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 |
|---|---|---|---|---|---|
| 9 | g.133352429G>A | CA2692338831 | SURF1 | c.751+17C>T (n.751+17C>T) n.661+17C>T n.741+17C>T c.424+17C>T (n.424+17C>T) | gnomAD v4 |
| 9 | g.133352429G= | CA1882633964 | SURF1 | c.751+17C= (n.751+17C=) n.661+17C= n.741+17C= c.424+17C= (n.424+17C=) | |
| 9 | g.133352429G>T | CA200832300 | SURF1 | c.751+17C>A (n.751+17C>A) n.661+17C>A n.741+17C>A c.424+17C>A (n.424+17C>A) | dbSNP gnomAD v4 |
| 9 | g.133352430C>A | CA860707713 | SURF1 | c.751+16G>T (n.751+16G>T) n.661+16G>T n.741+16G>T c.424+16G>T (n.424+16G>T) | ClinVar dbSNP |
| 9 | g.133352430C= | CA1882633966 | SURF1 | c.751+16G= (n.751+16G=) n.661+16G= n.741+16G= c.424+16G= (n.424+16G=) | |
| 9 | g.133352431T>C | CA2697558158 | SURF1 | c.751+15A>G (n.751+15A>G) n.661+15A>G n.741+15A>G c.424+15A>G (n.424+15A>G) | ClinVar |
| 9 | g.133352431T>G | CA2692338837 | SURF1 | c.751+15A>C (n.751+15A>C) n.661+15A>C n.741+15A>C c.424+15A>C (n.424+15A>C) | gnomAD v4 |
| 9 | g.133352432G>A | CA2692338841 | SURF1 | c.751+14C>T (n.751+14C>T) n.661+14C>T n.741+14C>T c.424+14C>T (n.424+14C>T) | gnomAD v4 |
| 9 | g.133352432G>C | CA2692338842 | SURF1 | c.751+14C>G (n.751+14C>G) n.661+14C>G n.741+14C>G c.424+14C>G (n.424+14C>G) | gnomAD v4 |
| 9 | g.133352433G>A | CA2579498330 | SURF1 | c.751+13C>T (n.751+13C>T) n.661+13C>T n.741+13C>T c.424+13C>T (n.424+13C>T) | ClinVar gnomAD v4 |
| 9 | g.133352434T>C | CA860707716 | SURF1 | c.751+12A>G (n.751+12A>G) n.661+12A>G n.741+12A>G c.424+12A>G (n.424+12A>G) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352434T= | CA1882633967 | SURF1 | c.751+12A= (n.751+12A=) n.661+12A= n.741+12A= c.424+12A= (n.424+12A=) | |
| 9 | g.133352434_133352435delinsTC | CA1882633968 | SURF1 | c.751+11_751+12delinsGA (n.751+11_751+12delinsGA) n.661+11_661+12delinsGA n.741+11_741+12delinsGA c.424+11_424+12delinsGA (n.424+11_424+12delinsGA) | |
| 9 | g.133352436del | CA1882633970 | SURF1 | c.751+11del (n.751+11del) n.661+11del n.741+11del c.424+11del (n.424+11del) | dbSNP |
| 9 | g.133352436C>T | CA2579498331 | SURF1 | c.751+10G>A (n.751+10G>A) n.661+10G>A n.741+10G>A c.424+10G>A (n.424+10G>A) | ClinVar |
| 9 | g.133352437A= | CA1882633972 | SURF1 | c.751+9T= (n.751+9T=) n.661+9T= n.741+9T= c.424+9T= (n.424+9T=) | |
| 9 | g.133352437A>G | CA200832303 | SURF1 | c.751+9T>C (n.751+9T>C) n.661+9T>C n.741+9T>C c.424+9T>C (n.424+9T>C) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352439A= | CA1882633973 | SURF1 | c.751+7T= (n.751+7T=) n.661+7T= n.741+7T= c.424+7T= (n.424+7T=) | |
| 9 | g.133352439A>G | CA200832304 | SURF1 | c.751+7T>C (n.751+7T>C) n.661+7T>C n.741+7T>C c.424+7T>C (n.424+7T>C) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133352440A= | CA1882633977 | SURF1 | c.751+6T= (n.751+6T=) n.661+6T= n.741+6T= c.424+6T= (n.424+6T=) | |
