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 |
|---|---|---|---|---|---|
| 3 | g.15644765C>A | CA351607475 | BTD | c.849C>A (p.His283Gln) c.399+2708C>A (n.399+2708C>A) c.165+2708C>A (n.165+2708C>A) c.909C>A (p.His303Gln) c.915C>A (p.His305Gln) c.627C>A (p.His209Gln) c.*2627C>A (n.*2627C>A) | |
| 3 | g.15644765C>G | CA351607476 | BTD | c.849C>G (p.His283Gln) c.399+2708C>G (n.399+2708C>G) c.165+2708C>G (n.165+2708C>G) c.909C>G (p.His303Gln) c.915C>G (p.His305Gln) c.627C>G (p.His209Gln) c.*2627C>G (n.*2627C>G) | |
| 3 | g.15644765C>T | CA432819568 | BTD | c.849C>T (p.His283=) c.399+2708C>T (n.399+2708C>T) c.165+2708C>T (n.165+2708C>T) c.909C>T (p.His303=) c.915C>T (p.His305=) c.627C>T (p.His209=) c.*2627C>T (n.*2627C>T) | |
| 3 | g.15644766C>A | CA351607477 | BTD | c.850C>A (p.Pro284Thr) c.399+2709C>A (n.399+2709C>A) c.165+2709C>A (n.165+2709C>A) c.910C>A (p.Pro304Thr) c.916C>A (p.Pro306Thr) c.628C>A (p.Pro210Thr) c.*2628C>A (n.*2628C>A) | |
| 3 | g.15644766C>G | CA351607478 | BTD | c.850C>G (p.Pro284Ala) c.399+2709C>G (n.399+2709C>G) c.165+2709C>G (n.165+2709C>G) c.910C>G (p.Pro304Ala) c.916C>G (p.Pro306Ala) c.628C>G (p.Pro210Ala) c.*2628C>G (n.*2628C>G) | |
| 3 | g.15644766C>T | CA351607479 | BTD | c.850C>T (p.Pro284Ser) c.399+2709C>T (n.399+2709C>T) c.165+2709C>T (n.165+2709C>T) c.910C>T (p.Pro304Ser) c.916C>T (p.Pro306Ser) c.628C>T (p.Pro210Ser) c.*2628C>T (n.*2628C>T) | |
| 3 | g.15644767C>A | CA351607480 | BTD | c.851C>A (p.Pro284Gln) c.399+2710C>A (n.399+2710C>A) c.165+2710C>A (n.165+2710C>A) c.911C>A (p.Pro304Gln) c.917C>A (p.Pro306Gln) c.629C>A (p.Pro210Gln) c.*2629C>A (n.*2629C>A) | |
| 3 | g.15644767C>G | CA351607481 | BTD | c.851C>G (p.Pro284Arg) c.399+2710C>G (n.399+2710C>G) c.165+2710C>G (n.165+2710C>G) c.911C>G (p.Pro304Arg) c.917C>G (p.Pro306Arg) c.629C>G (p.Pro210Arg) c.*2629C>G (n.*2629C>G) | |
| 3 | g.15644767C>T | CA351607482 | BTD | c.851C>T (p.Pro284Leu) c.399+2710C>T (n.399+2710C>T) c.165+2710C>T (n.165+2710C>T) c.911C>T (p.Pro304Leu) c.917C>T (p.Pro306Leu) c.629C>T (p.Pro210Leu) c.*2629C>T (n.*2629C>T) | gnomAD v4 |
| 3 | g.15644768A= | CA1347664430 | BTD | c.852A= (p.Pro284=) c.399+2711A= (n.399+2711A=) c.165+2711A= (n.165+2711A=) c.912A= (p.Pro304=) c.918A= (p.Pro306=) c.630A= (p.Pro210=) c.*2630A= (n.*2630A=) | |
| 3 | g.15644768A>C | CA432819574 | BTD | c.852A>C (p.Pro284=) c.399+2711A>C (n.399+2711A>C) c.165+2711A>C (n.165+2711A>C) c.912A>C (p.Pro304=) c.918A>C (p.Pro306=) c.630A>C (p.Pro210=) c.*2630A>C (n.*2630A>C) | gnomAD v4 |
| 3 | g.15644768A>G | CA2277395 | BTD | c.852A>G (p.Pro284=) c.399+2711A>G (n.399+2711A>G) c.165+2711A>G (n.165+2711A>G) c.912A>G (p.Pro304=) c.918A>G (p.Pro306=) c.630A>G (p.Pro210=) c.*2630A>G (n.*2630A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644768A>T | CA432819576 | BTD | c.852A>T (p.Pro284=) c.399+2711A>T (n.399+2711A>T) c.165+2711A>T (n.165+2711A>T) c.912A>T (p.Pro304=) c.918A>T (p.Pro306=) c.630A>T (p.Pro210=) c.*2630A>T (n.*2630A>T) | |
| 3 | g.15644769G>A | CA351607483 | BTD | c.853G>A (p.Val285Ile) c.399+2712G>A (n.399+2712G>A) c.165+2712G>A (n.165+2712G>A) c.913G>A (p.Val305Ile) c.919G>A (p.Val307Ile) c.631G>A (p.Val211Ile) c.*2631G>A (n.*2631G>A) | |
| 3 | g.15644769G>C | CA70622298 | BTD | c.853G>C (p.Val285Leu) c.399+2712G>C (n.399+2712G>C) c.165+2712G>C (n.165+2712G>C) c.913G>C (p.Val305Leu) c.919G>C (p.Val307Leu) c.631G>C (p.Val211Leu) c.*2631G>C (n.*2631G>C) | dbSNP |
| 3 | g.15644769G= | CA1347664432 | BTD | c.853G= (p.Val285=) c.399+2712G= (n.399+2712G=) c.165+2712G= (n.165+2712G=) c.913G= (p.Val305=) c.919G= (p.Val307=) c.631G= (p.Val211=) c.*2631G= (n.*2631G=) | |
| 3 | g.15644769G>T | CA351607484 | BTD | c.853G>T (p.Val285Phe) c.399+2712G>T (n.399+2712G>T) c.165+2712G>T (n.165+2712G>T) c.913G>T (p.Val305Phe) c.919G>T (p.Val307Phe) c.631G>T (p.Val211Phe) c.*2631G>T (n.*2631G>T) | |
| 3 | g.15644770T>A | CA351607487 | BTD | c.854T>A (p.Val285Asp) c.399+2713T>A (n.399+2713T>A) c.165+2713T>A (n.165+2713T>A) c.914T>A (p.Val305Asp) c.920T>A (p.Val307Asp) c.632T>A (p.Val211Asp) c.*2632T>A (n.*2632T>A) | |
| 3 | g.15644770T>C | CA351607486 | BTD | c.854T>C (p.Val285Ala) c.399+2713T>C (n.399+2713T>C) c.165+2713T>C (n.165+2713T>C) c.914T>C (p.Val305Ala) c.920T>C (p.Val307Ala) c.632T>C (p.Val211Ala) c.*2632T>C (n.*2632T>C) | |
| 3 | g.15644770T>G | CA351607485 | BTD | c.854T>G (p.Val285Gly) c.399+2713T>G (n.399+2713T>G) c.165+2713T>G (n.165+2713T>G) c.914T>G (p.Val305Gly) c.920T>G (p.Val307Gly) c.632T>G (p.Val211Gly) c.*2632T>G (n.*2632T>G) | |
| 3 | g.15644771T>A | CA432819581 | BTD | c.855T>A (p.Val285=) c.399+2714T>A (n.399+2714T>A) c.165+2714T>A (n.165+2714T>A) c.915T>A (p.Val305=) c.921T>A (p.Val307=) c.633T>A (p.Val211=) c.*2633T>A (n.*2633T>A) | |
| 3 | g.15644771T>C | CA432819582 | BTD | c.855T>C (p.Val285=) c.399+2714T>C (n.399+2714T>C) c.165+2714T>C (n.165+2714T>C) c.915T>C (p.Val305=) c.921T>C (p.Val307=) c.633T>C (p.Val211=) c.*2633T>C (n.*2633T>C) | |
| 3 | g.15644771T>G | CA432819583 | BTD | c.855T>G (p.Val285=) c.399+2714T>G (n.399+2714T>G) c.165+2714T>G (n.165+2714T>G) c.915T>G (p.Val305=) c.921T>G (p.Val307=) c.633T>G (p.Val211=) c.*2633T>G (n.*2633T>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644772C>A | CA351607488 | BTD | c.856C>A (p.Leu286Met) c.399+2715C>A (n.399+2715C>A) c.165+2715C>A (n.165+2715C>A) c.916C>A (p.Leu306Met) c.922C>A (p.Leu308Met) c.634C>A (p.Leu212Met) c.*2634C>A (n.*2634C>A) | gnomAD v4 |
| 3 | g.15644772C>G | CA351607489 | BTD | c.856C>G (p.Leu286Val) c.399+2715C>G (n.399+2715C>G) c.165+2715C>G (n.165+2715C>G) c.916C>G (p.Leu306Val) c.922C>G (p.Leu308Val) c.634C>G (p.Leu212Val) c.*2634C>G (n.*2634C>G) | |
| 3 | g.15644772C>T | CA432819584 | BTD | c.856C>T (p.Leu286=) c.399+2715C>T (n.399+2715C>T) c.165+2715C>T (n.165+2715C>T) c.916C>T (p.Leu306=) c.922C>T (p.Leu308=) c.634C>T (p.Leu212=) c.*2634C>T (n.*2634C>T) | |
| 3 | g.15644773T>A | CA351607490 | BTD | c.857T>A (p.Leu286Gln) c.399+2716T>A (n.399+2716T>A) c.165+2716T>A (n.165+2716T>A) c.917T>A (p.Leu306Gln) c.923T>A (p.Leu308Gln) c.635T>A (p.Leu212Gln) c.*2635T>A (n.*2635T>A) | gnomAD v4 |
| 3 | g.15644773T>C | CA351607491 | BTD | c.857T>C (p.Leu286Pro) c.399+2716T>C (n.399+2716T>C) c.165+2716T>C (n.165+2716T>C) c.917T>C (p.Leu306Pro) c.923T>C (p.Leu308Pro) c.635T>C (p.Leu212Pro) c.*2635T>C (n.*2635T>C) | |
| 3 | g.15644773T>G | CA351607492 | BTD | c.857T>G (p.Leu286Arg) c.399+2716T>G (n.399+2716T>G) c.165+2716T>G (n.165+2716T>G) c.917T>G (p.Leu306Arg) c.923T>G (p.Leu308Arg) c.635T>G (p.Leu212Arg) c.*2635T>G (n.*2635T>G) | |
| 3 | g.15644774G>A | CA2277396 | BTD | c.858G>A (p.Leu286=) c.399+2717G>A (n.399+2717G>A) c.165+2717G>A (n.165+2717G>A) c.918G>A (p.Leu306=) c.924G>A (p.Leu308=) c.636G>A (p.Leu212=) c.*2636G>A (n.*2636G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644774G>C | CA432819589 | BTD | c.858G>C (p.Leu286=) c.399+2717G>C (n.399+2717G>C) c.165+2717G>C (n.165+2717G>C) c.918G>C (p.Leu306=) c.924G>C (p.Leu308=) c.636G>C (p.Leu212=) c.*2636G>C (n.*2636G>C) | |
| 3 | g.15644774G= | CA1347664435 | BTD | c.858G= (p.Leu286=) c.399+2717G= (n.399+2717G=) c.165+2717G= (n.165+2717G=) c.918G= (p.Leu306=) c.924G= (p.Leu308=) c.636G= (p.Leu212=) c.*2636G= (n.*2636G=) | |
| 3 | g.15644774G>T | CA432819588 | BTD | c.858G>T (p.Leu286=) c.399+2717G>T (n.399+2717G>T) c.165+2717G>T (n.165+2717G>T) c.918G>T (p.Leu306=) c.924G>T (p.Leu308=) c.636G>T (p.Leu212=) c.*2636G>T (n.*2636G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644775G>A | CA351607493 | BTD | c.859G>A (p.Gly287Arg) c.399+2718G>A (n.399+2718G>A) c.165+2718G>A (n.165+2718G>A) c.919G>A (p.Gly307Arg) c.925G>A (p.Gly309Arg) c.637G>A (p.Gly213Arg) c.*2637G>A (n.*2637G>A) | gnomAD v4 |
| 3 | g.15644775G>C | CA351607494 | BTD | c.859G>C (p.Gly287Arg) c.399+2718G>C (n.399+2718G>C) c.165+2718G>C (n.165+2718G>C) c.919G>C (p.Gly307Arg) c.925G>C (p.Gly309Arg) c.637G>C (p.Gly213Arg) c.*2637G>C (n.*2637G>C) | |
| 3 | g.15644775G>T | CA351607495 | BTD | c.859G>T (p.Gly287Trp) c.399+2718G>T (n.399+2718G>T) c.165+2718G>T (n.165+2718G>T) c.919G>T (p.Gly307Trp) c.925G>T (p.Gly309Trp) c.637G>T (p.Gly213Trp) c.*2637G>T (n.*2637G>T) | |
| 3 | g.15644776G>A | CA351607496 | BTD | c.860G>A (p.Gly287Glu) c.399+2719G>A (n.399+2719G>A) c.165+2719G>A (n.165+2719G>A) c.920G>A (p.Gly307Glu) c.926G>A (p.Gly309Glu) c.638G>A (p.Gly213Glu) c.*2638G>A (n.*2638G>A) | gnomAD v4 |
| 3 | g.15644776G>C | CA351607497 | BTD | c.860G>C (p.Gly287Ala) c.399+2719G>C (n.399+2719G>C) c.165+2719G>C (n.165+2719G>C) c.920G>C (p.Gly307Ala) c.926G>C (p.Gly309Ala) c.638G>C (p.Gly213Ala) c.*2638G>C (n.*2638G>C) | |
| 3 | g.15644776G>T | CA351607498 | BTD | c.860G>T (p.Gly287Val) c.399+2719G>T (n.399+2719G>T) c.165+2719G>T (n.165+2719G>T) c.920G>T (p.Gly307Val) c.926G>T (p.Gly309Val) c.638G>T (p.Gly213Val) c.*2638G>T (n.*2638G>T) | |
| 3 | g.15644777G>A | CA432819597 | BTD | c.861G>A (p.Gly287=) c.399+2720G>A (n.399+2720G>A) c.165+2720G>A (n.165+2720G>A) c.921G>A (p.Gly307=) c.927G>A (p.Gly309=) c.639G>A (p.Gly213=) c.*2639G>A (n.*2639G>A) | gnomAD v4 |
| 3 | g.15644777G>C | CA432819598 | BTD | c.861G>C (p.Gly287=) c.399+2720G>C (n.399+2720G>C) c.165+2720G>C (n.165+2720G>C) c.921G>C (p.Gly307=) c.927G>C (p.Gly309=) c.639G>C (p.Gly213=) c.*2639G>C (n.*2639G>C) | |
| 3 | g.15644777G= | CA1347664437 | BTD | c.861G= (p.Gly287=) c.399+2720G= (n.399+2720G=) c.165+2720G= (n.165+2720G=) c.921G= (p.Gly307=) c.927G= (p.Gly309=) c.639G= (p.Gly213=) c.*2639G= (n.*2639G=) | |
| 3 | g.15644777G>T | CA432819599 | BTD | c.861G>T (p.Gly287=) c.399+2720G>T (n.399+2720G>T) c.165+2720G>T (n.165+2720G>T) c.921G>T (p.Gly307=) c.927G>T (p.Gly309=) c.639G>T (p.Gly213=) c.*2639G>T (n.*2639G>T) | dbSNP |
| 3 | g.15644778A= | CA1347664443 | BTD | c.862A= (p.Met288=) c.399+2721A= (n.399+2721A=) c.165+2721A= (n.165+2721A=) c.922A= (p.Met308=) c.928A= (p.Met310=) c.640A= (p.Met214=) c.*2640A= (n.*2640A=) | |
