asn865Lys) c.2514T>G (p.Asn838Lys) c.2379T>G (p.Asn793Lys) c.1368T>G (p.Asn456Lys) | |
| 12 | g.101764322A>G | CA481319288 | GNPTAB | c.2595T>C (p.Asn865=) c.2514T>C (p.Asn838=) c.2379T>C (p.Asn793=) c.1368T>C (p.Asn456=) | gnomAD v4 |
| 12 | g.101764322A>T | CA386297875 | GNPTAB | c.2595T>A (p.Asn865Lys) c.2514T>A (p.Asn838Lys) c.2379T>A (p.Asn793Lys) c.1368T>A (p.Asn456Lys) | |
| 12 | g.101764323T>A | CA386297880 | GNPTAB | c.2594A>T (p.Asn865Ile) c.2513A>T (p.Asn838Ile) c.2378A>T (p.Asn793Ile) c.1367A>T (p.Asn456Ile) | |
| 12 | g.101764323T>C | CA386297878 | GNPTAB | c.2594A>G (p.Asn865Ser) c.2513A>G (p.Asn838Ser) c.2378A>G (p.Asn793Ser) c.1367A>G (p.Asn456Ser) | |
| 12 | g.101764323T>G | CA386297877 | GNPTAB | c.2594A>C (p.Asn865Thr) c.2513A>C (p.Asn838Thr) c.2378A>C (p.Asn793Thr) c.1367A>C (p.Asn456Thr) | |
| 12 | g.101764324T>A | CA386297883 | GNPTAB | c.2593A>T (p.Asn865Tyr) c.2512A>T (p.Asn838Tyr) c.2377A>T (p.Asn793Tyr) c.1366A>T (p.Asn456Tyr) | |
| 12 | g.101764324T>C | CA386297884 | GNPTAB | c.2593A>G (p.Asn865Asp) c.2512A>G (p.Asn838Asp) c.2377A>G (p.Asn793Asp) c.1366A>G (p.Asn456Asp) | |
| 12 | g.101764324T>G | CA386297886 | GNPTAB | c.2593A>C (p.Asn865His) c.2512A>C (p.Asn838His) c.2377A>C (p.Asn793His) c.1366A>C (p.Asn456His) | |
| 12 | g.101764325T>A | CA386297888 | GNPTAB | c.2592A>T (p.Glu864Asp) c.2511A>T (p.Glu837Asp) c.2376A>T (p.Glu792Asp) c.1365A>T (p.Glu455Asp) | |
| 12 | g.101764325T>C | CA6746408 | GNPTAB | c.2592A>G (p.Glu864=) c.2511A>G (p.Glu837=) c.2376A>G (p.Glu792=) c.1365A>G (p.Glu455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101764325T>G | CA386297890 | GNPTAB | c.2592A>C (p.Glu864Asp) c.2511A>C (p.Glu837Asp) c.2376A>C (p.Glu792Asp) c.1365A>C (p.Glu455Asp) | |
| 12 | g.101764325T= | CA2058955356 | GNPTAB | c.2592A= (p.Glu864=) c.2511A= (p.Glu837=) c.2376A= (p.Glu792=) c.1365A= (p.Glu455=) | |
| 12 | g.101764325_101764326insC | CA344272 | GNPTAB | c.2591_2592insG (p.Asn865LysfsTer3) c.2510_2511insG (p.Asn838LysfsTer3) c.2375_2376insG (p.Asn793LysfsTer3) c.1364_1365insG (p.Asn456LysfsTer3) | ClinVar dbSNP |
| 12 | g.101764326T>A | CA386297893 | GNPTAB | c.2591A>T (p.Glu864Val) c.2510A>T (p.Glu837Val) c.2375A>T (p.Glu792Val) c.1364A>T (p.Glu455Val) | |
| 12 | g.101764326T>C | CA386297895 | GNPTAB | c.2591A>G (p.Glu864Gly) c.2510A>G (p.Glu837Gly) c.2375A>G (p.Glu792Gly) c.1364A>G (p.Glu455Gly) | |
| 12 | g.101764326T>G | CA386297897 | GNPTAB | c.2591A>C (p.Glu864Ala) c.2510A>C (p.Glu837Ala) c.2375A>C (p.Glu792Ala) c.1364A>C (p.Glu455Ala) | |
| 12 | g.101764327C>A | CA386297899 | GNPTAB | c.2590G>T (p.Glu864Ter) c.2509G>T (p.Glu837Ter) c.2374G>T (p.Glu792Ter) c.1363G>T (p.Glu455Ter) | |
| 12 | g.101764327C= | CA2058955357 | GNPTAB | c.2590G= (p.Glu864=) c.2509G= (p.Glu837=) c.2374G= (p.Glu792=) c.1363G= (p.Glu455=) | |