| 9 | g.133352440A>C | CA2580904746 | SURF1 | c.751+6T>G (n.751+6T>G) n.661+6T>G n.741+6T>G c.424+6T>G (n.424+6T>G) | |
| 9 | g.133352440A>G | CA293833 | SURF1 | c.751+6T>C (n.751+6T>C) n.661+6T>C n.741+6T>C c.424+6T>C (n.424+6T>C) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352440A>T | CA2580904745 | SURF1 | c.751+6T>A (n.751+6T>A) n.661+6T>A n.741+6T>A c.424+6T>A (n.424+6T>A) | |
| 9 | g.133352441C>A | CA860707720 | SURF1 | c.751+5G>T (n.751+5G>T) n.661+5G>T n.741+5G>T c.424+5G>T (n.424+5G>T) | dbSNP gnomAD v4 |
| 9 | g.133352441C= | CA1882633982 | SURF1 | c.751+5G= (n.751+5G=) n.661+5G= n.741+5G= c.424+5G= (n.424+5G=) | |
| 9 | g.133352441C>T | CA16042683 | SURF1 | c.751+5G>A (n.751+5G>A) n.661+5G>A n.741+5G>A c.424+5G>A (n.424+5G>A) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352442G>A | CA200832311 | SURF1 | c.751+4C>T (n.751+4C>T) n.661+4C>T n.741+4C>T c.424+4C>T (n.424+4C>T) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352442G= | CA1882633985 | SURF1 | c.751+4C= (n.751+4C=) n.661+4C= n.741+4C= c.424+4C= (n.424+4C=) | |
| 9 | g.133352444A>C | CA375693591 | SURF1 | c.751+2T>G (n.751+2T>G) n.661+2T>G n.741+2T>G c.424+2T>G (n.424+2T>G) | |
| 9 | g.133352444A>G | CA375693592 | SURF1 | c.751+2T>C (n.751+2T>C) n.661+2T>C n.741+2T>C c.424+2T>C (n.424+2T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352444A>T | CA375693593 | SURF1 | c.751+2T>A (n.751+2T>A) n.661+2T>A n.741+2T>A c.424+2T>A (n.424+2T>A) | gnomAD v4 |
| 9 | g.133352445C>A | CA375693594 | SURF1 | c.751+1G>T (n.751+1G>T) n.661+1G>T n.741+1G>T c.424+1G>T (n.424+1G>T) | |
| 9 | g.133352445C= | CA1882633988 | SURF1 | c.751+1G= (n.751+1G=) n.661+1G= n.741+1G= c.424+1G= (n.424+1G=) | |
| 9 | g.133352445C>G | CA375693595 | SURF1 | c.751+1G>C (n.751+1G>C) n.661+1G>C n.741+1G>C c.424+1G>C (n.424+1G>C) | dbSNP gnomAD v4 |
| 9 | g.133352445C>T | CA200832313 | SURF1 | c.751+1G>A (n.751+1G>A) n.661+1G>A n.741+1G>A c.424+1G>A (n.424+1G>A) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352445_133352446delinsCG | CA1882633991 | SURF1 | c.751_751+1delinsCG n.661_661+1delinsCG n.741_741+1delinsCG c.424_424+1delinsCG | |
| 9 | g.133352446G>A | CA122692 | SURF1 | c.751C>T (p.Gln251Ter) n.661C>T n.741C>T c.424C>T (p.Gln142Ter) | ClinVar dbSNP dbSNP gnomAD v4 COSMIC |
| 9 | g.133352446G>C | CA375693597 | SURF1 | c.751C>G (p.Gln251Glu) n.661C>G n.741C>G c.424C>G (p.Gln142Glu) | |
| 9 | g.133352446G= | CA1882633998 | SURF1 | c.751C= (p.Gln251=) n.661C= n.741C= c.424C= (p.Gln142=) | |
| 9 | g.133352446G>T | CA375693596 | SURF1 | c.751C>A (p.Gln251Lys) n.661C>A n.741C>A c.424C>A (p.Gln142Lys) | |
