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 |
|---|---|---|---|---|---|
| 14 | g.23431680_23431762del | CA2800875286 | MYH7 | c.639+2_640del n.745+2_746del | |
| 14 | g.23431735del | CA2624251659 | MYH7 | c.639+26del (n.639+26del) n.745+26del | gnomAD v4 |
| 14 | g.23431735A>C | CA2575486845 | MYH7 | c.639+26T>G (n.639+26T>G) n.745+26T>G | gnomAD v4 |
| 14 | g.23431735A>G | CA2575486846 | MYH7 | c.639+26T>C (n.639+26T>C) n.745+26T>C | |
| 14 | g.23431736G>A | CA048569 | MYH7 | c.639+25C>T (n.639+25C>T) n.745+25C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431736G= | CA2123452437 | MYH7 | c.639+25C= (n.639+25C=) n.745+25C= | |
| 14 | g.23431737G>A | CA961070423 | MYH7 | c.639+24C>T (n.639+24C>T) n.745+24C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431737G= | CA2123452443 | MYH7 | c.639+24C= (n.639+24C=) n.745+24C= | |
| 14 | g.23431739C>A | CA2624251666 | MYH7 | c.639+22G>T (n.639+22G>T) n.745+22G>T | gnomAD v4 |
| 14 | g.23431740C>A | CA961070425 | MYH7 | c.639+21G>T (n.639+21G>T) n.745+21G>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431740C= | CA2123452447 | MYH7 | c.639+21G= (n.639+21G=) n.745+21G= | |
| 14 | g.23431740C>G | CA2123452446 | MYH7 | c.639+21G>C (n.639+21G>C) n.745+21G>C | dbSNP |
| 14 | g.23431740C>T | CA2123452445 | MYH7 | c.639+21G>A (n.639+21G>A) n.745+21G>A | dbSNP gnomAD v4 |
| 14 | g.23431741T>C | CA016581 | MYH7 | c.639+20A>G (n.639+20A>G) n.745+20A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431741T= | CA2123452451 | MYH7 | c.639+20A= (n.639+20A=) n.745+20A= | |
| 14 | g.23431743G>T | CA2575486849 | MYH7 | c.639+18C>A (n.639+18C>A) n.745+18C>A | |
| 14 | g.23431744G>A | CA2624251672 | MYH7 | c.639+17C>T (n.639+17C>T) n.745+17C>T | gnomAD v4 |
| 14 | g.23431746G>A | CA613317791 | MYH7 | c.639+15C>T (n.639+15C>T) n.745+15C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431746G= | CA2123452458 | MYH7 | c.639+15C= (n.639+15C=) n.745+15C= | |
| 14 | g.23431747G>A | CA048543 | MYH7 | c.639+14C>T (n.639+14C>T) n.745+14C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431747G= | CA2123452462 | MYH7 | c.639+14C= (n.639+14C=) n.745+14C= | |
| 14 | g.23431748G>A | CA613317792 | MYH7 | c.639+13C>T (n.639+13C>T) n.745+13C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431748G= | CA2123452469 | MYH7 | c.639+13C= (n.639+13C=) n.745+13C= | |
| 14 | g.23431749C>A | CA2580088028 | MYH7 | c.639+12G>T (n.639+12G>T) n.745+12G>T | ClinVar |
| 14 | g.23431749C>G | CA2575486850 | MYH7 | c.639+12G>C (n.639+12G>C) n.745+12G>C | |
| 14 | g.23431752C>A | CA048608 | MYH7 | c.639+9G>T (n.639+9G>T) n.745+9G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431752C= | CA2123452474 | MYH7 | c.639+9G= (n.639+9G=) n.745+9G= | |
| 14 | g.23431752C>T | CA658798183 | MYH7 | c.639+9G>A (n.639+9G>A) n.745+9G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431755G>A | CA613317793 | MYH7 | c.639+6C>T (n.639+6C>T) n.745+6C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431755G= | CA2123452479 | MYH7 | c.639+6C= (n.639+6C=) n.745+6C= | |
| 14 | g.23431756C>A | CA048600 | MYH7 | c.639+5G>T (n.639+5G>T) n.745+5G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431756C= | CA2123452492 | MYH7 | c.639+5G= (n.639+5G=) n.745+5G= | |
| 14 | g.23431756C>G | CA2575486852 | MYH7 | c.639+5G>C (n.639+5G>C) n.745+5G>C | |
| 14 | g.23431757C= | CA2123452496 | MYH7 | c.639+4G= (n.639+4G=) n.745+4G= | |
