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.73196646A= | CA2274431992 | COG1 | c.455A= (p.His152=) c.453A= c.452A= | |
| 17 | g.73196646A>C | CA400883424 | COG1 | c.455A>C (p.His152Pro) c.453A>C c.452A>C | dbSNP |
| 17 | g.73196646A>G | CA400883426 | COG1 | c.455A>G (p.His152Arg) c.453A>G c.452A>G | |
| 17 | g.73196646A>T | CA400883428 | COG1 | c.455A>T (p.His152Leu) c.453A>T c.452A>T | |
| 17 | g.73196646dup | CA774876263 | COG1 | c.455dup (p.His152GlnfsTer12) c.453dup c.452dup | dbSNP |
| 17 | g.73196647C>A | CA400883430 | COG1 | c.456C>A (p.His152Gln) c.454C>A c.453C>A | |
| 17 | g.73196647C>G | CA400883431 | COG1 | c.456C>G (p.His152Gln) c.454C>G c.453C>G | |
| 17 | g.73196647C>T | CA502026144 | COG1 | c.456C>T (p.His152=) c.454C>T c.453C>T | gnomAD v4 |
| 17 | g.73196648C>A | CA400883434 | COG1 | c.457C>A (p.Leu153Ile) c.455C>A c.454C>A | |
| 17 | g.73196648C= | CA2274431993 | COG1 | c.457C= (p.Leu153=) c.455C= c.454C= | |
| 17 | g.73196648C>G | CA400883436 | COG1 | c.457C>G (p.Leu153Val) c.455C>G c.454C>G | |
| 17 | g.73196648C>T | CA8739967 | COG1 | c.457C>T (p.Leu153Phe) c.455C>T c.454C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196649T>A | CA400883439 | COG1 | c.458T>A (p.Leu153His) c.456T>A c.455T>A | |
| 17 | g.73196649T>C | CA400883440 | COG1 | c.458T>C (p.Leu153Pro) c.456T>C c.455T>C | |
| 17 | g.73196649T>G | CA400883441 | COG1 | c.458T>G (p.Leu153Arg) c.456T>G c.455T>G | |
| 17 | g.73196650C>A | CA502026145 | COG1 | c.459C>A (p.Leu153=) c.457C>A c.456C>A | |
| 17 | g.73196650C>G | CA502026146 | COG1 | c.459C>G (p.Leu153=) c.457C>G c.456C>G | |
| 17 | g.73196650C>T | CA502026147 | COG1 | c.459C>T (p.Leu153=) c.457C>T c.456C>T | |
| 17 | g.73196650_73196652delinsCCA | CA2274431994 | COG1 | c.459_461delinsCCA (p.Leu153=) c.457_459delinsCCA c.456_458delinsCCA | |
| 17 | g.73196651C>A | CA400883442 | COG1 | c.460C>A (p.His154Asn) c.458C>A c.457C>A | |
| 17 | g.73196651C>G | CA400883443 | COG1 | c.460C>G (p.His154Asp) c.458C>G c.457C>G | |
| 17 | g.73196651C>T | CA400883444 | COG1 | c.460C>T (p.His154Tyr) c.458C>T c.457C>T | |
| 17 | g.73196653_73196654del | CA627590155 | COG1 | c.462_463del (p.His154GlnfsTer9) c.460_461del c.459_460del | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196652A>C | CA400883445 | COG1 | c.461A>C (p.His154Pro) c.459A>C c.458A>C | |
| 17 | g.73196652A>G | CA400883446 | COG1 | c.461A>G (p.His154Arg) c.459A>G c.458A>G | COSMIC |
| 17 | g.73196652A>T | CA400883448 | COG1 | c.461A>T (p.His154Leu) c.459A>T c.458A>T | gnomAD v4 |
| 17 | g.73196653C>A | CA8739968 | COG1 | c.462C>A (p.His154Gln) c.460C>A c.459C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196653C= | CA2274431995 | COG1 | c.462C= (p.His154=) c.460C= c.459C= | |
| 17 | g.73196653C>G | CA400883452 | COG1 | c.462C>G (p.His154Gln) c.460C>G c.459C>G | |
| 17 | g.73196653C>T | CA502026148 | COG1 | c.462C>T (p.His154=) c.460C>T c.459C>T | |
| 17 | g.73196654A>C | CA400883458 | COG1 | c.463A>C (p.Ser155Arg) c.461A>C c.460A>C | |
| 17 | g.73196654A>G | CA400883460 | COG1 | c.463A>G (p.Ser155Gly) c.461A>G c.460A>G | |
| 17 | g.73196654A>T | CA400883455 | COG1 | c.463A>T (p.Ser155Cys) c.461A>T c.460A>T | |
| 17 | g.73196655G>A | CA400883467 | COG1 | c.464G>A (p.Ser155Asn) c.462G>A c.461G>A | |
| 17 | g.73196655G>C | CA400883463 | COG1 | c.464G>C (p.Ser155Thr) c.462G>C c.461G>C | |
| 17 | g.73196655G>T | CA400883465 | COG1 | c.464G>T (p.Ser155Ile) c.462G>T c.461G>T | |
| 17 | g.73196656C>A | CA8739969 | COG1 | c.465C>A (p.Ser155Arg) c.463C>A c.462C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196656C= | CA2274431996 | COG1 | c.465C= (p.Ser155=) c.463C= c.462C= | |
| 17 | g.73196656C>G | CA400883471 | COG1 | c.465C>G (p.Ser155Arg) c.463C>G c.462C>G | |
| 17 | g.73196656C>T | CA502026149 | COG1 | c.465C>T (p.Ser155=) c.463C>T c.462C>T | |
| 17 | g.73196657C>A | CA400883474 | COG1 | c.466C>A (p.Leu156Met) c.464C>A c.463C>A | dbSNP |
| 17 | g.73196657C= | CA2274431997 | COG1 | c.466C= (p.Leu156=) c.464C= c.463C= | |
| 17 | g.73196657C>G | CA400883475 | COG1 | c.466C>G (p.Leu156Val) c.464C>G c.463C>G | |
| 17 | g.73196657C>T | CA502026150 | COG1 | c.466C>T (p.Leu156=) c.464C>T c.463C>T | ClinVar dbSNP |
| 17 | g.73196658T>A | CA400883479 | COG1 | c.467T>A (p.Leu156Gln) c.465T>A c.464T>A | |