| 9 | g.133352447del | CA1882633996 | SURF1 | c.751del (p.Gln251ArgfsTer17) n.661del n.741del c.424del (p.Gln142ArgfsTer17) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133352447G>C | CA200832316 | SURF1 | c.750C>G (p.Phe250Leu) n.660C>G n.740C>G c.423C>G (p.Phe141Leu) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133352447G= | CA1882634004 | SURF1 | c.750C= (p.Phe250=) n.660C= n.740C= c.423C= (p.Phe141=) | |
| 9 | g.133352447G>T | CA375693598 | SURF1 | c.750C>A (p.Phe250Leu) n.660C>A n.740C>A c.423C>A (p.Phe141Leu) | COSMIC |
| 9 | g.133352448A>C | CA375693599 | SURF1 | c.749T>G (p.Phe250Cys) n.659T>G n.739T>G c.422T>G (p.Phe141Cys) | |
| 9 | g.133352448A>G | CA375693600 | SURF1 | c.749T>C (p.Phe250Ser) n.659T>C n.739T>C c.422T>C (p.Phe141Ser) | |
| 9 | g.133352448A>T | CA375693601 | SURF1 | c.749T>A (p.Phe250Tyr) n.659T>A n.739T>A c.422T>A (p.Phe141Tyr) | |
| 9 | g.133352449A= | CA1882634007 | SURF1 | c.748T= (p.Phe250=) n.658T= n.738T= c.421T= (p.Phe141=) | |
| 9 | g.133352449A>C | CA375693602 | SURF1 | c.748T>G (p.Phe250Val) n.658T>G n.738T>G c.421T>G (p.Phe141Val) | |
| 9 | g.133352449A>G | CA375693603 | SURF1 | c.748T>C (p.Phe250Leu) n.658T>C n.738T>C c.421T>C (p.Phe141Leu) | dbSNP gnomAD v4 |
| 9 | g.133352449A>T | CA375693604 | SURF1 | c.748T>A (p.Phe250Ile) n.658T>A n.738T>A c.421T>A (p.Phe141Ile) | |
| 9 | g.133352450G>A | CA2579498332 | SURF1 | c.747C>T (p.Asn249=) n.657C>T n.737C>T c.420C>T (p.Asn140=) | ClinVar gnomAD v4 |
| 9 | g.133352450G>C | CA375693605 | SURF1 | c.747C>G (p.Asn249Lys) n.657C>G n.737C>G c.420C>G (p.Asn140Lys) | |
| 9 | g.133352450G= | CA1882634010 | SURF1 | c.747C= (p.Asn249=) n.657C= n.737C= c.420C= (p.Asn140=) | |
| 9 | g.133352450G>T | CA375693606 | SURF1 | c.747C>A (p.Asn249Lys) n.657C>A n.737C>A c.420C>A (p.Asn140Lys) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133352451T>A | CA375693607 | SURF1 | c.746A>T (p.Asn249Ile) n.656A>T n.736A>T c.419A>T (p.Asn140Ile) | |
| 9 | g.133352451T>C | CA375693608 | SURF1 | c.746A>G (p.Asn249Ser) n.656A>G n.736A>G c.419A>G (p.Asn140Ser) | dbSNP gnomAD v4 |
| 9 | g.133352451T>G | CA375693609 | SURF1 | c.746A>C (p.Asn249Thr) n.656A>C n.736A>C c.419A>C (p.Asn140Thr) | |
| 9 | g.133352451T= | CA1882634013 | SURF1 | c.746A= (p.Asn249=) n.656A= n.736A= c.419A= (p.Asn140=) | |
| 9 | g.133352452T>A | CA375693611 | SURF1 | c.745A>T (p.Asn249Tyr) n.655A>T n.735A>T c.418A>T (p.Asn140Tyr) | |
| 9 | g.133352452T>C | CA322228 | SURF1 | c.745A>G (p.Asn249Asp) n.655A>G n.735A>G c.418A>G (p.Asn140Asp) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352452T>G | CA375693610 | SURF1 | c.745A>C (p.Asn249His) n.655A>C n.735A>C c.418A>C (p.Asn140His) | gnomAD v4 |
| 9 | g.133352452T= | CA1882634018 | SURF1 | c.745A= (p.Asn249=) n.655A= n.735A= c.418A= (p.Asn140=) | |
| 9 | g.133352453G>A | CA200832322 | SURF1 | c.744C>T (p.Ala248=) n.654C>T n.734C>T c.417C>T (p.Ala139=) | dbSNP gnomAD v4 |
| 9 | g.133352453G= | CA1882634024 | SURF1 | c.744C= (p.Ala248=) n.654C= n.734C= c.417C= (p.Ala139=) | |
