| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.55017594T>A | CA413294491 | ALAS2 | c.895A>T (p.Lys299Ter) c.784A>T (p.Lys262Ter) c.856A>T (p.Lys286Ter) n.612A>T n.186A>T c.967A>T (p.Lys323Ter) c.34A>T (p.Lys12Ter) | |
| X | g.55017594T>C | CA413294493 | ALAS2 | c.895A>G (p.Lys299Glu) c.784A>G (p.Lys262Glu) c.856A>G (p.Lys286Glu) n.612A>G n.186A>G c.967A>G (p.Lys323Glu) c.34A>G (p.Lys12Glu) | |
| X | g.55017594T>G | CA121081 | ALAS2 | c.895A>C (p.Lys299Gln) c.784A>C (p.Lys262Gln) c.856A>C (p.Lys286Gln) n.612A>C n.186A>C c.967A>C (p.Lys323Gln) c.34A>C (p.Lys12Gln) | ClinVar dbSNP |
| X | g.55017594T= | CA2430391393 | ALAS2 | c.895A= (p.Lys299=) c.784A= (p.Lys262=) c.856A= (p.Lys286=) n.612A= n.186A= c.967A= (p.Lys323=) c.34A= (p.Lys12=) | |
| X | g.55017595G>A | CA516582655 | ALAS2 | c.894C>T (p.Ala298=) c.783C>T (p.Ala261=) c.855C>T (p.Ala285=) n.611C>T n.185C>T c.966C>T (p.Ala322=) c.33C>T (p.Ala11=) | |
| X | g.55017595G>C | CA516582656 | ALAS2 | c.894C>G (p.Ala298=) c.783C>G (p.Ala261=) c.855C>G (p.Ala285=) n.611C>G n.185C>G c.966C>G (p.Ala322=) c.33C>G (p.Ala11=) | |
| X | g.55017595G>T | CA516582657 | ALAS2 | c.894C>A (p.Ala298=) c.783C>A (p.Ala261=) c.855C>A (p.Ala285=) n.611C>A n.185C>A c.966C>A (p.Ala322=) c.33C>A (p.Ala11=) | |
| X | g.55017596G>A | CA413294496 | ALAS2 | c.893C>T (p.Ala298Val) c.782C>T (p.Ala261Val) c.854C>T (p.Ala285Val) n.610C>T n.184C>T c.965C>T (p.Ala322Val) c.32C>T (p.Ala11Val) | |
| X | g.55017596G>C | CA413294497 | ALAS2 | c.893C>G (p.Ala298Gly) c.782C>G (p.Ala261Gly) c.854C>G (p.Ala285Gly) n.610C>G n.184C>G c.965C>G (p.Ala322Gly) c.32C>G (p.Ala11Gly) | |
| X | g.55017596G>T | CA413294499 | ALAS2 | c.893C>A (p.Ala298Asp) c.782C>A (p.Ala261Asp) c.854C>A (p.Ala285Asp) n.610C>A n.184C>A c.965C>A (p.Ala322Asp) c.32C>A (p.Ala11Asp) | |
| X | g.55017597C>A | CA413294501 | ALAS2 | c.892G>T (p.Ala298Ser) c.781G>T (p.Ala261Ser) c.853G>T (p.Ala285Ser) n.609G>T n.183G>T c.964G>T (p.Ala322Ser) c.31G>T (p.Ala11Ser) | |
| X | g.55017597C>G | CA413294504 | ALAS2 | c.892G>C (p.Ala298Pro) c.781G>C (p.Ala261Pro) c.853G>C (p.Ala285Pro) n.609G>C n.183G>C c.964G>C (p.Ala322Pro) c.31G>C (p.Ala11Pro) | |
| X | g.55017597C>T | CA413294502 | ALAS2 | c.892G>A (p.Ala298Thr) c.781G>A (p.Ala261Thr) c.853G>A (p.Ala285Thr) n.609G>A n.183G>A c.964G>A (p.Ala322Thr) c.31G>A (p.Ala11Thr) | gnomAD v4 |
| X | g.55017598T>A | CA10428365 | ALAS2 | c.891A>T (p.Ala297=) c.780A>T (p.Ala260=) c.852A>T (p.Ala284=) n.608A>T n.182A>T c.963A>T (p.Ala321=) c.30A>T (p.Ala10=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.55017598T>C | CA516582659 | ALAS2 | c.891A>G (p.Ala297=) c.780A>G (p.Ala260=) c.852A>G (p.Ala284=) n.608A>G n.182A>G c.963A>G (p.Ala321=) c.30A>G (p.Ala10=) | gnomAD v4 |
| X | g.55017598T>G | CA516582658 | ALAS2 | c.891A>C (p.Ala297=) c.780A>C (p.Ala260=) c.852A>C (p.Ala284=) n.608A>C n.182A>C c.963A>C (p.Ala321=) c.30A>C (p.Ala10=) | |
| X | g.55017598T= | CA2430391394 | ALAS2 | c.891A= (p.Ala297=) c.780A= (p.Ala260=) c.852A= (p.Ala284=) n.608A= n.182A= c.963A= (p.Ala321=) c.30A= (p.Ala10=) | |