| 12 | g.101764327C>G | CA386297900 | GNPTAB | c.2590G>C (p.Glu864Gln) c.2509G>C (p.Glu837Gln) c.2374G>C (p.Glu792Gln) c.1363G>C (p.Glu455Gln) | |
| 12 | g.101764327C>T | CA386297902 | GNPTAB | c.2590G>A (p.Glu864Lys) c.2509G>A (p.Glu837Lys) c.2374G>A (p.Glu792Lys) c.1363G>A (p.Glu455Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764328dup | CA2573147947 | GNPTAB | c.2590dup (p.Glu864GlyfsTer4) c.2509dup (p.Glu837GlyfsTer4) c.2374dup (p.Glu792GlyfsTer4) c.1363dup (p.Glu455GlyfsTer4) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101764328C>A | CA386297904 | GNPTAB | c.2589G>T (p.Glu863Asp) c.2508G>T (p.Glu836Asp) c.2373G>T (p.Glu791Asp) c.1362G>T (p.Glu454Asp) | |
| 12 | g.101764328C>G | CA386297906 | GNPTAB | c.2589G>C (p.Glu863Asp) c.2508G>C (p.Glu836Asp) c.2373G>C (p.Glu791Asp) c.1362G>C (p.Glu454Asp) | |
| 12 | g.101764328C>T | CA481319295 | GNPTAB | c.2589G>A (p.Glu863=) c.2508G>A (p.Glu836=) c.2373G>A (p.Glu791=) c.1362G>A (p.Glu454=) | |
| 12 | g.101764329T>A | CA386297907 | GNPTAB | c.2588A>T (p.Glu863Val) c.2507A>T (p.Glu836Val) c.2372A>T (p.Glu791Val) c.1361A>T (p.Glu454Val) | |
| 12 | g.101764329T>C | CA386297910 | GNPTAB | c.2588A>G (p.Glu863Gly) c.2507A>G (p.Glu836Gly) c.2372A>G (p.Glu791Gly) c.1361A>G (p.Glu454Gly) | |
| 12 | g.101764329T>G | CA386297909 | GNPTAB | c.2588A>C (p.Glu863Ala) c.2507A>C (p.Glu836Ala) c.2372A>C (p.Glu791Ala) c.1361A>C (p.Glu454Ala) | |
| 12 | g.101764330C>A | CA386297911 | GNPTAB | c.2587G>T (p.Glu863Ter) c.2506G>T (p.Glu836Ter) c.2371G>T (p.Glu791Ter) c.1360G>T (p.Glu454Ter) | |
| 12 | g.101764330C>G | CA386297912 | GNPTAB | c.2587G>C (p.Glu863Gln) c.2506G>C (p.Glu836Gln) c.2371G>C (p.Glu791Gln) c.1360G>C (p.Glu454Gln) | |
| 12 | g.101764330C>T | CA386297913 | GNPTAB | c.2587G>A (p.Glu863Lys) c.2506G>A (p.Glu836Lys) c.2371G>A (p.Glu791Lys) c.1360G>A (p.Glu454Lys) | |
| 12 | g.101764331C>A | CA386297914 | GNPTAB | c.2586G>T (p.Met862Ile) c.2505G>T (p.Met835Ile) c.2370G>T (p.Met790Ile) c.1359G>T (p.Met453Ile) | |
| 12 | g.101764331C= | CA2058955358 | GNPTAB | c.2586G= (p.Met862=) c.2505G= (p.Met835=) c.2370G= (p.Met790=) c.1359G= (p.Met453=) | |
| 12 | g.101764331C>G | CA386297915 | GNPTAB | c.2586G>C (p.Met862Ile) c.2505G>C (p.Met835Ile) c.2370G>C (p.Met790Ile) c.1359G>C (p.Met453Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101764331C>T | CA386297916 | GNPTAB | c.2586G>A (p.Met862Ile) c.2505G>A (p.Met835Ile) c.2370G>A (p.Met790Ile) c.1359G>A (p.Met453Ile) | |
| 12 | g.101764332A>C | CA386297917 | GNPTAB | c.2585T>G (p.Met862Arg) c.2504T>G (p.Met835Arg) c.2369T>G (p.Met790Arg) c.1358T>G (p.Met453Arg) | |