| 9 | g.133352453_133352474delinsGGCATCAATGAAGATGGGCTCT | CA1882634023 | SURF1 | c.723_744delinsAGAGCCCATCTTCATTGATGCC (p.Ala241=) n.633_654delinsAGAGCCCATCTTCATTGATGCC n.713_734delinsAGAGCCCATCTTCATTGATGCC c.396_417delinsAGAGCCCATCTTCATTGATGCC (p.Ala132=) | |
| 9 | g.133352454G>A | CA375693612 | SURF1 | c.743C>T (p.Ala248Val) n.653C>T n.733C>T c.416C>T (p.Ala139Val) | dbSNP gnomAD v4 |
| 9 | g.133352454G>C | CA375693613 | SURF1 | c.743C>G (p.Ala248Gly) n.653C>G n.733C>G c.416C>G (p.Ala139Gly) | |
| 9 | g.133352454G= | CA1882634028 | SURF1 | c.743C= (p.Ala248=) n.653C= n.733C= c.416C= (p.Ala139=) | |
| 9 | g.133352454G>T | CA375693614 | SURF1 | c.743C>A (p.Ala248Asp) n.653C>A n.733C>A c.416C>A (p.Ala139Asp) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133352456_133352476del | CA1882634027 | SURF1 | c.723_743del (p.Glu242_Ala248del) n.633_653del n.713_733del c.396_416del (p.Glu133_Ala139del) | dbSNP |
| 9 | g.133352455C>A | CA375693615 | SURF1 | c.742G>T (p.Ala248Ser) n.652G>T n.732G>T c.415G>T (p.Ala139Ser) | |
| 9 | g.133352455C= | CA1882634034 | SURF1 | c.742G= (p.Ala248=) n.652G= n.732G= c.415G= (p.Ala139=) | |
| 9 | g.133352455C>G | CA375693616 | SURF1 | c.742G>C (p.Ala248Pro) n.652G>C n.732G>C c.415G>C (p.Ala139Pro) | |
| 9 | g.133352455C>T | CA375693617 | SURF1 | c.742G>A (p.Ala248Thr) n.652G>A n.732G>A c.415G>A (p.Ala139Thr) | dbSNP |
| 9 | g.133352456A>C | CA375693618 | SURF1 | c.741T>G (p.Asp247Glu) n.651T>G n.731T>G c.414T>G (p.Asp138Glu) | |
| 9 | g.133352456A>G | CA2579498333 | SURF1 | c.741T>C (p.Asp247=) n.651T>C n.731T>C c.414T>C (p.Asp138=) | ClinVar |
| 9 | g.133352456A>T | CA375693619 | SURF1 | c.741T>A (p.Asp247Glu) n.651T>A n.731T>A c.414T>A (p.Asp138Glu) | |
| 9 | g.133352457T>A | CA375693620 | SURF1 | c.740A>T (p.Asp247Val) n.650A>T n.730A>T c.413A>T (p.Asp138Val) | |
| 9 | g.133352457T>C | CA375693621 | SURF1 | c.740A>G (p.Asp247Gly) n.650A>G n.730A>G c.413A>G (p.Asp138Gly) | |
| 9 | g.133352457T>G | CA375693622 | SURF1 | c.740A>C (p.Asp247Ala) n.650A>C n.730A>C c.413A>C (p.Asp138Ala) | |
| 9 | g.133352458C>A | CA375693623 | SURF1 | c.739G>T (p.Asp247Tyr) n.649G>T n.729G>T c.412G>T (p.Asp138Tyr) | |
| 9 | g.133352458C= | CA1882634037 | SURF1 | c.739G= (p.Asp247=) n.649G= n.729G= c.412G= (p.Asp138=) | |
| 9 | g.133352458C>G | CA375693624 | SURF1 | c.739G>C (p.Asp247His) n.649G>C n.729G>C c.412G>C (p.Asp138His) | |
| 9 | g.133352458C>T | CA375693625 | SURF1 | c.739G>A (p.Asp247Asn) n.649G>A n.729G>A c.412G>A (p.Asp138Asn) | dbSNP |
| 9 | g.133352459A>C | CA375693626 | SURF1 | c.738T>G (p.Ile246Met) n.648T>G n.728T>G c.411T>G (p.Ile137Met) | |
| 9 | g.133352459A>G | CA2692338937 | SURF1 | c.738T>C (p.Ile246=) n.648T>C n.728T>C c.411T>C (p.Ile137=) | ClinVar gnomAD v4 |