| 3 | g.15644778A>C | CA2277398 | BTD | c.862A>C (p.Met288Leu) c.399+2721A>C (n.399+2721A>C) c.165+2721A>C (n.165+2721A>C) c.922A>C (p.Met308Leu) c.928A>C (p.Met310Leu) c.640A>C (p.Met214Leu) c.*2640A>C (n.*2640A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644778A>G | CA2277397 | BTD | c.862A>G (p.Met288Val) c.399+2721A>G (n.399+2721A>G) c.165+2721A>G (n.165+2721A>G) c.922A>G (p.Met308Val) c.928A>G (p.Met310Val) c.640A>G (p.Met214Val) c.*2640A>G (n.*2640A>G) | dbSNP ExAC gnomAD v2 |
| 3 | g.15644778A>T | CA351607499 | BTD | c.862A>T (p.Met288Leu) c.399+2721A>T (n.399+2721A>T) c.165+2721A>T (n.165+2721A>T) c.922A>T (p.Met308Leu) c.928A>T (p.Met310Leu) c.640A>T (p.Met214Leu) c.*2640A>T (n.*2640A>T) | |
| 3 | g.15644779T>A | CA351607500 | BTD | c.863T>A (p.Met288Lys) c.399+2722T>A (n.399+2722T>A) c.165+2722T>A (n.165+2722T>A) c.923T>A (p.Met308Lys) c.929T>A (p.Met310Lys) c.641T>A (p.Met214Lys) c.*2641T>A (n.*2641T>A) | |
| 3 | g.15644779T>C | CA351607501 | BTD | c.863T>C (p.Met288Thr) c.399+2722T>C (n.399+2722T>C) c.165+2722T>C (n.165+2722T>C) c.923T>C (p.Met308Thr) c.929T>C (p.Met310Thr) c.641T>C (p.Met214Thr) c.*2641T>C (n.*2641T>C) | |
| 3 | g.15644779T>G | CA351607502 | BTD | c.863T>G (p.Met288Arg) c.399+2722T>G (n.399+2722T>G) c.165+2722T>G (n.165+2722T>G) c.923T>G (p.Met308Arg) c.929T>G (p.Met310Arg) c.641T>G (p.Met214Arg) c.*2641T>G (n.*2641T>G) | |
| 3 | g.15644780G>A | CA351607503 | BTD | c.864G>A (p.Met288Ile) c.399+2723G>A (n.399+2723G>A) c.165+2723G>A (n.165+2723G>A) c.924G>A (p.Met308Ile) c.930G>A (p.Met310Ile) c.642G>A (p.Met214Ile) c.*2642G>A (n.*2642G>A) | gnomAD v4 |
| 3 | g.15644780G>C | CA351607504 | BTD | c.864G>C (p.Met288Ile) c.399+2723G>C (n.399+2723G>C) c.165+2723G>C (n.165+2723G>C) c.924G>C (p.Met308Ile) c.930G>C (p.Met310Ile) c.642G>C (p.Met214Ile) c.*2642G>C (n.*2642G>C) | |
| 3 | g.15644780G>T | CA351607505 | BTD | c.864G>T (p.Met288Ile) c.399+2723G>T (n.399+2723G>T) c.165+2723G>T (n.165+2723G>T) c.924G>T (p.Met308Ile) c.930G>T (p.Met310Ile) c.642G>T (p.Met214Ile) c.*2642G>T (n.*2642G>T) | |
| 3 | g.15644781A>C | CA351607508 | BTD | c.865A>C (p.Thr289Pro) c.399+2724A>C (n.399+2724A>C) c.165+2724A>C (n.165+2724A>C) c.925A>C (p.Thr309Pro) c.931A>C (p.Thr311Pro) c.643A>C (p.Thr215Pro) c.*2643A>C (n.*2643A>C) | |
| 3 | g.15644781A>G | CA351607507 | BTD | c.865A>G (p.Thr289Ala) c.399+2724A>G (n.399+2724A>G) c.165+2724A>G (n.165+2724A>G) c.925A>G (p.Thr309Ala) c.931A>G (p.Thr311Ala) c.643A>G (p.Thr215Ala) c.*2643A>G (n.*2643A>G) | |
| 3 | g.15644781A>T | CA351607506 | BTD | c.865A>T (p.Thr289Ser) c.399+2724A>T (n.399+2724A>T) c.165+2724A>T (n.165+2724A>T) c.925A>T (p.Thr309Ser) c.931A>T (p.Thr311Ser) c.643A>T (p.Thr215Ser) c.*2643A>T (n.*2643A>T) | |
| 3 | g.15644782C>A | CA351607509 | BTD | c.866C>A (p.Thr289Lys) c.399+2725C>A (n.399+2725C>A) c.165+2725C>A (n.165+2725C>A) c.926C>A (p.Thr309Lys) c.932C>A (p.Thr311Lys) c.644C>A (p.Thr215Lys) c.*2644C>A (n.*2644C>A) | |
| 3 | g.15644782C>G | CA351607510 | BTD | c.866C>G (p.Thr289Arg) c.399+2725C>G (n.399+2725C>G) c.165+2725C>G (n.165+2725C>G) c.926C>G (p.Thr309Arg) c.932C>G (p.Thr311Arg) c.644C>G (p.Thr215Arg) c.*2644C>G (n.*2644C>G) | |
| 3 | g.15644782C>T | CA351607511 | BTD | c.866C>T (p.Thr289Ile) c.399+2725C>T (n.399+2725C>T) c.165+2725C>T (n.165+2725C>T) c.926C>T (p.Thr309Ile) c.932C>T (p.Thr311Ile) c.644C>T (p.Thr215Ile) c.*2644C>T (n.*2644C>T) | |
| 3 | g.15644783A= | CA1347664449 | BTD | c.867A= (p.Thr289=) c.399+2726A= (n.399+2726A=) c.165+2726A= (n.165+2726A=) c.927A= (p.Thr309=) c.933A= (p.Thr311=) c.645A= (p.Thr215=) c.*2645A= (n.*2645A=) | |
| 3 | g.15644783A>C | CA432819604 | BTD | c.867A>C (p.Thr289=) c.399+2726A>C (n.399+2726A>C) c.165+2726A>C (n.165+2726A>C) c.927A>C (p.Thr309=) c.933A>C (p.Thr311=) c.645A>C (p.Thr215=) c.*2645A>C (n.*2645A>C) | |
| 3 | g.15644783A>G | CA70622307 | BTD | c.867A>G (p.Thr289=) c.399+2726A>G (n.399+2726A>G) c.165+2726A>G (n.165+2726A>G) c.927A>G (p.Thr309=) c.933A>G (p.Thr311=) c.645A>G (p.Thr215=) c.*2645A>G (n.*2645A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644783A>T | CA432819605 | BTD | c.867A>T (p.Thr289=) c.399+2726A>T (n.399+2726A>T) c.165+2726A>T (n.165+2726A>T) c.927A>T (p.Thr309=) c.933A>T (p.Thr311=) c.645A>T (p.Thr215=) c.*2645A>T (n.*2645A>T) | |
| 3 | g.15644784G>A | CA351607512 | BTD | c.868G>A (p.Gly290Arg) c.399+2727G>A (n.399+2727G>A) c.165+2727G>A (n.165+2727G>A) c.928G>A (p.Gly310Arg) c.934G>A (p.Gly312Arg) c.646G>A (p.Gly216Arg) c.*2646G>A (n.*2646G>A) | |
| 3 | g.15644784G>C | CA351607513 | BTD | c.868G>C (p.Gly290Arg) c.399+2727G>C (n.399+2727G>C) c.165+2727G>C (n.165+2727G>C) c.928G>C (p.Gly310Arg) c.934G>C (p.Gly312Arg) c.646G>C (p.Gly216Arg) c.*2646G>C (n.*2646G>C) | |
| 3 | g.15644784G>T | CA351607514 | BTD | c.868G>T (p.Gly290Ter) c.399+2727G>T (n.399+2727G>T) c.165+2727G>T (n.165+2727G>T) c.928G>T (p.Gly310Ter) c.934G>T (p.Gly312Ter) c.646G>T (p.Gly216Ter) c.*2646G>T (n.*2646G>T) | |
| 3 | g.15644785G>A | CA278276 | BTD | c.869G>A (p.Gly290Glu) c.399+2728G>A (n.399+2728G>A) c.165+2728G>A (n.165+2728G>A) c.929G>A (p.Gly310Glu) c.935G>A (p.Gly312Glu) c.647G>A (p.Gly216Glu) c.*2647G>A (n.*2647G>A) | ClinVar dbSNP |
| 3 | g.15644785G>C | CA351607516 | BTD | c.869G>C (p.Gly290Ala) c.399+2728G>C (n.399+2728G>C) c.165+2728G>C (n.165+2728G>C) c.929G>C (p.Gly310Ala) c.935G>C (p.Gly312Ala) c.647G>C (p.Gly216Ala) c.*2647G>C (n.*2647G>C) | |
| 3 | g.15644785G= | CA1347664455 | BTD | c.869G= (p.Gly290=) c.399+2728G= (n.399+2728G=) c.165+2728G= (n.165+2728G=) c.929G= (p.Gly310=) c.935G= (p.Gly312=) c.647G= (p.Gly216=) c.*2647G= (n.*2647G=) | |
| 3 | g.15644785G>T | CA351607515 | BTD | c.869G>T (p.Gly290Val) c.399+2728G>T (n.399+2728G>T) c.165+2728G>T (n.165+2728G>T) c.929G>T (p.Gly310Val) c.935G>T (p.Gly312Val) c.647G>T (p.Gly216Val) c.*2647G>T (n.*2647G>T) | |
| 3 | g.15644786A>C | CA432819610 | BTD | c.870A>C (p.Gly290=) c.399+2729A>C (n.399+2729A>C) c.165+2729A>C (n.165+2729A>C) c.930A>C (p.Gly310=) c.936A>C (p.Gly312=) c.648A>C (p.Gly216=) c.*2648A>C (n.*2648A>C) | |
| 3 | g.15644786A>G | CA432819609 | BTD | c.870A>G (p.Gly290=) c.399+2729A>G (n.399+2729A>G) c.165+2729A>G (n.165+2729A>G) c.930A>G (p.Gly310=) c.936A>G (p.Gly312=) c.648A>G (p.Gly216=) c.*2648A>G (n.*2648A>G) | |
| 3 | g.15644786A>T | CA432819608 | BTD | c.870A>T (p.Gly290=) c.399+2729A>T (n.399+2729A>T) c.165+2729A>T (n.165+2729A>T) c.930A>T (p.Gly310=) c.936A>T (p.Gly312=) c.648A>T (p.Gly216=) c.*2648A>T (n.*2648A>T) | ClinVar gnomAD v4 |
| 3 | g.15644787A>C | CA351607517 | BTD | c.871A>C (p.Ser291Arg) c.399+2730A>C (n.399+2730A>C) c.165+2730A>C (n.165+2730A>C) c.931A>C (p.Ser311Arg) c.937A>C (p.Ser313Arg) c.649A>C (p.Ser217Arg) c.*2649A>C (n.*2649A>C) | |
| 3 | g.15644787A>G | CA351607518 | BTD | c.871A>G (p.Ser291Gly) c.399+2730A>G (n.399+2730A>G) c.165+2730A>G (n.165+2730A>G) c.931A>G (p.Ser311Gly) c.937A>G (p.Ser313Gly) c.649A>G (p.Ser217Gly) c.*2649A>G (n.*2649A>G) | |
| 3 | g.15644787A>T | CA351607519 | BTD | c.871A>T (p.Ser291Cys) c.399+2730A>T (n.399+2730A>T) c.165+2730A>T (n.165+2730A>T) c.931A>T (p.Ser311Cys) c.937A>T (p.Ser313Cys) c.649A>T (p.Ser217Cys) c.*2649A>T (n.*2649A>T) | |
| 3 | g.15644788G>A | CA278278 | BTD | c.872G>A (p.Ser291Asn) c.399+2731G>A (n.399+2731G>A) c.165+2731G>A (n.165+2731G>A) c.932G>A (p.Ser311Asn) c.938G>A (p.Ser313Asn) c.650G>A (p.Ser217Asn) c.*2650G>A (n.*2650G>A) | dbSNP |
| 3 | g.15644788G>C | CA351607520 | BTD | c.872G>C (p.Ser291Thr) c.399+2731G>C (n.399+2731G>C) c.165+2731G>C (n.165+2731G>C) c.932G>C (p.Ser311Thr) c.938G>C (p.Ser313Thr) c.650G>C (p.Ser217Thr) c.*2650G>C (n.*2650G>C) | gnomAD v4 |
| 3 | g.15644788G= | CA1347664461 | BTD | c.872G= (p.Ser291=) c.399+2731G= (n.399+2731G=) c.165+2731G= (n.165+2731G=) c.932G= (p.Ser311=) c.938G= (p.Ser313=) c.650G= (p.Ser217=) c.*2650G= (n.*2650G=) | |
| 3 | g.15644788G>T | CA351607521 | BTD | c.872G>T (p.Ser291Ile) c.399+2731G>T (n.399+2731G>T) c.165+2731G>T (n.165+2731G>T) c.932G>T (p.Ser311Ile) c.938G>T (p.Ser313Ile) c.650G>T (p.Ser217Ile) c.*2650G>T (n.*2650G>T) | |
| 3 | g.15644788_15644789delinsGT | CA1347664464 | BTD | c.872_873delinsGT (p.Ser291=) c.399+2731_399+2732delinsGT (n.399+2731_399+2732delinsGT) c.165+2731_165+2732delinsGT (n.165+2731_165+2732delinsGT) c.932_933delinsGT (p.Ser311=) c.938_939delinsGT (p.Ser313=) c.650_651delinsGT (p.Ser217=) c.*2650_*2651delinsGT (n.*2650_*2651delinsGT) | |
| 3 | g.15644789del | CA278280 | BTD | c.873del (p.Ser291ArgfsTer23) c.399+2732del (n.399+2732del) c.165+2732del (n.165+2732del) c.933del (p.Ser311ArgfsTer23) c.939del (p.Ser313ArgfsTer23) c.651del (p.Ser217ArgfsTer23) c.*2651del (n.*2651del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644789T>A | CA351607522 | BTD | c.873T>A (p.Ser291Arg) c.399+2732T>A (n.399+2732T>A) c.165+2732T>A (n.165+2732T>A) c.933T>A (p.Ser311Arg) c.939T>A (p.Ser313Arg) c.651T>A (p.Ser217Arg) c.*2651T>A (n.*2651T>A) | |
| 3 | g.15644789T>C | CA432819618 | BTD | c.873T>C (p.Ser291=) c.399+2732T>C (n.399+2732T>C) c.165+2732T>C (n.165+2732T>C) c.933T>C (p.Ser311=) c.939T>C (p.Ser313=) c.651T>C (p.Ser217=) c.*2651T>C (n.*2651T>C) | |
| 3 | g.15644789T>G | CA278281 | BTD | c.873T>G (p.Ser291Arg) c.399+2732T>G (n.399+2732T>G) c.165+2732T>G (n.165+2732T>G) c.933T>G (p.Ser311Arg) c.939T>G (p.Ser313Arg) c.651T>G (p.Ser217Arg) c.*2651T>G (n.*2651T>G) | dbSNP |
| 3 | g.15644789T= | CA1347664473 | BTD | c.873T= (p.Ser291=) c.399+2732T= (n.399+2732T=) c.165+2732T= (n.165+2732T=) c.933T= (p.Ser311=) c.939T= (p.Ser313=) c.651T= (p.Ser217=) c.*2651T= (n.*2651T=) | |
| 3 | g.15644790G>A | CA278283 | BTD | c.874G>A (p.Gly292Ser) c.399+2733G>A (n.399+2733G>A) c.165+2733G>A (n.165+2733G>A) c.934G>A (p.Gly312Ser) c.940G>A (p.Gly314Ser) c.652G>A (p.Gly218Ser) c.*2652G>A (n.*2652G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644790G>C | CA351607523 | BTD | c.874G>C (p.Gly292Arg) c.399+2733G>C (n.399+2733G>C) c.165+2733G>C (n.165+2733G>C) c.934G>C (p.Gly312Arg) c.940G>C (p.Gly314Arg) c.652G>C (p.Gly218Arg) c.*2652G>C (n.*2652G>C) | |
| 3 | g.15644790G= | CA1347664477 | BTD | c.874G= (p.Gly292=) c.399+2733G= (n.399+2733G=) c.165+2733G= (n.165+2733G=) c.934G= (p.Gly312=) c.940G= (p.Gly314=) c.652G= (p.Gly218=) c.*2652G= (n.*2652G=) | |
