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 |
|---|---|---|---|---|---|
| 17 | g.73193226_73193241dup | CA774874972 | COG1 | c.157_172dup (p.Asp58GlyfsTer?) c.155_170dup c.134_149dup | dbSNP |
| 17 | g.73193241G>A | CA400879480 | COG1 | c.172G>A (p.Asp58Asn) c.170G>A c.149G>A | |
| 17 | g.73193241G>C | CA400879483 | COG1 | c.172G>C (p.Asp58His) c.170G>C c.149G>C | gnomAD v4 |
| 17 | g.73193241G= | CA2274430343 | COG1 | c.172G= (p.Asp58=) c.170G= c.149G= | |
| 17 | g.73193241G>T | CA400879484 | COG1 | c.172G>T (p.Asp58Tyr) c.170G>T c.149G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.73193242A>C | CA400879490 | COG1 | c.173A>C (p.Asp58Ala) c.171A>C c.150A>C | |
| 17 | g.73193242A>G | CA400879495 | COG1 | c.173A>G (p.Asp58Gly) c.171A>G c.150A>G | |
| 17 | g.73193242A>T | CA400879499 | COG1 | c.173A>T (p.Asp58Val) c.171A>T c.150A>T | |
| 17 | g.73193243C>A | CA400879506 | COG1 | c.174C>A (p.Asp58Glu) c.172C>A c.151C>A | |
| 17 | g.73193243C>G | CA400879509 | COG1 | c.174C>G (p.Asp58Glu) c.172C>G c.151C>G | gnomAD v4 |
| 17 | g.73193243C>T | CA502026733 | COG1 | c.174C>T (p.Asp58=) c.172C>T c.151C>T | |
| 17 | g.73193244C>A | CA400879515 | COG1 | c.175C>A (p.Leu59Met) c.173C>A c.152C>A | |
| 17 | g.73193244C>G | CA400879520 | COG1 | c.175C>G (p.Leu59Val) c.173C>G c.152C>G | |
| 17 | g.73193244C>T | CA502026734 | COG1 | c.175C>T (p.Leu59=) c.173C>T c.152C>T | |
| 17 | g.73193245T>A | CA400879523 | COG1 | c.176T>A (p.Leu59Gln) c.174T>A c.153T>A | |
| 17 | g.73193245T>C | CA400879526 | COG1 | c.176T>C (p.Leu59Pro) c.174T>C c.153T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193245T>G | CA400879530 | COG1 | c.176T>G (p.Leu59Arg) c.174T>G c.153T>G | |
| 17 | g.73193245T= | CA2274430344 | COG1 | c.176T= (p.Leu59=) c.174T= c.153T= | |
| 17 | g.73193246G>A | CA8739899 | COG1 | c.177G>A (p.Leu59=) c.175G>A c.154G>A | dbSNP ExAC gnomAD v2 |
| 17 | g.73193246G>C | CA502026735 | COG1 | c.177G>C (p.Leu59=) c.175G>C c.154G>C | |
| 17 | g.73193246G= | CA2274430345 | COG1 | c.177G= (p.Leu59=) c.175G= c.154G= | |
| 17 | g.73193246G>T | CA502026736 | COG1 | c.177G>T (p.Leu59=) c.175G>T c.154G>T | gnomAD v4 |
| 17 | g.73193247A>C | CA400879531 | COG1 | c.178A>C (p.Ile60Leu) c.176A>C c.155A>C | |
| 17 | g.73193247A>G | CA400879532 | COG1 | c.178A>G (p.Ile60Val) c.176A>G c.155A>G | |
| 17 | g.73193247A>T | CA400879536 | COG1 | c.178A>T (p.Ile60Phe) c.176A>T c.155A>T | |
| 17 | g.73193248T>A | CA400879540 | COG1 | c.179T>A (p.Ile60Asn) c.177T>A c.156T>A | |
| 17 | g.73193248T>C | CA400879545 | COG1 | c.179T>C (p.Ile60Thr) c.177T>C c.156T>C | |
| 17 | g.73193248T>G | CA400879549 | COG1 | c.179T>G (p.Ile60Ser) c.177T>G c.156T>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193248T= | CA2274430346 | COG1 | c.179T= (p.Ile60=) c.177T= c.156T= | |
| 17 | g.73193249C>A | CA502026737 | COG1 | c.180C>A (p.Ile60=) c.178C>A c.157C>A | |
| 17 | g.73193249C= | CA2274430347 | COG1 | c.180C= (p.Ile60=) c.178C= c.157C= | |
| 17 | g.73193249C>G | CA293797024 | COG1 | c.180C>G (p.Ile60Met) c.178C>G c.157C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193249C>T | CA502026738 | COG1 | c.180C>T (p.Ile60=) c.178C>T c.157C>T | gnomAD v4 |
| 17 | g.73193250G>A | CA400879564 | COG1 | c.181G>A (p.Glu61Lys) c.179G>A c.158G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.73193250G>C | CA293797025 | COG1 | c.181G>C (p.Glu61Gln) c.179G>C c.158G>C | dbSNP gnomAD v4 |
| 17 | g.73193250G= | CA2274430348 | COG1 | c.181G= (p.Glu61=) c.179G= c.158G= | |
| 17 | g.73193250G>T | CA400879561 | COG1 | c.181G>T (p.Glu61Ter) c.179G>T c.158G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193251A= | CA2274430349 | COG1 | c.182A= (p.Glu61=) c.180A= c.159A= | |
| 17 | g.73193251A>C | CA400879568 | COG1 | c.182A>C (p.Glu61Ala) c.180A>C c.159A>C | |
| 17 | g.73193251A>G | CA400879574 | COG1 | c.182A>G (p.Glu61Gly) c.180A>G c.159A>G | |
| 17 | g.73193251A>T | CA400879589 | COG1 | c.182A>T (p.Glu61Val) c.180A>T c.159A>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73193252G>A | CA502026739 | COG1 | c.183G>A (p.Glu61=) c.181G>A c.160G>A | gnomAD v4 COSMIC |
| 17 | g.73193252G>C | CA400879590 | COG1 | c.183G>C (p.Glu61Asp) c.181G>C c.160G>C | |
| 17 | g.73193252G>T | CA400879591 | COG1 | c.183G>T (p.Glu61Asp) c.181G>T c.160G>T | gnomAD v4 |
| 17 | g.73193253G>A | CA400879594 | COG1 | c.184G>A (p.Ala62Thr) c.182G>A c.161G>A | |
