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 |
|---|---|---|---|---|---|
| 1 | g.229431900_229431991delinsTACCTGGGGACCGCGGCGGGGAGCGTGAGCAGAAGCTCGGGGCGCCGGGGGCCGGCGGGGCCTGGGGGCCGGGGCGAGGGCGAGCGGGGCTC | CA1226125534 | ACTA1 | c.808+3_811delinsGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCGAGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTA c.673+3_676delinsGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCGAGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTA c.480-129_480-38delinsGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCGAGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTA (n.480-129_480-38delinsGAGCCCCGCTCGCCCTCGCCCCGGCCCCCAGGCCCCGCCGGCCCCCGGCGCCCCGAGCTTCTGCTCACGCTCCCCGCCGCGGTCCCCAGGTA) | |
| 1 | g.229431904_229431994del | CA529915234 | ACTA1 | c.808+3_810del c.673+3_675del c.480-129_480-39del (n.480-129_480-39del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431989C>A | CA2650926639 | ACTA1 | c.808+5G>T (n.808+5G>T) c.673+5G>T (n.673+5G>T) c.480-127G>T (n.480-127G>T) | gnomAD v4 |
| 1 | g.229431989C= | CA1226125609 | ACTA1 | c.808+5G= (n.808+5G=) c.673+5G= (n.673+5G=) c.480-127G= (n.480-127G=) | |
| 1 | g.229431989C>T | CA529915255 | ACTA1 | c.808+5G>A (n.808+5G>A) c.673+5G>A (n.673+5G>A) c.480-127G>A (n.480-127G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229431991C= | CA1145913200 | ACTA1 | c.808+3G= (n.808+3G=) c.673+3G= (n.673+3G=) c.480-129G= (n.480-129G=) | |
| 1 | g.229431991C>T | CA1442802 | ACTA1 | c.808+3G>A (n.808+3G>A) c.673+3G>A (n.673+3G>A) c.480-129G>A (n.480-129G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431992A>C | CA345146377 | ACTA1 | c.808+2T>G (n.808+2T>G) c.673+2T>G (n.673+2T>G) c.480-130T>G (n.480-130T>G) | |
| 1 | g.229431992A>G | CA345146376 | ACTA1 | c.808+2T>C (n.808+2T>C) c.673+2T>C (n.673+2T>C) c.480-130T>C (n.480-130T>C) | |
| 1 | g.229431992A>T | CA345146375 | ACTA1 | c.808+2T>A (n.808+2T>A) c.673+2T>A (n.673+2T>A) c.480-130T>A (n.480-130T>A) | |
| 1 | g.229431993C>A | CA345146378 | ACTA1 | c.808+1G>T (n.808+1G>T) c.673+1G>T (n.673+1G>T) c.480-131G>T (n.480-131G>T) | |
| 1 | g.229431993C>G | CA345146379 | ACTA1 | c.808+1G>C (n.808+1G>C) c.673+1G>C (n.673+1G>C) c.480-131G>C (n.480-131G>C) | |
| 1 | g.229431993C>T | CA345146380 | ACTA1 | c.808+1G>A (n.808+1G>A) c.673+1G>A (n.673+1G>A) c.480-131G>A (n.480-131G>A) | |
| 1 | g.229431994dup | CA2650926640 | ACTA1 | c.808+1dup c.673+1dup c.480-131dup (n.480-131dup) | gnomAD v4 |
| 1 | g.229431994C>A | CA258140 | ACTA1 | c.808G>T (p.Gly270Cys) c.673G>T (p.Gly225Cys) c.480-132G>T (n.480-132G>T) | ClinVar dbSNP |
| 1 | g.229431994C= | CA1141581374 | ACTA1 | c.808G= (p.Gly270=) c.673G= (p.Gly225=) c.480-132G= (n.480-132G=) | |
| 1 | g.229431994C>G | CA10576392 | ACTA1 | c.808G>C (p.Gly270Arg) c.673G>C (p.Gly225Arg) c.480-132G>C (n.480-132G>C) | ClinVar dbSNP |
| 1 | g.229431994C>T | CA345146383 | ACTA1 | c.808G>A (p.Gly270Ser) c.673G>A (p.Gly225Ser) c.480-132G>A (n.480-132G>A) | ClinVar gnomAD v4 COSMIC |
| 1 | g.229431994_229431995delinsTT | CA2586968415 | ACTA1 | c.807_808delinsAA (p.Gly270Ser) c.672_673delinsAA (p.Gly225Ser) c.480-133_480-132delinsAA (n.480-133_480-132delinsAA) | |
| 1 | g.229431995G>A | CA423754931 | ACTA1 | c.807C>T (p.Ile269=) c.672C>T (p.Ile224=) c.480-133C>T (n.480-133C>T) | gnomAD v4 |
| 1 | g.229431995G>C | CA345146385 | ACTA1 | c.807C>G (p.Ile269Met) c.672C>G (p.Ile224Met) c.480-133C>G (n.480-133C>G) | |
| 1 | g.229431995G>T | CA423754932 | ACTA1 | c.807C>A (p.Ile269=) c.672C>A (p.Ile224=) c.480-133C>A (n.480-133C>A) | COSMIC |
| 1 | g.229431996A>C | CA345146388 | ACTA1 | c.806T>G (p.Ile269Ser) c.671T>G (p.Ile224Ser) c.480-134T>G (n.480-134T>G) | |
| 1 | g.229431996A>G | CA345146391 | ACTA1 | c.806T>C (p.Ile269Thr) c.671T>C (p.Ile224Thr) c.480-134T>C (n.480-134T>C) | |
| 1 | g.229431996A>T | CA345146393 | ACTA1 | c.806T>A (p.Ile269Asn) c.671T>A (p.Ile224Asn) c.480-134T>A (n.480-134T>A) | |
| 1 | g.229431997T>A | CA345146394 | ACTA1 | c.805A>T (p.Ile269Phe) c.670A>T (p.Ile224Phe) c.480-135A>T (n.480-135A>T) | |
| 1 | g.229431997T>C | CA1442803 | ACTA1 | c.805A>G (p.Ile269Val) c.670A>G (p.Ile224Val) c.480-135A>G (n.480-135A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229431997T>G | CA345146396 | ACTA1 | c.805A>C (p.Ile269Leu) c.670A>C (p.Ile224Leu) c.480-135A>C (n.480-135A>C) | |
| 1 | g.229431997T= | CA1226125610 | ACTA1 | c.805A= (p.Ile269=) c.670A= (p.Ile224=) c.480-135A= (n.480-135A=) | |
| 1 | g.229431998G>A | CA423754934 | ACTA1 | c.804C>T (p.Phe268=) c.669C>T (p.Phe223=) c.480-136C>T (n.480-136C>T) | dbSNP gnomAD v4 |
| 1 | g.229431998G>C | CA345146398 | ACTA1 | c.804C>G (p.Phe268Leu) c.669C>G (p.Phe223Leu) c.480-136C>G (n.480-136C>G) | |
| 1 | g.229431998G= | CA1226125611 | ACTA1 | c.804C= (p.Phe268=) c.669C= (p.Phe223=) c.480-136C= (n.480-136C=) | |
| 1 | g.229431998G>T | CA345146397 | ACTA1 | c.804C>A (p.Phe268Leu) c.669C>A (p.Phe223Leu) c.480-136C>A (n.480-136C>A) | |
| 1 | g.229431999A= | CA1226125612 | ACTA1 | c.803T= (p.Phe268=) c.668T= (p.Phe223=) c.480-137T= (n.480-137T=) | |
| 1 | g.229431999A>C | CA345146401 | ACTA1 | c.803T>G (p.Phe268Cys) c.668T>G (p.Phe223Cys) c.480-137T>G (n.480-137T>G) | |
| 1 | g.229431999A>G | CA345146402 | ACTA1 | c.803T>C (p.Phe268Ser) c.668T>C (p.Phe223Ser) c.480-137T>C (n.480-137T>C) | ClinVar dbSNP |
| 1 | g.229431999A>T | CA345146407 | ACTA1 | c.803T>A (p.Phe268Tyr) c.668T>A (p.Phe223Tyr) c.480-137T>A (n.480-137T>A) | |
| 1 | g.229432000A>C | CA345146409 | ACTA1 | c.802T>G (p.Phe268Val) c.667T>G (p.Phe223Val) c.480-138T>G (n.480-138T>G) | |