| 3 | g.15644790G>T | CA351607524 | BTD | c.874G>T (p.Gly292Cys) c.399+2733G>T (n.399+2733G>T) c.165+2733G>T (n.165+2733G>T) c.934G>T (p.Gly312Cys) c.940G>T (p.Gly314Cys) c.652G>T (p.Gly218Cys) c.*2652G>T (n.*2652G>T) | |
| 3 | g.15644791G>A | CA278285 | BTD | c.875G>A (p.Gly292Asp) c.399+2734G>A (n.399+2734G>A) c.165+2734G>A (n.165+2734G>A) c.935G>A (p.Gly312Asp) c.941G>A (p.Gly314Asp) c.653G>A (p.Gly218Asp) c.*2653G>A (n.*2653G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644791G>C | CA351607525 | BTD | c.875G>C (p.Gly292Ala) c.399+2734G>C (n.399+2734G>C) c.165+2734G>C (n.165+2734G>C) c.935G>C (p.Gly312Ala) c.941G>C (p.Gly314Ala) c.653G>C (p.Gly218Ala) c.*2653G>C (n.*2653G>C) | |
| 3 | g.15644791G= | CA1347664482 | BTD | c.875G= (p.Gly292=) c.399+2734G= (n.399+2734G=) c.165+2734G= (n.165+2734G=) c.935G= (p.Gly312=) c.941G= (p.Gly314=) c.653G= (p.Gly218=) c.*2653G= (n.*2653G=) | |
| 3 | g.15644791G>T | CA351607526 | BTD | c.875G>T (p.Gly292Val) c.399+2734G>T (n.399+2734G>T) c.165+2734G>T (n.165+2734G>T) c.935G>T (p.Gly312Val) c.941G>T (p.Gly314Val) c.653G>T (p.Gly218Val) c.*2653G>T (n.*2653G>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644792C>A | CA432819625 | BTD | c.876C>A (p.Gly292=) c.399+2735C>A (n.399+2735C>A) c.165+2735C>A (n.165+2735C>A) c.936C>A (p.Gly312=) c.942C>A (p.Gly314=) c.654C>A (p.Gly218=) c.*2654C>A (n.*2654C>A) | ClinVar |
| 3 | g.15644792C>G | CA432819626 | BTD | c.876C>G (p.Gly292=) c.399+2735C>G (n.399+2735C>G) c.165+2735C>G (n.165+2735C>G) c.936C>G (p.Gly312=) c.942C>G (p.Gly314=) c.654C>G (p.Gly218=) c.*2654C>G (n.*2654C>G) | |
| 3 | g.15644792C>T | CA432819627 | BTD | c.876C>T (p.Gly292=) c.399+2735C>T (n.399+2735C>T) c.165+2735C>T (n.165+2735C>T) c.936C>T (p.Gly312=) c.942C>T (p.Gly314=) c.654C>T (p.Gly218=) c.*2654C>T (n.*2654C>T) | |
| 3 | g.15644793A>C | CA351607527 | BTD | c.877A>C (p.Ile293Leu) c.399+2736A>C (n.399+2736A>C) c.165+2736A>C (n.165+2736A>C) c.937A>C (p.Ile313Leu) c.943A>C (p.Ile315Leu) c.655A>C (p.Ile219Leu) c.*2655A>C (n.*2655A>C) | |
| 3 | g.15644793A>G | CA351607528 | BTD | c.877A>G (p.Ile293Val) c.399+2736A>G (n.399+2736A>G) c.165+2736A>G (n.165+2736A>G) c.937A>G (p.Ile313Val) c.943A>G (p.Ile315Val) c.655A>G (p.Ile219Val) c.*2655A>G (n.*2655A>G) | |
| 3 | g.15644793A>T | CA351607529 | BTD | c.877A>T (p.Ile293Leu) c.399+2736A>T (n.399+2736A>T) c.165+2736A>T (n.165+2736A>T) c.937A>T (p.Ile313Leu) c.943A>T (p.Ile315Leu) c.655A>T (p.Ile219Leu) c.*2655A>T (n.*2655A>T) | |
| 3 | g.15644794T>A | CA351607530 | BTD | c.878T>A (p.Ile293Lys) c.399+2737T>A (n.399+2737T>A) c.165+2737T>A (n.165+2737T>A) c.938T>A (p.Ile313Lys) c.944T>A (p.Ile315Lys) c.656T>A (p.Ile219Lys) c.*2656T>A (n.*2656T>A) | |
| 3 | g.15644794T>C | CA351607531 | BTD | c.878T>C (p.Ile293Thr) c.399+2737T>C (n.399+2737T>C) c.165+2737T>C (n.165+2737T>C) c.938T>C (p.Ile313Thr) c.944T>C (p.Ile315Thr) c.656T>C (p.Ile219Thr) c.*2656T>C (n.*2656T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644794T>G | CA351607532 | BTD | c.878T>G (p.Ile293Arg) c.399+2737T>G (n.399+2737T>G) c.165+2737T>G (n.165+2737T>G) c.938T>G (p.Ile313Arg) c.944T>G (p.Ile315Arg) c.656T>G (p.Ile219Arg) c.*2656T>G (n.*2656T>G) | |
| 3 | g.15644794T= | CA1347664488 | BTD | c.878T= (p.Ile293=) c.399+2737T= (n.399+2737T=) c.165+2737T= (n.165+2737T=) c.938T= (p.Ile313=) c.944T= (p.Ile315=) c.656T= (p.Ile219=) c.*2656T= (n.*2656T=) | |
| 3 | g.15644794dup | CA2586971765 | BTD | c.878dup (p.His294ThrfsTer11) c.399+2737dup (n.399+2737dup) c.165+2737dup (n.165+2737dup) c.938dup (p.His314ThrfsTer11) c.944dup (p.His316ThrfsTer11) c.656dup (p.His220ThrfsTer11) c.*2656dup (n.*2656dup) | |
| 3 | g.15644795A>C | CA432819631 | BTD | c.879A>C (p.Ile293=) c.399+2738A>C (n.399+2738A>C) c.165+2738A>C (n.165+2738A>C) c.939A>C (p.Ile313=) c.945A>C (p.Ile315=) c.657A>C (p.Ile219=) c.*2657A>C (n.*2657A>C) | |
| 3 | g.15644795A>G | CA351607533 | BTD | c.879A>G (p.Ile293Met) c.399+2738A>G (n.399+2738A>G) c.165+2738A>G (n.165+2738A>G) c.939A>G (p.Ile313Met) c.945A>G (p.Ile315Met) c.657A>G (p.Ile219Met) c.*2657A>G (n.*2657A>G) | |
| 3 | g.15644795A>T | CA432819630 | BTD | c.879A>T (p.Ile293=) c.399+2738A>T (n.399+2738A>T) c.165+2738A>T (n.165+2738A>T) c.939A>T (p.Ile313=) c.945A>T (p.Ile315=) c.657A>T (p.Ile219=) c.*2657A>T (n.*2657A>T) | |
| 3 | g.15644796C>A | CA351607536 | BTD | c.880C>A (p.His294Asn) c.399+2739C>A (n.399+2739C>A) c.165+2739C>A (n.165+2739C>A) c.940C>A (p.His314Asn) c.946C>A (p.His316Asn) c.658C>A (p.His220Asn) c.*2658C>A (n.*2658C>A) | |
| 3 | g.15644796C>G | CA351607534 | BTD | c.880C>G (p.His294Asp) c.399+2739C>G (n.399+2739C>G) c.165+2739C>G (n.165+2739C>G) c.940C>G (p.His314Asp) c.946C>G (p.His316Asp) c.658C>G (p.His220Asp) c.*2658C>G (n.*2658C>G) | |
| 3 | g.15644796C>T | CA351607535 | BTD | c.880C>T (p.His294Tyr) c.399+2739C>T (n.399+2739C>T) c.165+2739C>T (n.165+2739C>T) c.940C>T (p.His314Tyr) c.946C>T (p.His316Tyr) c.658C>T (p.His220Tyr) c.*2658C>T (n.*2658C>T) | gnomAD v4 |
| 3 | g.15644797A= | CA1347664492 | BTD | c.881A= (p.His294=) c.399+2740A= (n.399+2740A=) c.165+2740A= (n.165+2740A=) c.941A= (p.His314=) c.947A= (p.His316=) c.659A= (p.His220=) c.*2659A= (n.*2659A=) | |
| 3 | g.15644797A>C | CA351607537 | BTD | c.881A>C (p.His294Pro) c.399+2740A>C (n.399+2740A>C) c.165+2740A>C (n.165+2740A>C) c.941A>C (p.His314Pro) c.947A>C (p.His316Pro) c.659A>C (p.His220Pro) c.*2659A>C (n.*2659A>C) | |
| 3 | g.15644797A>G | CA351607538 | BTD | c.881A>G (p.His294Arg) c.399+2740A>G (n.399+2740A>G) c.165+2740A>G (n.165+2740A>G) c.941A>G (p.His314Arg) c.947A>G (p.His316Arg) c.659A>G (p.His220Arg) c.*2659A>G (n.*2659A>G) | ClinVar dbSNP |
| 3 | g.15644797A>T | CA351607539 | BTD | c.881A>T (p.His294Leu) c.399+2740A>T (n.399+2740A>T) c.165+2740A>T (n.165+2740A>T) c.941A>T (p.His314Leu) c.947A>T (p.His316Leu) c.659A>T (p.His220Leu) c.*2659A>T (n.*2659A>T) | ClinVar |
| 3 | g.15644798C>A | CA351607540 | BTD | c.882C>A (p.His294Gln) c.399+2741C>A (n.399+2741C>A) c.165+2741C>A (n.165+2741C>A) c.942C>A (p.His314Gln) c.948C>A (p.His316Gln) c.660C>A (p.His220Gln) c.*2660C>A (n.*2660C>A) | |
| 3 | g.15644798C= | CA1347664498 | BTD | c.882C= (p.His294=) c.399+2741C= (n.399+2741C=) c.165+2741C= (n.165+2741C=) c.942C= (p.His314=) c.948C= (p.His316=) c.660C= (p.His220=) c.*2660C= (n.*2660C=) | |
| 3 | g.15644798C>G | CA351607541 | BTD | c.882C>G (p.His294Gln) c.399+2741C>G (n.399+2741C>G) c.165+2741C>G (n.165+2741C>G) c.942C>G (p.His314Gln) c.948C>G (p.His316Gln) c.660C>G (p.His220Gln) c.*2660C>G (n.*2660C>G) | dbSNP |
| 3 | g.15644798C>T | CA432819638 | BTD | c.882C>T (p.His294=) c.399+2741C>T (n.399+2741C>T) c.165+2741C>T (n.165+2741C>T) c.942C>T (p.His314=) c.948C>T (p.His316=) c.660C>T (p.His220=) c.*2660C>T (n.*2660C>T) | |
| 3 | g.15644799A>C | CA351607542 | BTD | c.883A>C (p.Thr295Pro) c.399+2742A>C (n.399+2742A>C) c.165+2742A>C (n.165+2742A>C) c.943A>C (p.Thr315Pro) c.949A>C (p.Thr317Pro) c.661A>C (p.Thr221Pro) c.*2661A>C (n.*2661A>C) | |
| 3 | g.15644799A>G | CA351607544 | BTD | c.883A>G (p.Thr295Ala) c.399+2742A>G (n.399+2742A>G) c.165+2742A>G (n.165+2742A>G) c.943A>G (p.Thr315Ala) c.949A>G (p.Thr317Ala) c.661A>G (p.Thr221Ala) c.*2661A>G (n.*2661A>G) | |
| 3 | g.15644799A>T | CA351607543 | BTD | c.883A>T (p.Thr295Ser) c.399+2742A>T (n.399+2742A>T) c.165+2742A>T (n.165+2742A>T) c.943A>T (p.Thr315Ser) c.949A>T (p.Thr317Ser) c.661A>T (p.Thr221Ser) c.*2661A>T (n.*2661A>T) | |
| 3 | g.15644800C>A | CA351607545 | BTD | c.884C>A (p.Thr295Asn) c.399+2743C>A (n.399+2743C>A) c.165+2743C>A (n.165+2743C>A) c.944C>A (p.Thr315Asn) c.950C>A (p.Thr317Asn) c.662C>A (p.Thr221Asn) c.*2662C>A (n.*2662C>A) | |
| 3 | g.15644800C>G | CA351607546 | BTD | c.884C>G (p.Thr295Ser) c.399+2743C>G (n.399+2743C>G) c.165+2743C>G (n.165+2743C>G) c.944C>G (p.Thr315Ser) c.950C>G (p.Thr317Ser) c.662C>G (p.Thr221Ser) c.*2662C>G (n.*2662C>G) | |
| 3 | g.15644800C>T | CA351607547 | BTD | c.884C>T (p.Thr295Ile) c.399+2743C>T (n.399+2743C>T) c.165+2743C>T (n.165+2743C>T) c.944C>T (p.Thr315Ile) c.950C>T (p.Thr317Ile) c.662C>T (p.Thr221Ile) c.*2662C>T (n.*2662C>T) | gnomAD v4 |
| 3 | g.15644801C>A | CA432819641 | BTD | c.885C>A (p.Thr295=) c.399+2744C>A (n.399+2744C>A) c.165+2744C>A (n.165+2744C>A) c.945C>A (p.Thr315=) c.951C>A (p.Thr317=) c.663C>A (p.Thr221=) c.*2663C>A (n.*2663C>A) | |
| 3 | g.15644801C>G | CA432819643 | BTD | c.885C>G (p.Thr295=) c.399+2744C>G (n.399+2744C>G) c.165+2744C>G (n.165+2744C>G) c.945C>G (p.Thr315=) c.951C>G (p.Thr317=) c.663C>G (p.Thr221=) c.*2663C>G (n.*2663C>G) | |
| 3 | g.15644801C>T | CA432819644 | BTD | c.885C>T (p.Thr295=) c.399+2744C>T (n.399+2744C>T) c.165+2744C>T (n.165+2744C>T) c.945C>T (p.Thr315=) c.951C>T (p.Thr317=) c.663C>T (p.Thr221=) c.*2663C>T (n.*2663C>T) | |
| 3 | g.15644802C>A | CA351607548 | BTD | c.886C>A (p.Pro296Thr) c.399+2745C>A (n.399+2745C>A) c.165+2745C>A (n.165+2745C>A) c.946C>A (p.Pro316Thr) c.952C>A (p.Pro318Thr) c.664C>A (p.Pro222Thr) c.*2664C>A (n.*2664C>A) | ClinVar dbSNP |
| 3 | g.15644802C= | CA1347664500 | BTD | c.886C= (p.Pro296=) c.399+2745C= (n.399+2745C=) c.165+2745C= (n.165+2745C=) c.946C= (p.Pro316=) c.952C= (p.Pro318=) c.664C= (p.Pro222=) c.*2664C= (n.*2664C=) | |
| 3 | g.15644802C>G | CA351607549 | BTD | c.886C>G (p.Pro296Ala) c.399+2745C>G (n.399+2745C>G) c.165+2745C>G (n.165+2745C>G) c.946C>G (p.Pro316Ala) c.952C>G (p.Pro318Ala) c.664C>G (p.Pro222Ala) c.*2664C>G (n.*2664C>G) | |
| 3 | g.15644802C>T | CA351607550 | BTD | c.886C>T (p.Pro296Ser) c.399+2745C>T (n.399+2745C>T) c.165+2745C>T (n.165+2745C>T) c.946C>T (p.Pro316Ser) c.952C>T (p.Pro318Ser) c.664C>T (p.Pro222Ser) c.*2664C>T (n.*2664C>T) | gnomAD v4 |
| 3 | g.15644803C>A | CA351607551 | BTD | c.887C>A (p.Pro296His) c.399+2746C>A (n.399+2746C>A) c.165+2746C>A (n.165+2746C>A) c.947C>A (p.Pro316His) c.953C>A (p.Pro318His) c.665C>A (p.Pro222His) c.*2665C>A (n.*2665C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644803C= | CA1347664503 | BTD | c.887C= (p.Pro296=) c.399+2746C= (n.399+2746C=) c.165+2746C= (n.165+2746C=) c.947C= (p.Pro316=) c.953C= (p.Pro318=) c.665C= (p.Pro222=) c.*2665C= (n.*2665C=) | |