| 17 | g.73193253G>C | CA400879597 | COG1 | c.184G>C (p.Ala62Pro) c.182G>C c.161G>C | |
| 17 | g.73193253G>T | CA400879601 | COG1 | c.184G>T (p.Ala62Ser) c.182G>T c.161G>T | gnomAD v4 |
| 17 | g.73193254C>A | CA400879606 | COG1 | c.185C>A (p.Ala62Glu) c.183C>A c.162C>A | |
| 17 | g.73193254C>G | CA400879611 | COG1 | c.185C>G (p.Ala62Gly) c.183C>G c.162C>G | |
| 17 | g.73193254C>T | CA400879616 | COG1 | c.185C>T (p.Ala62Val) c.183C>T c.162C>T | |
| 17 | g.73193255G>A | CA502026740 | COG1 | c.186G>A (p.Ala62=) c.184G>A c.163G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193255G>C | CA502026742 | COG1 | c.186G>C (p.Ala62=) c.184G>C c.163G>C | |
| 17 | g.73193255G= | CA2274430350 | COG1 | c.186G= (p.Ala62=) c.184G= c.163G= | |
| 17 | g.73193255G>T | CA502026741 | COG1 | c.186G>T (p.Ala62=) c.184G>T c.163G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193256G>A | CA400879628 | COG1 | c.187G>A (p.Ala63Thr) c.185G>A c.164G>A | dbSNP gnomAD v4 |
| 17 | g.73193256G>C | CA400879621 | COG1 | c.187G>C (p.Ala63Pro) c.185G>C c.164G>C | |
| 17 | g.73193256G= | CA2274430351 | COG1 | c.187G= (p.Ala63=) c.185G= c.164G= | |
| 17 | g.73193256G>T | CA400879624 | COG1 | c.187G>T (p.Ala63Ser) c.185G>T c.164G>T | |
| 17 | g.73193257C>A | CA400879634 | COG1 | c.188C>A (p.Ala63Asp) c.186C>A c.165C>A | |
| 17 | g.73193257C>G | CA400879639 | COG1 | c.188C>G (p.Ala63Gly) c.186C>G c.165C>G | |
| 17 | g.73193257C>T | CA400879642 | COG1 | c.188C>T (p.Ala63Val) c.186C>T c.165C>T | gnomAD v4 |
| 17 | g.73193258C>A | CA8739900 | COG1 | c.189C>A (p.Ala63=) c.187C>A c.166C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73193258C= | CA2274430352 | COG1 | c.189C= (p.Ala63=) c.187C= c.166C= | |
| 17 | g.73193258C>G | CA502026744 | COG1 | c.189C>G (p.Ala63=) c.187C>G c.166C>G | |
| 17 | g.73193258C>T | CA502026743 | COG1 | c.189C>T (p.Ala63=) c.187C>T c.166C>T | |
| 17 | g.73193259G>A | CA8739901 | COG1 | c.190G>A (p.Asp64Asn) c.188G>A c.167G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.73193259G>C | CA400879651 | COG1 | c.190G>C (p.Asp64His) c.188G>C c.167G>C | |
| 17 | g.73193259G= | CA2274430353 | COG1 | c.190G= (p.Asp64=) c.188G= c.167G= | |
| 17 | g.73193259G>T | CA8739902 | COG1 | c.190G>T (p.Asp64Tyr) c.188G>T c.167G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73193260A>C | CA400879659 | COG1 | c.191A>C (p.Asp64Ala) c.189A>C c.168A>C | |
| 17 | g.73193260A>G | CA400879664 | COG1 | c.191A>G (p.Asp64Gly) c.189A>G c.168A>G | |
| 17 | g.73193260A>T | CA400879680 | COG1 | c.191A>T (p.Asp64Val) c.189A>T c.168A>T | |
| 17 | g.73193261C>A | CA400879685 | COG1 | c.192C>A (p.Asp64Glu) c.190C>A c.169C>A | gnomAD v4 |
| 17 | g.73193261C>G | CA400879688 | COG1 | c.192C>G (p.Asp64Glu) c.190C>G c.169C>G | |
| 17 | g.73193261C>T | CA502026745 | COG1 | c.192C>T (p.Asp64=) c.190C>T c.169C>T | |
| 17 | g.73193262A= | CA2274430354 | COG1 | c.193A= (p.Thr65=) c.191A= c.170A= | |
| 17 | g.73193262A>C | CA400879692 | COG1 | c.193A>C (p.Thr65Pro) c.191A>C c.170A>C | dbSNP |
| 17 | g.73193262A>G | CA400879694 | COG1 | c.193A>G (p.Thr65Ala) c.191A>G c.170A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193262A>T | CA400879693 | COG1 | c.193A>T (p.Thr65Ser) c.191A>T c.170A>T | dbSNP |
| 17 | g.73193263C>A | CA400879698 | COG1 | c.194C>A (p.Thr65Asn) c.192C>A c.171C>A | gnomAD v4 |
| 17 | g.73193263C= | CA2274430355 | COG1 | c.194C= (p.Thr65=) c.192C= c.171C= | |
| 17 | g.73193263C>G | CA400879702 | COG1 | c.194C>G (p.Thr65Ser) c.192C>G c.171C>G | dbSNP gnomAD v4 |
| 17 | g.73193263C>T | CA400879701 | COG1 | c.194C>T (p.Thr65Ile) c.192C>T c.171C>T | |
| 17 | g.73193264C>A | CA502026746 | COG1 | c.195C>A (p.Thr65=) c.193C>A c.172C>A | |
| 17 | g.73193264C>G | CA502026747 | COG1 | c.195C>G (p.Thr65=) c.193C>G c.172C>G | |
| 17 | g.73193264C>T | CA502026748 | COG1 | c.195C>T (p.Thr65=) c.193C>T c.172C>T | gnomAD v4 |
| 17 | g.73193265A>C | CA400879703 | COG1 | c.196A>C (p.Ile66Leu) c.194A>C c.173A>C | |
| 17 | g.73193265A>G | CA400879708 | COG1 | c.196A>G (p.Ile66Val) c.194A>G c.173A>G | |
| 17 | g.73193265A>T | CA400879706 | COG1 | c.196A>T (p.Ile66Phe) c.194A>T c.173A>T | |
| 17 | g.73193266T>A | CA400879713 | COG1 | c.197T>A (p.Ile66Asn) c.195T>A c.174T>A | |
| 17 | g.73193266T>C | CA400879717 | COG1 | c.197T>C (p.Ile66Thr) c.195T>C c.174T>C | gnomAD v4 |