| 9 | g.133352460A= | CA1882634039 | SURF1 | c.737T= (p.Ile246=) n.647T= n.727T= c.410T= (p.Ile137=) | |
| 9 | g.133352460A>C | CA375693629 | SURF1 | c.737T>G (p.Ile246Ser) n.647T>G n.727T>G c.410T>G (p.Ile137Ser) | gnomAD v4 |
| 9 | g.133352460A>G | CA375693627 | SURF1 | c.737T>C (p.Ile246Thr) n.647T>C n.727T>C c.410T>C (p.Ile137Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352460A>T | CA375693628 | SURF1 | c.737T>A (p.Ile246Asn) n.647T>A n.727T>A c.410T>A (p.Ile137Asn) | |
| 9 | g.133352461T>A | CA375693630 | SURF1 | c.736A>T (p.Ile246Phe) n.646A>T n.726A>T c.409A>T (p.Ile137Phe) | |
| 9 | g.133352461T>C | CA200832325 | SURF1 | c.736A>G (p.Ile246Val) n.646A>G n.726A>G c.409A>G (p.Ile137Val) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352461T>G | CA375693631 | SURF1 | c.736A>C (p.Ile246Leu) n.646A>C n.726A>C c.409A>C (p.Ile137Leu) | |
| 9 | g.133352461T= | CA1882634044 | SURF1 | c.736A= (p.Ile246=) n.646A= n.726A= c.409A= (p.Ile137=) | |
| 9 | g.133352462G>A | CA2692338945 | SURF1 | c.735C>T (p.Phe245=) n.645C>T n.725C>T c.408C>T (p.Phe136=) | gnomAD v4 |
| 9 | g.133352462G>C | CA375693632 | SURF1 | c.735C>G (p.Phe245Leu) n.645C>G n.725C>G c.408C>G (p.Phe136Leu) | |
| 9 | g.133352462G= | CA1882634047 | SURF1 | c.735C= (p.Phe245=) n.645C= n.725C= c.408C= (p.Phe136=) | |
| 9 | g.133352462G>T | CA375693633 | SURF1 | c.735C>A (p.Phe245Leu) n.645C>A n.725C>A c.408C>A (p.Phe136Leu) | dbSNP |
| 9 | g.133352463A>C | CA375693634 | SURF1 | c.734T>G (p.Phe245Cys) n.644T>G n.724T>G c.407T>G (p.Phe136Cys) | |
| 9 | g.133352463A>G | CA375693635 | SURF1 | c.734T>C (p.Phe245Ser) n.644T>C n.724T>C c.407T>C (p.Phe136Ser) | COSMIC |
| 9 | g.133352463A>T | CA375693636 | SURF1 | c.734T>A (p.Phe245Tyr) n.644T>A n.724T>A c.407T>A (p.Phe136Tyr) | |
| 9 | g.133352464A>C | CA375693637 | SURF1 | c.733T>G (p.Phe245Val) n.643T>G n.723T>G c.406T>G (p.Phe136Val) | |
| 9 | g.133352464A>G | CA375693638 | SURF1 | c.733T>C (p.Phe245Leu) n.643T>C n.723T>C c.406T>C (p.Phe136Leu) | |
| 9 | g.133352464A>T | CA375693639 | SURF1 | c.733T>A (p.Phe245Ile) n.643T>A n.723T>A c.406T>A (p.Phe136Ile) | |
| 9 | g.133352465G>A | CA200832328 | SURF1 | c.732C>T (p.Ile244=) n.642C>T n.722C>T c.405C>T (p.Ile135=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352465G>C | CA375693640 | SURF1 | c.732C>G (p.Ile244Met) n.642C>G n.722C>G c.405C>G (p.Ile135Met) | gnomAD v4 |
| 9 | g.133352465G= | CA1882634049 | SURF1 | c.732C= (p.Ile244=) n.642C= n.722C= c.405C= (p.Ile135=) | |
| 9 | g.133352466A= | CA1882634052 | SURF1 | c.731T= (p.Ile244=) n.641T= n.721T= c.404T= (p.Ile135=) | |
| 9 | g.133352466A>C | CA375693641 | SURF1 | c.731T>G (p.Ile244Ser) n.641T>G n.721T>G c.404T>G (p.Ile135Ser) | |
| 9 | g.133352466A>G | CA375693642 | SURF1 | c.731T>C (p.Ile244Thr) n.641T>C n.721T>C c.404T>C (p.Ile135Thr) | dbSNP gnomAD v4 |