| 3 | g.15644803C>G | CA351607552 | BTD | c.887C>G (p.Pro296Arg) c.399+2746C>G (n.399+2746C>G) c.165+2746C>G (n.165+2746C>G) c.947C>G (p.Pro316Arg) c.953C>G (p.Pro318Arg) c.665C>G (p.Pro222Arg) c.*2665C>G (n.*2665C>G) | |
| 3 | g.15644803C>T | CA351607553 | BTD | c.887C>T (p.Pro296Leu) c.399+2746C>T (n.399+2746C>T) c.165+2746C>T (n.165+2746C>T) c.947C>T (p.Pro316Leu) c.953C>T (p.Pro318Leu) c.665C>T (p.Pro222Leu) c.*2665C>T (n.*2665C>T) | gnomAD v4 |
| 3 | g.15644804T>A | CA432819084 | BTD | c.888T>A (p.Pro296=) c.399+2747T>A (n.399+2747T>A) c.165+2747T>A (n.165+2747T>A) c.948T>A (p.Pro316=) c.954T>A (p.Pro318=) c.666T>A (p.Pro222=) c.*2666T>A (n.*2666T>A) | |
| 3 | g.15644804T>C | CA432819086 | BTD | c.888T>C (p.Pro296=) c.399+2747T>C (n.399+2747T>C) c.165+2747T>C (n.165+2747T>C) c.948T>C (p.Pro316=) c.954T>C (p.Pro318=) c.666T>C (p.Pro222=) c.*2666T>C (n.*2666T>C) | dbSNP gnomAD v2 |
| 3 | g.15644804T>G | CA432819087 | BTD | c.888T>G (p.Pro296=) c.399+2747T>G (n.399+2747T>G) c.165+2747T>G (n.165+2747T>G) c.948T>G (p.Pro316=) c.954T>G (p.Pro318=) c.666T>G (p.Pro222=) c.*2666T>G (n.*2666T>G) | |
| 3 | g.15644804T= | CA1347664505 | BTD | c.888T= (p.Pro296=) c.399+2747T= (n.399+2747T=) c.165+2747T= (n.165+2747T=) c.948T= (p.Pro316=) c.954T= (p.Pro318=) c.666T= (p.Pro222=) c.*2666T= (n.*2666T=) | |
| 3 | g.15644805C>A | CA351607554 | BTD | c.889C>A (p.Leu297Met) c.399+2748C>A (n.399+2748C>A) c.165+2748C>A (n.165+2748C>A) c.949C>A (p.Leu317Met) c.955C>A (p.Leu319Met) c.667C>A (p.Leu223Met) c.*2667C>A (n.*2667C>A) | |
| 3 | g.15644805C>G | CA351607555 | BTD | c.889C>G (p.Leu297Val) c.399+2748C>G (n.399+2748C>G) c.165+2748C>G (n.165+2748C>G) c.949C>G (p.Leu317Val) c.955C>G (p.Leu319Val) c.667C>G (p.Leu223Val) c.*2667C>G (n.*2667C>G) | |
| 3 | g.15644805C>T | CA432819090 | BTD | c.889C>T (p.Leu297=) c.399+2748C>T (n.399+2748C>T) c.165+2748C>T (n.165+2748C>T) c.949C>T (p.Leu317=) c.955C>T (p.Leu319=) c.667C>T (p.Leu223=) c.*2667C>T (n.*2667C>T) | |
| 3 | g.15644806T>A | CA70622349 | BTD | c.890T>A (p.Leu297Gln) c.399+2749T>A (n.399+2749T>A) c.165+2749T>A (n.165+2749T>A) c.950T>A (p.Leu317Gln) c.956T>A (p.Leu319Gln) c.668T>A (p.Leu223Gln) c.*2668T>A (n.*2668T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644806T>C | CA351607557 | BTD | c.890T>C (p.Leu297Pro) c.399+2749T>C (n.399+2749T>C) c.165+2749T>C (n.165+2749T>C) c.950T>C (p.Leu317Pro) c.956T>C (p.Leu319Pro) c.668T>C (p.Leu223Pro) c.*2668T>C (n.*2668T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644806T>G | CA351607556 | BTD | c.890T>G (p.Leu297Arg) c.399+2749T>G (n.399+2749T>G) c.165+2749T>G (n.165+2749T>G) c.950T>G (p.Leu317Arg) c.956T>G (p.Leu319Arg) c.668T>G (p.Leu223Arg) c.*2668T>G (n.*2668T>G) | |
| 3 | g.15644806T= | CA1347664508 | BTD | c.890T= (p.Leu297=) c.399+2749T= (n.399+2749T=) c.165+2749T= (n.165+2749T=) c.950T= (p.Leu317=) c.956T= (p.Leu319=) c.668T= (p.Leu223=) c.*2668T= (n.*2668T=) | |
| 3 | g.15644807G>A | CA432819091 | BTD | c.891G>A (p.Leu297=) c.399+2750G>A (n.399+2750G>A) c.165+2750G>A (n.165+2750G>A) c.951G>A (p.Leu317=) c.957G>A (p.Leu319=) c.669G>A (p.Leu223=) c.*2669G>A (n.*2669G>A) | |
| 3 | g.15644807G>C | CA432819094 | BTD | c.891G>C (p.Leu297=) c.399+2750G>C (n.399+2750G>C) c.165+2750G>C (n.165+2750G>C) c.951G>C (p.Leu317=) c.957G>C (p.Leu319=) c.669G>C (p.Leu223=) c.*2669G>C (n.*2669G>C) | |
| 3 | g.15644807G>T | CA432819095 | BTD | c.891G>T (p.Leu297=) c.399+2750G>T (n.399+2750G>T) c.165+2750G>T (n.165+2750G>T) c.951G>T (p.Leu317=) c.957G>T (p.Leu319=) c.669G>T (p.Leu223=) c.*2669G>T (n.*2669G>T) | |
| 3 | g.15644808G>A | CA351607558 | BTD | c.892G>A (p.Glu298Lys) c.399+2751G>A (n.399+2751G>A) c.165+2751G>A (n.165+2751G>A) c.952G>A (p.Glu318Lys) c.958G>A (p.Glu320Lys) c.670G>A (p.Glu224Lys) c.*2670G>A (n.*2670G>A) | |
| 3 | g.15644808G>C | CA351607560 | BTD | c.892G>C (p.Glu298Gln) c.399+2751G>C (n.399+2751G>C) c.165+2751G>C (n.165+2751G>C) c.952G>C (p.Glu318Gln) c.958G>C (p.Glu320Gln) c.670G>C (p.Glu224Gln) c.*2670G>C (n.*2670G>C) | |
| 3 | g.15644808G>T | CA351607559 | BTD | c.892G>T (p.Glu298Ter) c.399+2751G>T (n.399+2751G>T) c.165+2751G>T (n.165+2751G>T) c.952G>T (p.Glu318Ter) c.958G>T (p.Glu320Ter) c.670G>T (p.Glu224Ter) c.*2670G>T (n.*2670G>T) | |
| 3 | g.15644809A>C | CA351607561 | BTD | c.893A>C (p.Glu298Ala) c.399+2752A>C (n.399+2752A>C) c.165+2752A>C (n.165+2752A>C) c.953A>C (p.Glu318Ala) c.959A>C (p.Glu320Ala) c.671A>C (p.Glu224Ala) c.*2671A>C (n.*2671A>C) | |
| 3 | g.15644809A>G | CA351607562 | BTD | c.893A>G (p.Glu298Gly) c.399+2752A>G (n.399+2752A>G) c.165+2752A>G (n.165+2752A>G) c.953A>G (p.Glu318Gly) c.959A>G (p.Glu320Gly) c.671A>G (p.Glu224Gly) c.*2671A>G (n.*2671A>G) | |
| 3 | g.15644809A>T | CA351607563 | BTD | c.893A>T (p.Glu298Val) c.399+2752A>T (n.399+2752A>T) c.165+2752A>T (n.165+2752A>T) c.953A>T (p.Glu318Val) c.959A>T (p.Glu320Val) c.671A>T (p.Glu224Val) c.*2671A>T (n.*2671A>T) | |
| 3 | g.15644810G>A | CA432819098 | BTD | c.894G>A (p.Glu298=) c.399+2753G>A (n.399+2753G>A) c.165+2753G>A (n.165+2753G>A) c.954G>A (p.Glu318=) c.960G>A (p.Glu320=) c.672G>A (p.Glu224=) c.*2672G>A (n.*2672G>A) | ClinVar dbSNP |
| 3 | g.15644810G>C | CA351607564 | BTD | c.894G>C (p.Glu298Asp) c.399+2753G>C (n.399+2753G>C) c.165+2753G>C (n.165+2753G>C) c.954G>C (p.Glu318Asp) c.960G>C (p.Glu320Asp) c.672G>C (p.Glu224Asp) c.*2672G>C (n.*2672G>C) | |
| 3 | g.15644810G>T | CA351607565 | BTD | c.894G>T (p.Glu298Asp) c.399+2753G>T (n.399+2753G>T) c.165+2753G>T (n.165+2753G>T) c.954G>T (p.Glu318Asp) c.960G>T (p.Glu320Asp) c.672G>T (p.Glu224Asp) c.*2672G>T (n.*2672G>T) | |
| 3 | g.15644811T>A | CA351607566 | BTD | c.895T>A (p.Ser299Thr) c.399+2754T>A (n.399+2754T>A) c.165+2754T>A (n.165+2754T>A) c.955T>A (p.Ser319Thr) c.961T>A (p.Ser321Thr) c.673T>A (p.Ser225Thr) c.*2673T>A (n.*2673T>A) | |
| 3 | g.15644811T>C | CA351607567 | BTD | c.895T>C (p.Ser299Pro) c.399+2754T>C (n.399+2754T>C) c.165+2754T>C (n.165+2754T>C) c.955T>C (p.Ser319Pro) c.961T>C (p.Ser321Pro) c.673T>C (p.Ser225Pro) c.*2673T>C (n.*2673T>C) | |
| 3 | g.15644811T>G | CA351607568 | BTD | c.895T>G (p.Ser299Ala) c.399+2754T>G (n.399+2754T>G) c.165+2754T>G (n.165+2754T>G) c.955T>G (p.Ser319Ala) c.961T>G (p.Ser321Ala) c.673T>G (p.Ser225Ala) c.*2673T>G (n.*2673T>G) | |
| 3 | g.15644812C>A | CA351607569 | BTD | c.896C>A (p.Ser299Tyr) c.399+2755C>A (n.399+2755C>A) c.165+2755C>A (n.165+2755C>A) c.956C>A (p.Ser319Tyr) c.962C>A (p.Ser321Tyr) c.674C>A (p.Ser225Tyr) c.*2674C>A (n.*2674C>A) | |
| 3 | g.15644812C>G | CA351607570 | BTD | c.896C>G (p.Ser299Cys) c.399+2755C>G (n.399+2755C>G) c.165+2755C>G (n.165+2755C>G) c.956C>G (p.Ser319Cys) c.962C>G (p.Ser321Cys) c.674C>G (p.Ser225Cys) c.*2674C>G (n.*2674C>G) | |
| 3 | g.15644812C>T | CA351607571 | BTD | c.896C>T (p.Ser299Phe) c.399+2755C>T (n.399+2755C>T) c.165+2755C>T (n.165+2755C>T) c.956C>T (p.Ser319Phe) c.962C>T (p.Ser321Phe) c.674C>T (p.Ser225Phe) c.*2674C>T (n.*2674C>T) | ClinVar gnomAD v4 |
| 3 | g.15644813C>A | CA432819099 | BTD | c.897C>A (p.Ser299=) c.399+2756C>A (n.399+2756C>A) c.165+2756C>A (n.165+2756C>A) c.957C>A (p.Ser319=) c.963C>A (p.Ser321=) c.675C>A (p.Ser225=) c.*2675C>A (n.*2675C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644813C= | CA1347664513 | BTD | c.897C= (p.Ser299=) c.399+2756C= (n.399+2756C=) c.165+2756C= (n.165+2756C=) c.957C= (p.Ser319=) c.963C= (p.Ser321=) c.675C= (p.Ser225=) c.*2675C= (n.*2675C=) | |
| 3 | g.15644813C>G | CA432819101 | BTD | c.897C>G (p.Ser299=) c.399+2756C>G (n.399+2756C>G) c.165+2756C>G (n.165+2756C>G) c.957C>G (p.Ser319=) c.963C>G (p.Ser321=) c.675C>G (p.Ser225=) c.*2675C>G (n.*2675C>G) | |
| 3 | g.15644813C>T | CA432819103 | BTD | c.897C>T (p.Ser299=) c.399+2756C>T (n.399+2756C>T) c.165+2756C>T (n.165+2756C>T) c.957C>T (p.Ser319=) c.963C>T (p.Ser321=) c.675C>T (p.Ser225=) c.*2675C>T (n.*2675C>T) | ClinVar |
| 3 | g.15644814T>A | CA351607574 | BTD | c.898T>A (p.Phe300Ile) c.399+2757T>A (n.399+2757T>A) c.165+2757T>A (n.165+2757T>A) c.958T>A (p.Phe320Ile) c.964T>A (p.Phe322Ile) c.676T>A (p.Phe226Ile) c.*2676T>A (n.*2676T>A) | |
| 3 | g.15644814T>C | CA351607573 | BTD | c.898T>C (p.Phe300Leu) c.399+2757T>C (n.399+2757T>C) c.165+2757T>C (n.165+2757T>C) c.958T>C (p.Phe320Leu) c.964T>C (p.Phe322Leu) c.676T>C (p.Phe226Leu) c.*2676T>C (n.*2676T>C) | |
| 3 | g.15644814T>G | CA351607572 | BTD | c.898T>G (p.Phe300Val) c.399+2757T>G (n.399+2757T>G) c.165+2757T>G (n.165+2757T>G) c.958T>G (p.Phe320Val) c.964T>G (p.Phe322Val) c.676T>G (p.Phe226Val) c.*2676T>G (n.*2676T>G) | |
| 3 | g.15644817dup | CA2580068526 | BTD | c.901dup (p.Trp301LeufsTer4) c.399+2760dup (n.399+2760dup) c.165+2760dup (n.165+2760dup) c.961dup (p.Trp321LeufsTer4) c.967dup (p.Trp323LeufsTer4) c.679dup (p.Trp227LeufsTer4) c.*2679dup (n.*2679dup) | ClinVar |
| 3 | g.15644815T>A | CA351607575 | BTD | c.899T>A (p.Phe300Tyr) c.399+2758T>A (n.399+2758T>A) c.165+2758T>A (n.165+2758T>A) c.959T>A (p.Phe320Tyr) c.965T>A (p.Phe322Tyr) c.677T>A (p.Phe226Tyr) c.*2677T>A (n.*2677T>A) | |
| 3 | g.15644815T>C | CA351607576 | BTD | c.899T>C (p.Phe300Ser) c.399+2758T>C (n.399+2758T>C) c.165+2758T>C (n.165+2758T>C) c.959T>C (p.Phe320Ser) c.965T>C (p.Phe322Ser) c.677T>C (p.Phe226Ser) c.*2677T>C (n.*2677T>C) | |
| 3 | g.15644815T>G | CA351607577 | BTD | c.899T>G (p.Phe300Cys) c.399+2758T>G (n.399+2758T>G) c.165+2758T>G (n.165+2758T>G) c.959T>G (p.Phe320Cys) c.965T>G (p.Phe322Cys) c.677T>G (p.Phe226Cys) c.*2677T>G (n.*2677T>G) | |
| 3 | g.15644816T>A | CA351607578 | BTD | c.900T>A (p.Phe300Leu) c.399+2759T>A (n.399+2759T>A) c.165+2759T>A (n.165+2759T>A) c.960T>A (p.Phe320Leu) c.966T>A (p.Phe322Leu) c.678T>A (p.Phe226Leu) c.*2678T>A (n.*2678T>A) | |
| 3 | g.15644816T>C | CA432819106 | BTD | c.900T>C (p.Phe300=) c.399+2759T>C (n.399+2759T>C) c.165+2759T>C (n.165+2759T>C) c.960T>C (p.Phe320=) c.966T>C (p.Phe322=) c.678T>C (p.Phe226=) c.*2678T>C (n.*2678T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644816T>G | CA351607579 | BTD | c.900T>G (p.Phe300Leu) c.399+2759T>G (n.399+2759T>G) c.165+2759T>G (n.165+2759T>G) c.960T>G (p.Phe320Leu) c.966T>G (p.Phe322Leu) c.678T>G (p.Phe226Leu) c.*2678T>G (n.*2678T>G) | |