| 17 | g.73193266T>G | CA400879719 | COG1 | c.197T>G (p.Ile66Ser) c.195T>G c.174T>G | |
| 17 | g.73193267C>A | CA502026750 | COG1 | c.198C>A (p.Ile66=) c.196C>A c.175C>A | gnomAD v4 |
| 17 | g.73193267C= | CA2274430356 | COG1 | c.198C= (p.Ile66=) c.196C= c.175C= | |
| 17 | g.73193267C>G | CA400879726 | COG1 | c.198C>G (p.Ile66Met) c.196C>G c.175C>G | dbSNP gnomAD v2 |
| 17 | g.73193267C>T | CA502026749 | COG1 | c.198C>T (p.Ile66=) c.196C>T c.175C>T | dbSNP gnomAD v4 |
| 17 | g.73193268G>A | CA400879739 | COG1 | c.199G>A (p.Gly67Ser) c.197G>A c.176G>A | |
| 17 | g.73193268G>C | CA400879741 | COG1 | c.199G>C (p.Gly67Arg) c.197G>C c.176G>C | gnomAD v4 |
| 17 | g.73193268G= | CA2274430357 | COG1 | c.199G= (p.Gly67=) c.197G= c.176G= | |
| 17 | g.73193268G>T | CA400879757 | COG1 | c.199G>T (p.Gly67Cys) c.197G>T c.176G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193269G>A | CA400879760 | COG1 | c.200G>A (p.Gly67Asp) c.198G>A c.177G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193269G>C | CA400879769 | COG1 | c.200G>C (p.Gly67Ala) c.198G>C c.177G>C | dbSNP gnomAD v4 |
| 17 | g.73193269G= | CA2274430358 | COG1 | c.200G= (p.Gly67=) c.198G= c.177G= | |
| 17 | g.73193269G>T | CA10646675 | COG1 | c.200G>T (p.Gly67Val) c.198G>T c.177G>T | ClinVar dbSNP |
| 17 | g.73193270C>A | CA502026751 | COG1 | c.201C>A (p.Gly67=) c.199C>A c.178C>A | |
| 17 | g.73193270C>G | CA502026752 | COG1 | c.201C>G (p.Gly67=) c.199C>G c.178C>G | |
| 17 | g.73193270C>T | CA502026753 | COG1 | c.201C>T (p.Gly67=) c.199C>T c.178C>T | |
| 17 | g.73193271C>A | CA400879794 | COG1 | c.202C>A (p.Gln68Lys) c.200C>A c.179C>A | |
| 17 | g.73193271C>G | CA400879793 | COG1 | c.202C>G (p.Gln68Glu) c.200C>G c.179C>G | |
| 17 | g.73193271C>T | CA400879792 | COG1 | c.202C>T (p.Gln68Ter) c.200C>T c.179C>T | |
| 17 | g.73193272A>C | CA400879795 | COG1 | c.203A>C (p.Gln68Pro) c.201A>C c.180A>C | |
| 17 | g.73193272A>G | CA400879798 | COG1 | c.203A>G (p.Gln68Arg) c.201A>G c.180A>G | |
| 17 | g.73193272A>T | CA400879800 | COG1 | c.203A>T (p.Gln68Leu) c.201A>T c.180A>T | |
| 17 | g.73193273G>A | CA502026754 | COG1 | c.204G>A (p.Gln68=) c.202G>A c.181G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193273G>C | CA400879804 | COG1 | c.204G>C (p.Gln68His) c.202G>C c.181G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193273G= | CA2274430359 | COG1 | c.204G= (p.Gln68=) c.202G= c.181G= | |
| 17 | g.73193273G>T | CA400879806 | COG1 | c.204G>T (p.Gln68His) c.202G>T c.181G>T | |
| 17 | g.73193274A= | CA2274430360 | COG1 | c.205A= (p.Met69=) c.203A= c.182A= | |
| 17 | g.73193274A>C | CA8739903 | COG1 | c.205A>C (p.Met69Leu) c.203A>C c.182A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193274A>G | CA400879812 | COG1 | c.205A>G (p.Met69Val) c.203A>G c.182A>G | |
| 17 | g.73193274A>T | CA400879815 | COG1 | c.205A>T (p.Met69Leu) c.203A>T c.182A>T | |
| 17 | g.73193275T>A | CA400879818 | COG1 | c.206T>A (p.Met69Lys) c.204T>A c.183T>A | |
| 17 | g.73193275T>C | CA400879822 | COG1 | c.206T>C (p.Met69Thr) c.204T>C c.183T>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193275T>G | CA400879825 | COG1 | c.206T>G (p.Met69Arg) c.204T>G c.183T>G | |
| 17 | g.73193275T= | CA2274430361 | COG1 | c.206T= (p.Met69=) c.204T= c.183T= | |
| 17 | g.73193276G>A | CA400879827 | COG1 | c.207G>A (p.Met69Ile) c.205G>A c.184G>A | |
| 17 | g.73193276G>C | CA400879829 | COG1 | c.207G>C (p.Met69Ile) c.205G>C c.184G>C | gnomAD v4 |
| 17 | g.73193276G>T | CA400879826 | COG1 | c.207G>T (p.Met69Ile) c.205G>T c.184G>T | gnomAD v4 |
| 17 | g.73193277C>A | CA400879834 | COG1 | c.208C>A (p.Arg70Ser) c.206C>A c.185C>A | |
| 17 | g.73193277C>G | CA400879838 | COG1 | c.208C>G (p.Arg70Gly) c.206C>G c.185C>G | |
| 17 | g.73193277C>T | CA400879842 | COG1 | c.208C>T (p.Arg70Cys) c.206C>T c.185C>T | gnomAD v4 |
| 17 | g.73193278G>A | CA400879851 | COG1 | c.209G>A (p.Arg70His) c.207G>A c.186G>A | dbSNP gnomAD v4 |
| 17 | g.73193278G>C | CA400879854 | COG1 | c.209G>C (p.Arg70Pro) c.207G>C c.186G>C | |
| 17 | g.73193278G= | CA2274430362 | COG1 | c.209G= (p.Arg70=) c.207G= c.186G= | |
| 17 | g.73193278G>T | CA400879856 | COG1 | c.209G>T (p.Arg70Leu) c.207G>T c.186G>T | |
| 17 | g.73193279C>A | CA502026755 | COG1 | c.210C>A (p.Arg70=) c.208C>A c.187C>A | |
| 17 | g.73193279C= | CA2274430363 | COG1 | c.210C= (p.Arg70=) c.208C= c.187C= | |