| 17 | g.73196658T>C | CA400883481 | COG1 | c.467T>C (p.Leu156Pro) c.465T>C c.464T>C | |
| 17 | g.73196658T>G | CA400883483 | COG1 | c.467T>G (p.Leu156Arg) c.465T>G c.464T>G | |
| 17 | g.73196659G>A | CA502026151 | COG1 | c.468G>A (p.Leu156=) c.466G>A c.465G>A | dbSNP gnomAD v4 |
| 17 | g.73196659G>C | CA502026152 | COG1 | c.468G>C (p.Leu156=) c.466G>C c.465G>C | |
| 17 | g.73196659G= | CA2274431998 | COG1 | c.468G= (p.Leu156=) c.466G= c.465G= | |
| 17 | g.73196659G>T | CA502026153 | COG1 | c.468G>T (p.Leu156=) c.466G>T c.465G>T | |
| 17 | g.73196660C>A | CA400883486 | COG1 | c.469C>A (p.Leu157Ile) c.467C>A c.466C>A | |
| 17 | g.73196660C>G | CA400883488 | COG1 | c.469C>G (p.Leu157Val) c.467C>G c.466C>G | |
| 17 | g.73196660C>T | CA400883489 | COG1 | c.469C>T (p.Leu157Phe) c.467C>T c.466C>T | |
| 17 | g.73196661T>A | CA400883498 | COG1 | c.470T>A (p.Leu157His) c.468T>A c.467T>A | |
| 17 | g.73196661T>C | CA400883495 | COG1 | c.470T>C (p.Leu157Pro) c.468T>C c.467T>C | gnomAD v4 |
| 17 | g.73196661T>G | CA400883492 | COG1 | c.470T>G (p.Leu157Arg) c.468T>G c.467T>G | |
| 17 | g.73196662C>A | CA502026154 | COG1 | c.471C>A (p.Leu157=) c.469C>A c.468C>A | |
| 17 | g.73196662C>G | CA502026155 | COG1 | c.471C>G (p.Leu157=) c.469C>G c.468C>G | gnomAD v4 |
| 17 | g.73196662C>T | CA502026156 | COG1 | c.471C>T (p.Leu157=) c.469C>T c.468C>T | |
| 17 | g.73196663C>A | CA400883503 | COG1 | c.472C>A (p.Gln158Lys) c.470C>A c.469C>A | |
| 17 | g.73196663C= | CA2274431999 | COG1 | c.472C= (p.Gln158=) c.470C= c.469C= | |
| 17 | g.73196663C>G | CA400883508 | COG1 | c.472C>G (p.Gln158Glu) c.470C>G c.469C>G | |
| 17 | g.73196663C>T | CA400883509 | COG1 | c.472C>T (p.Gln158Ter) c.470C>T c.469C>T | |
| 17 | g.73196664A>C | CA400883512 | COG1 | c.473A>C (p.Gln158Pro) c.471A>C c.470A>C | |
| 17 | g.73196664A>G | CA400883515 | COG1 | c.473A>G (p.Gln158Arg) c.471A>G c.470A>G | |
| 17 | g.73196664A>T | CA400883518 | COG1 | c.473A>T (p.Gln158Leu) c.471A>T c.470A>T | |
| 17 | g.73196664dup | CA986116778 | COG1 | c.473dup (p.Leu159AlafsTer5) c.471dup c.470dup | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196665G>A | CA502026157 | COG1 | c.474G>A (p.Gln158=) c.472G>A c.471G>A | |
| 17 | g.73196665G>C | CA400883522 | COG1 | c.474G>C (p.Gln158His) c.472G>C c.471G>C | gnomAD v4 |
| 17 | g.73196665G>T | CA400883525 | COG1 | c.474G>T (p.Gln158His) c.472G>T c.471G>T | |
| 17 | g.73196666C>A | CA400883526 | COG1 | c.475C>A (p.Leu159Met) c.473C>A c.472C>A | |
| 17 | g.73196666C= | CA2274432000 | COG1 | c.475C= (p.Leu159=) c.473C= c.472C= | |
| 17 | g.73196666C>G | CA400883528 | COG1 | c.475C>G (p.Leu159Val) c.473C>G c.472C>G | dbSNP |
| 17 | g.73196666C>T | CA502026161 | COG1 | c.475C>T (p.Leu159=) c.473C>T c.472C>T | |
| 17 | g.73196667T>A | CA400883542 | COG1 | c.476T>A (p.Leu159Gln) c.474T>A c.473T>A | |
| 17 | g.73196667T>C | CA400883545 | COG1 | c.476T>C (p.Leu159Pro) c.474T>C c.473T>C | gnomAD v4 |
| 17 | g.73196667T>G | CA400883549 | COG1 | c.476T>G (p.Leu159Arg) c.474T>G c.473T>G | |
| 17 | g.73196668G>A | CA502026162 | COG1 | c.477G>A (p.Leu159=) c.475G>A c.474G>A | gnomAD v4 |
| 17 | g.73196668G>C | CA502026164 | COG1 | c.477G>C (p.Leu159=) c.475G>C c.474G>C | |
| 17 | g.73196668G>T | CA502026163 | COG1 | c.477G>T (p.Leu159=) c.475G>T c.474G>T | |
| 17 | g.73196669G>A | CA400883556 | COG1 | c.478G>A (p.Asp160Asn) c.476G>A c.475G>A | |
| 17 | g.73196669G>C | CA400883562 | COG1 | c.478G>C (p.Asp160His) c.476G>C c.475G>C | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196669G= | CA2274432001 | COG1 | c.478G= (p.Asp160=) c.476G= c.475G= | |
| 17 | g.73196669G>T | CA400883554 | COG1 | c.478G>T (p.Asp160Tyr) c.476G>T c.475G>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196670A= | CA2274432002 | COG1 | c.479A= (p.Asp160=) c.477A= c.476A= | |
| 17 | g.73196670A>C | CA400883567 | COG1 | c.479A>C (p.Asp160Ala) c.477A>C c.476A>C | dbSNP gnomAD v4 |
| 17 | g.73196670A>G | CA400883570 | COG1 | c.479A>G (p.Asp160Gly) c.477A>G c.476A>G | |
| 17 | g.73196670A>T | CA400883573 | COG1 | c.479A>T (p.Asp160Val) c.477A>T c.476A>T | |
| 17 | g.73196671T>A | CA400883577 | COG1 | c.480T>A (p.Asp160Glu) c.478T>A c.477T>A | |
| 17 | g.73196671T>C | CA502026166 | COG1 | c.480T>C (p.Asp160=) c.478T>C c.477T>C | |
| 17 | g.73196671T>G | CA400883580 | COG1 | c.480T>G (p.Asp160Glu) c.478T>G c.477T>G | |