| 3 | g.15644816T= | CA1347664515 | BTD | c.900T= (p.Phe300=) c.399+2759T= (n.399+2759T=) c.165+2759T= (n.165+2759T=) c.960T= (p.Phe320=) c.966T= (p.Phe322=) c.678T= (p.Phe226=) c.*2678T= (n.*2678T=) | |
| 3 | g.15644817T>A | CA351607580 | BTD | c.901T>A (p.Trp301Arg) c.399+2760T>A (n.399+2760T>A) c.165+2760T>A (n.165+2760T>A) c.961T>A (p.Trp321Arg) c.967T>A (p.Trp323Arg) c.679T>A (p.Trp227Arg) c.*2679T>A (n.*2679T>A) | |
| 3 | g.15644817T>C | CA351607581 | BTD | c.901T>C (p.Trp301Arg) c.399+2760T>C (n.399+2760T>C) c.165+2760T>C (n.165+2760T>C) c.961T>C (p.Trp321Arg) c.967T>C (p.Trp323Arg) c.679T>C (p.Trp227Arg) c.*2679T>C (n.*2679T>C) | |
| 3 | g.15644817T>G | CA351607582 | BTD | c.901T>G (p.Trp301Gly) c.399+2760T>G (n.399+2760T>G) c.165+2760T>G (n.165+2760T>G) c.961T>G (p.Trp321Gly) c.967T>G (p.Trp323Gly) c.679T>G (p.Trp227Gly) c.*2679T>G (n.*2679T>G) | |
| 3 | g.15644818G>A | CA351607583 | BTD | c.902G>A (p.Trp301Ter) c.399+2761G>A (n.399+2761G>A) c.165+2761G>A (n.165+2761G>A) c.962G>A (p.Trp321Ter) c.968G>A (p.Trp323Ter) c.680G>A (p.Trp227Ter) c.*2680G>A (n.*2680G>A) | |
| 3 | g.15644818G>C | CA351607584 | BTD | c.902G>C (p.Trp301Ser) c.399+2761G>C (n.399+2761G>C) c.165+2761G>C (n.165+2761G>C) c.962G>C (p.Trp321Ser) c.968G>C (p.Trp323Ser) c.680G>C (p.Trp227Ser) c.*2680G>C (n.*2680G>C) | |
| 3 | g.15644818G>T | CA351607585 | BTD | c.902G>T (p.Trp301Leu) c.399+2761G>T (n.399+2761G>T) c.165+2761G>T (n.165+2761G>T) c.962G>T (p.Trp321Leu) c.968G>T (p.Trp323Leu) c.680G>T (p.Trp227Leu) c.*2680G>T (n.*2680G>T) | gnomAD v4 |
| 3 | g.15644819G>A | CA351607588 | BTD | c.903G>A (p.Trp301Ter) c.399+2762G>A (n.399+2762G>A) c.165+2762G>A (n.165+2762G>A) c.963G>A (p.Trp321Ter) c.969G>A (p.Trp323Ter) c.681G>A (p.Trp227Ter) c.*2681G>A (n.*2681G>A) | gnomAD v4 |
| 3 | g.15644819G>C | CA351607587 | BTD | c.903G>C (p.Trp301Cys) c.399+2762G>C (n.399+2762G>C) c.165+2762G>C (n.165+2762G>C) c.963G>C (p.Trp321Cys) c.969G>C (p.Trp323Cys) c.681G>C (p.Trp227Cys) c.*2681G>C (n.*2681G>C) | |
| 3 | g.15644819G>T | CA351607586 | BTD | c.903G>T (p.Trp301Cys) c.399+2762G>T (n.399+2762G>T) c.165+2762G>T (n.165+2762G>T) c.963G>T (p.Trp321Cys) c.969G>T (p.Trp323Cys) c.681G>T (p.Trp227Cys) c.*2681G>T (n.*2681G>T) | gnomAD v4 |
| 3 | g.15644820T>A | CA351607589 | BTD | c.904T>A (p.Tyr302Asn) c.399+2763T>A (n.399+2763T>A) c.165+2763T>A (n.165+2763T>A) c.964T>A (p.Tyr322Asn) c.970T>A (p.Tyr324Asn) c.682T>A (p.Tyr228Asn) c.*2682T>A (n.*2682T>A) | |
| 3 | g.15644820T>C | CA351607590 | BTD | c.904T>C (p.Tyr302His) c.399+2763T>C (n.399+2763T>C) c.165+2763T>C (n.165+2763T>C) c.964T>C (p.Tyr322His) c.970T>C (p.Tyr324His) c.682T>C (p.Tyr228His) c.*2682T>C (n.*2682T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644820T>G | CA351607591 | BTD | c.904T>G (p.Tyr302Asp) c.399+2763T>G (n.399+2763T>G) c.165+2763T>G (n.165+2763T>G) c.964T>G (p.Tyr322Asp) c.970T>G (p.Tyr324Asp) c.682T>G (p.Tyr228Asp) c.*2682T>G (n.*2682T>G) | |
| 3 | g.15644820T= | CA1347664517 | BTD | c.904T= (p.Tyr302=) c.399+2763T= (n.399+2763T=) c.165+2763T= (n.165+2763T=) c.964T= (p.Tyr322=) c.970T= (p.Tyr324=) c.682T= (p.Tyr228=) c.*2682T= (n.*2682T=) | |
| 3 | g.15644821A= | CA1347664521 | BTD | c.905A= (p.Tyr302=) c.399+2764A= (n.399+2764A=) c.165+2764A= (n.165+2764A=) c.965A= (p.Tyr322=) c.971A= (p.Tyr324=) c.683A= (p.Tyr228=) c.*2683A= (n.*2683A=) | |
| 3 | g.15644821A>C | CA351607592 | BTD | c.905A>C (p.Tyr302Ser) c.399+2764A>C (n.399+2764A>C) c.165+2764A>C (n.165+2764A>C) c.965A>C (p.Tyr322Ser) c.971A>C (p.Tyr324Ser) c.683A>C (p.Tyr228Ser) c.*2683A>C (n.*2683A>C) | |
| 3 | g.15644821A>G | CA70622350 | BTD | c.905A>G (p.Tyr302Cys) c.399+2764A>G (n.399+2764A>G) c.165+2764A>G (n.165+2764A>G) c.965A>G (p.Tyr322Cys) c.971A>G (p.Tyr324Cys) c.683A>G (p.Tyr228Cys) c.*2683A>G (n.*2683A>G) | dbSNP |
| 3 | g.15644821A>T | CA351607593 | BTD | c.905A>T (p.Tyr302Phe) c.399+2764A>T (n.399+2764A>T) c.165+2764A>T (n.165+2764A>T) c.965A>T (p.Tyr322Phe) c.971A>T (p.Tyr324Phe) c.683A>T (p.Tyr228Phe) c.*2683A>T (n.*2683A>T) | |
| 3 | g.15644822C>A | CA2277399 | BTD | c.906C>A (p.Tyr302Ter) c.399+2765C>A (n.399+2765C>A) c.165+2765C>A (n.165+2765C>A) c.966C>A (p.Tyr322Ter) c.972C>A (p.Tyr324Ter) c.684C>A (p.Tyr228Ter) c.*2684C>A (n.*2684C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644822C= | CA1347664524 | BTD | c.906C= (p.Tyr302=) c.399+2765C= (n.399+2765C=) c.165+2765C= (n.165+2765C=) c.966C= (p.Tyr322=) c.972C= (p.Tyr324=) c.684C= (p.Tyr228=) c.*2684C= (n.*2684C=) | |
| 3 | g.15644822C>G | CA351607594 | BTD | c.906C>G (p.Tyr302Ter) c.399+2765C>G (n.399+2765C>G) c.165+2765C>G (n.165+2765C>G) c.966C>G (p.Tyr322Ter) c.972C>G (p.Tyr324Ter) c.684C>G (p.Tyr228Ter) c.*2684C>G (n.*2684C>G) | |
| 3 | g.15644822C>T | CA432819112 | BTD | c.906C>T (p.Tyr302=) c.399+2765C>T (n.399+2765C>T) c.165+2765C>T (n.165+2765C>T) c.966C>T (p.Tyr322=) c.972C>T (p.Tyr324=) c.684C>T (p.Tyr228=) c.*2684C>T (n.*2684C>T) | gnomAD v4 COSMIC |
| 3 | g.15644823C>A | CA351607595 | BTD | c.907C>A (p.His303Asn) c.399+2766C>A (n.399+2766C>A) c.165+2766C>A (n.165+2766C>A) c.967C>A (p.His323Asn) c.973C>A (p.His325Asn) c.685C>A (p.His229Asn) c.*2685C>A (n.*2685C>A) | |
| 3 | g.15644823C>G | CA351607596 | BTD | c.907C>G (p.His303Asp) c.399+2766C>G (n.399+2766C>G) c.165+2766C>G (n.165+2766C>G) c.967C>G (p.His323Asp) c.973C>G (p.His325Asp) c.685C>G (p.His229Asp) c.*2685C>G (n.*2685C>G) | |
| 3 | g.15644823C>T | CA351607597 | BTD | c.907C>T (p.His303Tyr) c.399+2766C>T (n.399+2766C>T) c.165+2766C>T (n.165+2766C>T) c.967C>T (p.His323Tyr) c.973C>T (p.His325Tyr) c.685C>T (p.His229Tyr) c.*2685C>T (n.*2685C>T) | |
| 3 | g.15644824A= | CA1347664528 | BTD | c.908A= (p.His303=) c.399+2767A= (n.399+2767A=) c.165+2767A= (n.165+2767A=) c.968A= (p.His323=) c.974A= (p.His325=) c.686A= (p.His229=) c.*2686A= (n.*2686A=) | |
| 3 | g.15644824A>C | CA351607598 | BTD | c.908A>C (p.His303Pro) c.399+2767A>C (n.399+2767A>C) c.165+2767A>C (n.165+2767A>C) c.968A>C (p.His323Pro) c.974A>C (p.His325Pro) c.686A>C (p.His229Pro) c.*2686A>C (n.*2686A>C) | |
| 3 | g.15644824A>G | CA220339 | BTD | c.908A>G (p.His303Arg) c.399+2767A>G (n.399+2767A>G) c.165+2767A>G (n.165+2767A>G) c.968A>G (p.His323Arg) c.974A>G (p.His325Arg) c.686A>G (p.His229Arg) c.*2686A>G (n.*2686A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.15644824A>T | CA351607599 | BTD | c.908A>T (p.His303Leu) c.399+2767A>T (n.399+2767A>T) c.165+2767A>T (n.165+2767A>T) c.968A>T (p.His323Leu) c.974A>T (p.His325Leu) c.686A>T (p.His229Leu) c.*2686A>T (n.*2686A>T) | |
| 3 | g.15644825T>A | CA351607600 | BTD | c.909T>A (p.His303Gln) c.399+2768T>A (n.399+2768T>A) c.165+2768T>A (n.165+2768T>A) c.969T>A (p.His323Gln) c.975T>A (p.His325Gln) c.687T>A (p.His229Gln) c.*2687T>A (n.*2687T>A) | |
| 3 | g.15644825T>C | CA432819116 | BTD | c.909T>C (p.His303=) c.399+2768T>C (n.399+2768T>C) c.165+2768T>C (n.165+2768T>C) c.969T>C (p.His323=) c.975T>C (p.His325=) c.687T>C (p.His229=) c.*2687T>C (n.*2687T>C) | gnomAD v4 |
| 3 | g.15644825T>G | CA351607601 | BTD | c.909T>G (p.His303Gln) c.399+2768T>G (n.399+2768T>G) c.165+2768T>G (n.165+2768T>G) c.969T>G (p.His323Gln) c.975T>G (p.His325Gln) c.687T>G (p.His229Gln) c.*2687T>G (n.*2687T>G) | |
| 3 | g.15644826G>A | CA351607602 | BTD | c.910G>A (p.Asp304Asn) c.399+2769G>A (n.399+2769G>A) c.165+2769G>A (n.165+2769G>A) c.970G>A (p.Asp324Asn) c.976G>A (p.Asp326Asn) c.688G>A (p.Asp230Asn) c.*2688G>A (n.*2688G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644826G>C | CA351607603 | BTD | c.910G>C (p.Asp304His) c.399+2769G>C (n.399+2769G>C) c.165+2769G>C (n.165+2769G>C) c.970G>C (p.Asp324His) c.976G>C (p.Asp326His) c.688G>C (p.Asp230His) c.*2688G>C (n.*2688G>C) | |
| 3 | g.15644826G= | CA1347664535 | BTD | c.910G= (p.Asp304=) c.399+2769G= (n.399+2769G=) c.165+2769G= (n.165+2769G=) c.970G= (p.Asp324=) c.976G= (p.Asp326=) c.688G= (p.Asp230=) c.*2688G= (n.*2688G=) | |
| 3 | g.15644826G>T | CA351607604 | BTD | c.910G>T (p.Asp304Tyr) c.399+2769G>T (n.399+2769G>T) c.165+2769G>T (n.165+2769G>T) c.970G>T (p.Asp324Tyr) c.976G>T (p.Asp326Tyr) c.688G>T (p.Asp230Tyr) c.*2688G>T (n.*2688G>T) | gnomAD v4 COSMIC |
| 3 | g.15644827A>C | CA351607605 | BTD | c.911A>C (p.Asp304Ala) c.399+2770A>C (n.399+2770A>C) c.165+2770A>C (n.165+2770A>C) c.971A>C (p.Asp324Ala) c.977A>C (p.Asp326Ala) c.689A>C (p.Asp230Ala) c.*2689A>C (n.*2689A>C) | |
| 3 | g.15644827A>G | CA351607606 | BTD | c.911A>G (p.Asp304Gly) c.399+2770A>G (n.399+2770A>G) c.165+2770A>G (n.165+2770A>G) c.971A>G (p.Asp324Gly) c.977A>G (p.Asp326Gly) c.689A>G (p.Asp230Gly) c.*2689A>G (n.*2689A>G) | gnomAD v4 |
| 3 | g.15644827A>T | CA351607607 | BTD | c.911A>T (p.Asp304Val) c.399+2770A>T (n.399+2770A>T) c.165+2770A>T (n.165+2770A>T) c.971A>T (p.Asp324Val) c.977A>T (p.Asp326Val) c.689A>T (p.Asp230Val) c.*2689A>T (n.*2689A>T) | |
| 3 | g.15644828C>A | CA351607608 | BTD | c.912C>A (p.Asp304Glu) c.399+2771C>A (n.399+2771C>A) c.165+2771C>A (n.165+2771C>A) c.972C>A (p.Asp324Glu) c.978C>A (p.Asp326Glu) c.690C>A (p.Asp230Glu) c.*2690C>A (n.*2690C>A) | |
| 3 | g.15644828C= | CA1347664537 | BTD | c.912C= (p.Asp304=) c.399+2771C= (n.399+2771C=) c.165+2771C= (n.165+2771C=) c.972C= (p.Asp324=) c.978C= (p.Asp326=) c.690C= (p.Asp230=) c.*2690C= (n.*2690C=) | |
| 3 | g.15644828C>G | CA351607609 | BTD | c.912C>G (p.Asp304Glu) c.399+2771C>G (n.399+2771C>G) c.165+2771C>G (n.165+2771C>G) c.972C>G (p.Asp324Glu) c.978C>G (p.Asp326Glu) c.690C>G (p.Asp230Glu) c.*2690C>G (n.*2690C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644828C>T | CA432819118 | BTD | c.912C>T (p.Asp304=) c.399+2771C>T (n.399+2771C>T) c.165+2771C>T (n.165+2771C>T) c.972C>T (p.Asp324=) c.978C>T (p.Asp326=) c.690C>T (p.Asp230=) c.*2690C>T (n.*2690C>T) | |
| 3 | g.15644829A>C | CA351607610 | BTD | c.913A>C (p.Met305Leu) c.399+2772A>C (n.399+2772A>C) c.165+2772A>C (n.165+2772A>C) c.973A>C (p.Met325Leu) c.979A>C (p.Met327Leu) c.691A>C (p.Met231Leu) c.*2691A>C (n.*2691A>C) | |