| 17 | g.73193279C>G | CA8739904 | COG1 | c.210C>G (p.Arg70=) c.208C>G c.187C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73193279C>T | CA502026756 | COG1 | c.210C>T (p.Arg70=) c.208C>T c.187C>T | gnomAD v4 |
| 17 | g.73193280C>A | CA400879864 | COG1 | c.211C>A (p.Arg71Ser) c.209C>A c.188C>A | dbSNP |
| 17 | g.73193280C= | CA2274430364 | COG1 | c.211C= (p.Arg71=) c.209C= c.188C= | |
| 17 | g.73193280C>G | CA400879868 | COG1 | c.211C>G (p.Arg71Gly) c.209C>G c.188C>G | gnomAD v4 |
| 17 | g.73193280C>T | CA400879870 | COG1 | c.211C>T (p.Arg71Cys) c.209C>T c.188C>T | |
| 17 | g.73193281G>A | CA293797074 | COG1 | c.212G>A (p.Arg71His) c.210G>A c.189G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193281G>C | CA400879874 | COG1 | c.212G>C (p.Arg71Pro) c.210G>C c.189G>C | |
| 17 | g.73193281G= | CA2274430365 | COG1 | c.212G= (p.Arg71=) c.210G= c.189G= | |
| 17 | g.73193281G>T | CA400879875 | COG1 | c.212G>T (p.Arg71Leu) c.210G>T c.189G>T | gnomAD v4 |
| 17 | g.73193282C>A | CA502026757 | COG1 | c.213C>A (p.Arg71=) c.211C>A c.190C>A | gnomAD v4 |
| 17 | g.73193282C= | CA2274430366 | COG1 | c.213C= (p.Arg71=) c.211C= c.190C= | |
| 17 | g.73193282C>G | CA502026758 | COG1 | c.213C>G (p.Arg71=) c.211C>G c.190C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193282C>T | CA502026759 | COG1 | c.213C>T (p.Arg71=) c.211C>T c.190C>T | |
| 17 | g.73193283T>A | CA400879876 | COG1 | c.214T>A (p.Cys72Ser) c.212T>A c.191T>A | |
| 17 | g.73193283T>C | CA400879880 | COG1 | c.214T>C (p.Cys72Arg) c.212T>C c.191T>C | |
| 17 | g.73193283T>G | CA400879877 | COG1 | c.214T>G (p.Cys72Gly) c.212T>G c.191T>G | |
| 17 | g.73193284G>A | CA400879887 | COG1 | c.215G>A (p.Cys72Tyr) c.213G>A c.192G>A | dbSNP gnomAD v4 |
| 17 | g.73193284G>C | CA400879888 | COG1 | c.215G>C (p.Cys72Ser) c.213G>C c.192G>C | |
| 17 | g.73193284G= | CA2274430367 | COG1 | c.215G= (p.Cys72=) c.213G= c.192G= | |
| 17 | g.73193284G>T | CA400879891 | COG1 | c.215G>T (p.Cys72Phe) c.213G>T c.192G>T | gnomAD v4 |
| 17 | g.73193285C>A | CA400879894 | COG1 | c.216C>A (p.Cys72Ter) c.214C>A c.193C>A | gnomAD v4 |
| 17 | g.73193285C= | CA2274430368 | COG1 | c.216C= (p.Cys72=) c.214C= c.193C= | |
| 17 | g.73193285C>G | CA400879897 | COG1 | c.216C>G (p.Cys72Trp) c.214C>G c.193C>G | |
| 17 | g.73193285C>T | CA8739905 | COG1 | c.216C>T (p.Cys72=) c.214C>T c.193C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193286G>A | CA400879904 | COG1 | c.217G>A (p.Ala73Thr) c.215G>A c.194G>A | dbSNP gnomAD v4 |
| 17 | g.73193286G>C | CA400879907 | COG1 | c.217G>C (p.Ala73Pro) c.215G>C c.194G>C | gnomAD v4 |
| 17 | g.73193286G>T | CA400879910 | COG1 | c.217G>T (p.Ala73Ser) c.215G>T c.194G>T | gnomAD v4 |
| 17 | g.73193287C>A | CA400879917 | COG1 | c.218C>A (p.Ala73Asp) c.216C>A c.195C>A | ClinVar gnomAD v4 |
| 17 | g.73193287C>G | CA400879929 | COG1 | c.218C>G (p.Ala73Gly) c.216C>G c.195C>G | |
| 17 | g.73193287C>T | CA400879933 | COG1 | c.218C>T (p.Ala73Val) c.216C>T c.195C>T | |
| 17 | g.73193288C>A | CA502026760 | COG1 | c.219C>A (p.Ala73=) c.217C>A c.196C>A | |
| 17 | g.73193288C= | CA2274430369 | COG1 | c.219C= (p.Ala73=) c.217C= c.196C= | |
| 17 | g.73193288C>G | CA8739906 | COG1 | c.219C>G (p.Ala73=) c.217C>G c.196C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73193288C>T | CA502026761 | COG1 | c.219C>T (p.Ala73=) c.217C>T c.196C>T | gnomAD v4 |
| 17 | g.73193289G>A | CA400879942 | COG1 | c.220G>A (p.Val74Met) c.218G>A c.197G>A | gnomAD v4 |
| 17 | g.73193289G>C | CA293797101 | COG1 | c.220G>C (p.Val74Leu) c.218G>C c.197G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193289G= | CA2274430370 | COG1 | c.220G= (p.Val74=) c.218G= c.197G= | |
| 17 | g.73193289G>T | CA293797104 | COG1 | c.220G>T (p.Val74Leu) c.218G>T c.197G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193290T>A | CA400879950 | COG1 | c.221T>A (p.Val74Glu) c.219T>A c.198T>A | |
| 17 | g.73193290T>C | CA400879954 | COG1 | c.221T>C (p.Val74Ala) c.219T>C c.198T>C | gnomAD v4 |
| 17 | g.73193290T>G | CA400879960 | COG1 | c.221T>G (p.Val74Gly) c.219T>G c.198T>G | |
| 17 | g.73193290T= | CA2274430371 | COG1 | c.221T= (p.Val74=) c.219T= c.198T= | |
| 17 | g.73193291G>A | CA502026762 | COG1 | c.222G>A (p.Val74=) c.220G>A c.199G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193291G>C | CA502026763 | COG1 | c.222G>C (p.Val74=) c.220G>C c.199G>C | |
| 17 | g.73193291G= | CA2274430372 | COG1 | c.222G= (p.Val74=) c.220G= c.199G= | |