| 17 | g.73196672del | CA2734170128 | COG1 | c.481del (p.Ser161LeufsTer?) c.479del c.478del | dbSNP |
| 17 | g.73196672T>A | CA400883584 | COG1 | c.481T>A (p.Ser161Thr) c.479T>A c.478T>A | |
| 17 | g.73196672T>C | CA400883587 | COG1 | c.481T>C (p.Ser161Pro) c.479T>C c.478T>C | dbSNP |
| 17 | g.73196672T>G | CA400883596 | COG1 | c.481T>G (p.Ser161Ala) c.479T>G c.478T>G | |
| 17 | g.73196672T= | CA2274432003 | COG1 | c.481T= (p.Ser161=) c.479T= c.478T= | |
| 17 | g.73196673C>A | CA400883602 | COG1 | c.482C>A (p.Ser161Tyr) c.480C>A c.479C>A | |
| 17 | g.73196673C= | CA2274432004 | COG1 | c.482C= (p.Ser161=) c.480C= c.479C= | |
| 17 | g.73196673C>G | CA400883606 | COG1 | c.482C>G (p.Ser161Cys) c.480C>G c.479C>G | |
| 17 | g.73196673C>T | CA400883609 | COG1 | c.482C>T (p.Ser161Phe) c.480C>T c.479C>T | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196674T>A | CA502026168 | COG1 | c.483T>A (p.Ser161=) c.481T>A c.480T>A | |
| 17 | g.73196674T>C | CA502026169 | COG1 | c.483T>C (p.Ser161=) c.481T>C c.480T>C | |
| 17 | g.73196674T>G | CA502026170 | COG1 | c.483T>G (p.Ser161=) c.481T>G c.480T>G | |
| 17 | g.73196675T>A | CA400883613 | COG1 | c.484T>A (p.Ser162Thr) c.482T>A c.481T>A | |
| 17 | g.73196675T>C | CA8739970 | COG1 | c.484T>C (p.Ser162Pro) c.482T>C c.481T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196675T>G | CA400883619 | COG1 | c.484T>G (p.Ser162Ala) c.482T>G c.481T>G | |
| 17 | g.73196675T= | CA2274432005 | COG1 | c.484T= (p.Ser162=) c.482T= c.481T= | |
| 17 | g.73196676C>A | CA400883632 | COG1 | c.485C>A (p.Ser162Tyr) c.483C>A c.482C>A | |
| 17 | g.73196676C>G | CA400883628 | COG1 | c.485C>G (p.Ser162Cys) c.483C>G c.482C>G | |
| 17 | g.73196676C>T | CA400883625 | COG1 | c.485C>T (p.Ser162Phe) c.483C>T c.482C>T | |
| 17 | g.73196677T>A | CA502026173 | COG1 | c.486T>A (p.Ser162=) c.484T>A c.483T>A | |
| 17 | g.73196677T>C | CA502026174 | COG1 | c.486T>C (p.Ser162=) c.484T>C c.483T>C | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196677T>G | CA502026175 | COG1 | c.486T>G (p.Ser162=) c.484T>G c.483T>G | gnomAD v4 |
| 17 | g.73196677T= | CA2274432006 | COG1 | c.486T= (p.Ser162=) c.484T= c.483T= | |
| 17 | g.73196678A>C | CA400883635 | COG1 | c.487A>C (p.Ser163Arg) c.485A>C c.484A>C | |
| 17 | g.73196678A>G | CA400883638 | COG1 | c.487A>G (p.Ser163Gly) c.485A>G c.484A>G | |
| 17 | g.73196678A>T | CA400883640 | COG1 | c.487A>T (p.Ser163Cys) c.485A>T c.484A>T | |
| 17 | g.73196679G>A | CA400883645 | COG1 | c.488G>A (p.Ser163Asn) c.486G>A c.485G>A | gnomAD v4 |
| 17 | g.73196679G>C | CA400883648 | COG1 | c.488G>C (p.Ser163Thr) c.486G>C c.485G>C | |
| 17 | g.73196679G>T | CA400883651 | COG1 | c.488G>T (p.Ser163Ile) c.486G>T c.485G>T | |
| 17 | g.73196680T>A | CA400883655 | COG1 | c.489T>A (p.Ser163Arg) c.487T>A c.486T>A | |
| 17 | g.73196680T>C | CA502026179 | COG1 | c.489T>C (p.Ser163=) c.487T>C c.486T>C | gnomAD v4 |
| 17 | g.73196680T>G | CA400883659 | COG1 | c.489T>G (p.Ser163Arg) c.487T>G c.486T>G | |
| 17 | g.73196681T>A | CA400883663 | COG1 | c.490T>A (p.Ser164Thr) c.488T>A c.487T>A | |
| 17 | g.73196681T>C | CA400883664 | COG1 | c.490T>C (p.Ser164Pro) c.488T>C c.487T>C | |
| 17 | g.73196681T>G | CA400883666 | COG1 | c.490T>G (p.Ser164Ala) c.488T>G c.487T>G | |
| 17 | g.73196682C>A | CA400883670 | COG1 | c.491C>A (p.Ser164Tyr) c.489C>A c.488C>A | |
| 17 | g.73196682C>G | CA400883672 | COG1 | c.491C>G (p.Ser164Cys) c.489C>G c.488C>G | |
| 17 | g.73196682C>T | CA400883676 | COG1 | c.491C>T (p.Ser164Phe) c.489C>T c.488C>T | gnomAD v4 |
| 17 | g.73196683C>A | CA502026180 | COG1 | c.492C>A (p.Ser164=) c.490C>A c.489C>A | |
| 17 | g.73196683C>G | CA502026181 | COG1 | c.492C>G (p.Ser164=) c.490C>G c.489C>G | |
| 17 | g.73196683C>T | CA502026182 | COG1 | c.492C>T (p.Ser164=) c.490C>T c.489C>T | |
| 17 | g.73196684C>A | CA502026183 | COG1 | c.493C>A (p.Arg165=) c.491C>A c.490C>A | |
| 17 | g.73196684C= | CA2274432007 | COG1 | c.493C= (p.Arg165=) c.491C= c.490C= | |
| 17 | g.73196684C>G | CA400883679 | COG1 | c.493C>G (p.Arg165Gly) c.491C>G c.490C>G | gnomAD v4 |
| 17 | g.73196684C>T | CA400883682 | COG1 | c.493C>T (p.Arg165Ter) c.491C>T c.490C>T | dbSNP gnomAD v4 COSMIC |
| 17 | g.73196685G>A | CA8739971 | COG1 | c.494G>A (p.Arg165Gln) c.492G>A c.491G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196685G>C | CA400883698 | COG1 | c.494G>C (p.Arg165Pro) c.492G>C c.491G>C | |