| X | g.55017599G>A | CA413294506 | ALAS2 | c.890C>T (p.Ala297Val) c.779C>T (p.Ala260Val) c.851C>T (p.Ala284Val) n.607C>T n.181C>T c.962C>T (p.Ala321Val) c.29C>T (p.Ala10Val) | |
| X | g.55017599G>C | CA413294508 | ALAS2 | c.890C>G (p.Ala297Gly) c.779C>G (p.Ala260Gly) c.851C>G (p.Ala284Gly) n.607C>G n.181C>G c.962C>G (p.Ala321Gly) c.29C>G (p.Ala10Gly) | |
| X | g.55017599G>T | CA413294510 | ALAS2 | c.890C>A (p.Ala297Glu) c.779C>A (p.Ala260Glu) c.851C>A (p.Ala284Glu) n.607C>A n.181C>A c.962C>A (p.Ala321Glu) c.29C>A (p.Ala10Glu) | |
| X | g.55017600C>A | CA413294511 | ALAS2 | c.889G>T (p.Ala297Ser) c.778G>T (p.Ala260Ser) c.850G>T (p.Ala284Ser) n.606G>T n.180G>T c.961G>T (p.Ala321Ser) c.28G>T (p.Ala10Ser) | COSMIC COSMIC COSMIC |
| X | g.55017600C>G | CA413294513 | ALAS2 | c.889G>C (p.Ala297Pro) c.778G>C (p.Ala260Pro) c.850G>C (p.Ala284Pro) n.606G>C n.180G>C c.961G>C (p.Ala321Pro) c.28G>C (p.Ala10Pro) | |
| X | g.55017600C>T | CA413294515 | ALAS2 | c.889G>A (p.Ala297Thr) c.778G>A (p.Ala260Thr) c.850G>A (p.Ala284Thr) n.606G>A n.180G>A c.961G>A (p.Ala321Thr) c.28G>A (p.Ala10Thr) | gnomAD v4 |
| X | g.55017601T>A | CA516582661 | ALAS2 | c.888A>T (p.Gly296=) c.777A>T (p.Gly259=) c.849A>T (p.Gly283=) n.605A>T n.179A>T c.960A>T (p.Gly320=) c.27A>T (p.Gly9=) | COSMIC COSMIC COSMIC |
| X | g.55017601T>C | CA328972124 | ALAS2 | c.888A>G (p.Gly296=) c.777A>G (p.Gly259=) c.849A>G (p.Gly283=) n.605A>G n.179A>G c.960A>G (p.Gly320=) c.27A>G (p.Gly9=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.55017601T>G | CA516582662 | ALAS2 | c.888A>C (p.Gly296=) c.777A>C (p.Gly259=) c.849A>C (p.Gly283=) n.605A>C n.179A>C c.960A>C (p.Gly320=) c.27A>C (p.Gly9=) | |
| X | g.55017601T= | CA2430391395 | ALAS2 | c.888A= (p.Gly296=) c.777A= (p.Gly259=) c.849A= (p.Gly283=) n.605A= n.179A= c.960A= (p.Gly320=) c.27A= (p.Gly9=) | |
| X | g.55017602C>A | CA413294521 | ALAS2 | c.887G>T (p.Gly296Val) c.776G>T (p.Gly259Val) c.848G>T (p.Gly283Val) n.604G>T n.178G>T c.959G>T (p.Gly320Val) c.26G>T (p.Gly9Val) | |
| X | g.55017602C= | CA2430391396 | ALAS2 | c.887G= (p.Gly296=) c.776G= (p.Gly259=) c.848G= (p.Gly283=) n.604G= n.178G= c.959G= (p.Gly320=) c.26G= (p.Gly9=) | |
| X | g.55017602C>G | CA413294517 | ALAS2 | c.887G>C (p.Gly296Ala) c.776G>C (p.Gly259Ala) c.848G>C (p.Gly283Ala) n.604G>C n.178G>C c.959G>C (p.Gly320Ala) c.26G>C (p.Gly9Ala) | |
| X | g.55017602C>T | CA413294519 | ALAS2 | c.887G>A (p.Gly296Glu) c.776G>A (p.Gly259Glu) c.848G>A (p.Gly283Glu) n.604G>A n.178G>A c.959G>A (p.Gly320Glu) c.26G>A (p.Gly9Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.55017603C>A | CA413294522 | ALAS2 | c.886G>T (p.Gly296Ter) c.775G>T (p.Gly259Ter) c.847G>T (p.Gly283Ter) n.603G>T n.177G>T c.958G>T (p.Gly320Ter) c.25G>T (p.Gly9Ter) | |
| X | g.55017603C= | CA2430391397 | ALAS2 | c.886G= (p.Gly296=) c.775G= (p.Gly259=) c.847G= (p.Gly283=) n.603G= n.177G= c.958G= (p.Gly320=) c.25G= (p.Gly9=) | |