| 17 | g.73193291G>T | CA502026764 | COG1 | c.222G>T (p.Val74=) c.220G>T c.199G>T | gnomAD v4 |
| 17 | g.73193294dup | CA913013655 | COG1 | c.225dup (p.Leu76AlafsTer?) c.223dup c.202dup | dbSNP |
| 17 | g.73193292G>A | CA8739907 | COG1 | c.223G>A (p.Gly75Arg) c.221G>A c.200G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73193292G>C | CA400879975 | COG1 | c.223G>C (p.Gly75Arg) c.221G>C c.200G>C | |
| 17 | g.73193292G= | CA2274430373 | COG1 | c.223G= (p.Gly75=) c.221G= c.200G= | |
| 17 | g.73193292G>T | CA400879980 | COG1 | c.223G>T (p.Gly75Trp) c.221G>T c.200G>T | |
| 17 | g.73193293G>A | CA8739909 | COG1 | c.224G>A (p.Gly75Glu) c.222G>A c.201G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193293G>C | CA8739910 | COG1 | c.224G>C (p.Gly75Ala) c.222G>C c.201G>C | dbSNP ExAC gnomAD v2 |
| 17 | g.73193293G= | CA2274430374 | COG1 | c.224G= (p.Gly75=) c.222G= c.201G= | |
| 17 | g.73193293G>T | CA400880017 | COG1 | c.224G>T (p.Gly75Val) c.222G>T c.201G>T | gnomAD v4 |
| 17 | g.73193293_73193295dup | CA8739908 | COG1 | c.224_226dup (p.Gly75_Leu76insArg) c.222_224dup c.201_203dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73193294G>A | CA502026767 | COG1 | c.225G>A (p.Gly75=) c.223G>A c.202G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193294G>C | CA502026766 | COG1 | c.225G>C (p.Gly75=) c.223G>C c.202G>C | gnomAD v4 |
| 17 | g.73193294G= | CA2274430375 | COG1 | c.225G= (p.Gly75=) c.223G= c.202G= | |
| 17 | g.73193294G>T | CA502026765 | COG1 | c.225G>T (p.Gly75=) c.223G>T c.202G>T | gnomAD v4 |
| 17 | g.73193295C>A | CA400880022 | COG1 | c.226C>A (p.Leu76Ile) c.224C>A c.203C>A | gnomAD v4 |
| 17 | g.73193295C>G | CA400880027 | COG1 | c.226C>G (p.Leu76Val) c.224C>G c.203C>G | |
| 17 | g.73193295C>T | CA502026768 | COG1 | c.226C>T (p.Leu76=) c.224C>T c.203C>T | |
| 17 | g.73193296T>A | CA400880061 | COG1 | c.227T>A (p.Leu76Gln) c.225T>A c.204T>A | |
| 17 | g.73193296T>C | CA400880034 | COG1 | c.227T>C (p.Leu76Pro) c.225T>C c.204T>C | |
| 17 | g.73193296T>G | CA400880047 | COG1 | c.227T>G (p.Leu76Arg) c.225T>G c.204T>G | |
| 17 | g.73193297A>C | CA502026771 | COG1 | c.228A>C (p.Leu76=) c.226A>C c.205A>C | |
| 17 | g.73193297A>G | CA502026770 | COG1 | c.228A>G (p.Leu76=) c.226A>G c.205A>G | gnomAD v4 |
| 17 | g.73193297A>T | CA502026769 | COG1 | c.228A>T (p.Leu76=) c.226A>T c.205A>T | |
| 17 | g.73193298G>A | CA400880068 | COG1 | c.229G>A (p.Val77Met) c.227G>A c.206G>A | |
| 17 | g.73193298G>C | CA400880072 | COG1 | c.229G>C (p.Val77Leu) c.227G>C c.206G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193298G= | CA2274430376 | COG1 | c.229G= (p.Val77=) c.227G= c.206G= | |
| 17 | g.73193298G>T | CA400880075 | COG1 | c.229G>T (p.Val77Leu) c.227G>T c.206G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193299T>A | CA400880088 | COG1 | c.230T>A (p.Val77Glu) c.228T>A c.207T>A | |
| 17 | g.73193299T>C | CA400880089 | COG1 | c.230T>C (p.Val77Ala) c.228T>C c.207T>C | |
| 17 | g.73193299T>G | CA400880090 | COG1 | c.230T>G (p.Val77Gly) c.228T>G c.207T>G | |
| 17 | g.73193300G>A | CA502026772 | COG1 | c.231G>A (p.Val77=) c.229G>A c.208G>A | |
| 17 | g.73193300G>C | CA502026773 | COG1 | c.231G>C (p.Val77=) c.229G>C c.208G>C | |
| 17 | g.73193300G>T | CA502026774 | COG1 | c.231G>T (p.Val77=) c.229G>T c.208G>T | gnomAD v4 |
| 17 | g.73193301G>A | CA400880095 | COG1 | c.232G>A (p.Asp78Asn) c.230G>A c.209G>A | gnomAD v4 |
| 17 | g.73193301G>C | CA400880109 | COG1 | c.232G>C (p.Asp78His) c.230G>C c.209G>C | COSMIC |
| 17 | g.73193301G>T | CA400880111 | COG1 | c.232G>T (p.Asp78Tyr) c.230G>T c.209G>T | |
| 17 | g.73193302A>C | CA400880116 | COG1 | c.233A>C (p.Asp78Ala) c.231A>C c.210A>C | |
| 17 | g.73193302A>G | CA400880126 | COG1 | c.233A>G (p.Asp78Gly) c.231A>G c.210A>G | |
| 17 | g.73193302A>T | CA400880129 | COG1 | c.233A>T (p.Asp78Val) c.231A>T c.210A>T | gnomAD v4 |
| 17 | g.73193303C>A | CA400880139 | COG1 | c.234C>A (p.Asp78Glu) c.232C>A c.211C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193303C= | CA2274430377 | COG1 | c.234C= (p.Asp78=) c.232C= c.211C= | |
| 17 | g.73193303C>G | CA400880134 | COG1 | c.234C>G (p.Asp78Glu) c.232C>G c.211C>G | |
| 17 | g.73193303C>T | CA502026775 | COG1 | c.234C>T (p.Asp78=) c.232C>T c.211C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193304G>A | CA400880145 | COG1 | c.235G>A (p.Ala79Thr) c.233G>A c.212G>A | gnomAD v4 |