| 17 | g.73196685G= | CA2274432008 | COG1 | c.494G= (p.Arg165=) c.492G= c.491G= | |
| 17 | g.73196685G>T | CA8739972 | COG1 | c.494G>T (p.Arg165Leu) c.492G>T c.491G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196686A>C | CA502026185 | COG1 | c.495A>C (p.Arg165=) c.493A>C c.492A>C | |
| 17 | g.73196686A>G | CA502026186 | COG1 | c.495A>G (p.Arg165=) c.493A>G c.492A>G | |
| 17 | g.73196686A>T | CA502026187 | COG1 | c.495A>T (p.Arg165=) c.493A>T c.492A>T | |
| 17 | g.73196687T>A | CA400883703 | COG1 | c.496T>A (p.Tyr166Asn) c.494T>A c.493T>A | |
| 17 | g.73196687T>C | CA400883710 | COG1 | c.496T>C (p.Tyr166His) c.494T>C c.493T>C | |
| 17 | g.73196687T>G | CA400883706 | COG1 | c.496T>G (p.Tyr166Asp) c.494T>G c.493T>G | |
| 17 | g.73196688A>C | CA400883714 | COG1 | c.497A>C (p.Tyr166Ser) c.495A>C c.494A>C | |
| 17 | g.73196688A>G | CA400883717 | COG1 | c.497A>G (p.Tyr166Cys) c.495A>G c.494A>G | |
| 17 | g.73196688A>T | CA400883719 | COG1 | c.497A>T (p.Tyr166Phe) c.495A>T c.494A>T | |
| 17 | g.73196689_73196690del | CA2576374990 | COG1 | c.498_499del (p.Tyr166Ter) c.496_497del c.495_496del | |
| 17 | g.73196689C>A | CA400883722 | COG1 | c.498C>A (p.Tyr166Ter) c.496C>A c.495C>A | |
| 17 | g.73196689C>G | CA400883724 | COG1 | c.498C>G (p.Tyr166Ter) c.496C>G c.495C>G | gnomAD v4 |
| 17 | g.73196689C>T | CA502026189 | COG1 | c.498C>T (p.Tyr166=) c.496C>T c.495C>T | |
| 17 | g.73196690del | CA2639623218 | COG1 | c.499del (p.Ser167ValfsTer?) c.497del c.496del | gnomAD v4 |
| 17 | g.73196690A= | CA2274432009 | COG1 | c.499A= (p.Ser167=) c.497A= c.496A= | |
| 17 | g.73196690A>C | CA400883735 | COG1 | c.499A>C (p.Ser167Arg) c.497A>C c.496A>C | |
| 17 | g.73196690A>G | CA400883736 | COG1 | c.499A>G (p.Ser167Gly) c.497A>G c.496A>G | gnomAD v4 |
| 17 | g.73196690A>T | CA8739973 | COG1 | c.499A>T (p.Ser167Cys) c.497A>T c.496A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196691G>A | CA400883741 | COG1 | c.500G>A (p.Ser167Asn) c.498G>A c.497G>A | |
| 17 | g.73196691G>C | CA400883746 | COG1 | c.500G>C (p.Ser167Thr) c.498G>C c.497G>C | |
| 17 | g.73196691G>T | CA400883749 | COG1 | c.500G>T (p.Ser167Ile) c.498G>T c.497G>T | |
| 17 | g.73196692T>A | CA400883750 | COG1 | c.501T>A (p.Ser167Arg) c.499T>A c.498T>A | |
| 17 | g.73196692T>C | CA502026190 | COG1 | c.501T>C (p.Ser167=) c.499T>C c.498T>C | |
| 17 | g.73196692T>G | CA400883753 | COG1 | c.501T>G (p.Ser167Arg) c.499T>G c.498T>G | |
| 17 | g.73196693C>A | CA400883761 | COG1 | c.502C>A (p.Pro168Thr) c.500C>A c.499C>A | gnomAD v4 |
| 17 | g.73196693C>G | CA400883758 | COG1 | c.502C>G (p.Pro168Ala) c.500C>G c.499C>G | |
| 17 | g.73196693C>T | CA400883755 | COG1 | c.502C>T (p.Pro168Ser) c.500C>T c.499C>T | |
| 17 | g.73196694C>A | CA400883769 | COG1 | c.503C>A (p.Pro168His) c.501C>A c.500C>A | |
| 17 | g.73196694C>G | CA400883778 | COG1 | c.503C>G (p.Pro168Arg) c.501C>G c.500C>G | |
| 17 | g.73196694C>T | CA400883780 | COG1 | c.503C>T (p.Pro168Leu) c.501C>T c.500C>T | |
| 17 | g.73196695C>A | CA502026192 | COG1 | c.504C>A (p.Pro168=) c.502C>A c.501C>A | |
| 17 | g.73196695C= | CA2274432010 | COG1 | c.504C= (p.Pro168=) c.502C= c.501C= | |
| 17 | g.73196695C>G | CA502026193 | COG1 | c.504C>G (p.Pro168=) c.502C>G c.501C>G | |
| 17 | g.73196695C>T | CA8739974 | COG1 | c.504C>T (p.Pro168=) c.502C>T c.501C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196696G>A | CA8739975 | COG1 | c.505G>A (p.Val169Ile) c.503G>A c.502G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196696G>C | CA400883787 | COG1 | c.505G>C (p.Val169Leu) c.503G>C c.502G>C | gnomAD v4 |
| 17 | g.73196696G= | CA2274432011 | COG1 | c.505G= (p.Val169=) c.503G= c.502G= | |
| 17 | g.73196696G>T | CA400883789 | COG1 | c.505G>T (p.Val169Phe) c.503G>T c.502G>T | |
| 17 | g.73196697T>A | CA400883791 | COG1 | c.506T>A (p.Val169Asp) c.504T>A c.503T>A | |
| 17 | g.73196697T>C | CA400883793 | COG1 | c.506T>C (p.Val169Ala) c.504T>C c.503T>C | gnomAD v4 |
| 17 | g.73196697T>G | CA400883796 | COG1 | c.506T>G (p.Val169Gly) c.504T>G c.503T>G | |
| 17 | g.73196698C>A | CA502026196 | COG1 | c.507C>A (p.Val169=) c.505C>A c.504C>A | gnomAD v4 |
| 17 | g.73196698C>G | CA502026197 | COG1 | c.507C>G (p.Val169=) c.505C>G c.504C>G | |