| 1 | g.229432000A>G | CA345146411 | ACTA1 | c.802T>C (p.Phe268Leu) c.667T>C (p.Phe223Leu) c.480-138T>C (n.480-138T>C) | |
| 1 | g.229432000A>T | CA345146416 | ACTA1 | c.802T>A (p.Phe268Ile) c.667T>A (p.Phe223Ile) c.480-138T>A (n.480-138T>A) | |
| 1 | g.229432001G>A | CA423754935 | ACTA1 | c.801C>T (p.Ser267=) c.666C>T (p.Ser222=) c.480-139C>T (n.480-139C>T) | |
| 1 | g.229432001G>C | CA423754936 | ACTA1 | c.801C>G (p.Ser267=) c.666C>G (p.Ser222=) c.480-139C>G (n.480-139C>G) | |
| 1 | g.229432001G>T | CA423754937 | ACTA1 | c.801C>A (p.Ser267=) c.666C>A (p.Ser222=) c.480-139C>A (n.480-139C>A) | dbSNP |
| 1 | g.229432002G>A | CA345146426 | ACTA1 | c.800C>T (p.Ser267Phe) c.665C>T (p.Ser222Phe) c.480-140C>T (n.480-140C>T) | |
| 1 | g.229432002G>C | CA345146420 | ACTA1 | c.800C>G (p.Ser267Cys) c.665C>G (p.Ser222Cys) c.480-140C>G (n.480-140C>G) | ClinVar dbSNP |
| 1 | g.229432002G>T | CA345146418 | ACTA1 | c.800C>A (p.Ser267Tyr) c.665C>A (p.Ser222Tyr) c.480-140C>A (n.480-140C>A) | |
| 1 | g.229432003A>C | CA345146430 | ACTA1 | c.799T>G (p.Ser267Ala) c.664T>G (p.Ser222Ala) c.480-141T>G (n.480-141T>G) | |
| 1 | g.229432003A>G | CA345146433 | ACTA1 | c.799T>C (p.Ser267Pro) c.664T>C (p.Ser222Pro) c.480-141T>C (n.480-141T>C) | |
| 1 | g.229432003A>T | CA345146435 | ACTA1 | c.799T>A (p.Ser267Thr) c.664T>A (p.Ser222Thr) c.480-141T>A (n.480-141T>A) | |
| 1 | g.229432004G>A | CA423754938 | ACTA1 | c.798C>T (p.Pro266=) c.663C>T (p.Pro221=) c.480-142C>T (n.480-142C>T) | dbSNP |
| 1 | g.229432004G>C | CA423754939 | ACTA1 | c.798C>G (p.Pro266=) c.663C>G (p.Pro221=) c.480-142C>G (n.480-142C>G) | |
| 1 | g.229432004G= | CA1226125613 | ACTA1 | c.798C= (p.Pro266=) c.663C= (p.Pro221=) c.480-142C= (n.480-142C=) | |
| 1 | g.229432004G>T | CA423754940 | ACTA1 | c.798C>A (p.Pro266=) c.663C>A (p.Pro221=) c.480-142C>A (n.480-142C>A) | dbSNP |
| 1 | g.229432005G>A | CA345146438 | ACTA1 | c.797C>T (p.Pro266Leu) c.662C>T (p.Pro221Leu) c.480-143C>T (n.480-143C>T) | ClinVar |
| 1 | g.229432005G>C | CA345146440 | ACTA1 | c.797C>G (p.Pro266Arg) c.662C>G (p.Pro221Arg) c.480-143C>G (n.480-143C>G) | |
| 1 | g.229432005G>T | CA345146443 | ACTA1 | c.797C>A (p.Pro266His) c.662C>A (p.Pro221His) c.480-143C>A (n.480-143C>A) | |
| 1 | g.229432006G>A | CA345146450 | ACTA1 | c.796C>T (p.Pro266Ser) c.661C>T (p.Pro221Ser) c.480-144C>T (n.480-144C>T) | ClinVar dbSNP |
| 1 | g.229432006G>C | CA345146445 | ACTA1 | c.796C>G (p.Pro266Ala) c.661C>G (p.Pro221Ala) c.480-144C>G (n.480-144C>G) | |
| 1 | g.229432006G= | CA1226125614 | ACTA1 | c.796C= (p.Pro266=) c.661C= (p.Pro221=) c.480-144C= (n.480-144C=) | |
| 1 | g.229432006G>T | CA345146448 | ACTA1 | c.796C>A (p.Pro266Thr) c.661C>A (p.Pro221Thr) c.480-144C>A (n.480-144C>A) | |
| 1 | g.229432007C>A | CA345146452 | ACTA1 | c.795G>T (p.Gln265His) c.660G>T (p.Gln220His) c.480-145G>T (n.480-145G>T) | |
| 1 | g.229432007C>G | CA345146453 | ACTA1 | c.795G>C (p.Gln265His) c.660G>C (p.Gln220His) c.480-145G>C (n.480-145G>C) | |
| 1 | g.229432007C>T | CA423754941 | ACTA1 | c.795G>A (p.Gln265=) c.660G>A (p.Gln220=) c.480-145G>A (n.480-145G>A) | |
| 1 | g.229432008T>A | CA345146454 | ACTA1 | c.794A>T (p.Gln265Leu) c.659A>T (p.Gln220Leu) c.480-146A>T (n.480-146A>T) | |
| 1 | g.229432008T>C | CA345146455 | ACTA1 | c.794A>G (p.Gln265Arg) c.659A>G (p.Gln220Arg) c.480-146A>G (n.480-146A>G) | ClinVar |
| 1 | g.229432008T>G | CA345146456 | ACTA1 | c.794A>C (p.Gln265Pro) c.659A>C (p.Gln220Pro) c.480-146A>C (n.480-146A>C) | |
| 1 | g.229432009G>A | CA345146459 | ACTA1 | c.793C>T (p.Gln265Ter) c.658C>T (p.Gln220Ter) c.480-147C>T (n.480-147C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432009G>C | CA345146460 | ACTA1 | c.793C>G (p.Gln265Glu) c.658C>G (p.Gln220Glu) c.480-147C>G (n.480-147C>G) | |
| 1 | g.229432009G= | CA1226125615 | ACTA1 | c.793C= (p.Gln265=) c.658C= (p.Gln220=) c.480-147C= (n.480-147C=) | |
| 1 | g.229432009G>T | CA345146461 | ACTA1 | c.793C>A (p.Gln265Lys) c.658C>A (p.Gln220Lys) c.480-147C>A (n.480-147C>A) | |
| 1 | g.229432010G>A | CA423754942 | ACTA1 | c.792C>T (p.Phe264=) c.657C>T (p.Phe219=) c.480-148C>T (n.480-148C>T) | gnomAD v4 |
| 1 | g.229432010G>C | CA345146462 | ACTA1 | c.792C>G (p.Phe264Leu) c.657C>G (p.Phe219Leu) c.480-148C>G (n.480-148C>G) | |
| 1 | g.229432010G>T | CA345146464 | ACTA1 | c.792C>A (p.Phe264Leu) c.657C>A (p.Phe219Leu) c.480-148C>A (n.480-148C>A) | |
| 1 | g.229432011A>C | CA345146467 | ACTA1 | c.791T>G (p.Phe264Cys) c.656T>G (p.Phe219Cys) c.480-149T>G (n.480-149T>G) | |
| 1 | g.229432011A>G | CA345146469 | ACTA1 | c.791T>C (p.Phe264Ser) c.656T>C (p.Phe219Ser) c.480-149T>C (n.480-149T>C) | |
| 1 | g.229432011A>T | CA345146471 | ACTA1 | c.791T>A (p.Phe264Tyr) c.656T>A (p.Phe219Tyr) c.480-149T>A (n.480-149T>A) | |
| 1 | g.229432012A>C | CA345146479 | ACTA1 | c.790T>G (p.Phe264Val) c.655T>G (p.Phe219Val) c.480-150T>G (n.480-150T>G) | |
| 1 | g.229432012A>G | CA345146474 | ACTA1 | c.790T>C (p.Phe264Leu) c.655T>C (p.Phe219Leu) c.480-150T>C (n.480-150T>C) | |
| 1 | g.229432012A>T | CA345146477 | ACTA1 | c.790T>A (p.Phe264Ile) c.655T>A (p.Phe219Ile) c.480-150T>A (n.480-150T>A) | |
| 1 | g.229432013G>A | CA423754944 | ACTA1 | c.789C>T (p.Leu263=) c.654C>T (p.Leu218=) c.480-151C>T (n.480-151C>T) | |
| 1 | g.229432013G>C | CA423754947 | ACTA1 | c.789C>G (p.Leu263=) c.654C>G (p.Leu218=) c.480-151C>G (n.480-151C>G) | |
| 1 | g.229432013G>T | CA423754946 | ACTA1 | c.789C>A (p.Leu263=) c.654C>A (p.Leu218=) c.480-151C>A (n.480-151C>A) | gnomAD v4 |