| 17 | g.73193304G>C | CA400880153 | COG1 | c.235G>C (p.Ala79Pro) c.233G>C c.212G>C | |
| 17 | g.73193304G= | CA2274430378 | COG1 | c.235G= (p.Ala79=) c.233G= c.212G= | |
| 17 | g.73193304G>T | CA400880166 | COG1 | c.235G>T (p.Ala79Ser) c.233G>T c.212G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193305C>A | CA400880173 | COG1 | c.236C>A (p.Ala79Asp) c.234C>A c.213C>A | gnomAD v4 |
| 17 | g.73193305C= | CA2274430379 | COG1 | c.236C= (p.Ala79=) c.234C= c.213C= | |
| 17 | g.73193305C>G | CA400880178 | COG1 | c.236C>G (p.Ala79Gly) c.234C>G c.213C>G | |
| 17 | g.73193305C>T | CA400880203 | COG1 | c.236C>T (p.Ala79Val) c.234C>T c.213C>T | dbSNP |
| 17 | g.73193306C>A | CA502026776 | COG1 | c.237C>A (p.Ala79=) c.235C>A c.214C>A | gnomAD v4 |
| 17 | g.73193306C= | CA2274430380 | COG1 | c.237C= (p.Ala79=) c.235C= c.214C= | |
| 17 | g.73193306C>G | CA502026777 | COG1 | c.237C>G (p.Ala79=) c.235C>G c.214C>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193306C>T | CA293797135 | COG1 | c.237C>T (p.Ala79=) c.235C>T c.214C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193307G>A | CA400880209 | COG1 | c.238G>A (p.Val80Met) c.236G>A c.215G>A | gnomAD v4 |
| 17 | g.73193307G>C | CA400880219 | COG1 | c.238G>C (p.Val80Leu) c.236G>C c.215G>C | |
| 17 | g.73193307G>T | CA400880222 | COG1 | c.238G>T (p.Val80Leu) c.236G>T c.215G>T | |
| 17 | g.73193308T>A | CA400880236 | COG1 | c.239T>A (p.Val80Glu) c.237T>A c.216T>A | |
| 17 | g.73193308T>C | CA400880240 | COG1 | c.239T>C (p.Val80Ala) c.237T>C c.216T>C | gnomAD v4 |
| 17 | g.73193308T>G | CA400880249 | COG1 | c.239T>G (p.Val80Gly) c.237T>G c.216T>G | |
| 17 | g.73193309G>A | CA501714126 | COG1 | c.240G>A (p.Val80=) c.238G>A c.217G>A | gnomAD v4 |
| 17 | g.73193309G>C | CA501714128 | COG1 | c.240G>C (p.Val80=) c.238G>C c.217G>C | |
| 17 | g.73193309G>T | CA501714129 | COG1 | c.240G>T (p.Val80=) c.238G>T c.217G>T | gnomAD v4 |
| 17 | g.73193310A>C | CA400880257 | COG1 | c.241A>C (p.Lys81Gln) c.239A>C c.218A>C | |
| 17 | g.73193310A>G | CA400880260 | COG1 | c.241A>G (p.Lys81Glu) c.239A>G c.218A>G | |
| 17 | g.73193310A>T | CA400880254 | COG1 | c.241A>T (p.Lys81Ter) c.239A>T c.218A>T | |
| 17 | g.73193311del | CA2639622242 | COG1 | c.242del (p.Lys81ArgfsTer?) c.240del c.219del | gnomAD v4 |
| 17 | g.73193311A>C | CA400880265 | COG1 | c.242A>C (p.Lys81Thr) c.240A>C c.219A>C | |
| 17 | g.73193311A>G | CA400880266 | COG1 | c.242A>G (p.Lys81Arg) c.240A>G c.219A>G | |
| 17 | g.73193311A>T | CA400880267 | COG1 | c.242A>T (p.Lys81Met) c.240A>T c.219A>T | gnomAD v4 |
| 17 | g.73193312G>A | CA501714135 | COG1 | c.243G>A (p.Lys81=) c.241G>A c.220G>A | |
| 17 | g.73193312G>C | CA400880271 | COG1 | c.243G>C (p.Lys81Asn) c.241G>C c.220G>C | |
| 17 | g.73193312G>T | CA400880275 | COG1 | c.243G>T (p.Lys81Asn) c.241G>T c.220G>T | gnomAD v4 |
| 17 | g.73193312_73193313delinsAA | CA645598862 | COG1 | c.243_244delinsAA (p.Ala82Thr) c.241_242delinsAA c.220_221delinsAA | COSMIC |
| 17 | g.73193313G>A | CA400880302 | COG1 | c.244G>A (p.Ala82Thr) c.242G>A c.221G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.73193313G>C | CA400880293 | COG1 | c.244G>C (p.Ala82Pro) c.242G>C c.221G>C | |
| 17 | g.73193313G= | CA2274430381 | COG1 | c.244G= (p.Ala82=) c.242G= c.221G= | |
| 17 | g.73193313G>T | CA400880297 | COG1 | c.244G>T (p.Ala82Ser) c.242G>T c.221G>T | gnomAD v4 |
| 17 | g.73193314C>A | CA400880306 | COG1 | c.245C>A (p.Ala82Asp) c.243C>A c.222C>A | gnomAD v4 |
| 17 | g.73193314C>G | CA400880307 | COG1 | c.245C>G (p.Ala82Gly) c.243C>G c.222C>G | |
| 17 | g.73193314C>T | CA400880308 | COG1 | c.245C>T (p.Ala82Val) c.243C>T c.222C>T | gnomAD v4 |
| 17 | g.73193315C>A | CA501714151 | COG1 | c.246C>A (p.Ala82=) c.244C>A c.223C>A | gnomAD v4 |
| 17 | g.73193315C= | CA2274430382 | COG1 | c.246C= (p.Ala82=) c.244C= c.223C= | |
| 17 | g.73193315C>G | CA501714153 | COG1 | c.246C>G (p.Ala82=) c.244C>G c.223C>G | |
| 17 | g.73193315C>T | CA501714154 | COG1 | c.246C>T (p.Ala82=) c.244C>T c.223C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193316A>C | CA400880309 | COG1 | c.247A>C (p.Thr83Pro) c.245A>C c.224A>C | dbSNP gnomAD v4 |
| 17 | g.73193316A>G | CA400880313 | COG1 | c.247A>G (p.Thr83Ala) c.245A>G c.224A>G | gnomAD v4 |
| 17 | g.73193316A>T | CA400880316 | COG1 | c.247A>T (p.Thr83Ser) c.245A>T c.224A>T | |