| 17 | g.73196698C>T | CA502026195 | COG1 | c.507C>T (p.Val169=) c.505C>T c.504C>T | |
| 17 | g.73196699C>A | CA400883807 | COG1 | c.508C>A (p.Leu170Ile) c.506C>A c.505C>A | gnomAD v4 |
| 17 | g.73196699C>G | CA400883810 | COG1 | c.508C>G (p.Leu170Val) c.506C>G c.505C>G | gnomAD v4 |
| 17 | g.73196699C>T | CA400883813 | COG1 | c.508C>T (p.Leu170Phe) c.506C>T c.505C>T | |
| 17 | g.73196700T>A | CA400883825 | COG1 | c.509T>A (p.Leu170His) c.507T>A c.506T>A | |
| 17 | g.73196700T>C | CA400883829 | COG1 | c.509T>C (p.Leu170Pro) c.507T>C c.506T>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.73196700T>G | CA400883823 | COG1 | c.509T>G (p.Leu170Arg) c.507T>G c.506T>G | |
| 17 | g.73196701C>A | CA502026200 | COG1 | c.510C>A (p.Leu170=) c.508C>A c.507C>A | |
| 17 | g.73196701C= | CA2274432012 | COG1 | c.510C= (p.Leu170=) c.508C= c.507C= | |
| 17 | g.73196701C>G | CA502026199 | COG1 | c.510C>G (p.Leu170=) c.508C>G c.507C>G | |
| 17 | g.73196701C>T | CA8739976 | COG1 | c.510C>T (p.Leu170=) c.508C>T c.507C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196702T>A | CA400883841 | COG1 | c.511T>A (p.Ser171Thr) c.509T>A c.508T>A | |
| 17 | g.73196702T>C | CA400883844 | COG1 | c.511T>C (p.Ser171Pro) c.509T>C c.508T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196702T>G | CA400883846 | COG1 | c.511T>G (p.Ser171Ala) c.509T>G c.508T>G | |
| 17 | g.73196702T= | CA2274432013 | COG1 | c.511T= (p.Ser171=) c.509T= c.508T= | |
| 17 | g.73196703C>A | CA400883851 | COG1 | c.512C>A (p.Ser171Tyr) c.510C>A c.509C>A | |
| 17 | g.73196703C= | CA2274432014 | COG1 | c.512C= (p.Ser171=) c.510C= c.509C= | |
| 17 | g.73196703C>G | CA400883852 | COG1 | c.512C>G (p.Ser171Cys) c.510C>G c.509C>G | |
| 17 | g.73196703C>T | CA400883855 | COG1 | c.512C>T (p.Ser171Phe) c.510C>T c.509C>T | dbSNP gnomAD v4 |
| 17 | g.73196705del | CA2639623254 | COG1 | c.514del (p.Arg172GlyfsTer?) c.512del c.511del | gnomAD v4 |
| 17 | g.73196704C>A | CA502026203 | COG1 | c.513C>A (p.Ser171=) c.511C>A c.510C>A | |
| 17 | g.73196704C= | CA2274432015 | COG1 | c.513C= (p.Ser171=) c.511C= c.510C= | |
| 17 | g.73196704C>G | CA502026201 | COG1 | c.513C>G (p.Ser171=) c.511C>G c.510C>G | dbSNP |
| 17 | g.73196704C>T | CA502026202 | COG1 | c.513C>T (p.Ser171=) c.511C>T c.510C>T | |
| 17 | g.73196705C>A | CA502026204 | COG1 | c.514C>A (p.Arg172=) c.512C>A c.511C>A | |
| 17 | g.73196705C= | CA2274432016 | COG1 | c.514C= (p.Arg172=) c.512C= c.511C= | |
| 17 | g.73196705C>G | CA400883858 | COG1 | c.514C>G (p.Arg172Gly) c.512C>G c.511C>G | gnomAD v4 |
| 17 | g.73196705C>T | CA8739977 | COG1 | c.514C>T (p.Arg172Trp) c.512C>T c.511C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.73196706G>A | CA8739978 | COG1 | c.515G>A (p.Arg172Gln) c.513G>A c.512G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196706G>C | CA400883868 | COG1 | c.515G>C (p.Arg172Pro) c.513G>C c.512G>C | |
| 17 | g.73196706G= | CA2274432017 | COG1 | c.515G= (p.Arg172=) c.513G= c.512G= | |
| 17 | g.73196706G>T | CA400883871 | COG1 | c.515G>T (p.Arg172Leu) c.513G>T c.512G>T | |
| 17 | g.73196706_73196710del | CA2639623273 | COG1 | c.515_519del (p.Arg172ProfsTer20) c.513_517del c.512_516del | gnomAD v4 |
| 17 | g.73196707G>A | CA502026208 | COG1 | c.516G>A (p.Arg172=) c.514G>A c.513G>A | |
| 17 | g.73196707G>C | CA502026209 | COG1 | c.516G>C (p.Arg172=) c.514G>C c.513G>C | |
| 17 | g.73196707G>T | CA502026210 | COG1 | c.516G>T (p.Arg172=) c.514G>T c.513G>T | |
| 17 | g.73196708T>A | CA400883884 | COG1 | c.517T>A (p.Phe173Ile) c.515T>A c.514T>A | |
| 17 | g.73196708T>C | CA400883878 | COG1 | c.517T>C (p.Phe173Leu) c.515T>C c.514T>C | |
| 17 | g.73196708T>G | CA400883881 | COG1 | c.517T>G (p.Phe173Val) c.515T>G c.514T>G | |
| 17 | g.73196709T>A | CA400883890 | COG1 | c.518T>A (p.Phe173Tyr) c.516T>A c.515T>A | |
| 17 | g.73196709T>C | CA400883892 | COG1 | c.518T>C (p.Phe173Ser) c.516T>C c.515T>C | |
| 17 | g.73196709T>G | CA400883896 | COG1 | c.518T>G (p.Phe173Cys) c.516T>G c.515T>G | |
| 17 | g.73196710T>A | CA400883899 | COG1 | c.519T>A (p.Phe173Leu) c.517T>A c.516T>A | |
| 17 | g.73196710T>C | CA502026214 | COG1 | c.519T>C (p.Phe173=) c.517T>C c.516T>C | |
| 17 | g.73196710T>G | CA400883900 | COG1 | c.519T>G (p.Phe173Leu) c.517T>G c.516T>G | |
| 17 | g.73196711C>A | CA400883901 | COG1 | c.520C>A (p.Pro174Thr) c.518C>A c.517C>A | |