| 14 | g.23431757C>G | CA961070433 | MYH7 | c.639+4G>C (n.639+4G>C) n.745+4G>C | dbSNP gnomAD v4 |
| 14 | g.23431759A>C | CA389052361 | MYH7 | c.639+2T>G (n.639+2T>G) n.745+2T>G | |
| 14 | g.23431759A>G | CA389052359 | MYH7 | c.639+2T>C (n.639+2T>C) n.745+2T>C | gnomAD v4 |
| 14 | g.23431759A>T | CA389052360 | MYH7 | c.639+2T>A (n.639+2T>A) n.745+2T>A | |
| 14 | g.23431760C>A | CA389052362 | MYH7 | c.639+1G>T (n.639+1G>T) n.745+1G>T | ClinVar |
| 14 | g.23431760C>G | CA389052363 | MYH7 | c.639+1G>C (n.639+1G>C) n.745+1G>C | |
| 14 | g.23431760C>T | CA389052364 | MYH7 | c.639+1G>A (n.639+1G>A) n.745+1G>A | COSMIC |
| 14 | g.23431761C>A | CA389052365 | MYH7 | c.639G>T (p.Lys213Asn) n.745G>T | |
| 14 | g.23431761C= | CA2123452508 | MYH7 | c.639G= (p.Lys213=) n.745G= | |
| 14 | g.23431761C>G | CA389052366 | MYH7 | c.639G>C (p.Lys213Asn) n.745G>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431761C>T | CA485767376 | MYH7 | c.639G>A (p.Lys213=) n.745G>A | dbSNP |
| 14 | g.23431762T>A | CA389052367 | MYH7 | c.638A>T (p.Lys213Met) n.744A>T | |
| 14 | g.23431762T>C | CA389052368 | MYH7 | c.638A>G (p.Lys213Arg) n.744A>G | |
| 14 | g.23431762T>G | CA389052369 | MYH7 | c.638A>C (p.Lys213Thr) n.744A>C | |
| 14 | g.23431763T>A | CA389052370 | MYH7 | c.637A>T (p.Lys213Ter) n.743A>T | |
| 14 | g.23431763T>C | CA389052371 | MYH7 | c.637A>G (p.Lys213Glu) n.743A>G | ClinVar dbSNP |
| 14 | g.23431763T>G | CA389052372 | MYH7 | c.637A>C (p.Lys213Gln) n.743A>C | ClinVar |
| 14 | g.23431763T= | CA2123452522 | MYH7 | c.637A= (p.Lys213=) n.743A= | |
| 14 | g.23431764G>A | CA485767377 | MYH7 | c.636C>T (p.Gly212=) n.742C>T | |
| 14 | g.23431764G>C | CA485767378 | MYH7 | c.636C>G (p.Gly212=) n.742C>G | |
| 14 | g.23431764G= | CA2123452530 | MYH7 | c.636C= (p.Gly212=) n.742C= | |
| 14 | g.23431764G>T | CA485767379 | MYH7 | c.636C>A (p.Gly212=) n.742C>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431765C>A | CA389052374 | MYH7 | c.635G>T (p.Gly212Val) n.741G>T | |
| 14 | g.23431765C= | CA2123452536 | MYH7 | c.635G= (p.Gly212=) n.741G= | |
| 14 | g.23431765C>G | CA389052373 | MYH7 | c.635G>C (p.Gly212Ala) n.741G>C | |
| 14 | g.23431765C>T | CA10577514 | MYH7 | c.635G>A (p.Gly212Asp) n.741G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431766C>A | CA389052375 | MYH7 | c.634G>T (p.Gly212Cys) n.740G>T | |
| 14 | g.23431766C= | CA2123452549 | MYH7 | c.634G= (p.Gly212=) n.740G= | |
| 14 | g.23431766C>G | CA389052376 | MYH7 | c.634G>C (p.Gly212Arg) n.740G>C | |
| 14 | g.23431766C>T | CA389052377 | MYH7 | c.634G>A (p.Gly212Ser) n.740G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 14 | g.23431767C>A | CA485767380 | MYH7 | c.633G>T (p.Pro211=) n.739G>T | |
| 14 | g.23431767C= | CA2123452557 | MYH7 | c.633G= (p.Pro211=) n.739G= | |
| 14 | g.23431767C>G | CA485767381 | MYH7 | c.633G>C (p.Pro211=) n.739G>C | |
| 14 | g.23431767C>T | CA016574 | MYH7 | c.633G>A (p.Pro211=) n.739G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23431768G>A | CA016570 | MYH7 | c.632C>T (p.Pro211Leu) n.738C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431768G>C | CA389052378 | MYH7 | c.632C>G (p.Pro211Arg) n.738C>G | COSMIC |
| 14 | g.23431768G= | CA2123452563 | MYH7 | c.632C= (p.Pro211=) n.738C= | |
| 14 | g.23431768G>T | CA389052379 | MYH7 | c.632C>A (p.Pro211Gln) n.738C>A | |
| 14 | g.23431769G>A | CA389052380 | MYH7 | c.631C>T (p.Pro211Ser) n.737C>T | |