| 17 | g.73193317C>A | CA400880319 | COG1 | c.248C>A (p.Thr83Asn) c.246C>A c.225C>A | |
| 17 | g.73193317C>G | CA400880322 | COG1 | c.248C>G (p.Thr83Ser) c.246C>G c.225C>G | |
| 17 | g.73193317C>T | CA400880317 | COG1 | c.248C>T (p.Thr83Ile) c.246C>T c.225C>T | |
| 17 | g.73193318C>A | CA8739911 | COG1 | c.249C>A (p.Thr83=) c.247C>A c.226C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193318C= | CA2274430383 | COG1 | c.249C= (p.Thr83=) c.247C= c.226C= | |
| 17 | g.73193318C>G | CA501714167 | COG1 | c.249C>G (p.Thr83=) c.247C>G c.226C>G | gnomAD v4 |
| 17 | g.73193318C>T | CA501714165 | COG1 | c.249C>T (p.Thr83=) c.247C>T c.226C>T | gnomAD v4 |
| 17 | g.73193319G>A | CA400880327 | COG1 | c.250G>A (p.Asp84Asn) c.248G>A c.227G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193319G>C | CA400880334 | COG1 | c.250G>C (p.Asp84His) c.248G>C c.227G>C | |
| 17 | g.73193319G= | CA2274430384 | COG1 | c.250G= (p.Asp84=) c.248G= c.227G= | |
| 17 | g.73193319G>T | CA400880330 | COG1 | c.250G>T (p.Asp84Tyr) c.248G>T c.227G>T | |
| 17 | g.73193320A= | CA2274430385 | COG1 | c.251A= (p.Asp84=) c.249A= c.228A= | |
| 17 | g.73193320A>C | CA293797157 | COG1 | c.251A>C (p.Asp84Ala) c.249A>C c.228A>C | dbSNP |
| 17 | g.73193320A>G | CA400880348 | COG1 | c.251A>G (p.Asp84Gly) c.249A>G c.228A>G | dbSNP |
| 17 | g.73193320A>T | CA400880336 | COG1 | c.251A>T (p.Asp84Val) c.249A>T c.228A>T | |
| 17 | g.73193321C>A | CA400880352 | COG1 | c.252C>A (p.Asp84Glu) c.250C>A c.229C>A | dbSNP gnomAD v4 |
| 17 | g.73193321C= | CA2274430386 | COG1 | c.252C= (p.Asp84=) c.250C= c.229C= | |
| 17 | g.73193321C>G | CA400880353 | COG1 | c.252C>G (p.Asp84Glu) c.250C>G c.229C>G | dbSNP gnomAD v4 |
| 17 | g.73193321C>T | CA293797158 | COG1 | c.252C>T (p.Asp84=) c.250C>T c.229C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.73193322C>A | CA400880354 | COG1 | c.253C>A (p.Gln85Lys) c.251C>A c.230C>A | gnomAD v4 |
| 17 | g.73193322C= | CA2274430387 | COG1 | c.253C= (p.Gln85=) c.251C= c.230C= | |
| 17 | g.73193322C>G | CA400880358 | COG1 | c.253C>G (p.Gln85Glu) c.251C>G c.230C>G | |
| 17 | g.73193322C>T | CA400880367 | COG1 | c.253C>T (p.Gln85Ter) c.251C>T c.230C>T | gnomAD v4 |
| 17 | g.73193323A>C | CA400880372 | COG1 | c.254A>C (p.Gln85Pro) c.252A>C c.231A>C | |
| 17 | g.73193323A>G | CA400880374 | COG1 | c.254A>G (p.Gln85Arg) c.252A>G c.231A>G | |
| 17 | g.73193323A>T | CA400880378 | COG1 | c.254A>T (p.Gln85Leu) c.252A>T c.231A>T | |
| 17 | g.73193323dup | CA2274430388 | COG1 | c.254dup (p.Tyr86ValfsTer?) c.252dup c.231dup | ClinVar dbSNP |
| 17 | g.73193324G>A | CA501714199 | COG1 | c.255G>A (p.Gln85=) c.253G>A c.232G>A | |
| 17 | g.73193324G>C | CA400880392 | COG1 | c.255G>C (p.Gln85His) c.253G>C c.232G>C | dbSNP |
| 17 | g.73193324G= | CA2274430389 | COG1 | c.255G= (p.Gln85=) c.253G= c.232G= | |
| 17 | g.73193324G>T | CA400880399 | COG1 | c.255G>T (p.Gln85His) c.253G>T c.232G>T | gnomAD v4 |
| 17 | g.73193325T>A | CA400880407 | COG1 | c.256T>A (p.Tyr86Asn) c.254T>A c.233T>A | |
| 17 | g.73193325T>C | CA400880405 | COG1 | c.256T>C (p.Tyr86His) c.254T>C c.233T>C | |
| 17 | g.73193325T>G | CA400880404 | COG1 | c.256T>G (p.Tyr86Asp) c.254T>G c.233T>G | |
| 17 | g.73193326A= | CA2274430390 | COG1 | c.257A= (p.Tyr86=) c.255A= c.234A= | |
| 17 | g.73193326A>C | CA400880411 | COG1 | c.257A>C (p.Tyr86Ser) c.255A>C c.234A>C | |
| 17 | g.73193326A>G | CA400880417 | COG1 | c.257A>G (p.Tyr86Cys) c.255A>G c.234A>G | dbSNP gnomAD v4 |
| 17 | g.73193326A>T | CA400880421 | COG1 | c.257A>T (p.Tyr86Phe) c.255A>T c.234A>T | |
| 17 | g.73193327C>A | CA400880427 | COG1 | c.258C>A (p.Tyr86Ter) c.256C>A c.235C>A | gnomAD v4 |
| 17 | g.73193327C= | CA2274430391 | COG1 | c.258C= (p.Tyr86=) c.256C= c.235C= | |
| 17 | g.73193327C>G | CA293797159 | COG1 | c.258C>G (p.Tyr86Ter) c.256C>G c.235C>G | dbSNP |
| 17 | g.73193327C>T | CA293797160 | COG1 | c.258C>T (p.Tyr86=) c.256C>T c.235C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193328T>A | CA400880449 | COG1 | c.259T>A (p.Cys87Ser) c.257T>A c.236T>A | |
| 17 | g.73193328T>C | CA400880457 | COG1 | c.259T>C (p.Cys87Arg) c.257T>C c.236T>C | gnomAD v4 |
| 17 | g.73193328T>G | CA400880461 | COG1 | c.259T>G (p.Cys87Gly) c.257T>G c.236T>G | |
| 17 | g.73193329G>A | CA400880470 | COG1 | c.260G>A (p.Cys87Tyr) c.258G>A c.237G>A | |
| 17 | g.73193329G>C | CA400880472 | COG1 | c.260G>C (p.Cys87Ser) c.258G>C c.237G>C | |