| 17 | g.73196711C>G | CA400883904 | COG1 | c.520C>G (p.Pro174Ala) c.518C>G c.517C>G | |
| 17 | g.73196711C>T | CA400883907 | COG1 | c.520C>T (p.Pro174Ser) c.518C>T c.517C>T | |
| 17 | g.73196712C>A | CA400883911 | COG1 | c.521C>A (p.Pro174His) c.519C>A c.518C>A | |
| 17 | g.73196712C>G | CA400883918 | COG1 | c.521C>G (p.Pro174Arg) c.519C>G c.518C>G | |
| 17 | g.73196712C>T | CA400883921 | COG1 | c.521C>T (p.Pro174Leu) c.519C>T c.518C>T | |
| 17 | g.73196713T>A | CA502026216 | COG1 | c.522T>A (p.Pro174=) c.520T>A c.519T>A | |
| 17 | g.73196713T>C | CA8739979 | COG1 | c.522T>C (p.Pro174=) c.520T>C c.519T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196713T>G | CA502026217 | COG1 | c.522T>G (p.Pro174=) c.520T>G c.519T>G | |
| 17 | g.73196713T= | CA2274432018 | COG1 | c.522T= (p.Pro174=) c.520T= c.519T= | |
| 17 | g.73196714A= | CA2274432019 | COG1 | c.523A= (p.Ile175=) c.521A= c.520A= | |
| 17 | g.73196714A>C | CA400883929 | COG1 | c.523A>C (p.Ile175Leu) c.521A>C c.520A>C | |
| 17 | g.73196714A>G | CA400883928 | COG1 | c.523A>G (p.Ile175Val) c.521A>G c.520A>G | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196714A>T | CA400883930 | COG1 | c.523A>T (p.Ile175Leu) c.521A>T c.520A>T | |
| 17 | g.73196715T>A | CA400883933 | COG1 | c.524T>A (p.Ile175Lys) c.522T>A c.521T>A | |
| 17 | g.73196715T>C | CA400883937 | COG1 | c.524T>C (p.Ile175Thr) c.522T>C c.521T>C | gnomAD v3 gnomAD v4 |
| 17 | g.73196715T>G | CA400883939 | COG1 | c.524T>G (p.Ile175Arg) c.522T>G c.521T>G | |
| 17 | g.73196716A>C | CA502026220 | COG1 | c.525A>C (p.Ile175=) c.523A>C c.522A>C | |
| 17 | g.73196716A>G | CA400883940 | COG1 | c.525A>G (p.Ile175Met) c.523A>G c.522A>G | |
| 17 | g.73196716A>T | CA502026221 | COG1 | c.525A>T (p.Ile175=) c.523A>T c.522A>T | |
| 17 | g.73196716_73196717insGCCACCG | CA2639623292 | COG1 | c.525_526insGCCACCG (p.Leu176AlafsTer20) c.523_524insGCCACCG c.522_523insGCCACCG | gnomAD v4 |
| 17 | g.73196717C>A | CA400883941 | COG1 | c.526C>A (p.Leu176Ile) c.524C>A c.523C>A | |
| 17 | g.73196717C= | CA2274432020 | COG1 | c.526C= (p.Leu176=) c.524C= c.523C= | |
| 17 | g.73196717C>G | CA400883942 | COG1 | c.526C>G (p.Leu176Val) c.524C>G c.523C>G | |
| 17 | g.73196717C>T | CA8739980 | COG1 | c.526C>T (p.Leu176Phe) c.524C>T c.523C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196718T>A | CA400883947 | COG1 | c.527T>A (p.Leu176His) c.525T>A c.524T>A | |
| 17 | g.73196718T>C | CA400883949 | COG1 | c.527T>C (p.Leu176Pro) c.525T>C c.524T>C | |
| 17 | g.73196718T>G | CA400883951 | COG1 | c.527T>G (p.Leu176Arg) c.525T>G c.524T>G | gnomAD v4 |
| 17 | g.73196719C>A | CA502026225 | COG1 | c.528C>A (p.Leu176=) c.526C>A c.525C>A | |
| 17 | g.73196719C>G | CA502026226 | COG1 | c.528C>G (p.Leu176=) c.526C>G c.525C>G | |
| 17 | g.73196719C>T | CA502026223 | COG1 | c.528C>T (p.Leu176=) c.526C>T c.525C>T | |
| 17 | g.73196720A= | CA2274432021 | COG1 | c.529A= (p.Ile177=) c.527A= c.526A= | |
| 17 | g.73196720A>C | CA400883958 | COG1 | c.529A>C (p.Ile177Leu) c.527A>C c.526A>C | gnomAD v4 |
| 17 | g.73196720A>G | CA8739981 | COG1 | c.529A>G (p.Ile177Val) c.527A>G c.526A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196720A>T | CA400883954 | COG1 | c.529A>T (p.Ile177Phe) c.527A>T c.526A>T | |
| 17 | g.73196720_73196721insCGGCCCC | CA2639623301 | COG1 | c.529_530insCGGCCCC (p.Ile177ThrfsTer19) c.527_528insCGGCCCC c.526_527insCGGCCCC | gnomAD v4 |
| 17 | g.73196721T>A | CA400883963 | COG1 | c.530T>A (p.Ile177Asn) c.528T>A c.527T>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196721T>C | CA400883967 | COG1 | c.530T>C (p.Ile177Thr) c.528T>C c.527T>C | |
| 17 | g.73196721T>G | CA293799488 | COG1 | c.530T>G (p.Ile177Ser) c.528T>G c.527T>G | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196721T= | CA2274432022 | COG1 | c.530T= (p.Ile177=) c.528T= c.527T= | |
| 17 | g.73196721_73196722insTAAAGAATATAGA | CA2639623303 | COG1 | c.530_531insTAAAGAATATAGA (p.Arg178LysfsTer20) c.528_529insTAAAGAATATAGA c.527_528insTAAAGAATATAGA | gnomAD v4 |
| 17 | g.73196722C>A | CA502026231 | COG1 | c.531C>A (p.Ile177=) c.529C>A c.528C>A | |
| 17 | g.73196722C>G | CA400883974 | COG1 | c.531C>G (p.Ile177Met) c.529C>G c.528C>G | |
| 17 | g.73196722C>T | CA502026230 | COG1 | c.531C>T (p.Ile177=) c.529C>T c.528C>T | gnomAD v4 |