| 14 | g.23431769G>C | CA389052381 | MYH7 | c.631C>G (p.Pro211Ala) n.737C>G | |
| 14 | g.23431769G>T | CA389052382 | MYH7 | c.631C>A (p.Pro211Thr) n.737C>A | |
| 14 | g.23431770G>A | CA485767382 | MYH7 | c.630C>T (p.Ser210=) n.736C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431770G>C | CA389052383 | MYH7 | c.630C>G (p.Ser210Arg) n.736C>G | |
| 14 | g.23431770G= | CA2123452571 | MYH7 | c.630C= (p.Ser210=) n.736C= | |
| 14 | g.23431770G>T | CA389052384 | MYH7 | c.630C>A (p.Ser210Arg) n.736C>A | ClinVar |
| 14 | g.23431771C>A | CA389052387 | MYH7 | c.629G>T (p.Ser210Ile) n.735G>T | |
| 14 | g.23431771C>G | CA389052386 | MYH7 | c.629G>C (p.Ser210Thr) n.735G>C | |
| 14 | g.23431771C>T | CA389052385 | MYH7 | c.629G>A (p.Ser210Asn) n.735G>A | |
| 14 | g.23431772T>A | CA389052388 | MYH7 | c.628A>T (p.Ser210Cys) n.734A>T | |
| 14 | g.23431772T>C | CA389052389 | MYH7 | c.628A>G (p.Ser210Gly) n.734A>G | gnomAD v4 |
| 14 | g.23431772T>G | CA389052390 | MYH7 | c.628A>C (p.Ser210Arg) n.734A>C | |
| 14 | g.23431773C>A | CA389052391 | MYH7 | c.627G>T (p.Gln209His) n.733G>T | |
| 14 | g.23431773C= | CA2123452584 | MYH7 | c.627G= (p.Gln209=) n.733G= | |
| 14 | g.23431773C>G | CA389052392 | MYH7 | c.627G>C (p.Gln209His) n.733G>C | ClinVar dbSNP |
| 14 | g.23431773C>T | CA257826030 | MYH7 | c.627G>A (p.Gln209=) n.733G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431774T>A | CA389052393 | MYH7 | c.626A>T (p.Gln209Leu) n.732A>T | |
| 14 | g.23431774T>C | CA389052394 | MYH7 | c.626A>G (p.Gln209Arg) n.732A>G | |
| 14 | g.23431774T>G | CA389052395 | MYH7 | c.626A>C (p.Gln209Pro) n.732A>C | |
| 14 | g.23431775G>A | CA389052396 | MYH7 | c.625C>T (p.Gln209Ter) n.731C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431775G>C | CA389052397 | MYH7 | c.625C>G (p.Gln209Glu) n.731C>G | |
| 14 | g.23431775G= | CA2123452595 | MYH7 | c.625C= (p.Gln209=) n.731C= | |
| 14 | g.23431775G>T | CA10583174 | MYH7 | c.625C>A (p.Gln209Lys) n.731C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431776G>A | CA485767383 | MYH7 | c.624C>T (p.Asp208=) n.730C>T | |
| 14 | g.23431776G>C | CA389052398 | MYH7 | c.624C>G (p.Asp208Glu) n.730C>G | |
| 14 | g.23431776G>T | CA389052399 | MYH7 | c.624C>A (p.Asp208Glu) n.730C>A | |
| 14 | g.23431777T>A | CA389052402 | MYH7 | c.623A>T (p.Asp208Val) n.729A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431777T>C | CA389052401 | MYH7 | c.623A>G (p.Asp208Gly) n.729A>G | |
| 14 | g.23431777T>G | CA389052400 | MYH7 | c.623A>C (p.Asp208Ala) n.729A>C | ClinVar |
| 14 | g.23431777T= | CA2123452603 | MYH7 | c.623A= (p.Asp208=) n.729A= | |
| 14 | g.23431778C>A | CA389052404 | MYH7 | c.622G>T (p.Asp208Tyr) n.728G>T | |
| 14 | g.23431778C>G | CA389052403 | MYH7 | c.622G>C (p.Asp208His) n.728G>C | |
| 14 | g.23431778C>T | CA389052405 | MYH7 | c.622G>A (p.Asp208Asn) n.728G>A | |
| 14 | g.23431778_23431781delinsCCTT | CA2123452608 | MYH7 | c.619_622delinsAAGG (p.Lys207=) n.725_728delinsAAGG | |
| 14 | g.23431779C>A | CA389052406 | MYH7 | c.621G>T (p.Lys207Asn) n.727G>T | |
| 14 | g.23431779C= | CA2123452617 | MYH7 | c.621G= (p.Lys207=) n.727G= | |
| 14 | g.23431779C>G | CA389052407 | MYH7 | c.621G>C (p.Lys207Asn) n.727G>C | |
| 14 | g.23431779C>T | CA485767384 | MYH7 | c.621G>A (p.Lys207=) n.727G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431782_23431784del | CA915948851 | MYH7 | c.619_621del (p.Lys207del) n.725_727del | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431780T>A | CA389052408 | MYH7 | c.620A>T (p.Lys207Met) n.726A>T | |