| X | g.55017603C>G | CA413294523 | ALAS2 | c.886G>C (p.Gly296Arg) c.775G>C (p.Gly259Arg) c.847G>C (p.Gly283Arg) n.603G>C n.177G>C c.958G>C (p.Gly320Arg) c.25G>C (p.Gly9Arg) | |
| X | g.55017603C>T | CA10428366 | ALAS2 | c.886G>A (p.Gly296Arg) c.775G>A (p.Gly259Arg) c.847G>A (p.Gly283Arg) n.603G>A n.177G>A c.958G>A (p.Gly320Arg) c.25G>A (p.Gly9Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.55017604A>C | CA413294525 | ALAS2 | c.885T>G (p.Ser295Arg) c.774T>G (p.Ser258Arg) c.846T>G (p.Ser282Arg) n.602T>G n.176T>G c.957T>G (p.Ser319Arg) c.24T>G (p.Ser8Arg) | |
| X | g.55017604A>G | CA516582663 | ALAS2 | c.885T>C (p.Ser295=) c.774T>C (p.Ser258=) c.846T>C (p.Ser282=) n.602T>C n.176T>C c.957T>C (p.Ser319=) c.24T>C (p.Ser8=) | gnomAD v4 |
| X | g.55017604A>T | CA413294527 | ALAS2 | c.885T>A (p.Ser295Arg) c.774T>A (p.Ser258Arg) c.846T>A (p.Ser282Arg) n.602T>A n.176T>A c.957T>A (p.Ser319Arg) c.24T>A (p.Ser8Arg) | |
| X | g.55017605C>A | CA413294528 | ALAS2 | c.884G>T (p.Ser295Ile) c.773G>T (p.Ser258Ile) c.845G>T (p.Ser282Ile) n.601G>T n.175G>T c.956G>T (p.Ser319Ile) c.23G>T (p.Ser8Ile) | |
| X | g.55017605C>G | CA413294531 | ALAS2 | c.884G>C (p.Ser295Thr) c.773G>C (p.Ser258Thr) c.845G>C (p.Ser282Thr) n.601G>C n.175G>C c.956G>C (p.Ser319Thr) c.23G>C (p.Ser8Thr) | |
| X | g.55017605C>T | CA413294530 | ALAS2 | c.884G>A (p.Ser295Asn) c.773G>A (p.Ser258Asn) c.845G>A (p.Ser282Asn) n.601G>A n.175G>A c.956G>A (p.Ser319Asn) c.23G>A (p.Ser8Asn) | |
| X | g.55017606T>A | CA413294533 | ALAS2 | c.883A>T (p.Ser295Cys) c.772A>T (p.Ser258Cys) c.844A>T (p.Ser282Cys) n.600A>T n.174A>T c.955A>T (p.Ser319Cys) c.22A>T (p.Ser8Cys) | |
| X | g.55017606T>C | CA413294534 | ALAS2 | c.883A>G (p.Ser295Gly) c.772A>G (p.Ser258Gly) c.844A>G (p.Ser282Gly) n.600A>G n.174A>G c.955A>G (p.Ser319Gly) c.22A>G (p.Ser8Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.55017606T>G | CA413294535 | ALAS2 | c.883A>C (p.Ser295Arg) c.772A>C (p.Ser258Arg) c.844A>C (p.Ser282Arg) n.600A>C n.174A>C c.955A>C (p.Ser319Arg) c.22A>C (p.Ser8Arg) | |
| X | g.55017606T= | CA2430391398 | ALAS2 | c.883A= (p.Ser295=) c.772A= (p.Ser258=) c.844A= (p.Ser282=) n.600A= n.174A= c.955A= (p.Ser319=) c.22A= (p.Ser8=) | |
| X | g.55017607G>A | CA516582664 | ALAS2 | c.882C>T (p.Asn294=) c.771C>T (p.Asn257=) c.843C>T (p.Asn281=) n.599C>T n.173C>T c.954C>T (p.Asn318=) c.21C>T (p.Asn7=) | |
| X | g.55017607G>C | CA413294537 | ALAS2 | c.882C>G (p.Asn294Lys) c.771C>G (p.Asn257Lys) c.843C>G (p.Asn281Lys) n.599C>G n.173C>G c.954C>G (p.Asn318Lys) c.21C>G (p.Asn7Lys) | |
| X | g.55017607G>T | CA413294539 | ALAS2 | c.882C>A (p.Asn294Lys) c.771C>A (p.Asn257Lys) c.843C>A (p.Asn281Lys) n.599C>A n.173C>A c.954C>A (p.Asn318Lys) c.21C>A (p.Asn7Lys) | |
| X | g.55017608T>A | CA413294541 | ALAS2 | c.881A>T (p.Asn294Ile) c.770A>T (p.Asn257Ile) c.842A>T (p.Asn281Ile) n.598A>T n.172A>T c.953A>T (p.Asn318Ile) c.20A>T (p.Asn7Ile) | |
| X | g.55017608T>C | CA413294543 | ALAS2 | c.881A>G (p.Asn294Ser) c.770A>G (p.Asn257Ser) c.842A>G (p.Asn281Ser) n.598A>G n.172A>G c.953A>G (p.Asn318Ser) c.20A>G (p.Asn7Ser) |