| 3 | g.15644829A>G | CA351607611 | BTD | c.913A>G (p.Met305Val) c.399+2772A>G (n.399+2772A>G) c.165+2772A>G (n.165+2772A>G) c.973A>G (p.Met325Val) c.979A>G (p.Met327Val) c.691A>G (p.Met231Val) c.*2691A>G (n.*2691A>G) | gnomAD v4 |
| 3 | g.15644829A>T | CA351607612 | BTD | c.913A>T (p.Met305Leu) c.399+2772A>T (n.399+2772A>T) c.165+2772A>T (n.165+2772A>T) c.973A>T (p.Met325Leu) c.979A>T (p.Met327Leu) c.691A>T (p.Met231Leu) c.*2691A>T (n.*2691A>T) | |
| 3 | g.15644830T>A | CA351607615 | BTD | c.914T>A (p.Met305Lys) c.399+2773T>A (n.399+2773T>A) c.165+2773T>A (n.165+2773T>A) c.974T>A (p.Met325Lys) c.980T>A (p.Met327Lys) c.692T>A (p.Met231Lys) c.*2692T>A (n.*2692T>A) | |
| 3 | g.15644830T>C | CA351607614 | BTD | c.914T>C (p.Met305Thr) c.399+2773T>C (n.399+2773T>C) c.165+2773T>C (n.165+2773T>C) c.974T>C (p.Met325Thr) c.980T>C (p.Met327Thr) c.692T>C (p.Met231Thr) c.*2692T>C (n.*2692T>C) | |
| 3 | g.15644830T>G | CA351607613 | BTD | c.914T>G (p.Met305Arg) c.399+2773T>G (n.399+2773T>G) c.165+2773T>G (n.165+2773T>G) c.974T>G (p.Met325Arg) c.980T>G (p.Met327Arg) c.692T>G (p.Met231Arg) c.*2692T>G (n.*2692T>G) | |
| 3 | g.15644831G>A | CA2277400 | BTD | c.915G>A (p.Met305Ile) c.399+2774G>A (n.399+2774G>A) c.165+2774G>A (n.165+2774G>A) c.975G>A (p.Met325Ile) c.981G>A (p.Met327Ile) c.693G>A (p.Met231Ile) c.*2693G>A (n.*2693G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644831G>C | CA351607617 | BTD | c.915G>C (p.Met305Ile) c.399+2774G>C (n.399+2774G>C) c.165+2774G>C (n.165+2774G>C) c.975G>C (p.Met325Ile) c.981G>C (p.Met327Ile) c.693G>C (p.Met231Ile) c.*2693G>C (n.*2693G>C) | |
| 3 | g.15644831G= | CA1347664539 | BTD | c.915G= (p.Met305=) c.399+2774G= (n.399+2774G=) c.165+2774G= (n.165+2774G=) c.975G= (p.Met325=) c.981G= (p.Met327=) c.693G= (p.Met231=) c.*2693G= (n.*2693G=) | |
| 3 | g.15644831G>T | CA351607616 | BTD | c.915G>T (p.Met305Ile) c.399+2774G>T (n.399+2774G>T) c.165+2774G>T (n.165+2774G>T) c.975G>T (p.Met325Ile) c.981G>T (p.Met327Ile) c.693G>T (p.Met231Ile) c.*2693G>T (n.*2693G>T) | |
| 3 | g.15644832del | CA2755329001 | BTD | c.916del (p.Glu306LysfsTer8) c.399+2775del (n.399+2775del) c.165+2775del (n.165+2775del) c.976del (p.Glu326LysfsTer8) c.982del (p.Glu328LysfsTer8) c.694del (p.Glu232LysfsTer8) c.*2694del (n.*2694del) | |
| 3 | g.15644832G>A | CA351607618 | BTD | c.916G>A (p.Glu306Lys) c.399+2775G>A (n.399+2775G>A) c.165+2775G>A (n.165+2775G>A) c.976G>A (p.Glu326Lys) c.982G>A (p.Glu328Lys) c.694G>A (p.Glu232Lys) c.*2694G>A (n.*2694G>A) | |
| 3 | g.15644832G>C | CA351607619 | BTD | c.916G>C (p.Glu306Gln) c.399+2775G>C (n.399+2775G>C) c.165+2775G>C (n.165+2775G>C) c.976G>C (p.Glu326Gln) c.982G>C (p.Glu328Gln) c.694G>C (p.Glu232Gln) c.*2694G>C (n.*2694G>C) | |
| 3 | g.15644832G>T | CA351607620 | BTD | c.916G>T (p.Glu306Ter) c.399+2775G>T (n.399+2775G>T) c.165+2775G>T (n.165+2775G>T) c.976G>T (p.Glu326Ter) c.982G>T (p.Glu328Ter) c.694G>T (p.Glu232Ter) c.*2694G>T (n.*2694G>T) | |
| 3 | g.15644833A= | CA1347664545 | BTD | c.917A= (p.Glu306=) c.399+2776A= (n.399+2776A=) c.165+2776A= (n.165+2776A=) c.977A= (p.Glu326=) c.983A= (p.Glu328=) c.695A= (p.Glu232=) c.*2695A= (n.*2695A=) | |
| 3 | g.15644833A>C | CA2277401 | BTD | c.917A>C (p.Glu306Ala) c.399+2776A>C (n.399+2776A>C) c.165+2776A>C (n.165+2776A>C) c.977A>C (p.Glu326Ala) c.983A>C (p.Glu328Ala) c.695A>C (p.Glu232Ala) c.*2695A>C (n.*2695A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644833A>G | CA351607621 | BTD | c.917A>G (p.Glu306Gly) c.399+2776A>G (n.399+2776A>G) c.165+2776A>G (n.165+2776A>G) c.977A>G (p.Glu326Gly) c.983A>G (p.Glu328Gly) c.695A>G (p.Glu232Gly) c.*2695A>G (n.*2695A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644833A>T | CA351607622 | BTD | c.917A>T (p.Glu306Val) c.399+2776A>T (n.399+2776A>T) c.165+2776A>T (n.165+2776A>T) c.977A>T (p.Glu326Val) c.983A>T (p.Glu328Val) c.695A>T (p.Glu232Val) c.*2695A>T (n.*2695A>T) | |
| 3 | g.15644836dup | CA2580068527 | BTD | c.920dup (p.Asn307LysfsTer27) c.399+2779dup (n.399+2779dup) c.165+2779dup (n.165+2779dup) c.980dup (p.Asn327LysfsTer27) c.986dup (p.Asn329LysfsTer27) c.698dup (p.Asn233LysfsTer27) c.*2698dup (n.*2698dup) | ClinVar |
| 3 | g.15644834A>C | CA351607623 | BTD | c.918A>C (p.Glu306Asp) c.399+2777A>C (n.399+2777A>C) c.165+2777A>C (n.165+2777A>C) c.978A>C (p.Glu326Asp) c.984A>C (p.Glu328Asp) c.696A>C (p.Glu232Asp) c.*2696A>C (n.*2696A>C) | |
| 3 | g.15644834A>G | CA432819127 | BTD | c.918A>G (p.Glu306=) c.399+2777A>G (n.399+2777A>G) c.165+2777A>G (n.165+2777A>G) c.978A>G (p.Glu326=) c.984A>G (p.Glu328=) c.696A>G (p.Glu232=) c.*2696A>G (n.*2696A>G) | gnomAD v4 |
| 3 | g.15644834A>T | CA351607624 | BTD | c.918A>T (p.Glu306Asp) c.399+2777A>T (n.399+2777A>T) c.165+2777A>T (n.165+2777A>T) c.978A>T (p.Glu326Asp) c.984A>T (p.Glu328Asp) c.696A>T (p.Glu232Asp) c.*2696A>T (n.*2696A>T) | |
| 3 | g.15644835A>C | CA351607625 | BTD | c.919A>C (p.Asn307His) c.399+2778A>C (n.399+2778A>C) c.165+2778A>C (n.165+2778A>C) c.979A>C (p.Asn327His) c.985A>C (p.Asn329His) c.697A>C (p.Asn233His) c.*2697A>C (n.*2697A>C) | |
| 3 | g.15644835A>G | CA351607626 | BTD | c.919A>G (p.Asn307Asp) c.399+2778A>G (n.399+2778A>G) c.165+2778A>G (n.165+2778A>G) c.979A>G (p.Asn327Asp) c.985A>G (p.Asn329Asp) c.697A>G (p.Asn233Asp) c.*2697A>G (n.*2697A>G) | |
| 3 | g.15644835A>T | CA351607627 | BTD | c.919A>T (p.Asn307Tyr) c.399+2778A>T (n.399+2778A>T) c.165+2778A>T (n.165+2778A>T) c.979A>T (p.Asn327Tyr) c.985A>T (p.Asn329Tyr) c.697A>T (p.Asn233Tyr) c.*2697A>T (n.*2697A>T) | |
| 3 | g.15644836A>C | CA351607628 | BTD | c.920A>C (p.Asn307Thr) c.399+2779A>C (n.399+2779A>C) c.165+2779A>C (n.165+2779A>C) c.980A>C (p.Asn327Thr) c.986A>C (p.Asn329Thr) c.698A>C (p.Asn233Thr) c.*2698A>C (n.*2698A>C) | COSMIC |
| 3 | g.15644836A>G | CA351607629 | BTD | c.920A>G (p.Asn307Ser) c.399+2779A>G (n.399+2779A>G) c.165+2779A>G (n.165+2779A>G) c.980A>G (p.Asn327Ser) c.986A>G (p.Asn329Ser) c.698A>G (p.Asn233Ser) c.*2698A>G (n.*2698A>G) | |
| 3 | g.15644836A>T | CA351607630 | BTD | c.920A>T (p.Asn307Ile) c.399+2779A>T (n.399+2779A>T) c.165+2779A>T (n.165+2779A>T) c.980A>T (p.Asn327Ile) c.986A>T (p.Asn329Ile) c.698A>T (p.Asn233Ile) c.*2698A>T (n.*2698A>T) | |
| 3 | g.15644837T>A | CA351607631 | BTD | c.921T>A (p.Asn307Lys) c.399+2780T>A (n.399+2780T>A) c.165+2780T>A (n.165+2780T>A) c.981T>A (p.Asn327Lys) c.987T>A (p.Asn329Lys) c.699T>A (p.Asn233Lys) c.*2699T>A (n.*2699T>A) | |
| 3 | g.15644837T>C | CA432819129 | BTD | c.921T>C (p.Asn307=) c.399+2780T>C (n.399+2780T>C) c.165+2780T>C (n.165+2780T>C) c.981T>C (p.Asn327=) c.987T>C (p.Asn329=) c.699T>C (p.Asn233=) c.*2699T>C (n.*2699T>C) | |
| 3 | g.15644837T>G | CA351607632 | BTD | c.921T>G (p.Asn307Lys) c.399+2780T>G (n.399+2780T>G) c.165+2780T>G (n.165+2780T>G) c.981T>G (p.Asn327Lys) c.987T>G (p.Asn329Lys) c.699T>G (p.Asn233Lys) c.*2699T>G (n.*2699T>G) | |
| 3 | g.15644838C>A | CA351607633 | BTD | c.922C>A (p.Pro308Thr) c.399+2781C>A (n.399+2781C>A) c.165+2781C>A (n.165+2781C>A) c.982C>A (p.Pro328Thr) c.988C>A (p.Pro330Thr) c.700C>A (p.Pro234Thr) c.*2700C>A (n.*2700C>A) | |
| 3 | g.15644838C>G | CA351607634 | BTD | c.922C>G (p.Pro308Ala) c.399+2781C>G (n.399+2781C>G) c.165+2781C>G (n.165+2781C>G) c.982C>G (p.Pro328Ala) c.988C>G (p.Pro330Ala) c.700C>G (p.Pro234Ala) c.*2700C>G (n.*2700C>G) | |
| 3 | g.15644838C>T | CA351607635 | BTD | c.922C>T (p.Pro308Ser) c.399+2781C>T (n.399+2781C>T) c.165+2781C>T (n.165+2781C>T) c.982C>T (p.Pro328Ser) c.988C>T (p.Pro330Ser) c.700C>T (p.Pro234Ser) c.*2700C>T (n.*2700C>T) | |
| 3 | g.15644839C>A | CA351607636 | BTD | c.923C>A (p.Pro308His) c.399+2782C>A (n.399+2782C>A) c.165+2782C>A (n.165+2782C>A) c.983C>A (p.Pro328His) c.989C>A (p.Pro330His) c.701C>A (p.Pro234His) c.*2701C>A (n.*2701C>A) | |
| 3 | g.15644839C>G | CA351607637 | BTD | c.923C>G (p.Pro308Arg) c.399+2782C>G (n.399+2782C>G) c.165+2782C>G (n.165+2782C>G) c.983C>G (p.Pro328Arg) c.989C>G (p.Pro330Arg) c.701C>G (p.Pro234Arg) c.*2701C>G (n.*2701C>G) | |
| 3 | g.15644839C>T | CA351607638 | BTD | c.923C>T (p.Pro308Leu) c.399+2782C>T (n.399+2782C>T) c.165+2782C>T (n.165+2782C>T) c.983C>T (p.Pro328Leu) c.989C>T (p.Pro330Leu) c.701C>T (p.Pro234Leu) c.*2701C>T (n.*2701C>T) | COSMIC |
| 3 | g.15644840C>A | CA432819132 | BTD | c.924C>A (p.Pro308=) c.399+2783C>A (n.399+2783C>A) c.165+2783C>A (n.165+2783C>A) c.984C>A (p.Pro328=) c.990C>A (p.Pro330=) c.702C>A (p.Pro234=) c.*2702C>A (n.*2702C>A) | |
| 3 | g.15644840C= | CA1347664550 | BTD | c.924C= (p.Pro308=) c.399+2783C= (n.399+2783C=) c.165+2783C= (n.165+2783C=) c.984C= (p.Pro328=) c.990C= (p.Pro330=) c.702C= (p.Pro234=) c.*2702C= (n.*2702C=) | |
| 3 | g.15644840C>G | CA432819133 | BTD | c.924C>G (p.Pro308=) c.399+2783C>G (n.399+2783C>G) c.165+2783C>G (n.165+2783C>G) c.984C>G (p.Pro328=) c.990C>G (p.Pro330=) c.702C>G (p.Pro234=) c.*2702C>G (n.*2702C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644840C>T | CA432819141 | BTD | c.924C>T (p.Pro308=) c.399+2783C>T (n.399+2783C>T) c.165+2783C>T (n.165+2783C>T) c.984C>T (p.Pro328=) c.990C>T (p.Pro330=) c.702C>T (p.Pro234=) c.*2702C>T (n.*2702C>T) | gnomAD v4 |
| 3 | g.15644841A>C | CA351607639 | BTD | c.925A>C (p.Lys309Gln) c.399+2784A>C (n.399+2784A>C) c.165+2784A>C (n.165+2784A>C) c.985A>C (p.Lys329Gln) c.991A>C (p.Lys331Gln) c.703A>C (p.Lys235Gln) c.*2703A>C (n.*2703A>C) | |
| 3 | g.15644841A>G | CA351607640 | BTD | c.925A>G (p.Lys309Glu) c.399+2784A>G (n.399+2784A>G) c.165+2784A>G (n.165+2784A>G) c.985A>G (p.Lys329Glu) c.991A>G (p.Lys331Glu) c.703A>G (p.Lys235Glu) c.*2703A>G (n.*2703A>G) | gnomAD v4 |
| 3 | g.15644841A>T | CA351607641 | BTD | c.925A>T (p.Lys309Ter) c.399+2784A>T (n.399+2784A>T) c.165+2784A>T (n.165+2784A>T) c.985A>T (p.Lys329Ter) c.991A>T (p.Lys331Ter) c.703A>T (p.Lys235Ter) c.*2703A>T (n.*2703A>T) | |
| 3 | g.15644842A>C | CA351607642 | BTD | c.926A>C (p.Lys309Thr) c.399+2785A>C (n.399+2785A>C) c.165+2785A>C (n.165+2785A>C) c.986A>C (p.Lys329Thr) c.992A>C (p.Lys331Thr) c.704A>C (p.Lys235Thr) c.*2704A>C (n.*2704A>C) | |
| 3 | g.15644842A>G | CA351607643 | BTD | c.926A>G (p.Lys309Arg) c.399+2785A>G (n.399+2785A>G) c.165+2785A>G (n.165+2785A>G) c.986A>G (p.Lys329Arg) c.992A>G (p.Lys331Arg) c.704A>G (p.Lys235Arg) c.*2704A>G (n.*2704A>G) | |