| 17 | g.73196723C>A | CA502026232 | COG1 | c.532C>A (p.Arg178=) c.530C>A c.529C>A | |
| 17 | g.73196723C= | CA2274432023 | COG1 | c.532C= (p.Arg178=) c.530C= c.529C= | |
| 17 | g.73196723C>G | CA400883975 | COG1 | c.532C>G (p.Arg178Gly) c.530C>G c.529C>G | |
| 17 | g.73196723C>T | CA293799498 | COG1 | c.532C>T (p.Arg178Trp) c.530C>T c.529C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196723_73196724insTAGCAATGAACGAAGTGAAAG | CA2639623310 | COG1 | c.532_533insTAGCAATGAACGAAGTGAAAG (p.Arg178delinsLeuAlaMetAsnGluValLysGly) c.530_531insTAGCAATGAACGAAGTGAAAG c.529_530insTAGCAATGAACGAAGTGAAAG | gnomAD v4 |
| 17 | g.73196724G>A | CA8739982 | COG1 | c.533G>A (p.Arg178Gln) c.531G>A c.530G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196724G>C | CA400883977 | COG1 | c.533G>C (p.Arg178Pro) c.531G>C c.530G>C | |
| 17 | g.73196724G= | CA2274432024 | COG1 | c.533G= (p.Arg178=) c.531G= c.530G= | |
| 17 | g.73196724G>T | CA400883980 | COG1 | c.533G>T (p.Arg178Leu) c.531G>T c.530G>T | |
| 17 | g.73196725G>A | CA502026234 | COG1 | c.534G>A (p.Arg178=) c.532G>A c.531G>A | |
| 17 | g.73196725G>C | CA502026236 | COG1 | c.534G>C (p.Arg178=) c.532G>C c.531G>C | |
| 17 | g.73196725G>T | CA502026235 | COG1 | c.534G>T (p.Arg178=) c.532G>T c.531G>T | |
| 17 | g.73196726C>A | CA400883987 | COG1 | c.535C>A (p.Gln179Lys) c.533C>A c.532C>A | |
| 17 | g.73196726C>G | CA400883994 | COG1 | c.535C>G (p.Gln179Glu) c.533C>G c.532C>G | |
| 17 | g.73196726C>T | CA400883999 | COG1 | c.535C>T (p.Gln179Ter) c.533C>T c.532C>T | |
| 17 | g.73196727A>C | CA400884012 | COG1 | c.536A>C (p.Gln179Pro) c.534A>C c.533A>C | |
| 17 | g.73196727A>G | CA400884016 | COG1 | c.536A>G (p.Gln179Arg) c.534A>G c.533A>G | gnomAD v4 |
| 17 | g.73196727A>T | CA400884009 | COG1 | c.536A>T (p.Gln179Leu) c.534A>T c.533A>T | |
| 17 | g.73196728G>A | CA502026238 | COG1 | c.537G>A (p.Gln179=) c.535G>A c.534G>A | |
| 17 | g.73196728G>C | CA400884022 | COG1 | c.537G>C (p.Gln179His) c.535G>C c.534G>C | |
| 17 | g.73196728G>T | CA400884024 | COG1 | c.537G>T (p.Gln179His) c.535G>T c.534G>T | |
| 17 | g.73196729G>A | CA400884028 | COG1 | c.538G>A (p.Val180Met) c.536G>A c.535G>A | gnomAD v4 |
| 17 | g.73196729G>C | CA400884029 | COG1 | c.538G>C (p.Val180Leu) c.536G>C c.535G>C | |
| 17 | g.73196729G>T | CA400884031 | COG1 | c.538G>T (p.Val180Leu) c.536G>T c.535G>T | |
| 17 | g.73196730T>A | CA8739983 | COG1 | c.539T>A (p.Val180Glu) c.537T>A c.536T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196730T>C | CA400884034 | COG1 | c.539T>C (p.Val180Ala) c.537T>C c.536T>C | |
| 17 | g.73196730T>G | CA400884044 | COG1 | c.539T>G (p.Val180Gly) c.537T>G c.536T>G | |
| 17 | g.73196730T= | CA2274432025 | COG1 | c.539T= (p.Val180=) c.537T= c.536T= | |
| 17 | g.73196731G>A | CA502026240 | COG1 | c.540G>A (p.Val180=) c.538G>A c.537G>A | |
| 17 | g.73196731G>C | CA502026241 | COG1 | c.540G>C (p.Val180=) c.538G>C c.537G>C | |
| 17 | g.73196731G>T | CA502026242 | COG1 | c.540G>T (p.Val180=) c.538G>T c.537G>T | |
| 17 | g.73196732G>A | CA8739984 | COG1 | c.541G>A (p.Ala181Thr) c.539G>A c.538G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196732G>C | CA400884051 | COG1 | c.541G>C (p.Ala181Pro) c.539G>C c.538G>C | |
| 17 | g.73196732G= | CA2274432026 | COG1 | c.541G= (p.Ala181=) c.539G= c.538G= | |
| 17 | g.73196732G>T | CA400884054 | COG1 | c.541G>T (p.Ala181Ser) c.539G>T c.538G>T | COSMIC |
| 17 | g.73196733C>A | CA400884058 | COG1 | c.542C>A (p.Ala181Glu) c.540C>A c.539C>A | |
| 17 | g.73196733C= | CA2274432027 | COG1 | c.542C= (p.Ala181=) c.540C= c.539C= | |
| 17 | g.73196733C>G | CA400884069 | COG1 | c.542C>G (p.Ala181Gly) c.540C>G c.539C>G | |
| 17 | g.73196733C>T | CA8739985 | COG1 | c.542C>T (p.Ala181Val) c.540C>T c.539C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196733_73196734delinsTG | CA1139665866 | COG1 | c.542_543delinsTG (p.Ala181Val) c.540_541delinsTG c.539_540delinsTG | ClinVar |
| 17 | g.73196734A= | CA2274432028 | COG1 | c.543A= (p.Ala181=) c.541A= c.540A= | |
| 17 | g.73196734A>C | CA502026245 | COG1 | c.543A>C (p.Ala181=) c.541A>C c.540A>C | |
| 17 | g.73196734A>G | CA149041 | COG1 | c.543A>G (p.Ala181=) c.541A>G c.540A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196734A>T | CA502026246 | COG1 | c.543A>T (p.Ala181=) c.541A>T c.540A>T | gnomAD v4 |