| 14 | g.23431780T>C | CA389052409 | MYH7 | c.620A>G (p.Lys207Arg) n.726A>G | |
| 14 | g.23431780T>G | CA389052410 | MYH7 | c.620A>C (p.Lys207Thr) n.726A>C | |
| 14 | g.23431781T>A | CA389052411 | MYH7 | c.619A>T (p.Lys207Ter) n.725A>T | |
| 14 | g.23431781T>C | CA389052412 | MYH7 | c.619A>G (p.Lys207Glu) n.725A>G | |
| 14 | g.23431781T>G | CA016563 | MYH7 | c.619A>C (p.Lys207Gln) n.725A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431781T= | CA2123452620 | MYH7 | c.619A= (p.Lys207=) n.725A= | |
| 14 | g.23431782C>A | CA389052413 | MYH7 | c.618G>T (p.Lys206Asn) n.724G>T | |
| 14 | g.23431782C>G | CA389052414 | MYH7 | c.618G>C (p.Lys206Asn) n.724G>C | |
| 14 | g.23431782C>T | CA485767385 | MYH7 | c.618G>A (p.Lys206=) n.724G>A | |
| 14 | g.23431783T>A | CA389052415 | MYH7 | c.617A>T (p.Lys206Met) n.723A>T | |
| 14 | g.23431783T>C | CA016559 | MYH7 | c.617A>G (p.Lys206Arg) n.723A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.23431783T>G | CA389052416 | MYH7 | c.617A>C (p.Lys206Thr) n.723A>C | |
| 14 | g.23431783T= | CA2123452627 | MYH7 | c.617A= (p.Lys206=) n.723A= | |
| 14 | g.23431784T>A | CA389052419 | MYH7 | c.616A>T (p.Lys206Ter) n.722A>T | |
| 14 | g.23431784T>C | CA389052417 | MYH7 | c.616A>G (p.Lys206Glu) n.722A>G | |
| 14 | g.23431784T>G | CA389052418 | MYH7 | c.616A>C (p.Lys206Gln) n.722A>C | ClinVar dbSNP |
| 14 | g.23431785G>A | CA485767386 | MYH7 | c.615C>T (p.Ser205=) n.721C>T | |
| 14 | g.23431785G>C | CA389052420 | MYH7 | c.615C>G (p.Ser205Arg) n.721C>G | ClinVar |
| 14 | g.23431785G>T | CA389052421 | MYH7 | c.615C>A (p.Ser205Arg) n.721C>A | ClinVar |
| 14 | g.23431786C>A | CA389052422 | MYH7 | c.614G>T (p.Ser205Ile) n.720G>T | |
| 14 | g.23431786C>G | CA389052423 | MYH7 | c.614G>C (p.Ser205Thr) n.720G>C | |
| 14 | g.23431786C>T | CA389052424 | MYH7 | c.614G>A (p.Ser205Asn) n.720G>A | |
| 14 | g.23431787T>A | CA389052425 | MYH7 | c.613A>T (p.Ser205Cys) n.719A>T | |
| 14 | g.23431787T>C | CA389052426 | MYH7 | c.613A>G (p.Ser205Gly) n.719A>G | |
| 14 | g.23431787T>G | CA389052427 | MYH7 | c.613A>C (p.Ser205Arg) n.719A>C | |
| 14 | g.23431788G>A | CA485767387 | MYH7 | c.612C>T (p.Arg204=) n.718C>T | |
| 14 | g.23431788G>C | CA485767388 | MYH7 | c.612C>G (p.Arg204=) n.718C>G | |
| 14 | g.23431788G>T | CA485767389 | MYH7 | c.612C>A (p.Arg204=) n.718C>A | |
| 14 | g.23431789C>A | CA016552 | MYH7 | c.611G>T (p.Arg204Leu) n.717G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.23431789C= | CA2123452642 | MYH7 | c.611G= (p.Arg204=) n.717G= | |
| 14 | g.23431789C>G | CA389052428 | MYH7 | c.611G>C (p.Arg204Pro) n.717G>C | |
| 14 | g.23431789C>T | CA016546 | MYH7 | c.611G>A (p.Arg204His) n.717G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.23431790G>A | CA016540 | MYH7 | c.610C>T (p.Arg204Cys) n.716C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431790G>C | CA389052429 | MYH7 | c.610C>G (p.Arg204Gly) n.716C>G | |
| 14 | g.23431790G= | CA2123452653 | MYH7 | c.610C= (p.Arg204=) n.716C= | |
| 14 | g.23431790G>T | CA016534 | MYH7 | c.610C>A (p.Arg204Ser) n.716C>A | ClinVar dbSNP |
| 14 | g.23431791del | CA2624251718 | MYH7 | c.610del (p.Arg204AlafsTer?) n.716del | gnomAD v4 |