| 1 | g.229432014A>C | CA345146482 | ACTA1 | c.788T>G (p.Leu263Arg) c.653T>G (p.Leu218Arg) c.480-152T>G (n.480-152T>G) | |
| 1 | g.229432014A>G | CA345146485 | ACTA1 | c.788T>C (p.Leu263Pro) c.653T>C (p.Leu218Pro) c.480-152T>C (n.480-152T>C) | |
| 1 | g.229432014A>T | CA345146487 | ACTA1 | c.788T>A (p.Leu263His) c.653T>A (p.Leu218His) c.480-152T>A (n.480-152T>A) | |
| 1 | g.229432015G>A | CA345146488 | ACTA1 | c.787C>T (p.Leu263Phe) c.652C>T (p.Leu218Phe) c.480-153C>T (n.480-153C>T) | |
| 1 | g.229432015G>C | CA345146490 | ACTA1 | c.787C>G (p.Leu263Val) c.652C>G (p.Leu218Val) c.480-153C>G (n.480-153C>G) | |
| 1 | g.229432015G>T | CA345146492 | ACTA1 | c.787C>A (p.Leu263Ile) c.652C>A (p.Leu218Ile) c.480-153C>A (n.480-153C>A) | |
| 1 | g.229432016C>A | CA423754950 | ACTA1 | c.786G>T (p.Thr262=) c.651G>T (p.Thr217=) c.480-154G>T (n.480-154G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432016C= | CA1141779675 | ACTA1 | c.786G= (p.Thr262=) c.651G= (p.Thr217=) c.480-154G= (n.480-154G=) | |
| 1 | g.229432016C>G | CA1442804 | ACTA1 | c.786G>C (p.Thr262=) c.651G>C (p.Thr217=) c.480-154G>C (n.480-154G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432016C>T | CA423754952 | ACTA1 | c.786G>A (p.Thr262=) c.651G>A (p.Thr217=) c.480-154G>A (n.480-154G>A) | gnomAD v4 |
| 1 | g.229432017G>A | CA345146498 | ACTA1 | c.785C>T (p.Thr262Met) c.650C>T (p.Thr217Met) c.480-155C>T (n.480-155C>T) | |
| 1 | g.229432017G>C | CA345146494 | ACTA1 | c.785C>G (p.Thr262Arg) c.650C>G (p.Thr217Arg) c.480-155C>G (n.480-155C>G) | |
| 1 | g.229432017G>T | CA345146497 | ACTA1 | c.785C>A (p.Thr262Lys) c.650C>A (p.Thr217Lys) c.480-155C>A (n.480-155C>A) | |
| 1 | g.229432018T>A | CA345146501 | ACTA1 | c.784A>T (p.Thr262Ser) c.649A>T (p.Thr217Ser) c.480-156A>T (n.480-156A>T) | |
| 1 | g.229432018T>C | CA345146503 | ACTA1 | c.784A>G (p.Thr262Ala) c.649A>G (p.Thr217Ala) c.480-156A>G (n.480-156A>G) | |
| 1 | g.229432018T>G | CA345146505 | ACTA1 | c.784A>C (p.Thr262Pro) c.649A>C (p.Thr217Pro) c.480-156A>C (n.480-156A>C) | |
| 1 | g.229432019C>A | CA345146508 | ACTA1 | c.783G>T (p.Glu261Asp) c.648G>T (p.Glu216Asp) c.480-157G>T (n.480-157G>T) | |
| 1 | g.229432019C= | CA1226125616 | ACTA1 | c.783G= (p.Glu261=) c.648G= (p.Glu216=) c.480-157G= (n.480-157G=) | |
| 1 | g.229432019C>G | CA345146510 | ACTA1 | c.783G>C (p.Glu261Asp) c.648G>C (p.Glu216Asp) c.480-157G>C (n.480-157G>C) | |
| 1 | g.229432019C>T | CA423754954 | ACTA1 | c.783G>A (p.Glu261=) c.648G>A (p.Glu216=) c.480-157G>A (n.480-157G>A) | dbSNP |
| 1 | g.229432020T>A | CA258136 | ACTA1 | c.782A>T (p.Glu261Val) c.647A>T (p.Glu216Val) c.480-158A>T (n.480-158A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432020T>C | CA345146516 | ACTA1 | c.782A>G (p.Glu261Gly) c.647A>G (p.Glu216Gly) c.480-158A>G (n.480-158A>G) | gnomAD v4 |
| 1 | g.229432020T>G | CA345146514 | ACTA1 | c.782A>C (p.Glu261Ala) c.647A>C (p.Glu216Ala) c.480-158A>C (n.480-158A>C) | |
| 1 | g.229432020T= | CA1141581375 | ACTA1 | c.782A= (p.Glu261=) c.647A= (p.Glu216=) c.480-158A= (n.480-158A=) | |
| 1 | g.229432021C>A | CA345146519 | ACTA1 | c.781G>T (p.Glu261Ter) c.646G>T (p.Glu216Ter) c.480-159G>T (n.480-159G>T) | |
| 1 | g.229432021C>G | CA345146521 | ACTA1 | c.781G>C (p.Glu261Gln) c.646G>C (p.Glu216Gln) c.480-159G>C (n.480-159G>C) | |
| 1 | g.229432021C>T | CA345146523 | ACTA1 | c.781G>A (p.Glu261Lys) c.646G>A (p.Glu216Lys) c.480-159G>A (n.480-159G>A) | |
| 1 | g.229432022C>A | CA423754956 | ACTA1 | c.780G>T (p.Pro260=) c.645G>T (p.Pro215=) c.480-160G>T (n.480-160G>T) | dbSNP |
| 1 | g.229432022C= | CA1226125617 | ACTA1 | c.780G= (p.Pro260=) c.645G= (p.Pro215=) c.480-160G= (n.480-160G=) | |
| 1 | g.229432022C>G | CA423754958 | ACTA1 | c.780G>C (p.Pro260=) c.645G>C (p.Pro215=) c.480-160G>C (n.480-160G>C) | |
| 1 | g.229432022C>T | CA423754959 | ACTA1 | c.780G>A (p.Pro260=) c.645G>A (p.Pro215=) c.480-160G>A (n.480-160G>A) | dbSNP gnomAD v4 |
| 1 | g.229432023G>A | CA345146525 | ACTA1 | c.779C>T (p.Pro260Leu) c.644C>T (p.Pro215Leu) c.480-161C>T (n.480-161C>T) | |
| 1 | g.229432023G>C | CA345146527 | ACTA1 | c.779C>G (p.Pro260Arg) c.644C>G (p.Pro215Arg) c.480-161C>G (n.480-161C>G) | |
| 1 | g.229432023G>T | CA345146528 | ACTA1 | c.779C>A (p.Pro260Gln) c.644C>A (p.Pro215Gln) c.480-161C>A (n.480-161C>A) | |
| 1 | g.229432024G>A | CA345146531 | ACTA1 | c.778C>T (p.Pro260Ser) c.643C>T (p.Pro215Ser) c.480-162C>T (n.480-162C>T) | |
| 1 | g.229432024G>C | CA345146533 | ACTA1 | c.778C>G (p.Pro260Ala) c.643C>G (p.Pro215Ala) c.480-162C>G (n.480-162C>G) | |
| 1 | g.229432024G>T | CA345146534 | ACTA1 | c.778C>A (p.Pro260Thr) c.643C>A (p.Pro215Thr) c.480-162C>A (n.480-162C>A) | |
| 1 | g.229432025G>A | CA423754964 | ACTA1 | c.777C>T (p.Cys259=) c.642C>T (p.Cys214=) c.480-163C>T (n.480-163C>T) | gnomAD v4 |
| 1 | g.229432025G>C | CA345146536 | ACTA1 | c.777C>G (p.Cys259Trp) c.642C>G (p.Cys214Trp) c.480-163C>G (n.480-163C>G) | |
| 1 | g.229432025G>T | CA345146539 | ACTA1 | c.777C>A (p.Cys259Ter) c.642C>A (p.Cys214Ter) c.480-163C>A (n.480-163C>A) | |
| 1 | g.229432026C>A | CA345146541 | ACTA1 | c.776G>T (p.Cys259Phe) c.641G>T (p.Cys214Phe) c.480-164G>T (n.480-164G>T) | gnomAD v4 |
| 1 | g.229432026C>G | CA345146545 | ACTA1 | c.776G>C (p.Cys259Ser) c.641G>C (p.Cys214Ser) c.480-164G>C (n.480-164G>C) | |
| 1 | g.229432026C>T | CA345146543 | ACTA1 | c.776G>A (p.Cys259Tyr) c.641G>A (p.Cys214Tyr) c.480-164G>A (n.480-164G>A) | |
| 1 | g.229432027A>C | CA345146546 | ACTA1 | c.775T>G (p.Cys259Gly) c.640T>G (p.Cys214Gly) c.480-165T>G (n.480-165T>G) | |