| 17 | g.73193329G>T | CA400880474 | COG1 | c.260G>T (p.Cys87Phe) c.258G>T c.237G>T | |
| 17 | g.73193330C>A | CA400880492 | COG1 | c.261C>A (p.Cys87Ter) c.259C>A c.238C>A | gnomAD v4 |
| 17 | g.73193330C= | CA2274430392 | COG1 | c.261C= (p.Cys87=) c.259C= c.238C= | |
| 17 | g.73193330C>G | CA400880486 | COG1 | c.261C>G (p.Cys87Trp) c.259C>G c.238C>G | |
| 17 | g.73193330C>T | CA501714233 | COG1 | c.261C>T (p.Cys87=) c.259C>T c.238C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73193331G>A | CA400880495 | COG1 | c.262G>A (p.Ala88Thr) c.260G>A c.239G>A | gnomAD v4 COSMIC |
| 17 | g.73193331G>C | CA400880496 | COG1 | c.262G>C (p.Ala88Pro) c.260G>C c.239G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193331G= | CA2274430393 | COG1 | c.262G= (p.Ala88=) c.260G= c.239G= | |
| 17 | g.73193331G>T | CA400880497 | COG1 | c.262G>T (p.Ala88Ser) c.260G>T c.239G>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193332C>A | CA400880498 | COG1 | c.263C>A (p.Ala88Asp) c.261C>A c.240C>A | gnomAD v4 |
| 17 | g.73193332C= | CA2274430394 | COG1 | c.263C= (p.Ala88=) c.261C= c.240C= | |
| 17 | g.73193332C>G | CA400880499 | COG1 | c.263C>G (p.Ala88Gly) c.261C>G c.240C>G | |
| 17 | g.73193332C>T | CA400880503 | COG1 | c.263C>T (p.Ala88Val) c.261C>T c.240C>T | dbSNP gnomAD v4 |
| 17 | g.73193333C>A | CA501714246 | COG1 | c.264C>A (p.Ala88=) c.262C>A c.241C>A | dbSNP gnomAD v4 |
| 17 | g.73193333C= | CA2274430395 | COG1 | c.264C= (p.Ala88=) c.262C= c.241C= | |
| 17 | g.73193333C>G | CA501714247 | COG1 | c.264C>G (p.Ala88=) c.262C>G c.241C>G | |
| 17 | g.73193333C>T | CA8739912 | COG1 | c.264C>T (p.Ala88=) c.262C>T c.241C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193334C>A | CA400880505 | COG1 | c.265C>A (p.Arg89Ser) c.263C>A c.242C>A | gnomAD v4 |
| 17 | g.73193334C= | CA2274430396 | COG1 | c.265C= (p.Arg89=) c.263C= c.242C= | |
| 17 | g.73193334C>G | CA400880511 | COG1 | c.265C>G (p.Arg89Gly) c.263C>G c.242C>G | |
| 17 | g.73193334C>T | CA8739913 | COG1 | c.265C>T (p.Arg89Cys) c.263C>T c.242C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73193335G>A | CA400880527 | COG1 | c.266G>A (p.Arg89His) c.264G>A c.243G>A | gnomAD v4 |
| 17 | g.73193335G>C | CA400880532 | COG1 | c.266G>C (p.Arg89Pro) c.264G>C c.243G>C | |
| 17 | g.73193335G>T | CA400880533 | COG1 | c.266G>T (p.Arg89Leu) c.264G>T c.243G>T | gnomAD v4 |
| 17 | g.73193336C>A | CA501714257 | COG1 | c.267C>A (p.Arg89=) c.265C>A c.244C>A | gnomAD v4 |
| 17 | g.73193336C= | CA2274430397 | COG1 | c.267C= (p.Arg89=) c.265C= c.244C= | |
| 17 | g.73193336C>G | CA501714258 | COG1 | c.267C>G (p.Arg89=) c.265C>G c.244C>G | |
| 17 | g.73193336C>T | CA501714265 | COG1 | c.267C>T (p.Arg89=) c.265C>T c.244C>T | dbSNP gnomAD v4 |
| 17 | g.73193337C>A | CA400880543 | COG1 | c.268C>A (p.Leu90Ile) c.266C>A c.245C>A | gnomAD v4 |
| 17 | g.73193337C>G | CA400880534 | COG1 | c.268C>G (p.Leu90Val) c.266C>G c.245C>G | |
| 17 | g.73193337C>T | CA400880537 | COG1 | c.268C>T (p.Leu90Phe) c.266C>T c.245C>T | gnomAD v4 |
| 17 | g.73193338T>A | CA400880554 | COG1 | c.269T>A (p.Leu90His) c.267T>A c.246T>A | |
| 17 | g.73193338T>C | CA400880556 | COG1 | c.269T>C (p.Leu90Pro) c.267T>C c.246T>C | gnomAD v4 |
| 17 | g.73193338T>G | CA400880557 | COG1 | c.269T>G (p.Leu90Arg) c.267T>G c.246T>G | |
| 17 | g.73193339C>A | CA501714277 | COG1 | c.270C>A (p.Leu90=) c.268C>A c.247C>A | gnomAD v4 |
| 17 | g.73193339C>G | CA501714276 | COG1 | c.270C>G (p.Leu90=) c.268C>G c.247C>G | |
| 17 | g.73193339C>T | CA501714275 | COG1 | c.270C>T (p.Leu90=) c.268C>T c.247C>T | gnomAD v4 |
| 17 | g.73193340C>A | CA400880558 | COG1 | c.271C>A (p.Arg91Ser) c.269C>A c.248C>A | gnomAD v4 |
| 17 | g.73193340C= | CA2274430398 | COG1 | c.271C= (p.Arg91=) c.269C= c.248C= | |
| 17 | g.73193340C>G | CA400880559 | COG1 | c.271C>G (p.Arg91Gly) c.269C>G c.248C>G | |
| 17 | g.73193340C>T | CA8739914 | COG1 | c.271C>T (p.Arg91Cys) c.269C>T c.248C>T | dbSNP ExAC gnomAD v2 |
| 17 | g.73193341G>A | CA400880565 | COG1 | c.272G>A (p.Arg91His) c.270G>A c.249G>A | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73193341G>C | CA400880571 | COG1 | c.272G>C (p.Arg91Pro) c.270G>C c.249G>C | dbSNP |
| 17 | g.73193341G= | CA2274430399 | COG1 | c.272G= (p.Arg91=) c.270G= c.249G= | |
| 17 | g.73193341G>T | CA293797178 | COG1 | c.272G>T (p.Arg91Leu) c.270G>T c.249G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |