Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47337564C>A | CA012244 | MYBPC3 | c.2429G>T (p.Arg810Leu) c.2414-53G>T (n.2414-53G>T) c.2411G>T (p.Arg804Leu) c.2348G>T (p.Arg783Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47337564C= | CA1969340365 | MYBPC3 | c.2429G= (p.Arg810=) c.2414-53G= (n.2414-53G=) c.2411G= (p.Arg804=) c.2348G= (p.Arg783=) | |
11 | g.47337564C>G | CA380318494 | MYBPC3 | c.2429G>C (p.Arg810Pro) c.2414-53G>C (n.2414-53G>C) c.2411G>C (p.Arg804Pro) c.2348G>C (p.Arg783Pro) | dbSNP |
11 | g.47337564C>T | CA012237 | MYBPC3 | c.2429G>A (p.Arg810His) c.2414-53G>A (n.2414-53G>A) c.2411G>A (p.Arg804His) c.2348G>A (p.Arg783His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337565G>A | CA380318498 | MYBPC3 | c.2428C>T (p.Arg810Cys) c.2414-54C>T (n.2414-54C>T) c.2410C>T (p.Arg804Cys) c.2347C>T (p.Arg783Cys) | gnomAD v4 |
11 | g.47337565G>C | CA380318500 | MYBPC3 | c.2428C>G (p.Arg810Gly) c.2414-54C>G (n.2414-54C>G) c.2410C>G (p.Arg804Gly) c.2347C>G (p.Arg783Gly) | ClinVar dbSNP |
11 | g.47337565G= | CA1969340368 | MYBPC3 | c.2428C= (p.Arg810=) c.2414-54C= (n.2414-54C=) c.2410C= (p.Arg804=) c.2347C= (p.Arg783=) | |
11 | g.47337565G>T | CA380318502 | MYBPC3 | c.2428C>A (p.Arg810Ser) c.2414-54C>A (n.2414-54C>A) c.2410C>A (p.Arg804Ser) c.2347C>A (p.Arg783Ser) | |
11 | g.47337566C>A | CA380318505 | MYBPC3 | c.2427G>T (p.Glu809Asp) c.2414-55G>T (n.2414-55G>T) c.2409G>T (p.Glu803Asp) c.2346G>T (p.Glu782Asp) | |
11 | g.47337566C>G | CA380318507 | MYBPC3 | c.2427G>C (p.Glu809Asp) c.2414-55G>C (n.2414-55G>C) c.2409G>C (p.Glu803Asp) c.2346G>C (p.Glu782Asp) | |
11 | g.47337566C>T | CA474429362 | MYBPC3 | c.2427G>A (p.Glu809=) c.2414-55G>A (n.2414-55G>A) c.2409G>A (p.Glu803=) c.2346G>A (p.Glu782=) | |
11 | g.47337567T>A | CA380318510 | MYBPC3 | c.2426A>T (p.Glu809Val) c.2414-56A>T (n.2414-56A>T) c.2408A>T (p.Glu803Val) c.2345A>T (p.Glu782Val) | |
11 | g.47337567T>C | CA078730 | MYBPC3 | c.2426A>G (p.Glu809Gly) c.2414-56A>G (n.2414-56A>G) c.2408A>G (p.Glu803Gly) c.2345A>G (p.Glu782Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47337567T>G | CA380318512 | MYBPC3 | c.2426A>C (p.Glu809Ala) c.2414-56A>C (n.2414-56A>C) c.2408A>C (p.Glu803Ala) c.2345A>C (p.Glu782Ala) | |
11 | g.47337567T= | CA1969340370 | MYBPC3 | c.2426A= (p.Glu809=) c.2414-56A= (n.2414-56A=) c.2408A= (p.Glu803=) c.2345A= (p.Glu782=) | |
11 | g.47337568C>A | CA380318516 | MYBPC3 | c.2425G>T (p.Glu809Ter) c.2414-57G>T (n.2414-57G>T) c.2407G>T (p.Glu803Ter) c.2344G>T (p.Glu782Ter) | |