| 14 | g.23431791G>A | CA257826045 | MYH7 | c.609C>T (p.Asp203=) n.715C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431791G>C | CA389052430 | MYH7 | c.609C>G (p.Asp203Glu) n.715C>G | |
| 14 | g.23431791G= | CA2123452662 | MYH7 | c.609C= (p.Asp203=) n.715C= | |
| 14 | g.23431791G>T | CA389052431 | MYH7 | c.609C>A (p.Asp203Glu) n.715C>A | |
| 14 | g.23431792T>A | CA389052432 | MYH7 | c.608A>T (p.Asp203Val) n.714A>T | |
| 14 | g.23431792T>C | CA389052433 | MYH7 | c.608A>G (p.Asp203Gly) n.714A>G | |
| 14 | g.23431792T>G | CA389052434 | MYH7 | c.608A>C (p.Asp203Ala) n.714A>C | |
| 14 | g.23431793C>A | CA389052435 | MYH7 | c.607G>T (p.Asp203Tyr) n.713G>T | |
| 14 | g.23431793C>G | CA389052436 | MYH7 | c.607G>C (p.Asp203His) n.713G>C | |
| 14 | g.23431793C>T | CA389052437 | MYH7 | c.607G>A (p.Asp203Asn) n.713G>A | |
| 14 | g.23431794_23431796del | CA2695219148 | MYH7 | c.605_607del (p.Gly202del) n.711_713del | |
| 14 | g.23431794C>A | CA257826049 | MYH7 | c.606G>T (p.Gly202=) n.712G>T | dbSNP |
| 14 | g.23431794C= | CA2123452671 | MYH7 | c.606G= (p.Gly202=) n.712G= | |
| 14 | g.23431794C>G | CA485767390 | MYH7 | c.606G>C (p.Gly202=) n.712G>C | |
| 14 | g.23431794C>T | CA485767391 | MYH7 | c.606G>A (p.Gly202=) n.712G>A | gnomAD v4 |
| 14 | g.23431795C>A | CA389052438 | MYH7 | c.605G>T (p.Gly202Val) n.711G>T | |
| 14 | g.23431795C>G | CA389052439 | MYH7 | c.605G>C (p.Gly202Ala) n.711G>C | |
| 14 | g.23431795C>T | CA389052440 | MYH7 | c.605G>A (p.Gly202Glu) n.711G>A | |
| 14 | g.23431796C>A | CA389052442 | MYH7 | c.604G>T (p.Gly202Trp) n.710G>T | |
| 14 | g.23431796C>G | CA389052443 | MYH7 | c.604G>C (p.Gly202Arg) n.710G>C | |
| 14 | g.23431796C>T | CA389052441 | MYH7 | c.604G>A (p.Gly202Arg) n.710G>A | COSMIC |
| 14 | g.23431797A>C | CA389052444 | MYH7 | c.603T>G (p.Ile201Met) n.709T>G | |
| 14 | g.23431797A>G | CA485767392 | MYH7 | c.603T>C (p.Ile201=) n.709T>C | |
| 14 | g.23431797A>T | CA485767393 | MYH7 | c.603T>A (p.Ile201=) n.709T>A | |
| 14 | g.23431798A= | CA2123452686 | MYH7 | c.602T= (p.Ile201=) n.708T= | |
| 14 | g.23431798A>C | CA389052445 | MYH7 | c.602T>G (p.Ile201Ser) n.708T>G | |
| 14 | g.23431798A>G | CA016526 | MYH7 | c.602T>C (p.Ile201Thr) n.708T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431798A>T | CA389052446 | MYH7 | c.602T>A (p.Ile201Asn) n.708T>A | dbSNP |
| 14 | g.23431799T>A | CA048494 | MYH7 | c.601A>T (p.Ile201Phe) n.707A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431799T>C | CA389052448 | MYH7 | c.601A>G (p.Ile201Val) n.707A>G | |
| 14 | g.23431799T>G | CA389052447 | MYH7 | c.601A>C (p.Ile201Leu) n.707A>C | |
| 14 | g.23431799T= | CA2123452693 | MYH7 | c.601A= (p.Ile201=) n.707A= | |
| 14 | g.23431800G>A | CA485767394 | MYH7 | c.600C>T (p.Ala200=) n.706C>T | gnomAD v4 |
| 14 | g.23431800G>C | CA485767396 | MYH7 | c.600C>G (p.Ala200=) n.706C>G | |
| 14 | g.23431800G>T | CA485767395 | MYH7 | c.600C>A (p.Ala200=) n.706C>A | |
| 14 | g.23431801G>A | CA389052449 | MYH7 | c.599C>T (p.Ala200Val) n.705C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431801G>C | CA389052450 | MYH7 | c.599C>G (p.Ala200Gly) n.705C>G | |
| 14 | g.23431801G= | CA2123452698 | MYH7 | c.599C= (p.Ala200=) n.705C= | |
| 14 | g.23431801G>T | CA389052451 | MYH7 | c.599C>A (p.Ala200Asp) n.705C>A | |
| 14 | g.23431802C>A | CA389052452 | MYH7 | c.598G>T (p.Ala200Ser) n.704G>T | |
| 14 | g.23431802C>G | CA389052453 | MYH7 | c.598G>C (p.Ala200Pro) n.704G>C | |