| 3 | g.15644842A>T | CA351607644 | BTD | c.926A>T (p.Lys309Ile) c.399+2785A>T (n.399+2785A>T) c.165+2785A>T (n.165+2785A>T) c.986A>T (p.Lys329Ile) c.992A>T (p.Lys331Ile) c.704A>T (p.Lys235Ile) c.*2704A>T (n.*2704A>T) | |
| 3 | g.15644843A>C | CA351607646 | BTD | c.927A>C (p.Lys309Asn) c.399+2786A>C (n.399+2786A>C) c.165+2786A>C (n.165+2786A>C) c.987A>C (p.Lys329Asn) c.993A>C (p.Lys331Asn) c.705A>C (p.Lys235Asn) c.*2705A>C (n.*2705A>C) | |
| 3 | g.15644843A>G | CA432819143 | BTD | c.927A>G (p.Lys309=) c.399+2786A>G (n.399+2786A>G) c.165+2786A>G (n.165+2786A>G) c.987A>G (p.Lys329=) c.993A>G (p.Lys331=) c.705A>G (p.Lys235=) c.*2705A>G (n.*2705A>G) | |
| 3 | g.15644843A>T | CA351607645 | BTD | c.927A>T (p.Lys309Asn) c.399+2786A>T (n.399+2786A>T) c.165+2786A>T (n.165+2786A>T) c.987A>T (p.Lys329Asn) c.993A>T (p.Lys331Asn) c.705A>T (p.Lys235Asn) c.*2705A>T (n.*2705A>T) | |
| 3 | g.15644844A= | CA1347664551 | BTD | c.928A= (p.Ser310=) c.399+2787A= (n.399+2787A=) c.165+2787A= (n.165+2787A=) c.988A= (p.Ser330=) c.994A= (p.Ser332=) c.706A= (p.Ser236=) c.*2706A= (n.*2706A=) | |
| 3 | g.15644844A>C | CA2277402 | BTD | c.928A>C (p.Ser310Arg) c.399+2787A>C (n.399+2787A>C) c.165+2787A>C (n.165+2787A>C) c.988A>C (p.Ser330Arg) c.994A>C (p.Ser332Arg) c.706A>C (p.Ser236Arg) c.*2706A>C (n.*2706A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644844A>G | CA351607651 | BTD | c.928A>G (p.Ser310Gly) c.399+2787A>G (n.399+2787A>G) c.165+2787A>G (n.165+2787A>G) c.988A>G (p.Ser330Gly) c.994A>G (p.Ser332Gly) c.706A>G (p.Ser236Gly) c.*2706A>G (n.*2706A>G) | |
| 3 | g.15644844A>T | CA351607650 | BTD | c.928A>T (p.Ser310Cys) c.399+2787A>T (n.399+2787A>T) c.165+2787A>T (n.165+2787A>T) c.988A>T (p.Ser330Cys) c.994A>T (p.Ser332Cys) c.706A>T (p.Ser236Cys) c.*2706A>T (n.*2706A>T) | |
| 3 | g.15644845G>A | CA351607654 | BTD | c.929G>A (p.Ser310Asn) c.399+2788G>A (n.399+2788G>A) c.165+2788G>A (n.165+2788G>A) c.989G>A (p.Ser330Asn) c.995G>A (p.Ser332Asn) c.707G>A (p.Ser236Asn) c.*2707G>A (n.*2707G>A) | |
| 3 | g.15644845G>C | CA2277403 | BTD | c.929G>C (p.Ser310Thr) c.399+2788G>C (n.399+2788G>C) c.165+2788G>C (n.165+2788G>C) c.989G>C (p.Ser330Thr) c.995G>C (p.Ser332Thr) c.707G>C (p.Ser236Thr) c.*2707G>C (n.*2707G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644845G= | CA1347664555 | BTD | c.929G= (p.Ser310=) c.399+2788G= (n.399+2788G=) c.165+2788G= (n.165+2788G=) c.989G= (p.Ser330=) c.995G= (p.Ser332=) c.707G= (p.Ser236=) c.*2707G= (n.*2707G=) | |
| 3 | g.15644845G>T | CA351607656 | BTD | c.929G>T (p.Ser310Ile) c.399+2788G>T (n.399+2788G>T) c.165+2788G>T (n.165+2788G>T) c.989G>T (p.Ser330Ile) c.995G>T (p.Ser332Ile) c.707G>T (p.Ser236Ile) c.*2707G>T (n.*2707G>T) | |
| 3 | g.15644846T>A | CA351607659 | BTD | c.930T>A (p.Ser310Arg) c.399+2789T>A (n.399+2789T>A) c.165+2789T>A (n.165+2789T>A) c.990T>A (p.Ser330Arg) c.996T>A (p.Ser332Arg) c.708T>A (p.Ser236Arg) c.*2708T>A (n.*2708T>A) | |
| 3 | g.15644846T>C | CA432819149 | BTD | c.930T>C (p.Ser310=) c.399+2789T>C (n.399+2789T>C) c.165+2789T>C (n.165+2789T>C) c.990T>C (p.Ser330=) c.996T>C (p.Ser332=) c.708T>C (p.Ser236=) c.*2708T>C (n.*2708T>C) | |
| 3 | g.15644846T>G | CA351607660 | BTD | c.930T>G (p.Ser310Arg) c.399+2789T>G (n.399+2789T>G) c.165+2789T>G (n.165+2789T>G) c.990T>G (p.Ser330Arg) c.996T>G (p.Ser332Arg) c.708T>G (p.Ser236Arg) c.*2708T>G (n.*2708T>G) | |
| 3 | g.15644847_15644857del | CA913102314 | BTD | c.931_941del (p.His311CysfsTer19) c.399+2790_399+2800del (n.399+2790_399+2800del) c.165+2790_165+2800del (n.165+2790_165+2800del) c.991_1001del (p.His331CysfsTer19) c.997_1007del (p.His333CysfsTer19) c.709_719del (p.His237CysfsTer19) c.*2709_*2719del (n.*2709_*2719del) | |
| 3 | g.15644847C>A | CA351607662 | BTD | c.931C>A (p.His311Asn) c.399+2790C>A (n.399+2790C>A) c.165+2790C>A (n.165+2790C>A) c.991C>A (p.His331Asn) c.997C>A (p.His333Asn) c.709C>A (p.His237Asn) c.*2709C>A (n.*2709C>A) | |
| 3 | g.15644847C>G | CA351607664 | BTD | c.931C>G (p.His311Asp) c.399+2790C>G (n.399+2790C>G) c.165+2790C>G (n.165+2790C>G) c.991C>G (p.His331Asp) c.997C>G (p.His333Asp) c.709C>G (p.His237Asp) c.*2709C>G (n.*2709C>G) | |
| 3 | g.15644847C>T | CA351607666 | BTD | c.931C>T (p.His311Tyr) c.399+2790C>T (n.399+2790C>T) c.165+2790C>T (n.165+2790C>T) c.991C>T (p.His331Tyr) c.997C>T (p.His333Tyr) c.709C>T (p.His237Tyr) c.*2709C>T (n.*2709C>T) | |
| 3 | g.15644847_15644857delinsCACCTTATAAT | CA1347664560 | BTD | c.931_941delinsCACCTTATAAT (p.His311=) c.399+2790_399+2800delinsCACCTTATAAT (n.399+2790_399+2800delinsCACCTTATAAT) c.165+2790_165+2800delinsCACCTTATAAT (n.165+2790_165+2800delinsCACCTTATAAT) c.991_1001delinsCACCTTATAAT (p.His331=) c.997_1007delinsCACCTTATAAT (p.His333=) c.709_719delinsCACCTTATAAT (p.His237=) c.*2709_*2719delinsCACCTTATAAT (n.*2709_*2719delinsCACCTTATAAT) | |
| 3 | g.15644848A= | CA1347664567 | BTD | c.932A= (p.His311=) c.399+2791A= (n.399+2791A=) c.165+2791A= (n.165+2791A=) c.992A= (p.His331=) c.998A= (p.His333=) c.710A= (p.His237=) c.*2710A= (n.*2710A=) | |
| 3 | g.15644848A>C | CA351607669 | BTD | c.932A>C (p.His311Pro) c.399+2791A>C (n.399+2791A>C) c.165+2791A>C (n.165+2791A>C) c.992A>C (p.His331Pro) c.998A>C (p.His333Pro) c.710A>C (p.His237Pro) c.*2710A>C (n.*2710A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644848A>G | CA351607670 | BTD | c.932A>G (p.His311Arg) c.399+2791A>G (n.399+2791A>G) c.165+2791A>G (n.165+2791A>G) c.992A>G (p.His331Arg) c.998A>G (p.His333Arg) c.710A>G (p.His237Arg) c.*2710A>G (n.*2710A>G) | dbSNP |
| 3 | g.15644848A>T | CA351607672 | BTD | c.932A>T (p.His311Leu) c.399+2791A>T (n.399+2791A>T) c.165+2791A>T (n.165+2791A>T) c.992A>T (p.His331Leu) c.998A>T (p.His333Leu) c.710A>T (p.His237Leu) c.*2710A>T (n.*2710A>T) | |
| 3 | g.15644848_15644857del | CA2277404 | BTD | c.932_941del (p.His311LeufsTer29) c.399+2791_399+2800del (n.399+2791_399+2800del) c.932_941del (p.His311LeufsTer?) c.165+2791_165+2800del (n.165+2791_165+2800del) c.992_1001del (p.His331LeufsTer29) c.998_1007del (p.His333LeufsTer29) c.710_719del (p.His237LeufsTer?) c.*2710_*2719del (n.*2710_*2719del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644849C>A | CA351607674 | BTD | c.933C>A (p.His311Gln) c.399+2792C>A (n.399+2792C>A) c.165+2792C>A (n.165+2792C>A) c.993C>A (p.His331Gln) c.999C>A (p.His333Gln) c.711C>A (p.His237Gln) c.*2711C>A (n.*2711C>A) | |
| 3 | g.15644849C>G | CA351607675 | BTD | c.933C>G (p.His311Gln) c.399+2792C>G (n.399+2792C>G) c.165+2792C>G (n.165+2792C>G) c.993C>G (p.His331Gln) c.999C>G (p.His333Gln) c.711C>G (p.His237Gln) c.*2711C>G (n.*2711C>G) | |
| 3 | g.15644849C>T | CA432819151 | BTD | c.933C>T (p.His311=) c.399+2792C>T (n.399+2792C>T) c.165+2792C>T (n.165+2792C>T) c.993C>T (p.His331=) c.999C>T (p.His333=) c.711C>T (p.His237=) c.*2711C>T (n.*2711C>T) | |
| 3 | g.15644850C>A | CA351607679 | BTD | c.934C>A (p.Leu312Ile) c.399+2793C>A (n.399+2793C>A) c.165+2793C>A (n.165+2793C>A) c.994C>A (p.Leu332Ile) c.1000C>A (p.Leu334Ile) c.712C>A (p.Leu238Ile) c.*2712C>A (n.*2712C>A) | |
| 3 | g.15644850C>G | CA351607680 | BTD | c.934C>G (p.Leu312Val) c.399+2793C>G (n.399+2793C>G) c.165+2793C>G (n.165+2793C>G) c.994C>G (p.Leu332Val) c.1000C>G (p.Leu334Val) c.712C>G (p.Leu238Val) c.*2712C>G (n.*2712C>G) | |
| 3 | g.15644850C>T | CA351607682 | BTD | c.934C>T (p.Leu312Phe) c.399+2793C>T (n.399+2793C>T) c.165+2793C>T (n.165+2793C>T) c.994C>T (p.Leu332Phe) c.1000C>T (p.Leu334Phe) c.712C>T (p.Leu238Phe) c.*2712C>T (n.*2712C>T) | |
| 3 | g.15644851T>A | CA351607684 | BTD | c.935T>A (p.Leu312His) c.399+2794T>A (n.399+2794T>A) c.165+2794T>A (n.165+2794T>A) c.995T>A (p.Leu332His) c.1001T>A (p.Leu334His) c.713T>A (p.Leu238His) c.*2713T>A (n.*2713T>A) | |
| 3 | g.15644851T>C | CA351607685 | BTD | c.935T>C (p.Leu312Pro) c.399+2794T>C (n.399+2794T>C) c.165+2794T>C (n.165+2794T>C) c.995T>C (p.Leu332Pro) c.1001T>C (p.Leu334Pro) c.713T>C (p.Leu238Pro) c.*2713T>C (n.*2713T>C) | |
| 3 | g.15644851T>G | CA351607687 | BTD | c.935T>G (p.Leu312Arg) c.399+2794T>G (n.399+2794T>G) c.165+2794T>G (n.165+2794T>G) c.995T>G (p.Leu332Arg) c.1001T>G (p.Leu334Arg) c.713T>G (p.Leu238Arg) c.*2713T>G (n.*2713T>G) | |
| 3 | g.15644852T>A | CA432819162 | BTD | c.936T>A (p.Leu312=) c.399+2795T>A (n.399+2795T>A) c.165+2795T>A (n.165+2795T>A) c.996T>A (p.Leu332=) c.1002T>A (p.Leu334=) c.714T>A (p.Leu238=) c.*2714T>A (n.*2714T>A) | |
| 3 | g.15644852T>C | CA432819163 | BTD | c.936T>C (p.Leu312=) c.399+2795T>C (n.399+2795T>C) c.165+2795T>C (n.165+2795T>C) c.996T>C (p.Leu332=) c.1002T>C (p.Leu334=) c.714T>C (p.Leu238=) c.*2714T>C (n.*2714T>C) | |
| 3 | g.15644852T>G | CA432819161 | BTD | c.936T>G (p.Leu312=) c.399+2795T>G (n.399+2795T>G) c.165+2795T>G (n.165+2795T>G) c.996T>G (p.Leu332=) c.1002T>G (p.Leu334=) c.714T>G (p.Leu238=) c.*2714T>G (n.*2714T>G) | |
| 3 | g.15644853A>C | CA351607690 | BTD | c.937A>C (p.Ile313Leu) c.399+2796A>C (n.399+2796A>C) c.165+2796A>C (n.165+2796A>C) c.997A>C (p.Ile333Leu) c.1003A>C (p.Ile335Leu) c.715A>C (p.Ile239Leu) c.*2715A>C (n.*2715A>C) | gnomAD v4 |
| 3 | g.15644853A>G | CA351607691 | BTD | c.937A>G (p.Ile313Val) c.399+2796A>G (n.399+2796A>G) c.165+2796A>G (n.165+2796A>G) c.997A>G (p.Ile333Val) c.1003A>G (p.Ile335Val) c.715A>G (p.Ile239Val) c.*2715A>G (n.*2715A>G) | |
| 3 | g.15644853A>T | CA351607694 | BTD | c.937A>T (p.Ile313Leu) c.399+2796A>T (n.399+2796A>T) c.165+2796A>T (n.165+2796A>T) c.997A>T (p.Ile333Leu) c.1003A>T (p.Ile335Leu) c.715A>T (p.Ile239Leu) c.*2715A>T (n.*2715A>T) | |
| 3 | g.15644854T>A | CA351607696 | BTD | c.938T>A (p.Ile313Lys) c.399+2797T>A (n.399+2797T>A) c.165+2797T>A (n.165+2797T>A) c.998T>A (p.Ile333Lys) c.1004T>A (p.Ile335Lys) c.716T>A (p.Ile239Lys) c.*2716T>A (n.*2716T>A) | |
| 3 | g.15644854T>C | CA351607698 | BTD | c.938T>C (p.Ile313Thr) c.399+2797T>C (n.399+2797T>C) c.165+2797T>C (n.165+2797T>C) c.998T>C (p.Ile333Thr) c.1004T>C (p.Ile335Thr) c.716T>C (p.Ile239Thr) c.*2716T>C (n.*2716T>C) | |
| 3 | g.15644854T>G | CA351607700 | BTD | c.938T>G (p.Ile313Arg) c.399+2797T>G (n.399+2797T>G) c.165+2797T>G (n.165+2797T>G) c.998T>G (p.Ile333Arg) c.1004T>G (p.Ile335Arg) c.716T>G (p.Ile239Arg) c.*2716T>G (n.*2716T>G) | |