11 | g.47337568C= | CA1969340372 | MYBPC3 | c.2425G= (p.Glu809=) c.2414-57G= (n.2414-57G=) c.2407G= (p.Glu803=) c.2344G= (p.Glu782=) | |
11 | g.47337568C>G | CA380318518 | MYBPC3 | c.2425G>C (p.Glu809Gln) c.2414-57G>C (n.2414-57G>C) c.2407G>C (p.Glu803Gln) c.2344G>C (p.Glu782Gln) | ClinVar |
11 | g.47337568C>T | CA380318521 | MYBPC3 | c.2425G>A (p.Glu809Lys) c.2414-57G>A (n.2414-57G>A) c.2407G>A (p.Glu803Lys) c.2344G>A (p.Glu782Lys) | ClinVar dbSNP |
11 | g.47337569C>A | CA474429365 | MYBPC3 | c.2424G>T (p.Leu808=) c.2414-58G>T (n.2414-58G>T) c.2406G>T (p.Leu802=) c.2343G>T (p.Leu781=) | |
11 | g.47337569C>G | CA474429364 | MYBPC3 | c.2424G>C (p.Leu808=) c.2414-58G>C (n.2414-58G>C) c.2406G>C (p.Leu802=) c.2343G>C (p.Leu781=) | |
11 | g.47337569C>T | CA474429363 | MYBPC3 | c.2424G>A (p.Leu808=) c.2414-58G>A (n.2414-58G>A) c.2406G>A (p.Leu802=) c.2343G>A (p.Leu781=) | |
11 | g.47337570A>C | CA380318523 | MYBPC3 | c.2423T>G (p.Leu808Arg) c.2414-59T>G (n.2414-59T>G) c.2405T>G (p.Leu802Arg) c.2342T>G (p.Leu781Arg) | |
11 | g.47337570A>G | CA380318525 | MYBPC3 | c.2423T>C (p.Leu808Pro) c.2414-59T>C (n.2414-59T>C) c.2405T>C (p.Leu802Pro) c.2342T>C (p.Leu781Pro) | ClinVar dbSNP |
11 | g.47337570A>T | CA380318527 | MYBPC3 | c.2423T>A (p.Leu808Gln) c.2414-59T>A (n.2414-59T>A) c.2405T>A (p.Leu802Gln) c.2342T>A (p.Leu781Gln) | |
11 | g.47337571G>A | CA474429366 | MYBPC3 | c.2422C>T (p.Leu808=) c.2414-60C>T (n.2414-60C>T) c.2404C>T (p.Leu802=) c.2341C>T (p.Leu781=) | gnomAD v4 |
11 | g.47337571G>C | CA380318530 | MYBPC3 | c.2422C>G (p.Leu808Val) c.2414-60C>G (n.2414-60C>G) c.2404C>G (p.Leu802Val) c.2341C>G (p.Leu781Val) | |
11 | g.47337571G>T | CA380318531 | MYBPC3 | c.2422C>A (p.Leu808Met) c.2414-60C>A (n.2414-60C>A) c.2404C>A (p.Leu802Met) c.2341C>A (p.Leu781Met) | |
11 | g.47337572G>A | CA474429367 | MYBPC3 | c.2421C>T (p.Ile807=) c.2414-61C>T (n.2414-61C>T) c.2403C>T (p.Ile801=) c.2340C>T (p.Ile780=) | |
11 | g.47337572G>C | CA380318535 | MYBPC3 | c.2421C>G (p.Ile807Met) c.2414-61C>G (n.2414-61C>G) c.2403C>G (p.Ile801Met) c.2340C>G (p.Ile780Met) | |
11 | g.47337572G>T | CA474429368 | MYBPC3 | c.2421C>A (p.Ile807=) c.2414-61C>A (n.2414-61C>A) c.2403C>A (p.Ile801=) c.2340C>A (p.Ile780=) | |
11 | g.47337573A= | CA1969340374 | MYBPC3 | c.2420T= (p.Ile807=) c.2414-62T= (n.2414-62T=) c.2402T= (p.Ile801=) c.2339T= (p.Ile780=) | |
11 | g.47337573A>C | CA380318537 | MYBPC3 | c.2420T>G (p.Ile807Ser) c.2414-62T>G (n.2414-62T>G) c.2402T>G (p.Ile801Ser) c.2339T>G (p.Ile780Ser) | |