| 14 | g.23431802C>T | CA389052454 | MYH7 | c.598G>A (p.Ala200Thr) n.704G>A | |
| 14 | g.23431803T>A | CA485767398 | MYH7 | c.597A>T (p.Ala199=) n.703A>T | |
| 14 | g.23431803T>C | CA016520 | MYH7 | c.597A>G (p.Ala199=) n.703A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.23431803T>G | CA485767397 | MYH7 | c.597A>C (p.Ala199=) n.703A>C | |
| 14 | g.23431803T= | CA2123452706 | MYH7 | c.597A= (p.Ala199=) n.703A= | |
| 14 | g.23431804G>A | CA016513 | MYH7 | c.596C>T (p.Ala199Val) n.702C>T | ClinVar dbSNP COSMIC |
| 14 | g.23431804G>C | CA389052456 | MYH7 | c.596C>G (p.Ala199Gly) n.702C>G | |
| 14 | g.23431804G= | CA2123452712 | MYH7 | c.596C= (p.Ala199=) n.702C= | |
| 14 | g.23431804G>T | CA389052455 | MYH7 | c.596C>A (p.Ala199Glu) n.702C>A | |
| 14 | g.23431805C>A | CA389052457 | MYH7 | c.595G>T (p.Ala199Ser) n.701G>T | |
| 14 | g.23431805C= | CA2123452715 | MYH7 | c.595G= (p.Ala199=) n.701G= | |
| 14 | g.23431805C>G | CA389052458 | MYH7 | c.595G>C (p.Ala199Pro) n.701G>C | |
| 14 | g.23431805C>T | CA016506 | MYH7 | c.595G>A (p.Ala199Thr) n.701G>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431806A= | CA2123452719 | MYH7 | c.594T= (p.Ile198=) n.700T= | |
| 14 | g.23431806A>C | CA389052459 | MYH7 | c.594T>G (p.Ile198Met) n.700T>G | |
| 14 | g.23431806A>G | CA048477 | MYH7 | c.594T>C (p.Ile198=) n.700T>C | dbSNP ExAC gnomAD v2 |
| 14 | g.23431806A>T | CA485767399 | MYH7 | c.594T>A (p.Ile198=) n.700T>A | |
| 14 | g.23431807A>C | CA389052460 | MYH7 | c.593T>G (p.Ile198Ser) n.699T>G | |
| 14 | g.23431807A>G | CA389052461 | MYH7 | c.593T>C (p.Ile198Thr) n.699T>C | |
| 14 | g.23431807A>T | CA389052462 | MYH7 | c.593T>A (p.Ile198Asn) n.699T>A | |
| 14 | g.23431808T>A | CA389052465 | MYH7 | c.592A>T (p.Ile198Phe) n.698A>T | |
| 14 | g.23431808T>C | CA389052464 | MYH7 | c.592A>G (p.Ile198Val) n.698A>G | |
| 14 | g.23431808T>G | CA389052463 | MYH7 | c.592A>C (p.Ile198Leu) n.698A>C | |
| 14 | g.23431809A>C | CA485767400 | MYH7 | c.591T>G (p.Val197=) n.697T>G | |
| 14 | g.23431809A>G | CA485767401 | MYH7 | c.591T>C (p.Val197=) n.697T>C | |
| 14 | g.23431809A>T | CA485767402 | MYH7 | c.591T>A (p.Val197=) n.697T>A | |
| 14 | g.23431810A>C | CA389052466 | MYH7 | c.590T>G (p.Val197Gly) n.696T>G | |
| 14 | g.23431810A>G | CA389052467 | MYH7 | c.590T>C (p.Val197Ala) n.696T>C | |
| 14 | g.23431810A>T | CA389052468 | MYH7 | c.590T>A (p.Val197Asp) n.696T>A | |
| 14 | g.23431811C>A | CA389052469 | MYH7 | c.589G>T (p.Val197Phe) n.695G>T | |
| 14 | g.23431811C= | CA2123452726 | MYH7 | c.589G= (p.Val197=) n.695G= | |
| 14 | g.23431811C>G | CA389052470 | MYH7 | c.589G>C (p.Val197Leu) n.695G>C | |
| 14 | g.23431811C>T | CA048464 | MYH7 | c.589G>A (p.Val197Ile) n.695G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.23431812A>C | CA485767403 | MYH7 | c.588T>G (p.Ala196=) n.694T>G | |
| 14 | g.23431812A>G | CA485767404 | MYH7 | c.588T>C (p.Ala196=) n.694T>C | |
| 14 | g.23431812A>T | CA485767405 | MYH7 | c.588T>A (p.Ala196=) n.694T>A | |
| 14 | g.23431813G>A | CA389052471 | MYH7 | c.587C>T (p.Ala196Val) n.693C>T | |
| 14 | g.23431813G>C | CA389052473 | MYH7 | c.587C>G (p.Ala196Gly) n.693C>G | ClinVar |
| 14 | g.23431813G>T | CA389052472 | MYH7 | c.587C>A (p.Ala196Asp) n.693C>A | |
| 14 | g.23431814C>A | CA389052474 | MYH7 | c.586G>T (p.Ala196Ser) n.692G>T | |
| 14 | g.23431814C= | CA2123452728 | MYH7 | c.586G= (p.Ala196=) n.692G= | |