| 1 | g.229432027A>G | CA345146549 | ACTA1 | c.775T>C (p.Cys259Arg) c.640T>C (p.Cys214Arg) c.480-165T>C (n.480-165T>C) | |
| 1 | g.229432027A>T | CA345146547 | ACTA1 | c.775T>A (p.Cys259Ser) c.640T>A (p.Cys214Ser) c.480-165T>A (n.480-165T>A) | |
| 1 | g.229432028G>A | CA1442805 | ACTA1 | c.774C>T (p.Arg258=) c.639C>T (p.Arg213=) c.480-166C>T (n.480-166C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432028G>C | CA423754971 | ACTA1 | c.774C>G (p.Arg258=) c.639C>G (p.Arg213=) c.480-166C>G (n.480-166C>G) | |
| 1 | g.229432028G= | CA1226125618 | ACTA1 | c.774C= (p.Arg258=) c.639C= (p.Arg213=) c.480-166C= (n.480-166C=) | |
| 1 | g.229432028G>T | CA423754969 | ACTA1 | c.774C>A (p.Arg258=) c.639C>A (p.Arg213=) c.480-166C>A (n.480-166C>A) | |
| 1 | g.229432029C>A | CA345146558 | ACTA1 | c.773G>T (p.Arg258Leu) c.638G>T (p.Arg213Leu) c.480-167G>T (n.480-167G>T) | |
| 1 | g.229432029C= | CA1226125619 | ACTA1 | c.773G= (p.Arg258=) c.638G= (p.Arg213=) c.480-167G= (n.480-167G=) | |
| 1 | g.229432029C>G | CA345146560 | ACTA1 | c.773G>C (p.Arg258Pro) c.638G>C (p.Arg213Pro) c.480-167G>C (n.480-167G>C) | |
| 1 | g.229432029C>T | CA345146563 | ACTA1 | c.773G>A (p.Arg258His) c.638G>A (p.Arg213His) c.480-167G>A (n.480-167G>A) | ClinVar dbSNP |
| 1 | g.229432030G>A | CA345146565 | ACTA1 | c.772C>T (p.Arg258Cys) c.637C>T (p.Arg213Cys) c.480-168C>T (n.480-168C>T) | |
| 1 | g.229432030G>C | CA345146567 | ACTA1 | c.772C>G (p.Arg258Gly) c.637C>G (p.Arg213Gly) c.480-168C>G (n.480-168C>G) | ClinVar |
| 1 | g.229432030G>T | CA345146569 | ACTA1 | c.772C>A (p.Arg258Ser) c.637C>A (p.Arg213Ser) c.480-168C>A (n.480-168C>A) | |
| 1 | g.229432031G>A | CA423754975 | ACTA1 | c.771C>T (p.Phe257=) c.636C>T (p.Phe212=) c.480-169C>T (n.480-169C>T) | |
| 1 | g.229432031G>C | CA345146571 | ACTA1 | c.771C>G (p.Phe257Leu) c.636C>G (p.Phe212Leu) c.480-169C>G (n.480-169C>G) | |
| 1 | g.229432031G>T | CA345146573 | ACTA1 | c.771C>A (p.Phe257Leu) c.636C>A (p.Phe212Leu) c.480-169C>A (n.480-169C>A) | COSMIC |
| 1 | g.229432032A>C | CA345146578 | ACTA1 | c.770T>G (p.Phe257Cys) c.635T>G (p.Phe212Cys) c.480-170T>G (n.480-170T>G) | |
| 1 | g.229432032A>G | CA345146580 | ACTA1 | c.770T>C (p.Phe257Ser) c.635T>C (p.Phe212Ser) c.480-170T>C (n.480-170T>C) | |
| 1 | g.229432032A>T | CA345146582 | ACTA1 | c.770T>A (p.Phe257Tyr) c.635T>A (p.Phe212Tyr) c.480-170T>A (n.480-170T>A) | |
| 1 | g.229432033A>C | CA345146587 | ACTA1 | c.769T>G (p.Phe257Val) c.634T>G (p.Phe212Val) c.480-171T>G (n.480-171T>G) | |
| 1 | g.229432033A>G | CA345146583 | ACTA1 | c.769T>C (p.Phe257Leu) c.634T>C (p.Phe212Leu) c.480-171T>C (n.480-171T>C) | |
| 1 | g.229432033A>T | CA345146585 | ACTA1 | c.769T>A (p.Phe257Ile) c.634T>A (p.Phe212Ile) c.480-171T>A (n.480-171T>A) | |
| 1 | g.229432034G>A | CA423754984 | ACTA1 | c.768C>T (p.Arg256=) c.633C>T (p.Arg211=) c.480-172C>T (n.480-172C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432034G>C | CA423754983 | ACTA1 | c.768C>G (p.Arg256=) c.633C>G (p.Arg211=) c.480-172C>G (n.480-172C>G) | |
| 1 | g.229432034G= | CA1226125620 | ACTA1 | c.768C= (p.Arg256=) c.633C= (p.Arg211=) c.480-172C= (n.480-172C=) | |
| 1 | g.229432034G>T | CA423754981 | ACTA1 | c.768C>A (p.Arg256=) c.633C>A (p.Arg211=) c.480-172C>A (n.480-172C>A) | |
| 1 | g.229432035C>A | CA345146590 | ACTA1 | c.767G>T (p.Arg256Leu) c.632G>T (p.Arg211Leu) c.480-173G>T (n.480-173G>T) | |
| 1 | g.229432035C= | CA1226125621 | ACTA1 | c.767G= (p.Arg256=) c.632G= (p.Arg211=) c.480-173G= (n.480-173G=) | |
| 1 | g.229432035C>G | CA345146591 | ACTA1 | c.767G>C (p.Arg256Pro) c.632G>C (p.Arg211Pro) c.480-173G>C (n.480-173G>C) | |
| 1 | g.229432035C>T | CA345146592 | ACTA1 | c.767G>A (p.Arg256His) c.632G>A (p.Arg211His) c.480-173G>A (n.480-173G>A) | ClinVar dbSNP |
| 1 | g.229432036G>A | CA345146594 | ACTA1 | c.766C>T (p.Arg256Cys) c.631C>T (p.Arg211Cys) c.480-174C>T (n.480-174C>T) | ClinVar dbSNP COSMIC |
| 1 | g.229432036G>C | CA345146596 | ACTA1 | c.766C>G (p.Arg256Gly) c.631C>G (p.Arg211Gly) c.480-174C>G (n.480-174C>G) | ClinVar |
| 1 | g.229432036G= | CA1226125622 | ACTA1 | c.766C= (p.Arg256=) c.631C= (p.Arg211=) c.480-174C= (n.480-174C=) | |
| 1 | g.229432036G>T | CA345146598 | ACTA1 | c.766C>A (p.Arg256Ser) c.631C>A (p.Arg211Ser) c.480-174C>A (n.480-174C>A) | |
| 1 | g.229432037C>A | CA345146601 | ACTA1 | c.765G>T (p.Glu255Asp) c.630G>T (p.Glu210Asp) c.480-175G>T (n.480-175G>T) | |
| 1 | g.229432037C>G | CA345146603 | ACTA1 | c.765G>C (p.Glu255Asp) c.630G>C (p.Glu210Asp) c.480-175G>C (n.480-175G>C) | |
| 1 | g.229432037C>T | CA423754985 | ACTA1 | c.765G>A (p.Glu255=) c.630G>A (p.Glu210=) c.480-175G>A (n.480-175G>A) | gnomAD v4 |
| 1 | g.229432038T>A | CA345146605 | ACTA1 | c.764A>T (p.Glu255Val) c.629A>T (p.Glu210Val) c.480-176A>T (n.480-176A>T) | |
| 1 | g.229432038T>C | CA345146608 | ACTA1 | c.764A>G (p.Glu255Gly) c.629A>G (p.Glu210Gly) c.480-176A>G (n.480-176A>G) | |
| 1 | g.229432038T>G | CA345146610 | ACTA1 | c.764A>C (p.Glu255Ala) c.629A>C (p.Glu210Ala) c.480-176A>C (n.480-176A>C) | |
| 1 | g.229432039C>A | CA345146617 | ACTA1 | c.763G>T (p.Glu255Ter) c.628G>T (p.Glu210Ter) c.480-177G>T (n.480-177G>T) | dbSNP |
| 1 | g.229432039C= | CA1226125623 | ACTA1 | c.763G= (p.Glu255=) c.628G= (p.Glu210=) c.480-177G= (n.480-177G=) | |
| 1 | g.229432039C>G | CA345146616 | ACTA1 | c.763G>C (p.Glu255Gln) c.628G>C (p.Glu210Gln) c.480-177G>C (n.480-177G>C) | |
| 1 | g.229432039C>T | CA345146614 | ACTA1 | c.763G>A (p.Glu255Lys) c.628G>A (p.Glu210Lys) c.480-177G>A (n.480-177G>A) | |