| 9 | g.133352466A>T | CA375693643 | SURF1 | c.731T>A (p.Ile244Asn) n.641T>A n.721T>A c.404T>A (p.Ile135Asn) | |
| 9 | g.133352466dup | CA2695211587 | SURF1 | c.731dup (p.Phe245LeufsTer3) n.641dup n.721dup c.404dup (p.Phe136LeufsTer3) | |
| 9 | g.133352467T>A | CA375693644 | SURF1 | c.730A>T (p.Ile244Phe) n.640A>T n.720A>T c.403A>T (p.Ile135Phe) | |
| 9 | g.133352467T>C | CA375693645 | SURF1 | c.730A>G (p.Ile244Val) n.640A>G n.720A>G c.403A>G (p.Ile135Val) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352467T>G | CA375693646 | SURF1 | c.730A>C (p.Ile244Leu) n.640A>C n.720A>C c.403A>C (p.Ile135Leu) | |
| 9 | g.133352467T= | CA1882634055 | SURF1 | c.730A= (p.Ile244=) n.640A= n.720A= c.403A= (p.Ile135=) | |
| 9 | g.133352468G>A | CA1129731666 | SURF1 | c.729C>T (p.Pro243=) n.639C>T n.719C>T c.402C>T (p.Pro134=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352468G= | CA1882634057 | SURF1 | c.729C= (p.Pro243=) n.639C= n.719C= c.402C= (p.Pro134=) | |
| 9 | g.133352468G>T | CA1882634058 | SURF1 | c.729C>A (p.Pro243=) n.639C>A n.719C>A c.402C>A (p.Pro134=) | dbSNP gnomAD v4 |
| 9 | g.133352469G>A | CA375693647 | SURF1 | c.728C>T (p.Pro243Leu) n.638C>T n.718C>T c.401C>T (p.Pro134Leu) | gnomAD v4 |
| 9 | g.133352469G>C | CA375693648 | SURF1 | c.728C>G (p.Pro243Arg) n.638C>G n.718C>G c.401C>G (p.Pro134Arg) | |
| 9 | g.133352469G= | CA1882634061 | SURF1 | c.728C= (p.Pro243=) n.638C= n.718C= c.401C= (p.Pro134=) | |
| 9 | g.133352469G>T | CA200832330 | SURF1 | c.728C>A (p.Pro243His) n.638C>A n.718C>A c.401C>A (p.Pro134His) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352470G>A | CA200832333 | SURF1 | c.727C>T (p.Pro243Ser) n.637C>T n.717C>T c.400C>T (p.Pro134Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352470G>C | CA375693649 | SURF1 | c.727C>G (p.Pro243Ala) n.637C>G n.717C>G c.400C>G (p.Pro134Ala) | |
| 9 | g.133352470G= | CA1882634066 | SURF1 | c.727C= (p.Pro243=) n.637C= n.717C= c.400C= (p.Pro134=) | |
| 9 | g.133352470G>T | CA375693650 | SURF1 | c.727C>A (p.Pro243Thr) n.637C>A n.717C>A c.400C>A (p.Pro134Thr) | ClinVar |
| 9 | g.133352471C>A | CA375693651 | SURF1 | c.726G>T (p.Glu242Asp) n.636G>T n.716G>T c.399G>T (p.Glu133Asp) | |
| 9 | g.133352471C>G | CA375693652 | SURF1 | c.726G>C (p.Glu242Asp) n.636G>C n.716G>C c.399G>C (p.Glu133Asp) | gnomAD v4 |
| 9 | g.133352472T>A | CA375693654 | SURF1 | c.725A>T (p.Glu242Val) n.635A>T n.715A>T c.398A>T (p.Glu133Val) | |
| 9 | g.133352472T>C | CA375693653 | SURF1 | c.725A>G (p.Glu242Gly) n.635A>G n.715A>G c.398A>G (p.Glu133Gly) | |
| 9 | g.133352472T>G | CA200832335 | SURF1 | c.725A>C (p.Glu242Ala) n.635A>C n.715A>C c.398A>C (p.Glu133Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352472T= | CA1882634069 | SURF1 | c.725A= (p.Glu242=) n.635A= n.715A= c.398A= (p.Glu133=) | |
| 9 | g.133352473del | CA2786166462 | SURF1 | c.724del (p.Glu242SerfsTer26) n.634del n.714del c.397del (p.Glu133SerfsTer26) | |