| 14 | g.23431814C>G | CA389052475 | MYH7 | c.586G>C (p.Ala196Pro) n.692G>C | |
| 14 | g.23431814C>T | CA389052476 | MYH7 | c.586G>A (p.Ala196Thr) n.692G>A | dbSNP |
| 14 | g.23431815A>C | CA389052477 | MYH7 | c.585T>G (p.Phe195Leu) n.691T>G | |
| 14 | g.23431815A>G | CA485767406 | MYH7 | c.585T>C (p.Phe195=) n.691T>C | |
| 14 | g.23431815A>T | CA389052478 | MYH7 | c.585T>A (p.Phe195Leu) n.691T>A | |
| 14 | g.23431816A>C | CA389052479 | MYH7 | c.584T>G (p.Phe195Cys) n.690T>G | |
| 14 | g.23431816A>G | CA389052480 | MYH7 | c.584T>C (p.Phe195Ser) n.690T>C | |
| 14 | g.23431816A>T | CA389052481 | MYH7 | c.584T>A (p.Phe195Tyr) n.690T>A | |
| 14 | g.23431817A>C | CA389052482 | MYH7 | c.583T>G (p.Phe195Val) n.689T>G | |
| 14 | g.23431817A>G | CA389052483 | MYH7 | c.583T>C (p.Phe195Leu) n.689T>C | |
| 14 | g.23431817A>T | CA389052484 | MYH7 | c.583T>A (p.Phe195Ile) n.689T>A | |
| 14 | g.23431818G>A | CA485767407 | MYH7 | c.582C>T (p.Tyr194=) n.688C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.23431818G>C | CA389052485 | MYH7 | c.582C>G (p.Tyr194Ter) n.688C>G | ClinVar |
| 14 | g.23431818G= | CA2123452732 | MYH7 | c.582C= (p.Tyr194=) n.688C= | |
| 14 | g.23431818G>T | CA389052486 | MYH7 | c.582C>A (p.Tyr194Ter) n.688C>A | |
| 14 | g.23431819T>A | CA389052487 | MYH7 | c.581A>T (p.Tyr194Phe) n.687A>T | |
| 14 | g.23431819T>C | CA389052488 | MYH7 | c.581A>G (p.Tyr194Cys) n.687A>G | ClinVar |
| 14 | g.23431819T>G | CA389052489 | MYH7 | c.581A>C (p.Tyr194Ser) n.687A>C | |
| 14 | g.23431820A>C | CA389052490 | MYH7 | c.580T>G (p.Tyr194Asp) n.686T>G | |
| 14 | g.23431820A>G | CA389052491 | MYH7 | c.580T>C (p.Tyr194His) n.686T>C | COSMIC |
| 14 | g.23431820A>T | CA389052492 | MYH7 | c.580T>A (p.Tyr194Asn) n.686T>A | |
| 14 | g.23431821C>A | CA389052493 | MYH7 | c.579G>T (p.Gln193His) n.685G>T | |
| 14 | g.23431821C>G | CA389052494 | MYH7 | c.579G>C (p.Gln193His) n.685G>C | |
| 14 | g.23431821C>T | CA485767408 | MYH7 | c.579G>A (p.Gln193=) n.685G>A | |
| 14 | g.23431822T>A | CA389052495 | MYH7 | c.578A>T (p.Gln193Leu) n.684A>T | ClinVar dbSNP |
| 14 | g.23431822T>C | CA389052497 | MYH7 | c.578A>G (p.Gln193Arg) n.684A>G | ClinVar dbSNP |
| 14 | g.23431822T>G | CA389052496 | MYH7 | c.578A>C (p.Gln193Pro) n.684A>C | |
| 14 | g.23431822T= | CA2123452743 | MYH7 | c.578A= (p.Gln193=) n.684A= | |
| 14 | g.23431823G>A | CA389052498 | MYH7 | c.577C>T (p.Gln193Ter) n.683C>T | |
| 14 | g.23431823G>C | CA389052499 | MYH7 | c.577C>G (p.Gln193Glu) n.683C>G | |
| 14 | g.23431823G>T | CA389052500 | MYH7 | c.577C>A (p.Gln193Lys) n.683C>A | |
| 14 | g.23431824G>A | CA485767409 | MYH7 | c.576C>T (p.Ile192=) n.682C>T | |
| 14 | g.23431824G>C | CA389052501 | MYH7 | c.576C>G (p.Ile192Met) n.682C>G | |
| 14 | g.23431824G>T | CA485767410 | MYH7 | c.576C>A (p.Ile192=) n.682C>A | |
| 14 | g.23431824_23431825delinsGA | CA2123452749 | MYH7 | c.575_576delinsTC (p.Ile192=) n.681_682delinsTC | |
| 14 | g.23431825del | CA613317794 | MYH7 | c.575del (p.Ile192ThrfsTer?) n.681del | dbSNP gnomAD v2 |
| 14 | g.23431825A>C | CA389052502 | MYH7 | c.575T>G (p.Ile192Ser) n.681T>G | |
| 14 | g.23431825A>G | CA389052504 | MYH7 | c.575T>C (p.Ile192Thr) n.681T>C | |
| 14 | g.23431825A>T | CA389052503 | MYH7 | c.575T>A (p.Ile192Asn) n.681T>A | |
| 14 | g.23431826T>A | CA389052505 | MYH7 | c.574A>T (p.Ile192Phe) n.680A>T | |
| 14 | g.23431826T>C | CA16614503 | MYH7 | c.574A>G (p.Ile192Val) n.680A>G | ClinVar dbSNP |