| 17 | g.73196735G>A | CA400884072 | COG1 | c.544G>A (p.Ala182Thr) c.542G>A c.541G>A | gnomAD v4 |
| 17 | g.73196735G>C | CA400884075 | COG1 | c.544G>C (p.Ala182Pro) c.542G>C c.541G>C | gnomAD v2 gnomAD v4 |
| 17 | g.73196735G= | CA2274432029 | COG1 | c.544G= (p.Ala182=) c.542G= c.541G= | |
| 17 | g.73196735G>T | CA400884078 | COG1 | c.544G>T (p.Ala182Ser) c.542G>T c.541G>T | gnomAD v4 |
| 17 | g.73196736C>A | CA400884079 | COG1 | c.545C>A (p.Ala182Asp) c.543C>A c.542C>A | |
| 17 | g.73196736C>G | CA400884080 | COG1 | c.545C>G (p.Ala182Gly) c.543C>G c.542C>G | gnomAD v4 |
| 17 | g.73196736C>T | CA400884084 | COG1 | c.545C>T (p.Ala182Val) c.543C>T c.542C>T | gnomAD v4 |
| 17 | g.73196737dup | CA8739986 | COG1 | c.546dup (p.Ala183ArgfsTer11) c.544dup c.543dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196737C>A | CA502026250 | COG1 | c.546C>A (p.Ala182=) c.544C>A c.543C>A | |
| 17 | g.73196737C= | CA2274432030 | COG1 | c.546C= (p.Ala182=) c.544C= c.543C= | |
| 17 | g.73196737C>G | CA502026249 | COG1 | c.546C>G (p.Ala182=) c.544C>G c.543C>G | |
| 17 | g.73196737C>T | CA8739987 | COG1 | c.546C>T (p.Ala182=) c.544C>T c.543C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196738G>A | CA8739989 | COG1 | c.547G>A (p.Ala183Thr) c.545G>A c.544G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196738G>C | CA8739988 | COG1 | c.547G>C (p.Ala183Pro) c.545G>C c.544G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.73196738G= | CA2274432031 | COG1 | c.547G= (p.Ala183=) c.545G= c.544G= | |
| 17 | g.73196738G>T | CA400884103 | COG1 | c.547G>T (p.Ala183Ser) c.545G>T c.544G>T | |
| 17 | g.73196739C>A | CA400884108 | COG1 | c.548C>A (p.Ala183Asp) c.546C>A c.545C>A | |
| 17 | g.73196739C= | CA2274432032 | COG1 | c.548C= (p.Ala183=) c.546C= c.545C= | |
| 17 | g.73196739C>G | CA400884112 | COG1 | c.548C>G (p.Ala183Gly) c.546C>G c.545C>G | |
| 17 | g.73196739C>T | CA293799541 | COG1 | c.548C>T (p.Ala183Val) c.546C>T c.545C>T | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.73196740C>A | CA502026255 | COG1 | c.549C>A (p.Ala183=) c.547C>A c.546C>A | |
| 17 | g.73196740C= | CA2274432033 | COG1 | c.549C= (p.Ala183=) c.547C= c.546C= | |
| 17 | g.73196740C>G | CA502026254 | COG1 | c.549C>G (p.Ala183=) c.547C>G c.546C>G | |
| 17 | g.73196740C>T | CA502026253 | COG1 | c.549C>T (p.Ala183=) c.547C>T c.546C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.73196741A>C | CA400884121 | COG1 | c.550A>C (p.Ser184Arg) c.548A>C c.547A>C | |
| 17 | g.73196741A>G | CA400884127 | COG1 | c.550A>G (p.Ser184Gly) c.548A>G c.547A>G | |
| 17 | g.73196741A>T | CA400884117 | COG1 | c.550A>T (p.Ser184Cys) c.548A>T c.547A>T | |
| 17 | g.73196742G>A | CA400884139 | COG1 | c.551G>A (p.Ser184Asn) c.549G>A c.548G>A | |
| 17 | g.73196742G>C | CA293799544 | COG1 | c.551G>C (p.Ser184Thr) c.549G>C c.548G>C | dbSNP gnomAD v4 |
| 17 | g.73196742G= | CA2274432034 | COG1 | c.551G= (p.Ser184=) c.549G= c.548G= | |
| 17 | g.73196742G>T | CA400884134 | COG1 | c.551G>T (p.Ser184Ile) c.549G>T c.548G>T | |
| 17 | g.73196743C>A | CA400884143 | COG1 | c.552C>A (p.Ser184Arg) c.550C>A c.549C>A | |
| 17 | g.73196743C= | CA2274432035 | COG1 | c.552C= (p.Ser184=) c.550C= c.549C= | |
| 17 | g.73196743C>G | CA400884145 | COG1 | c.552C>G (p.Ser184Arg) c.550C>G c.549C>G | |
| 17 | g.73196743C>T | CA502026256 | COG1 | c.552C>T (p.Ser184=) c.550C>T c.549C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.73196744C>A | CA8739990 | COG1 | c.553C>A (p.His185Asn) c.551C>A c.550C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.73196744C= | CA2274432036 | COG1 | c.553C= (p.His185=) c.551C= c.550C= | |
| 17 | g.73196744C>G | CA400884146 | COG1 | c.553C>G (p.His185Asp) c.551C>G c.550C>G | |
| 17 | g.73196744C>T | CA400884147 | COG1 | c.553C>T (p.His185Tyr) c.551C>T c.550C>T | gnomAD v4 |
| 17 | g.73196745A>C | CA400884152 | COG1 | c.554A>C (p.His185Pro) c.552A>C c.551A>C | |
| 17 | g.73196745A>G | CA400884157 | COG1 | c.554A>G (p.His185Arg) c.552A>G c.551A>G | |
| 17 | g.73196745A>T | CA400884159 | COG1 | c.554A>T (p.His185Leu) c.552A>T c.551A>T | |
| 17 | g.73196746C>A | CA400884163 | COG1 | c.555C>A (p.His185Gln) c.553C>A c.552C>A | |
| 17 | g.73196746C>G | CA400884166 | COG1 | c.555C>G (p.His185Gln) c.553C>G c.552C>G | |
| 17 | g.73196746C>T | CA502026257 | COG1 | c.555C>T (p.His185=) c.553C>T c.552C>T |