| 1 | g.229432040G>A | CA423754989 | ACTA1 | c.762C>T (p.Asn254=) c.627C>T (p.Asn209=) c.480-178C>T (n.480-178C>T) | dbSNP gnomAD v4 COSMIC |
| 1 | g.229432040G>C | CA345146620 | ACTA1 | c.762C>G (p.Asn254Lys) c.627C>G (p.Asn209Lys) c.480-178C>G (n.480-178C>G) | ClinVar dbSNP |
| 1 | g.229432040G= | CA1226125624 | ACTA1 | c.762C= (p.Asn254=) c.627C= (p.Asn209=) c.480-178C= (n.480-178C=) | |
| 1 | g.229432040G>T | CA345146622 | ACTA1 | c.762C>A (p.Asn254Lys) c.627C>A (p.Asn209Lys) c.480-178C>A (n.480-178C>A) | COSMIC |
| 1 | g.229432041T>A | CA345146625 | ACTA1 | c.761A>T (p.Asn254Ile) c.626A>T (p.Asn209Ile) c.480-179A>T (n.480-179A>T) | |
| 1 | g.229432041T>C | CA345146628 | ACTA1 | c.761A>G (p.Asn254Ser) c.626A>G (p.Asn209Ser) c.480-179A>G (n.480-179A>G) | |
| 1 | g.229432041T>G | CA345146630 | ACTA1 | c.761A>C (p.Asn254Thr) c.626A>C (p.Asn209Thr) c.480-179A>C (n.480-179A>C) | |
| 1 | g.229432042T>A | CA345146633 | ACTA1 | c.760A>T (p.Asn254Tyr) c.625A>T (p.Asn209Tyr) c.480-180A>T (n.480-180A>T) | |
| 1 | g.229432042T>C | CA345146636 | ACTA1 | c.760A>G (p.Asn254Asp) c.625A>G (p.Asn209Asp) c.480-180A>G (n.480-180A>G) | |
| 1 | g.229432042T>G | CA345146638 | ACTA1 | c.760A>C (p.Asn254His) c.625A>C (p.Asn209His) c.480-180A>C (n.480-180A>C) | |
| 1 | g.229432043G>A | CA423754992 | ACTA1 | c.759C>T (p.Gly253=) c.624C>T (p.Gly208=) c.480-181C>T (n.480-181C>T) | |
| 1 | g.229432043G>C | CA423754994 | ACTA1 | c.759C>G (p.Gly253=) c.624C>G (p.Gly208=) c.480-181C>G (n.480-181C>G) | dbSNP |
| 1 | g.229432043G= | CA1226125625 | ACTA1 | c.759C= (p.Gly253=) c.624C= (p.Gly208=) c.480-181C= (n.480-181C=) | |
| 1 | g.229432043G>T | CA423754993 | ACTA1 | c.759C>A (p.Gly253=) c.624C>A (p.Gly208=) c.480-181C>A (n.480-181C>A) | |
| 1 | g.229432044C>A | CA345146641 | ACTA1 | c.758G>T (p.Gly253Val) c.623G>T (p.Gly208Val) c.480-182G>T (n.480-182G>T) | |
| 1 | g.229432044C>G | CA345146643 | ACTA1 | c.758G>C (p.Gly253Ala) c.623G>C (p.Gly208Ala) c.480-182G>C (n.480-182G>C) | |
| 1 | g.229432044C>T | CA345146645 | ACTA1 | c.758G>A (p.Gly253Asp) c.623G>A (p.Gly208Asp) c.480-182G>A (n.480-182G>A) | ClinVar |
| 1 | g.229432045C>A | CA345146649 | ACTA1 | c.757G>T (p.Gly253Cys) c.622G>T (p.Gly208Cys) c.480-183G>T (n.480-183G>T) | ClinVar dbSNP |
| 1 | g.229432045C>G | CA345146651 | ACTA1 | c.757G>C (p.Gly253Arg) c.622G>C (p.Gly208Arg) c.480-183G>C (n.480-183G>C) | gnomAD v4 |
| 1 | g.229432045C>T | CA345146652 | ACTA1 | c.757G>A (p.Gly253Ser) c.622G>A (p.Gly208Ser) c.480-183G>A (n.480-183G>A) | COSMIC |
| 1 | g.229432046G>A | CA423754997 | ACTA1 | c.756C>T (p.Ile252=) c.621C>T (p.Ile207=) c.480-184C>T (n.480-184C>T) | dbSNP gnomAD v4 COSMIC |
| 1 | g.229432046G>C | CA345146657 | ACTA1 | c.756C>G (p.Ile252Met) c.621C>G (p.Ile207Met) c.480-184C>G (n.480-184C>G) | COSMIC |
| 1 | g.229432046G= | CA1226125626 | ACTA1 | c.756C= (p.Ile252=) c.621C= (p.Ile207=) c.480-184C= (n.480-184C=) | |
| 1 | g.229432046G>T | CA423754996 | ACTA1 | c.756C>A (p.Ile252=) c.621C>A (p.Ile207=) c.480-184C>A (n.480-184C>A) | gnomAD v4 |
| 1 | g.229432047A>C | CA345146661 | ACTA1 | c.755T>G (p.Ile252Ser) c.620T>G (p.Ile207Ser) c.480-185T>G (n.480-185T>G) | |
| 1 | g.229432047A>G | CA345146663 | ACTA1 | c.755T>C (p.Ile252Thr) c.620T>C (p.Ile207Thr) c.480-185T>C (n.480-185T>C) | |
| 1 | g.229432047A>T | CA345146665 | ACTA1 | c.755T>A (p.Ile252Asn) c.620T>A (p.Ile207Asn) c.480-185T>A (n.480-185T>A) | |
| 1 | g.229432048T>A | CA345146668 | ACTA1 | c.754A>T (p.Ile252Phe) c.619A>T (p.Ile207Phe) c.480-186A>T (n.480-186A>T) | |
| 1 | g.229432048T>C | CA345146669 | ACTA1 | c.754A>G (p.Ile252Val) c.619A>G (p.Ile207Val) c.480-186A>G (n.480-186A>G) | gnomAD v4 |
| 1 | g.229432048T>G | CA345146670 | ACTA1 | c.754A>C (p.Ile252Leu) c.619A>C (p.Ile207Leu) c.480-186A>C (n.480-186A>C) | |
| 1 | g.229432049G>A | CA423755002 | ACTA1 | c.753C>T (p.Thr251=) c.618C>T (p.Thr206=) c.480-187C>T (n.480-187C>T) | gnomAD v4 |
| 1 | g.229432049G>C | CA423755004 | ACTA1 | c.753C>G (p.Thr251=) c.618C>G (p.Thr206=) c.480-187C>G (n.480-187C>G) | |
| 1 | g.229432049G>T | CA423755000 | ACTA1 | c.753C>A (p.Thr251=) c.618C>A (p.Thr206=) c.480-187C>A (n.480-187C>A) | |
| 1 | g.229432050G>A | CA345146673 | ACTA1 | c.752C>T (p.Thr251Ile) c.617C>T (p.Thr206Ile) c.480-188C>T (n.480-188C>T) | |
| 1 | g.229432050G>C | CA345146676 | ACTA1 | c.752C>G (p.Thr251Ser) c.617C>G (p.Thr206Ser) c.480-188C>G (n.480-188C>G) | |
| 1 | g.229432050G>T | CA345146678 | ACTA1 | c.752C>A (p.Thr251Asn) c.617C>A (p.Thr206Asn) c.480-188C>A (n.480-188C>A) | gnomAD v4 |
| 1 | g.229432051T>A | CA345146681 | ACTA1 | c.751A>T (p.Thr251Ser) c.616A>T (p.Thr206Ser) c.480-189A>T (n.480-189A>T) | ClinVar |
| 1 | g.229432051T>C | CA345146684 | ACTA1 | c.751A>G (p.Thr251Ala) c.616A>G (p.Thr206Ala) c.480-189A>G (n.480-189A>G) | |
| 1 | g.229432051T>G | CA345146687 | ACTA1 | c.751A>C (p.Thr251Pro) c.616A>C (p.Thr206Pro) c.480-189A>C (n.480-189A>C) | |
| 1 | g.229432052G>A | CA423755006 | ACTA1 | c.750C>T (p.Ile250=) c.615C>T (p.Ile205=) c.480-190C>T (n.480-190C>T) | |
| 1 | g.229432052G>C | CA345146689 | ACTA1 | c.750C>G (p.Ile250Met) c.615C>G (p.Ile205Met) c.480-190C>G (n.480-190C>G) | |
| 1 | g.229432052G>T | CA423755008 | ACTA1 | c.750C>A (p.Ile250=) c.615C>A (p.Ile205=) c.480-190C>A (n.480-190C>A) | |
| 1 | g.229432053A= | CA1226125627 | ACTA1 | c.749T= (p.Ile250=) c.614T= (p.Ile205=) c.480-191T= (n.480-191T=) | |
| 1 | g.229432053A>C | CA345146697 | ACTA1 | c.749T>G (p.Ile250Ser) c.614T>G (p.Ile205Ser) c.480-191T>G (n.480-191T>G) | |