11 | g.47337573A>G | CA380318539 | MYBPC3 | c.2420T>C (p.Ile807Thr) c.2414-62T>C (n.2414-62T>C) c.2402T>C (p.Ile801Thr) c.2339T>C (p.Ile780Thr) | |
11 | g.47337573A>T | CA380318541 | MYBPC3 | c.2420T>A (p.Ile807Asn) c.2414-62T>A (n.2414-62T>A) c.2402T>A (p.Ile801Asn) c.2339T>A (p.Ile780Asn) | dbSNP gnomAD v4 |
11 | g.47337574T>A | CA380318543 | MYBPC3 | c.2419A>T (p.Ile807Phe) c.2414-63A>T (n.2414-63A>T) c.2401A>T (p.Ile801Phe) c.2338A>T (p.Ile780Phe) | gnomAD v4 |
11 | g.47337574T>C | CA380318544 | MYBPC3 | c.2419A>G (p.Ile807Val) c.2414-63A>G (n.2414-63A>G) c.2401A>G (p.Ile801Val) c.2338A>G (p.Ile780Val) | gnomAD v4 |
11 | g.47337574T>G | CA380318542 | MYBPC3 | c.2419A>C (p.Ile807Leu) c.2414-63A>C (n.2414-63A>C) c.2401A>C (p.Ile801Leu) c.2338A>C (p.Ile780Leu) | |
11 | g.47337575G>A | CA474429369 | MYBPC3 | c.2418C>T (p.Tyr806=) c.2414-64C>T (n.2414-64C>T) c.2400C>T (p.Tyr800=) c.2337C>T (p.Tyr779=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47337575G>C | CA380318546 | MYBPC3 | c.2418C>G (p.Tyr806Ter) c.2414-64C>G (n.2414-64C>G) c.2400C>G (p.Tyr800Ter) c.2337C>G (p.Tyr779Ter) | |
11 | g.47337575G= | CA1969340375 | MYBPC3 | c.2418C= (p.Tyr806=) c.2414-64C= (n.2414-64C=) c.2400C= (p.Tyr800=) c.2337C= (p.Tyr779=) | |
11 | g.47337575G>T | CA380318545 | MYBPC3 | c.2418C>A (p.Tyr806Ter) c.2414-64C>A (n.2414-64C>A) c.2400C>A (p.Tyr800Ter) c.2337C>A (p.Tyr779Ter) | |
11 | g.47337576T>A | CA380318547 | MYBPC3 | c.2417A>T (p.Tyr806Phe) c.2414-65A>T (n.2414-65A>T) c.2399A>T (p.Tyr800Phe) c.2336A>T (p.Tyr779Phe) | |
11 | g.47337576T>C | CA221688707 | MYBPC3 | c.2417A>G (p.Tyr806Cys) c.2414-65A>G (n.2414-65A>G) c.2399A>G (p.Tyr800Cys) c.2336A>G (p.Tyr779Cys) | ClinVar dbSNP gnomAD v4 |
11 | g.47337576T>G | CA380318548 | MYBPC3 | c.2417A>C (p.Tyr806Ser) c.2414-65A>C (n.2414-65A>C) c.2399A>C (p.Tyr800Ser) c.2336A>C (p.Tyr779Ser) | |
11 | g.47337576T= | CA1969340377 | MYBPC3 | c.2417A= (p.Tyr806=) c.2414-65A= (n.2414-65A=) c.2399A= (p.Tyr800=) c.2336A= (p.Tyr779=) | |
11 | g.47337577A>C | CA380318549 | MYBPC3 | c.2416T>G (p.Tyr806Asp) c.2414-66T>G (n.2414-66T>G) c.2398T>G (p.Tyr800Asp) c.2335T>G (p.Tyr779Asp) | |
11 | g.47337577A>G | CA380318550 | MYBPC3 | c.2416T>C (p.Tyr806His) c.2414-66T>C (n.2414-66T>C) c.2398T>C (p.Tyr800His) c.2335T>C (p.Tyr779His) | |
11 | g.47337577A>T | CA380318551 | MYBPC3 | c.2416T>A (p.Tyr806Asn) c.2414-66T>A (n.2414-66T>A) c.2398T>A (p.Tyr800Asn) c.2335T>A (p.Tyr779Asn) | |
11 | g.47337577dup | CA2739270435 | MYBPC3 | c.2416dup (p.Tyr806LeufsTer27) c.2414-66dup (n.2414-66dup) c.2398dup (p.Tyr800LeufsTer27) c.2335dup (p.Tyr779LeufsTer27) |