| 12 | g.101764332A>G | CA386297918 | GNPTAB | c.2585T>C (p.Met862Thr) c.2504T>C (p.Met835Thr) c.2369T>C (p.Met790Thr) c.1358T>C (p.Met453Thr) | |
| 12 | g.101764332A>T | CA386297919 | GNPTAB | c.2585T>A (p.Met862Lys) c.2504T>A (p.Met835Lys) c.2369T>A (p.Met790Lys) c.1358T>A (p.Met453Lys) | |
| 12 | g.101764332_101764340del | CA2620445302 | GNPTAB | c.2577_2585del (p.Asn859_Met862delinsLys) c.2496_2504del (p.Asn832_Met835delinsLys) c.2361_2369del (p.Asn787_Met790delinsLys) c.1350_1358del (p.Asn450_Met453delinsLys) | gnomAD v4 |
| 12 | g.101764333T>A | CA386297920 | GNPTAB | c.2584A>T (p.Met862Leu) c.2503A>T (p.Met835Leu) c.2368A>T (p.Met790Leu) c.1357A>T (p.Met453Leu) | |
| 12 | g.101764333T>C | CA6746409 | GNPTAB | c.2584A>G (p.Met862Val) c.2503A>G (p.Met835Val) c.2368A>G (p.Met790Val) c.1357A>G (p.Met453Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764333T>G | CA386297921 | GNPTAB | c.2584A>C (p.Met862Leu) c.2503A>C (p.Met835Leu) c.2368A>C (p.Met790Leu) c.1357A>C (p.Met453Leu) | |
| 12 | g.101764333T= | CA2058955359 | GNPTAB | c.2584A= (p.Met862=) c.2503A= (p.Met835=) c.2368A= (p.Met790=) c.1357A= (p.Met453=) | |
| 12 | g.101764334T>A | CA386297923 | GNPTAB | c.2583A>T (p.Arg861Ser) c.2502A>T (p.Arg834Ser) c.2367A>T (p.Arg789Ser) c.1356A>T (p.Arg452Ser) | |
| 12 | g.101764334T>C | CA481319298 | GNPTAB | c.2583A>G (p.Arg861=) c.2502A>G (p.Arg834=) c.2367A>G (p.Arg789=) c.1356A>G (p.Arg452=) | |
| 12 | g.101764334T>G | CA386297922 | GNPTAB | c.2583A>C (p.Arg861Ser) c.2502A>C (p.Arg834Ser) c.2367A>C (p.Arg789Ser) c.1356A>C (p.Arg452Ser) | |
| 12 | g.101764335C>A | CA386297924 | GNPTAB | c.2582G>T (p.Arg861Ile) c.2501G>T (p.Arg834Ile) c.2366G>T (p.Arg789Ile) c.1355G>T (p.Arg452Ile) | |
| 12 | g.101764335C= | CA2058955360 | GNPTAB | c.2582G= (p.Arg861=) c.2501G= (p.Arg834=) c.2366G= (p.Arg789=) c.1355G= (p.Arg452=) | |
| 12 | g.101764335C>G | CA386297925 | GNPTAB | c.2582G>C (p.Arg861Thr) c.2501G>C (p.Arg834Thr) c.2366G>C (p.Arg789Thr) c.1355G>C (p.Arg452Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764335C>T | CA6746410 | GNPTAB | c.2582G>A (p.Arg861Lys) c.2501G>A (p.Arg834Lys) c.2366G>A (p.Arg789Lys) c.1355G>A (p.Arg452Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764336T>A | CA386297926 | GNPTAB | c.2581A>T (p.Arg861Ter) c.2500A>T (p.Arg834Ter) c.2365A>T (p.Arg789Ter) c.1354A>T (p.Arg452Ter) | |
| 12 | g.101764336T>C | CA386297927 | GNPTAB | c.2581A>G (p.Arg861Gly) c.2500A>G (p.Arg834Gly) c.2365A>G (p.Arg789Gly) c.1354A>G (p.Arg452Gly) | |
| 12 | g.101764336T>G | CA481576681 | GNPTAB | c.2581A>C (p.Arg861=) c.2500A>C (p.Arg834=) c.2365A>C (p.Arg789=) c.1354A>C (p.Arg452=) | |
| 12 | g.101764337A>C | CA386297928 | GNPTAB | c.2580T>G (p.Ser860Arg) c.2499T>G (p.Ser833Arg) c.2364T>G (p.Ser788Arg) c.1353T>G (p.Ser451Arg) | |