| 1 | g.229432053A>G | CA345146692 | ACTA1 | c.749T>C (p.Ile250Thr) c.614T>C (p.Ile205Thr) c.480-191T>C (n.480-191T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432053A>T | CA345146695 | ACTA1 | c.749T>A (p.Ile250Asn) c.614T>A (p.Ile205Asn) c.480-191T>A (n.480-191T>A) | |
| 1 | g.229432054T>A | CA345146699 | ACTA1 | c.748A>T (p.Ile250Phe) c.613A>T (p.Ile205Phe) c.480-192A>T (n.480-192A>T) | |
| 1 | g.229432054T>C | CA345146704 | ACTA1 | c.748A>G (p.Ile250Val) c.613A>G (p.Ile205Val) c.480-192A>G (n.480-192A>G) | dbSNP gnomAD v4 |
| 1 | g.229432054T>G | CA345146701 | ACTA1 | c.748A>C (p.Ile250Leu) c.613A>C (p.Ile205Leu) c.480-192A>C (n.480-192A>C) | |
| 1 | g.229432054T= | CA1226125628 | ACTA1 | c.748A= (p.Ile250=) c.613A= (p.Ile205=) c.480-192A= (n.480-192A=) | |
| 1 | g.229432055G>A | CA423755014 | ACTA1 | c.747C>T (p.Val249=) c.612C>T (p.Val204=) c.480-193C>T (n.480-193C>T) | |
| 1 | g.229432055G>C | CA423755015 | ACTA1 | c.747C>G (p.Val249=) c.612C>G (p.Val204=) c.480-193C>G (n.480-193C>G) | |
| 1 | g.229432055G>T | CA423755016 | ACTA1 | c.747C>A (p.Val249=) c.612C>A (p.Val204=) c.480-193C>A (n.480-193C>A) | |
| 1 | g.229432056A>C | CA345146707 | ACTA1 | c.746T>G (p.Val249Gly) c.611T>G (p.Val204Gly) c.480-194T>G (n.480-194T>G) | |
| 1 | g.229432056A>G | CA345146710 | ACTA1 | c.746T>C (p.Val249Ala) c.611T>C (p.Val204Ala) c.480-194T>C (n.480-194T>C) | |
| 1 | g.229432056A>T | CA345146712 | ACTA1 | c.746T>A (p.Val249Asp) c.611T>A (p.Val204Asp) c.480-194T>A (n.480-194T>A) | |
| 1 | g.229432057C>A | CA345146716 | ACTA1 | c.745G>T (p.Val249Phe) c.610G>T (p.Val204Phe) c.480-195G>T (n.480-195G>T) | |
| 1 | g.229432057C= | CA1142322749 | ACTA1 | c.745G= (p.Val249=) c.610G= (p.Val204=) c.480-195G= (n.480-195G=) | |
| 1 | g.229432057C>G | CA345146719 | ACTA1 | c.745G>C (p.Val249Leu) c.610G>C (p.Val204Leu) c.480-195G>C (n.480-195G>C) | |
| 1 | g.229432057C>T | CA1442806 | ACTA1 | c.745G>A (p.Val249Ile) c.610G>A (p.Val204Ile) c.480-195G>A (n.480-195G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432058C>A | CA345146724 | ACTA1 | c.744G>T (p.Gln248His) c.609G>T (p.Gln203His) c.480-196G>T (n.480-196G>T) | |
| 1 | g.229432058C= | CA1226125629 | ACTA1 | c.744G= (p.Gln248=) c.609G= (p.Gln203=) c.480-196G= (n.480-196G=) | |
| 1 | g.229432058C>G | CA345146727 | ACTA1 | c.744G>C (p.Gln248His) c.609G>C (p.Gln203His) c.480-196G>C (n.480-196G>C) | |
| 1 | g.229432058C>T | CA423755021 | ACTA1 | c.744G>A (p.Gln248=) c.609G>A (p.Gln203=) c.480-196G>A (n.480-196G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432059T>A | CA345146730 | ACTA1 | c.743A>T (p.Gln248Leu) c.608A>T (p.Gln203Leu) c.480-197A>T (n.480-197A>T) | |
| 1 | g.229432059T>C | CA345146731 | ACTA1 | c.743A>G (p.Gln248Arg) c.608A>G (p.Gln203Arg) c.480-197A>G (n.480-197A>G) | |
| 1 | g.229432059T>G | CA345146733 | ACTA1 | c.743A>C (p.Gln248Pro) c.608A>C (p.Gln203Pro) c.480-197A>C (n.480-197A>C) | |
| 1 | g.229432060G>A | CA345146741 | ACTA1 | c.742C>T (p.Gln248Ter) c.607C>T (p.Gln203Ter) c.480-198C>T (n.480-198C>T) | |
| 1 | g.229432060G>C | CA345146739 | ACTA1 | c.742C>G (p.Gln248Glu) c.607C>G (p.Gln203Glu) c.480-198C>G (n.480-198C>G) | |
| 1 | g.229432060G= | CA1226125630 | ACTA1 | c.742C= (p.Gln248=) c.607C= (p.Gln203=) c.480-198C= (n.480-198C=) | |
| 1 | g.229432060G>T | CA345146737 | ACTA1 | c.742C>A (p.Gln248Lys) c.607C>A (p.Gln203Lys) c.480-198C>A (n.480-198C>A) | ClinVar dbSNP |
| 1 | g.229432061C>A | CA423755025 | ACTA1 | c.741G>T (p.Gly247=) c.606G>T (p.Gly202=) c.480-199G>T (n.480-199G>T) | dbSNP |
| 1 | g.229432061C= | CA1226125631 | ACTA1 | c.741G= (p.Gly247=) c.606G= (p.Gly202=) c.480-199G= (n.480-199G=) | |
| 1 | g.229432061C>G | CA423755026 | ACTA1 | c.741G>C (p.Gly247=) c.606G>C (p.Gly202=) c.480-199G>C (n.480-199G>C) | dbSNP |
| 1 | g.229432061C>T | CA423755027 | ACTA1 | c.741G>A (p.Gly247=) c.606G>A (p.Gly202=) c.480-199G>A (n.480-199G>A) | gnomAD v4 |
| 1 | g.229432062C>A | CA345146744 | ACTA1 | c.740G>T (p.Gly247Val) c.605G>T (p.Gly202Val) c.480-200G>T (n.480-200G>T) | |
| 1 | g.229432062C>G | CA345146747 | ACTA1 | c.740G>C (p.Gly247Ala) c.605G>C (p.Gly202Ala) c.480-200G>C (n.480-200G>C) | |
| 1 | g.229432062C>T | CA345146748 | ACTA1 | c.740G>A (p.Gly247Glu) c.605G>A (p.Gly202Glu) c.480-200G>A (n.480-200G>A) | gnomAD v4 |
| 1 | g.229432063C>A | CA345146750 | ACTA1 | c.739G>T (p.Gly247Trp) c.604G>T (p.Gly202Trp) c.480-201G>T (n.480-201G>T) | |
| 1 | g.229432063C= | CA1226125632 | ACTA1 | c.739G= (p.Gly247=) c.604G= (p.Gly202=) c.480-201G= (n.480-201G=) | |
| 1 | g.229432063C>G | CA16603588 | ACTA1 | c.739G>C (p.Gly247Arg) c.604G>C (p.Gly202Arg) c.480-201G>C (n.480-201G>C) | ClinVar dbSNP |
| 1 | g.229432063C>T | CA345146753 | ACTA1 | c.739G>A (p.Gly247Arg) c.604G>A (p.Gly202Arg) c.480-201G>A (n.480-201G>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432064G>A | CA1442807 | ACTA1 | c.738C>T (p.Asp246=) c.603C>T (p.Asp201=) c.480-202C>T (n.480-202C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.229432064G>C | CA345146759 | ACTA1 | c.738C>G (p.Asp246Glu) c.603C>G (p.Asp201Glu) c.480-202C>G (n.480-202C>G) | ClinVar |
| 1 | g.229432064G= | CA1148894981 | ACTA1 | c.738C= (p.Asp246=) c.603C= (p.Asp201=) c.480-202C= (n.480-202C=) | |
| 1 | g.229432064G>T | CA345146761 | ACTA1 | c.738C>A (p.Asp246Glu) c.603C>A (p.Asp201Glu) c.480-202C>A (n.480-202C>A) | ClinVar dbSNP |
| 1 | g.229432065T>A | CA345146763 | ACTA1 | c.737A>T (p.Asp246Val) c.602A>T (p.Asp201Val) c.480-203A>T (n.480-203A>T) | |
| 1 | g.229432065T>C | CA345146766 | ACTA1 | c.737A>G (p.Asp246Gly) c.602A>G (p.Asp201Gly) c.480-203A>G (n.480-203A>G) | |
