| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101764236C>A | CA386297466 | GNPTAB | c.2681G>T (p.Trp894Leu) c.2600G>T (p.Trp867Leu) c.2465G>T (p.Trp822Leu) c.1454G>T (p.Trp485Leu) | |
| 12 | g.101764236C= | CA2058955319 | GNPTAB | c.2681G= (p.Trp894=) c.2600G= (p.Trp867=) c.2465G= (p.Trp822=) c.1454G= (p.Trp485=) | |
| 12 | g.101764236C>G | CA386297468 | GNPTAB | c.2681G>C (p.Trp894Ser) c.2600G>C (p.Trp867Ser) c.2465G>C (p.Trp822Ser) c.1454G>C (p.Trp485Ser) | |
| 12 | g.101764236C>T | CA340014 | GNPTAB | c.2681G>A (p.Trp894Ter) c.2600G>A (p.Trp867Ter) c.2465G>A (p.Trp822Ter) c.1454G>A (p.Trp485Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101764237A>C | CA386297470 | GNPTAB | c.2680T>G (p.Trp894Gly) c.2599T>G (p.Trp867Gly) c.2464T>G (p.Trp822Gly) c.1453T>G (p.Trp485Gly) | gnomAD v4 |
| 12 | g.101764237A>G | CA386297472 | GNPTAB | c.2680T>C (p.Trp894Arg) c.2599T>C (p.Trp867Arg) c.2464T>C (p.Trp822Arg) c.1453T>C (p.Trp485Arg) | |
| 12 | g.101764237A>T | CA386297474 | GNPTAB | c.2680T>A (p.Trp894Arg) c.2599T>A (p.Trp867Arg) c.2464T>A (p.Trp822Arg) c.1453T>A (p.Trp485Arg) | |
| 12 | g.101764238T>A | CA481319163 | GNPTAB | c.2679A>T (p.Pro893=) c.2598A>T (p.Pro866=) c.2463A>T (p.Pro821=) c.1452A>T (p.Pro484=) | |
| 12 | g.101764238T>C | CA242456025 | GNPTAB | c.2679A>G (p.Pro893=) c.2598A>G (p.Pro866=) c.2463A>G (p.Pro821=) c.1452A>G (p.Pro484=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101764238T>G | CA481319164 | GNPTAB | c.2679A>C (p.Pro893=) c.2598A>C (p.Pro866=) c.2463A>C (p.Pro821=) c.1452A>C (p.Pro484=) | |
| 12 | g.101764238T= | CA2058955320 | GNPTAB | c.2679A= (p.Pro893=) c.2598A= (p.Pro866=) c.2463A= (p.Pro821=) c.1452A= (p.Pro484=) | |
| 12 | g.101764239G>A | CA6746392 | GNPTAB | c.2678C>T (p.Pro893Leu) c.2597C>T (p.Pro866Leu) c.2462C>T (p.Pro821Leu) c.1451C>T (p.Pro484Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.101764239G>C | CA386297476 | GNPTAB | c.2678C>G (p.Pro893Arg) c.2597C>G (p.Pro866Arg) c.2462C>G (p.Pro821Arg) c.1451C>G (p.Pro484Arg) | |
| 12 | g.101764239G= | CA2058955321 | GNPTAB | c.2678C= (p.Pro893=) c.2597C= (p.Pro866=) c.2462C= (p.Pro821=) c.1451C= (p.Pro484=) | |
| 12 | g.101764239G>T | CA386297478 | GNPTAB | c.2678C>A (p.Pro893Gln) c.2597C>A (p.Pro866Gln) c.2462C>A (p.Pro821Gln) c.1451C>A (p.Pro484Gln) | |
| 12 | g.101764240G>A | CA386297481 | GNPTAB | c.2677C>T (p.Pro893Ser) c.2596C>T (p.Pro866Ser) c.2461C>T (p.Pro821Ser) c.1450C>T (p.Pro484Ser) | gnomAD v4 |
| 12 | g.101764240G>C | CA386297483 | GNPTAB | c.2677C>G (p.Pro893Ala) c.2596C>G (p.Pro866Ala) c.2461C>G (p.Pro821Ala) c.1450C>G (p.Pro484Ala) | |
| 12 | g.101764240G>T | CA386297485 | GNPTAB | c.2677C>A (p.Pro893Thr) c.2596C>A (p.Pro866Thr) c.2461C>A (p.Pro821Thr) c.1450C>A (p.Pro484Thr) | |