| 12 | g.101764337A>G | CA481576682 | GNPTAB | c.2580T>C (p.Ser860=) c.2499T>C (p.Ser833=) c.2364T>C (p.Ser788=) c.1353T>C (p.Ser451=) | ClinVar gnomAD v4 |
| 12 | g.101764337A>T | CA386297929 | GNPTAB | c.2580T>A (p.Ser860Arg) c.2499T>A (p.Ser833Arg) c.2364T>A (p.Ser788Arg) c.1353T>A (p.Ser451Arg) | |
| 12 | g.101764338C>A | CA386297930 | GNPTAB | c.2579G>T (p.Ser860Ile) c.2498G>T (p.Ser833Ile) c.2363G>T (p.Ser788Ile) c.1352G>T (p.Ser451Ile) | |
| 12 | g.101764338C= | CA2058955361 | GNPTAB | c.2579G= (p.Ser860=) c.2498G= (p.Ser833=) c.2363G= (p.Ser788=) c.1352G= (p.Ser451=) | |
| 12 | g.101764338C>G | CA386297931 | GNPTAB | c.2579G>C (p.Ser860Thr) c.2498G>C (p.Ser833Thr) c.2363G>C (p.Ser788Thr) c.1352G>C (p.Ser451Thr) | |
| 12 | g.101764338C>T | CA386297932 | GNPTAB | c.2579G>A (p.Ser860Asn) c.2498G>A (p.Ser833Asn) c.2363G>A (p.Ser788Asn) c.1352G>A (p.Ser451Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101764339T>A | CA386297933 | GNPTAB | c.2578A>T (p.Ser860Cys) c.2497A>T (p.Ser833Cys) c.2362A>T (p.Ser788Cys) c.1351A>T (p.Ser451Cys) | |
| 12 | g.101764339T>C | CA386297934 | GNPTAB | c.2578A>G (p.Ser860Gly) c.2497A>G (p.Ser833Gly) c.2362A>G (p.Ser788Gly) c.1351A>G (p.Ser451Gly) | |
| 12 | g.101764339T>G | CA386297935 | GNPTAB | c.2578A>C (p.Ser860Arg) c.2497A>C (p.Ser833Arg) c.2362A>C (p.Ser788Arg) c.1351A>C (p.Ser451Arg) | |
| 12 | g.101764340G>A | CA481576684 | GNPTAB | c.2577C>T (p.Asn859=) c.2496C>T (p.Asn832=) c.2361C>T (p.Asn787=) c.1350C>T (p.Asn450=) | |
| 12 | g.101764340G>C | CA386297936 | GNPTAB | c.2577C>G (p.Asn859Lys) c.2496C>G (p.Asn832Lys) c.2361C>G (p.Asn787Lys) c.1350C>G (p.Asn450Lys) | |
| 12 | g.101764340G= | CA2058955362 | GNPTAB | c.2577C= (p.Asn859=) c.2496C= (p.Asn832=) c.2361C= (p.Asn787=) c.1350C= (p.Asn450=) | |
| 12 | g.101764340G>T | CA386297937 | GNPTAB | c.2577C>A (p.Asn859Lys) c.2496C>A (p.Asn832Lys) c.2361C>A (p.Asn787Lys) c.1350C>A (p.Asn450Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101764341T>A | CA386297938 | GNPTAB | c.2576A>T (p.Asn859Ile) c.2495A>T (p.Asn832Ile) c.2360A>T (p.Asn787Ile) c.1349A>T (p.Asn450Ile) | |
| 12 | g.101764341T>C | CA386297939 | GNPTAB | c.2576A>G (p.Asn859Ser) c.2495A>G (p.Asn832Ser) c.2360A>G (p.Asn787Ser) c.1349A>G (p.Asn450Ser) | |
| 12 | g.101764341T>G | CA386297940 | GNPTAB | c.2576A>C (p.Asn859Thr) c.2495A>C (p.Asn832Thr) c.2360A>C (p.Asn787Thr) c.1349A>C (p.Asn450Thr) | |
| 12 | g.101764341_101764343delinsTTC | CA2058955363 | GNPTAB | c.2574_2576delinsGAA (p.Glu858=) c.2493_2495delinsGAA (p.Glu831=) c.2358_2360delinsGAA (p.Glu786=) c.1347_1349delinsGAA (p.Glu449=) | |
| 12 | g.101764342T>A | CA386297941 | GNPTAB | c.2575A>T (p.Asn859Tyr) c.2494A>T (p.Asn832Tyr) c.2359A>T (p.Asn787Tyr) c.1348A>T (p.Asn450Tyr) | |