| 1 | g.229432065T>G | CA345146769 | ACTA1 | c.737A>C (p.Asp246Ala) c.602A>C (p.Asp201Ala) c.480-203A>C (n.480-203A>C) | |
| 1 | g.229432066C>A | CA345146777 | ACTA1 | c.736G>T (p.Asp246Tyr) c.601G>T (p.Asp201Tyr) c.480-204G>T (n.480-204G>T) | |
| 1 | g.229432066C>G | CA345146775 | ACTA1 | c.736G>C (p.Asp246His) c.601G>C (p.Asp201His) c.480-204G>C (n.480-204G>C) | |
| 1 | g.229432066C>T | CA345146772 | ACTA1 | c.736G>A (p.Asp246Asn) c.601G>A (p.Asp201Asn) c.480-204G>A (n.480-204G>A) | |
| 1 | g.229432067T>A | CA423755041 | ACTA1 | c.735A>T (p.Pro245=) c.600A>T (p.Pro200=) c.480-205A>T (n.480-205A>T) | dbSNP gnomAD v4 |
| 1 | g.229432067T>C | CA423755046 | ACTA1 | c.735A>G (p.Pro245=) c.600A>G (p.Pro200=) c.480-205A>G (n.480-205A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432067T>G | CA423755043 | ACTA1 | c.735A>C (p.Pro245=) c.600A>C (p.Pro200=) c.480-205A>C (n.480-205A>C) | dbSNP |
| 1 | g.229432067T= | CA1226125633 | ACTA1 | c.735A= (p.Pro245=) c.600A= (p.Pro200=) c.480-205A= (n.480-205A=) | |
| 1 | g.229432068G>A | CA1442808 | ACTA1 | c.734C>T (p.Pro245Leu) c.599C>T (p.Pro200Leu) c.480-206C>T (n.480-206C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432068G>C | CA345146780 | ACTA1 | c.734C>G (p.Pro245Arg) c.599C>G (p.Pro200Arg) c.480-206C>G (n.480-206C>G) | |
| 1 | g.229432068G= | CA1226125634 | ACTA1 | c.734C= (p.Pro245=) c.599C= (p.Pro200=) c.480-206C= (n.480-206C=) | |
| 1 | g.229432068G>T | CA345146782 | ACTA1 | c.734C>A (p.Pro245Gln) c.599C>A (p.Pro200Gln) c.480-206C>A (n.480-206C>A) | |
| 1 | g.229432069G>A | CA345146786 | ACTA1 | c.733C>T (p.Pro245Ser) c.598C>T (p.Pro200Ser) c.480-207C>T (n.480-207C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432069G>C | CA345146788 | ACTA1 | c.733C>G (p.Pro245Ala) c.598C>G (p.Pro200Ala) c.480-207C>G (n.480-207C>G) | |
| 1 | g.229432069G= | CA1226125635 | ACTA1 | c.733C= (p.Pro245=) c.598C= (p.Pro200=) c.480-207C= (n.480-207C=) | |
| 1 | g.229432069G>T | CA345146790 | ACTA1 | c.733C>A (p.Pro245Thr) c.598C>A (p.Pro200Thr) c.480-207C>A (n.480-207C>A) | |
| 1 | g.229432070C>A | CA423755053 | ACTA1 | c.732G>T (p.Leu244=) c.597G>T (p.Leu199=) c.480-208G>T (n.480-208G>T) | |
| 1 | g.229432070C= | CA1226125636 | ACTA1 | c.732G= (p.Leu244=) c.597G= (p.Leu199=) c.480-208G= (n.480-208G=) | |
| 1 | g.229432070C>G | CA423755052 | ACTA1 | c.732G>C (p.Leu244=) c.597G>C (p.Leu199=) c.480-208G>C (n.480-208G>C) | |
| 1 | g.229432070C>T | CA423755051 | ACTA1 | c.732G>A (p.Leu244=) c.597G>A (p.Leu199=) c.480-208G>A (n.480-208G>A) | dbSNP |
| 1 | g.229432071A>C | CA345146794 | ACTA1 | c.731T>G (p.Leu244Arg) c.596T>G (p.Leu199Arg) c.480-209T>G (n.480-209T>G) | |
| 1 | g.229432071A>G | CA345146797 | ACTA1 | c.731T>C (p.Leu244Pro) c.596T>C (p.Leu199Pro) c.480-209T>C (n.480-209T>C) | |
| 1 | g.229432071A>T | CA345146799 | ACTA1 | c.731T>A (p.Leu244Gln) c.596T>A (p.Leu199Gln) c.480-209T>A (n.480-209T>A) | |
| 1 | g.229432072G>A | CA38815633 | ACTA1 | c.730C>T (p.Leu244=) c.595C>T (p.Leu199=) c.480-210C>T (n.480-210C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432072G>C | CA345146802 | ACTA1 | c.730C>G (p.Leu244Val) c.595C>G (p.Leu199Val) c.480-210C>G (n.480-210C>G) | |
| 1 | g.229432072G= | CA1226125637 | ACTA1 | c.730C= (p.Leu244=) c.595C= (p.Leu199=) c.480-210C= (n.480-210C=) | |
| 1 | g.229432072G>T | CA345146805 | ACTA1 | c.730C>A (p.Leu244Met) c.595C>A (p.Leu199Met) c.480-210C>A (n.480-210C>A) | |
| 1 | g.229432073C>A | CA345146808 | ACTA1 | c.729G>T (p.Glu243Asp) c.594G>T (p.Glu198Asp) c.480-211G>T (n.480-211G>T) | |
| 1 | g.229432073C>G | CA345146810 | ACTA1 | c.729G>C (p.Glu243Asp) c.594G>C (p.Glu198Asp) c.480-211G>C (n.480-211G>C) | |
| 1 | g.229432073C>T | CA423755061 | ACTA1 | c.729G>A (p.Glu243=) c.594G>A (p.Glu198=) c.480-211G>A (n.480-211G>A) | |
| 1 | g.229432074T>A | CA345146815 | ACTA1 | c.728A>T (p.Glu243Val) c.593A>T (p.Glu198Val) c.480-212A>T (n.480-212A>T) | |
| 1 | g.229432074T>C | CA345146817 | ACTA1 | c.728A>G (p.Glu243Gly) c.593A>G (p.Glu198Gly) c.480-212A>G (n.480-212A>G) | |
| 1 | g.229432074T>G | CA345146814 | ACTA1 | c.728A>C (p.Glu243Ala) c.593A>C (p.Glu198Ala) c.480-212A>C (n.480-212A>C) | |
| 1 | g.229432075C>A | CA345146819 | ACTA1 | c.727G>T (p.Glu243Ter) c.592G>T (p.Glu198Ter) c.480-213G>T (n.480-213G>T) | |
| 1 | g.229432075C= | CA1143538616 | ACTA1 | c.727G= (p.Glu243=) c.592G= (p.Glu198=) c.480-213G= (n.480-213G=) | |
| 1 | g.229432075C>G | CA345146823 | ACTA1 | c.727G>C (p.Glu243Gln) c.592G>C (p.Glu198Gln) c.480-213G>C (n.480-213G>C) | ClinVar |
| 1 | g.229432075C>T | CA344563 | ACTA1 | c.727G>A (p.Glu243Lys) c.592G>A (p.Glu198Lys) c.480-213G>A (n.480-213G>A) | ClinVar dbSNP |
| 1 | g.229432076G>A | CA423755069 | ACTA1 | c.726C>T (p.Tyr242=) c.591C>T (p.Tyr197=) c.480-214C>T (n.480-214C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.229432076G>C | CA345146828 | ACTA1 | c.726C>G (p.Tyr242Ter) c.591C>G (p.Tyr197Ter) c.480-214C>G (n.480-214C>G) | dbSNP |
| 1 | g.229432076G= | CA1226125638 | ACTA1 | c.726C= (p.Tyr242=) c.591C= (p.Tyr197=) c.480-214C= (n.480-214C=) | |
| 1 | g.229432076G>T | CA345146830 | ACTA1 | c.726C>A (p.Tyr242Ter) c.591C>A (p.Tyr197Ter) c.480-214C>A (n.480-214C>A) | |
| 1 | g.229432077T>A | CA345146838 | ACTA1 | c.725A>T (p.Tyr242Phe) c.590A>T (p.Tyr197Phe) c.480-215A>T (n.480-215A>T) | |
| 1 | g.229432077T>C | CA345146833 | ACTA1 | c.725A>G (p.Tyr242Cys) c.590A>G (p.Tyr197Cys) c.480-215A>G (n.480-215A>G) | |
| 1 | g.229432077T>G | CA345146836 | ACTA1 | c.725A>C (p.Tyr242Ser) c.590A>C (p.Tyr197Ser) c.480-215A>C (n.480-215A>C) | |