| 14 | g.23431826T>G | CA389052506 | MYH7 | c.574A>C (p.Ile192Leu) n.680A>C | |
| 14 | g.23431826T= | CA2123452757 | MYH7 | c.574A= (p.Ile192=) n.680A= | |
| 14 | g.23431827G>A | CA485767411 | MYH7 | c.573C>T (p.Val191=) n.679C>T | dbSNP |
| 14 | g.23431827G>C | CA485767412 | MYH7 | c.573C>G (p.Val191=) n.679C>G | |
| 14 | g.23431827G= | CA2123452760 | MYH7 | c.573C= (p.Val191=) n.679C= | |
| 14 | g.23431827G>T | CA485767413 | MYH7 | c.573C>A (p.Val191=) n.679C>A | |
| 14 | g.23431828A= | CA2123452764 | MYH7 | c.572T= (p.Val191=) n.678T= | |
| 14 | g.23431828A>C | CA389052507 | MYH7 | c.572T>G (p.Val191Gly) n.678T>G | |
| 14 | g.23431828A>G | CA389052508 | MYH7 | c.572T>C (p.Val191Ala) n.678T>C | |
| 14 | g.23431828A>T | CA10577510 | MYH7 | c.572T>A (p.Val191Asp) n.678T>A | ClinVar dbSNP |
| 14 | g.23431829C>A | CA389052509 | MYH7 | c.571G>T (p.Val191Phe) n.677G>T | |
| 14 | g.23431829C>G | CA389052510 | MYH7 | c.571G>C (p.Val191Leu) n.677G>C | |
| 14 | g.23431829C>T | CA389052511 | MYH7 | c.571G>A (p.Val191Ile) n.677G>A | ClinVar dbSNP |
| 14 | g.23431830C>A | CA389052512 | MYH7 | c.570G>T (p.Arg190Ser) n.676G>T | |
| 14 | g.23431830C= | CA2123452767 | MYH7 | c.570G= (p.Arg190=) n.676G= | |
| 14 | g.23431830C>G | CA389052513 | MYH7 | c.570G>C (p.Arg190Ser) n.676G>C | |
| 14 | g.23431830C>T | CA485767414 | MYH7 | c.570G>A (p.Arg190=) n.676G>A | dbSNP |
| 14 | g.23431831C>A | CA389052516 | MYH7 | c.569G>T (p.Arg190Met) n.675G>T | |
| 14 | g.23431831C= | CA2123452771 | MYH7 | c.569G= (p.Arg190=) n.675G= | |
| 14 | g.23431831C>G | CA389052514 | MYH7 | c.569G>C (p.Arg190Thr) n.675G>C | dbSNP |
| 14 | g.23431831C>T | CA389052515 | MYH7 | c.569G>A (p.Arg190Lys) n.675G>A | |
| 14 | g.23431831_23431832delinsCT | CA2123452773 | MYH7 | c.568_569delinsAG (p.Arg190=) n.674_675delinsAG | |
| 14 | g.23431832del | CA919376112 | MYH7 | c.568del (p.Arg190GlyfsTer?) n.674del | dbSNP |
| 14 | g.23431832T>A | CA389052517 | MYH7 | c.568A>T (p.Arg190Trp) n.674A>T | |
| 14 | g.23431832T>C | CA389052518 | MYH7 | c.568A>G (p.Arg190Gly) n.674A>G | dbSNP |
| 14 | g.23431832T>G | CA485767415 | MYH7 | c.568A>C (p.Arg190=) n.674A>C | |
| 14 | g.23431832T= | CA2123452776 | MYH7 | c.568A= (p.Arg190=) n.674A= | |
| 14 | g.23431833C>A | CA389052519 | MYH7 | c.567G>T (p.Lys189Asn) n.673G>T | |
| 14 | g.23431833C>G | CA389052520 | MYH7 | c.567G>C (p.Lys189Asn) n.673G>C | |
| 14 | g.23431833C>T | CA485767416 | MYH7 | c.567G>A (p.Lys189=) n.673G>A | |
| 14 | g.23431833_23431834delinsCT | CA2123452779 | MYH7 | c.566_567delinsAG (p.Lys189=) n.672_673delinsAG | |
| 14 | g.23431834T>A | CA389052521 | MYH7 | c.566A>T (p.Lys189Met) n.672A>T | |
| 14 | g.23431834T>C | CA389052522 | MYH7 | c.566A>G (p.Lys189Arg) n.672A>G | ClinVar dbSNP |
| 14 | g.23431834T>G | CA389052523 | MYH7 | c.566A>C (p.Lys189Thr) n.672A>C | |
| 14 | g.23431835dup | CA2123452784 | MYH7 | c.566dup (p.Arg190GlufsTer?) n.672dup | dbSNP |
| 14 | g.23431835del | CA704269521 | MYH7 | c.566del (p.Lys189ArgfsTer?) n.672del | dbSNP gnomAD v4 |
| 14 | g.23431835T>A | CA389052539 | MYH7 | c.565A>T (p.Lys189Ter) n.671A>T | |
| 14 | g.23431835T>C | CA389052540 | MYH7 | c.565A>G (p.Lys189Glu) n.671A>G | COSMIC |
| 14 | g.23431835T>G | CA047931 | MYH7 | c.565A>C (p.Lys189Gln) n.671A>C | dbSNP ExAC |
| 14 | g.23431835T= | CA2123452788 | MYH7 | c.565A= (p.Lys189=) n.671A= |