| 12 | g.101764241C>A | CA386297487 | GNPTAB | c.2676G>T (p.Leu892Phe) c.2595G>T (p.Leu865Phe) c.2460G>T (p.Leu820Phe) c.1449G>T (p.Leu483Phe) | |
| 12 | g.101764241C>G | CA386297488 | GNPTAB | c.2676G>C (p.Leu892Phe) c.2595G>C (p.Leu865Phe) c.2460G>C (p.Leu820Phe) c.1449G>C (p.Leu483Phe) | |
| 12 | g.101764241C>T | CA481319167 | GNPTAB | c.2676G>A (p.Leu892=) c.2595G>A (p.Leu865=) c.2460G>A (p.Leu820=) c.1449G>A (p.Leu483=) | |
| 12 | g.101764241_101764242delinsCA | CA2058955322 | GNPTAB | c.2675_2676delinsTG (p.Leu892=) c.2594_2595delinsTG (p.Leu865=) c.2459_2460delinsTG (p.Leu820=) c.1448_1449delinsTG (p.Leu483=) | |
| 12 | g.101764242A>C | CA386297491 | GNPTAB | c.2675T>G (p.Leu892Trp) c.2594T>G (p.Leu865Trp) c.2459T>G (p.Leu820Trp) c.1448T>G (p.Leu483Trp) | |
| 12 | g.101764242A>G | CA386297493 | GNPTAB | c.2675T>C (p.Leu892Ser) c.2594T>C (p.Leu865Ser) c.2459T>C (p.Leu820Ser) c.1448T>C (p.Leu483Ser) | |
| 12 | g.101764242A>T | CA386297492 | GNPTAB | c.2675T>A (p.Leu892Ter) c.2594T>A (p.Leu865Ter) c.2459T>A (p.Leu820Ter) c.1448T>A (p.Leu483Ter) | |
| 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.101764243A= | CA2058955324 | GNPTAB | c.2674T= (p.Leu892=) c.2593T= (p.Leu865=) c.2458T= (p.Leu820=) c.1447T= (p.Leu483=) | |
| 12 | g.101764243A>C | CA386297494 | GNPTAB | c.2674T>G (p.Leu892Val) c.2593T>G (p.Leu865Val) c.2458T>G (p.Leu820Val) c.1447T>G (p.Leu483Val) | |
| 12 | g.101764243A>G | CA481319171 | GNPTAB | c.2674T>C (p.Leu892=) c.2593T>C (p.Leu865=) c.2458T>C (p.Leu820=) c.1447T>C (p.Leu483=) | |
| 12 | g.101764243A>T | CA386297496 | GNPTAB | c.2674T>A (p.Leu892Met) c.2593T>A (p.Leu865Met) c.2458T>A (p.Leu820Met) c.1447T>A (p.Leu483Met) | |
| 12 | g.101764244A>C | CA386297499 | GNPTAB | c.2673T>G (p.Phe891Leu) c.2592T>G (p.Phe864Leu) c.2457T>G (p.Phe819Leu) c.1446T>G (p.Phe482Leu) | |
| 12 | g.101764244A>G | CA481319173 | GNPTAB | c.2673T>C (p.Phe891=) c.2592T>C (p.Phe864=) c.2457T>C (p.Phe819=) c.1446T>C (p.Phe482=) | |
| 12 | g.101764244A>T | CA386297501 | GNPTAB | c.2673T>A (p.Phe891Leu) c.2592T>A (p.Phe864Leu) c.2457T>A (p.Phe819Leu) c.1446T>A (p.Phe482Leu) | |
| 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.101764245A>C | CA386297503 | GNPTAB | c.2672T>G (p.Phe891Cys) c.2591T>G (p.Phe864Cys) c.2456T>G (p.Phe819Cys) c.1445T>G (p.Phe482Cys) | |
| 12 | g.101764245A>G | CA386297505 | GNPTAB | c.2672T>C (p.Phe891Ser) c.2591T>C (p.Phe864Ser) c.2456T>C (p.Phe819Ser) c.1445T>C (p.Phe482Ser) | |
| 12 | g.101764245A>T | CA386297507 | GNPTAB | c.2672T>A (p.Phe891Tyr) c.2591T>A (p.Phe864Tyr) c.2456T>A (p.Phe819Tyr) c.1445T>A (p.Phe482Tyr) | |
| 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) |