| 3 | g.15644855A= | CA1347664571 | BTD | c.939A= (p.Ile313=) c.399+2798A= (n.399+2798A=) c.165+2798A= (n.165+2798A=) c.999A= (p.Ile333=) c.1005A= (p.Ile335=) c.717A= (p.Ile239=) c.*2717A= (n.*2717A=) | |
| 3 | g.15644855A>C | CA432819167 | BTD | c.939A>C (p.Ile313=) c.399+2798A>C (n.399+2798A>C) c.165+2798A>C (n.165+2798A>C) c.999A>C (p.Ile333=) c.1005A>C (p.Ile335=) c.717A>C (p.Ile239=) c.*2717A>C (n.*2717A>C) | |
| 3 | g.15644855A>G | CA351607702 | BTD | c.939A>G (p.Ile313Met) c.399+2798A>G (n.399+2798A>G) c.165+2798A>G (n.165+2798A>G) c.999A>G (p.Ile333Met) c.1005A>G (p.Ile335Met) c.717A>G (p.Ile239Met) c.*2717A>G (n.*2717A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.15644855A>T | CA432819168 | BTD | c.939A>T (p.Ile313=) c.399+2798A>T (n.399+2798A>T) c.165+2798A>T (n.165+2798A>T) c.999A>T (p.Ile333=) c.1005A>T (p.Ile335=) c.717A>T (p.Ile239=) c.*2717A>T (n.*2717A>T) | |
| 3 | g.15644856A= | CA1347664575 | BTD | c.940A= (p.Ile314=) c.399+2799A= (n.399+2799A=) c.165+2799A= (n.165+2799A=) c.1000A= (p.Ile334=) c.1006A= (p.Ile336=) c.718A= (p.Ile240=) c.*2718A= (n.*2718A=) | |
| 3 | g.15644856A>C | CA351607704 | BTD | c.940A>C (p.Ile314Leu) c.399+2799A>C (n.399+2799A>C) c.165+2799A>C (n.165+2799A>C) c.1000A>C (p.Ile334Leu) c.1006A>C (p.Ile336Leu) c.718A>C (p.Ile240Leu) c.*2718A>C (n.*2718A>C) | |
| 3 | g.15644856A>G | CA351607708 | BTD | c.940A>G (p.Ile314Val) c.399+2799A>G (n.399+2799A>G) c.165+2799A>G (n.165+2799A>G) c.1000A>G (p.Ile334Val) c.1006A>G (p.Ile336Val) c.718A>G (p.Ile240Val) c.*2718A>G (n.*2718A>G) | dbSNP |
| 3 | g.15644856A>T | CA351607706 | BTD | c.940A>T (p.Ile314Phe) c.399+2799A>T (n.399+2799A>T) c.165+2799A>T (n.165+2799A>T) c.1000A>T (p.Ile334Phe) c.1006A>T (p.Ile336Phe) c.718A>T (p.Ile240Phe) c.*2718A>T (n.*2718A>T) | |
| 3 | g.15644856_15644858del | CA913102315 | BTD | c.940_942del (p.Ile314del) c.399+2799_399+2801del (n.399+2799_399+2801del) c.165+2799_165+2801del (n.165+2799_165+2801del) c.1000_1002del (p.Ile334del) c.1006_1008del (p.Ile336del) c.718_720del (p.Ile240del) c.*2718_*2720del (n.*2718_*2720del) | |
| 3 | g.15644856_15644858delinsATT | CA1347664577 | BTD | c.940_942delinsATT (p.Ile314=) c.399+2799_399+2801delinsATT (n.399+2799_399+2801delinsATT) c.165+2799_165+2801delinsATT (n.165+2799_165+2801delinsATT) c.1000_1002delinsATT (p.Ile334=) c.1006_1008delinsATT (p.Ile336=) c.718_720delinsATT (p.Ile240=) c.*2718_*2720delinsATT (n.*2718_*2720delinsATT) | |
| 3 | g.15644857T>A | CA278368 | BTD | c.941T>A (p.Ile314Asn) c.399+2800T>A (n.399+2800T>A) c.165+2800T>A (n.165+2800T>A) c.1001T>A (p.Ile334Asn) c.1007T>A (p.Ile336Asn) c.719T>A (p.Ile240Asn) c.*2719T>A (n.*2719T>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.15644857T>C | CA351607711 | BTD | c.941T>C (p.Ile314Thr) c.399+2800T>C (n.399+2800T>C) c.165+2800T>C (n.165+2800T>C) c.1001T>C (p.Ile334Thr) c.1007T>C (p.Ile336Thr) c.719T>C (p.Ile240Thr) c.*2719T>C (n.*2719T>C) | |
| 3 | g.15644857T>G | CA351607713 | BTD | c.941T>G (p.Ile314Ser) c.399+2800T>G (n.399+2800T>G) c.165+2800T>G (n.165+2800T>G) c.1001T>G (p.Ile334Ser) c.1007T>G (p.Ile336Ser) c.719T>G (p.Ile240Ser) c.*2719T>G (n.*2719T>G) | |
| 3 | g.15644857T= | CA1347664587 | BTD | c.941T= (p.Ile314=) c.399+2800T= (n.399+2800T=) c.165+2800T= (n.165+2800T=) c.1001T= (p.Ile334=) c.1007T= (p.Ile336=) c.719T= (p.Ile240=) c.*2719T= (n.*2719T=) | |
| 3 | g.15644857_15644858del | CA2277405 | BTD | c.941_942del (p.Ile314SerfsTer19) c.399+2800_399+2801del (n.399+2800_399+2801del) c.165+2800_165+2801del (n.165+2800_165+2801del) c.1001_1002del (p.Ile334SerfsTer19) c.1007_1008del (p.Ile336SerfsTer19) c.719_720del (p.Ile240SerfsTer19) c.*2719_*2720del (n.*2719_*2720del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15644858T>A | CA432819173 | BTD | c.942T>A (p.Ile314=) c.399+2801T>A (n.399+2801T>A) c.165+2801T>A (n.165+2801T>A) c.1002T>A (p.Ile334=) c.1008T>A (p.Ile336=) c.720T>A (p.Ile240=) c.*2720T>A (n.*2720T>A) | |
| 3 | g.15644858T>C | CA432819174 | BTD | c.942T>C (p.Ile314=) c.399+2801T>C (n.399+2801T>C) c.165+2801T>C (n.165+2801T>C) c.1002T>C (p.Ile334=) c.1008T>C (p.Ile336=) c.720T>C (p.Ile240=) c.*2720T>C (n.*2720T>C) | |
| 3 | g.15644858T>G | CA351607715 | BTD | c.942T>G (p.Ile314Met) c.399+2801T>G (n.399+2801T>G) c.165+2801T>G (n.165+2801T>G) c.1002T>G (p.Ile334Met) c.1008T>G (p.Ile336Met) c.720T>G (p.Ile240Met) c.*2720T>G (n.*2720T>G) | |
| 3 | g.15644859G>A | CA351607717 | BTD | c.943G>A (p.Ala315Thr) c.399+2802G>A (n.399+2802G>A) c.165+2802G>A (n.165+2802G>A) c.1003G>A (p.Ala335Thr) c.1009G>A (p.Ala337Thr) c.721G>A (p.Ala241Thr) c.*2721G>A (n.*2721G>A) | |
| 3 | g.15644859G>C | CA351607719 | BTD | c.943G>C (p.Ala315Pro) c.399+2802G>C (n.399+2802G>C) c.165+2802G>C (n.165+2802G>C) c.1003G>C (p.Ala335Pro) c.1009G>C (p.Ala337Pro) c.721G>C (p.Ala241Pro) c.*2721G>C (n.*2721G>C) | |
| 3 | g.15644859G>T | CA351607721 | BTD | c.943G>T (p.Ala315Ser) c.399+2802G>T (n.399+2802G>T) c.165+2802G>T (n.165+2802G>T) c.1003G>T (p.Ala335Ser) c.1009G>T (p.Ala337Ser) c.721G>T (p.Ala241Ser) c.*2721G>T (n.*2721G>T) | |
| 3 | g.15644860C>A | CA351607723 | BTD | c.944C>A (p.Ala315Asp) c.399+2803C>A (n.399+2803C>A) c.165+2803C>A (n.165+2803C>A) c.1004C>A (p.Ala335Asp) c.1010C>A (p.Ala337Asp) c.722C>A (p.Ala241Asp) c.*2722C>A (n.*2722C>A) | |
| 3 | g.15644860C= | CA1347664590 | BTD | c.944C= (p.Ala315=) c.399+2803C= (n.399+2803C=) c.165+2803C= (n.165+2803C=) c.1004C= (p.Ala335=) c.1010C= (p.Ala337=) c.722C= (p.Ala241=) c.*2722C= (n.*2722C=) | |
| 3 | g.15644860C>G | CA351607725 | BTD | c.944C>G (p.Ala315Gly) c.399+2803C>G (n.399+2803C>G) c.165+2803C>G (n.165+2803C>G) c.1004C>G (p.Ala335Gly) c.1010C>G (p.Ala337Gly) c.722C>G (p.Ala241Gly) c.*2722C>G (n.*2722C>G) | |
| 3 | g.15644860C>T | CA351607727 | BTD | c.944C>T (p.Ala315Val) c.399+2803C>T (n.399+2803C>T) c.165+2803C>T (n.165+2803C>T) c.1004C>T (p.Ala335Val) c.1010C>T (p.Ala337Val) c.722C>T (p.Ala241Val) c.*2722C>T (n.*2722C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644861C>A | CA432819179 | BTD | c.945C>A (p.Ala315=) c.399+2804C>A (n.399+2804C>A) c.165+2804C>A (n.165+2804C>A) c.1005C>A (p.Ala335=) c.1011C>A (p.Ala337=) c.723C>A (p.Ala241=) c.*2723C>A (n.*2723C>A) | |
| 3 | g.15644861C>G | CA432819180 | BTD | c.945C>G (p.Ala315=) c.399+2804C>G (n.399+2804C>G) c.165+2804C>G (n.165+2804C>G) c.1005C>G (p.Ala335=) c.1011C>G (p.Ala337=) c.723C>G (p.Ala241=) c.*2723C>G (n.*2723C>G) | gnomAD v4 |
| 3 | g.15644861C>T | CA432819182 | BTD | c.945C>T (p.Ala315=) c.399+2804C>T (n.399+2804C>T) c.165+2804C>T (n.165+2804C>T) c.1005C>T (p.Ala335=) c.1011C>T (p.Ala337=) c.723C>T (p.Ala241=) c.*2723C>T (n.*2723C>T) | |
| 3 | g.15644862C>A | CA351607729 | BTD | c.946C>A (p.Gln316Lys) c.399+2805C>A (n.399+2805C>A) c.165+2805C>A (n.165+2805C>A) c.1006C>A (p.Gln336Lys) c.1012C>A (p.Gln338Lys) c.724C>A (p.Gln242Lys) c.*2724C>A (n.*2724C>A) | |
| 3 | g.15644862C= | CA1347664592 | BTD | c.946C= (p.Gln316=) c.399+2805C= (n.399+2805C=) c.165+2805C= (n.165+2805C=) c.1006C= (p.Gln336=) c.1012C= (p.Gln338=) c.724C= (p.Gln242=) c.*2724C= (n.*2724C=) | |
| 3 | g.15644862C>G | CA351607731 | BTD | c.946C>G (p.Gln316Glu) c.399+2805C>G (n.399+2805C>G) c.165+2805C>G (n.165+2805C>G) c.1006C>G (p.Gln336Glu) c.1012C>G (p.Gln338Glu) c.724C>G (p.Gln242Glu) c.*2724C>G (n.*2724C>G) | |
| 3 | g.15644862C>T | CA351607733 | BTD | c.946C>T (p.Gln316Ter) c.399+2805C>T (n.399+2805C>T) c.165+2805C>T (n.165+2805C>T) c.1006C>T (p.Gln336Ter) c.1012C>T (p.Gln338Ter) c.724C>T (p.Gln242Ter) c.*2724C>T (n.*2724C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15644863A= | CA1347664596 | BTD | c.947A= (p.Gln316=) c.399+2806A= (n.399+2806A=) c.165+2806A= (n.165+2806A=) c.1007A= (p.Gln336=) c.1013A= (p.Gln338=) c.725A= (p.Gln242=) c.*2725A= (n.*2725A=) | |
| 3 | g.15644863A>C | CA351607738 | BTD | c.947A>C (p.Gln316Pro) c.399+2806A>C (n.399+2806A>C) c.165+2806A>C (n.165+2806A>C) c.1007A>C (p.Gln336Pro) c.1013A>C (p.Gln338Pro) c.725A>C (p.Gln242Pro) c.*2725A>C (n.*2725A>C) | |
| 3 | g.15644863A>G | CA2277406 | BTD | c.947A>G (p.Gln316Arg) c.399+2806A>G (n.399+2806A>G) c.165+2806A>G (n.165+2806A>G) c.1007A>G (p.Gln336Arg) c.1013A>G (p.Gln338Arg) c.725A>G (p.Gln242Arg) c.*2725A>G (n.*2725A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15644863A>T | CA351607736 | BTD | c.947A>T (p.Gln316Leu) c.399+2806A>T (n.399+2806A>T) c.165+2806A>T (n.165+2806A>T) c.1007A>T (p.Gln336Leu) c.1013A>T (p.Gln338Leu) c.725A>T (p.Gln242Leu) c.*2725A>T (n.*2725A>T) | |
| 3 | g.15644864G>A | CA432819188 | BTD | c.948G>A (p.Gln316=) c.399+2807G>A (n.399+2807G>A) c.165+2807G>A (n.165+2807G>A) c.1008G>A (p.Gln336=) c.1014G>A (p.Gln338=) c.726G>A (p.Gln242=) c.*2726G>A (n.*2726G>A) | |
| 3 | g.15644864G>C | CA351607740 | BTD | c.948G>C (p.Gln316His) c.399+2807G>C (n.399+2807G>C) c.165+2807G>C (n.165+2807G>C) c.1008G>C (p.Gln336His) c.1014G>C (p.Gln338His) c.726G>C (p.Gln242His) c.*2726G>C (n.*2726G>C) | |
| 3 | g.15644864G>T | CA351607742 | BTD | c.948G>T (p.Gln316His) c.399+2807G>T (n.399+2807G>T) c.165+2807G>T (n.165+2807G>T) c.1008G>T (p.Gln336His) c.1014G>T (p.Gln338His) c.726G>T (p.Gln242His) c.*2726G>T (n.*2726G>T) | |
| 3 | g.15644865G>A | CA351607744 | BTD | c.949G>A (p.Val317Met) c.399+2808G>A (n.399+2808G>A) c.165+2808G>A (n.165+2808G>A) c.1009G>A (p.Val337Met) c.1015G>A (p.Val339Met) c.727G>A (p.Val243Met) c.*2727G>A (n.*2727G>A) | dbSNP |
| 3 | g.15644865G>C | CA351607746 | BTD | c.949G>C (p.Val317Leu) c.399+2808G>C (n.399+2808G>C) c.165+2808G>C (n.165+2808G>C) c.1009G>C (p.Val337Leu) c.1015G>C (p.Val339Leu) c.727G>C (p.Val243Leu) c.*2727G>C (n.*2727G>C) | |
| 3 | g.15644865G= | CA1347664599 | BTD | c.949G= (p.Val317=) c.399+2808G= (n.399+2808G=) c.165+2808G= (n.165+2808G=) c.1009G= (p.Val337=) c.1015G= (p.Val339=) c.727G= (p.Val243=) c.*2727G= (n.*2727G=) | |
| 3 | g.15644865G>T | CA351607748 | BTD | c.949G>T (p.Val317Leu) c.399+2808G>T (n.399+2808G>T) c.165+2808G>T (n.165+2808G>T) c.1009G>T (p.Val337Leu) c.1015G>T (p.Val339Leu) c.727G>T (p.Val243Leu) c.*2727G>T (n.*2727G>T) | gnomAD v4 |