| 12 | g.101764342T>C | CA386297942 | GNPTAB | c.2575A>G (p.Asn859Asp) c.2494A>G (p.Asn832Asp) c.2359A>G (p.Asn787Asp) c.1348A>G (p.Asn450Asp) | gnomAD v4 |
| 12 | g.101764342T>G | CA386297943 | GNPTAB | c.2575A>C (p.Asn859His) c.2494A>C (p.Asn832His) c.2359A>C (p.Asn787His) c.1348A>C (p.Asn450His) | |
| 12 | g.101764345_101764346del | CA343070 | GNPTAB | c.2574_2575del (p.Asn859GlnfsTer2) c.2493_2494del (p.Asn832GlnfsTer2) c.2358_2359del (p.Asn787GlnfsTer2) c.1347_1348del (p.Asn450GlnfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764343C>A | CA386297944 | GNPTAB | c.2574G>T (p.Glu858Asp) c.2493G>T (p.Glu831Asp) c.2358G>T (p.Glu786Asp) c.1347G>T (p.Glu449Asp) | |
| 12 | g.101764343C= | CA2058955364 | GNPTAB | c.2574G= (p.Glu858=) c.2493G= (p.Glu831=) c.2358G= (p.Glu786=) c.1347G= (p.Glu449=) | |
| 12 | g.101764343C>G | CA386297945 | GNPTAB | c.2574G>C (p.Glu858Asp) c.2493G>C (p.Glu831Asp) c.2358G>C (p.Glu786Asp) c.1347G>C (p.Glu449Asp) | |
| 12 | g.101764343C>T | CA481576685 | GNPTAB | c.2574G>A (p.Glu858=) c.2493G>A (p.Glu831=) c.2358G>A (p.Glu786=) c.1347G>A (p.Glu449=) | dbSNP gnomAD v2 |
| 12 | g.101764344T>A | CA386297946 | GNPTAB | c.2573A>T (p.Glu858Val) c.2492A>T (p.Glu831Val) c.2357A>T (p.Glu786Val) c.1346A>T (p.Glu449Val) | |
| 12 | g.101764344T>C | CA386297947 | GNPTAB | c.2573A>G (p.Glu858Gly) c.2492A>G (p.Glu831Gly) c.2357A>G (p.Glu786Gly) c.1346A>G (p.Glu449Gly) | |
| 12 | g.101764344T>G | CA386297948 | GNPTAB | c.2573A>C (p.Glu858Ala) c.2492A>C (p.Glu831Ala) c.2357A>C (p.Glu786Ala) c.1346A>C (p.Glu449Ala) | |
| 12 | g.101764345C>A | CA386297950 | GNPTAB | c.2572G>T (p.Glu858Ter) c.2491G>T (p.Glu831Ter) c.2356G>T (p.Glu786Ter) c.1345G>T (p.Glu449Ter) | |
| 12 | g.101764345C= | CA2058955365 | GNPTAB | c.2572G= (p.Glu858=) c.2491G= (p.Glu831=) c.2356G= (p.Glu786=) c.1345G= (p.Glu449=) | |
| 12 | g.101764345C>G | CA386297951 | GNPTAB | c.2572G>C (p.Glu858Gln) c.2491G>C (p.Glu831Gln) c.2356G>C (p.Glu786Gln) c.1345G>C (p.Glu449Gln) | |
| 12 | g.101764345C>T | CA386297949 | GNPTAB | c.2572G>A (p.Glu858Lys) c.2491G>A (p.Glu831Lys) c.2356G>A (p.Glu786Lys) c.1345G>A (p.Glu449Lys) | |
| 12 | g.101764346T>A | CA386297952 | GNPTAB | c.2571A>T (p.Lys857Asn) c.2490A>T (p.Lys830Asn) c.2355A>T (p.Lys785Asn) c.1344A>T (p.Lys448Asn) | |
| 12 | g.101764346T>C | CA481576686 | GNPTAB | c.2571A>G (p.Lys857=) c.2490A>G (p.Lys830=) c.2355A>G (p.Lys785=) c.1344A>G (p.Lys448=) | gnomAD v4 |
| 12 | g.101764346T>G | CA386297953 | GNPTAB | c.2571A>C (p.Lys857Asn) c.2490A>C (p.Lys830Asn) c.2355A>C (p.Lys785Asn) c.1344A>C (p.Lys448Asn) | |
| 12 | g.101764350dup | CA2058955366 | GNPTAB | c.2571dup (p.Glu858ArgfsTer4) c.2490dup (p.Glu831ArgfsTer4) c.2355dup (p.Glu786ArgfsTer4) c.1344dup (p.Glu449ArgfsTer4) | dbSNP |