| 1 | g.229432078A>C | CA345146843 | ACTA1 | c.724T>G (p.Tyr242Asp) c.589T>G (p.Tyr197Asp) c.480-216T>G (n.480-216T>G) | |
| 1 | g.229432078A>G | CA345146846 | ACTA1 | c.724T>C (p.Tyr242His) c.589T>C (p.Tyr197His) c.480-216T>C (n.480-216T>C) | |
| 1 | g.229432078A>T | CA345146848 | ACTA1 | c.724T>A (p.Tyr242Asn) c.589T>A (p.Tyr197Asn) c.480-216T>A (n.480-216T>A) | |
| 1 | g.229432079G>A | CA1442809 | ACTA1 | c.723C>T (p.Ser241=) c.588C>T (p.Ser196=) c.480-217C>T (n.480-217C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432079G>C | CA345146853 | ACTA1 | c.723C>G (p.Ser241Arg) c.588C>G (p.Ser196Arg) c.480-217C>G (n.480-217C>G) | |
| 1 | g.229432079G= | CA1145367119 | ACTA1 | c.723C= (p.Ser241=) c.588C= (p.Ser196=) c.480-217C= (n.480-217C=) | |
| 1 | g.229432079G>T | CA345146856 | ACTA1 | c.723C>A (p.Ser241Arg) c.588C>A (p.Ser196Arg) c.480-217C>A (n.480-217C>A) | ClinVar gnomAD v4 |
| 1 | g.229432080C>A | CA345146865 | ACTA1 | c.722G>T (p.Ser241Ile) c.587G>T (p.Ser196Ile) c.480-218G>T (n.480-218G>T) | |
| 1 | g.229432080C= | CA1149146925 | ACTA1 | c.722G= (p.Ser241=) c.587G= (p.Ser196=) c.480-218G= (n.480-218G=) | |
| 1 | g.229432080C>G | CA345146863 | ACTA1 | c.722G>C (p.Ser241Thr) c.587G>C (p.Ser196Thr) c.480-218G>C (n.480-218G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432080C>T | CA1442810 | ACTA1 | c.722G>A (p.Ser241Asn) c.587G>A (p.Ser196Asn) c.480-218G>A (n.480-218G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432081T>A | CA345146868 | ACTA1 | c.721A>T (p.Ser241Cys) c.586A>T (p.Ser196Cys) c.480-219A>T (n.480-219A>T) | |
| 1 | g.229432081T>C | CA345146870 | ACTA1 | c.721A>G (p.Ser241Gly) c.586A>G (p.Ser196Gly) c.480-219A>G (n.480-219A>G) | |
| 1 | g.229432081T>G | CA345146873 | ACTA1 | c.721A>C (p.Ser241Arg) c.586A>C (p.Ser196Arg) c.480-219A>C (n.480-219A>C) | |
| 1 | g.229432082C>A | CA345146875 | ACTA1 | c.720G>T (p.Lys240Asn) c.585G>T (p.Lys195Asn) c.480-220G>T (n.480-220G>T) | gnomAD v4 |
| 1 | g.229432082C= | CA1226125639 | ACTA1 | c.720G= (p.Lys240=) c.585G= (p.Lys195=) c.480-220G= (n.480-220G=) | |
| 1 | g.229432082C>G | CA345146877 | ACTA1 | c.720G>C (p.Lys240Asn) c.585G>C (p.Lys195Asn) c.480-220G>C (n.480-220G>C) | |
| 1 | g.229432082C>T | CA1442811 | ACTA1 | c.720G>A (p.Lys240=) c.585G>A (p.Lys195=) c.480-220G>A (n.480-220G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432083T>A | CA345146885 | ACTA1 | c.719A>T (p.Lys240Met) c.584A>T (p.Lys195Met) c.480-221A>T (n.480-221A>T) | |
| 1 | g.229432083T>C | CA345146880 | ACTA1 | c.719A>G (p.Lys240Arg) c.584A>G (p.Lys195Arg) c.480-221A>G (n.480-221A>G) | |
| 1 | g.229432083T>G | CA345146883 | ACTA1 | c.719A>C (p.Lys240Thr) c.584A>C (p.Lys195Thr) c.480-221A>C (n.480-221A>C) | |
| 1 | g.229432084T>A | CA345146888 | ACTA1 | c.718A>T (p.Lys240Ter) c.583A>T (p.Lys195Ter) c.480-222A>T (n.480-222A>T) | |
| 1 | g.229432084T>C | CA345146891 | ACTA1 | c.718A>G (p.Lys240Glu) c.583A>G (p.Lys195Glu) c.480-222A>G (n.480-222A>G) | |
| 1 | g.229432084T>G | CA345146894 | ACTA1 | c.718A>C (p.Lys240Gln) c.583A>C (p.Lys195Gln) c.480-222A>C (n.480-222A>C) | |
| 1 | g.229432085T>A | CA345146897 | ACTA1 | c.717A>T (p.Glu239Asp) c.582A>T (p.Glu194Asp) c.480-223A>T (n.480-223A>T) | |
| 1 | g.229432085T>C | CA423755094 | ACTA1 | c.717A>G (p.Glu239=) c.582A>G (p.Glu194=) c.480-223A>G (n.480-223A>G) | dbSNP gnomAD v4 |
| 1 | g.229432085T>G | CA345146900 | ACTA1 | c.717A>C (p.Glu239Asp) c.582A>C (p.Glu194Asp) c.480-223A>C (n.480-223A>C) | |
| 1 | g.229432085T= | CA1226125640 | ACTA1 | c.717A= (p.Glu239=) c.582A= (p.Glu194=) c.480-223A= (n.480-223A=) | |
| 1 | g.229432086T>A | CA345146906 | ACTA1 | c.716A>T (p.Glu239Val) c.581A>T (p.Glu194Val) c.480-224A>T (n.480-224A>T) | |
| 1 | g.229432086T>C | CA345146903 | ACTA1 | c.716A>G (p.Glu239Gly) c.581A>G (p.Glu194Gly) c.480-224A>G (n.480-224A>G) | ClinVar |
| 1 | g.229432086T>G | CA345146905 | ACTA1 | c.716A>C (p.Glu239Ala) c.581A>C (p.Glu194Ala) c.480-224A>C (n.480-224A>C) | |
| 1 | g.229432087C>A | CA345146909 | ACTA1 | c.715G>T (p.Glu239Ter) c.580G>T (p.Glu194Ter) c.480-225G>T (n.480-225G>T) | |
| 1 | g.229432087C= | CA1226125641 | ACTA1 | c.715G= (p.Glu239=) c.580G= (p.Glu194=) c.480-225G= (n.480-225G=) | |
| 1 | g.229432087C>G | CA345146911 | ACTA1 | c.715G>C (p.Glu239Gln) c.580G>C (p.Glu194Gln) c.480-225G>C (n.480-225G>C) | |
| 1 | g.229432087C>T | CA10606300 | ACTA1 | c.715G>A (p.Glu239Lys) c.580G>A (p.Glu194Lys) c.480-225G>A (n.480-225G>A) | ClinVar dbSNP |
| 1 | g.229432088C>A | CA423755098 | ACTA1 | c.714G>T (p.Leu238=) c.579G>T (p.Leu193=) c.480-226G>T (n.480-226G>T) | |
| 1 | g.229432088C>G | CA423755099 | ACTA1 | c.714G>C (p.Leu238=) c.579G>C (p.Leu193=) c.480-226G>C (n.480-226G>C) | |
| 1 | g.229432088C>T | CA423755101 | ACTA1 | c.714G>A (p.Leu238=) c.579G>A (p.Leu193=) c.480-226G>A (n.480-226G>A) | gnomAD v4 |
| 1 | g.229432089A= | CA1226125643 | ACTA1 | c.713T= (p.Leu238=) c.578T= (p.Leu193=) c.480-227T= (n.480-227T=) | |
| 1 | g.229432089A>C | CA345146915 | ACTA1 | c.713T>G (p.Leu238Arg) c.578T>G (p.Leu193Arg) c.480-227T>G (n.480-227T>G) | |
| 1 | g.229432089A>G | CA345146916 | ACTA1 | c.713T>C (p.Leu238Pro) c.578T>C (p.Leu193Pro) c.480-227T>C (n.480-227T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432089A>T | CA345146919 | ACTA1 | c.713T>A (p.Leu238Gln) c.578T>A (p.Leu193Gln) c.480-227T>A (n.480-227T>A) | |
| 1 | g.229432089_229432090delinsAG | CA1226125642 | ACTA1 | c.712_713delinsCT (p.Leu238=) c.577_578delinsCT (p.Leu193=) c.480-228_480-227delinsCT (n.480-228_480-227delinsCT) |