| 9 | g.133352473C>A | CA375693656 | SURF1 | c.724G>T (p.Glu242Ter) n.634G>T n.714G>T c.397G>T (p.Glu133Ter) | |
| 9 | g.133352473C>G | CA375693655 | SURF1 | c.724G>C (p.Glu242Gln) n.634G>C n.714G>C c.397G>C (p.Glu133Gln) | |
| 9 | g.133352473C>T | CA375693657 | SURF1 | c.724G>A (p.Glu242Lys) n.634G>A n.714G>A c.397G>A (p.Glu133Lys) | |
| 9 | g.133352474T>A | CA645550598 | SURF1 | c.723A>T (p.Ala241=) n.633A>T n.713A>T c.396A>T (p.Ala132=) | COSMIC |
| 9 | g.133352474T>C | CA860707796 | SURF1 | c.723A>G (p.Ala241=) n.633A>G n.713A>G c.396A>G (p.Ala132=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352474T= | CA1882634071 | SURF1 | c.723A= (p.Ala241=) n.633A= n.713A= c.396A= (p.Ala132=) | |
| 9 | g.133352475G>A | CA200832340 | SURF1 | c.722C>T (p.Ala241Val) n.632C>T n.712C>T c.395C>T (p.Ala132Val) | dbSNP |
| 9 | g.133352475G>C | CA375693659 | SURF1 | c.722C>G (p.Ala241Gly) n.632C>G n.712C>G c.395C>G (p.Ala132Gly) | |
| 9 | g.133352475G= | CA1882634075 | SURF1 | c.722C= (p.Ala241=) n.632C= n.712C= c.395C= (p.Ala132=) | |
| 9 | g.133352475G>T | CA375693658 | SURF1 | c.722C>A (p.Ala241Glu) n.632C>A n.712C>A c.395C>A (p.Ala132Glu) | |
| 9 | g.133352475dup | CA200832338 | SURF1 | c.722dup (p.Glu242ArgfsTer6) n.632dup n.712dup c.395dup (p.Glu133ArgfsTer6) | dbSNP |
| 9 | g.133352476C>A | CA375693660 | SURF1 | c.721G>T (p.Ala241Ser) n.631G>T n.711G>T c.394G>T (p.Ala132Ser) | gnomAD v4 |
| 9 | g.133352476C= | CA1882634077 | SURF1 | c.721G= (p.Ala241=) n.631G= n.711G= c.394G= (p.Ala132=) | |
| 9 | g.133352476C>G | CA375693661 | SURF1 | c.721G>C (p.Ala241Pro) n.631G>C n.711G>C c.394G>C (p.Ala132Pro) | |
| 9 | g.133352476C>T | CA200832342 | SURF1 | c.721G>A (p.Ala241Thr) n.631G>A n.711G>A c.394G>A (p.Ala132Thr) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.133352477G>A | CA200832346 | SURF1 | c.720C>T (p.Gly240=) n.630C>T n.710C>T c.393C>T (p.Gly131=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352477G= | CA1882634080 | SURF1 | c.720C= (p.Gly240=) n.630C= n.710C= c.393C= (p.Gly131=) | |
| 9 | g.133352477G>T | CA915947331 | SURF1 | c.720C>A (p.Gly240=) n.630C>A n.710C>A c.393C>A (p.Gly131=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352478C>A | CA375693662 | SURF1 | c.719G>T (p.Gly240Val) n.629G>T n.709G>T c.392G>T (p.Gly131Val) | |
| 9 | g.133352478C= | CA1882634086 | SURF1 | c.719G= (p.Gly240=) n.629G= n.709G= c.392G= (p.Gly131=) | |
| 9 | g.133352478C>G | CA375693663 | SURF1 | c.719G>C (p.Gly240Ala) n.629G>C n.709G>C c.392G>C (p.Gly131Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352478C>T | CA200832347 | SURF1 | c.719G>A (p.Gly240Asp) n.629G>A n.709G>A c.392G>A (p.Gly131Asp) | dbSNP gnomAD v4 |
| 9 | g.133352479C>A | CA375693664 | SURF1 | c.718G>T (p.Gly240Cys) n.628G>T n.708G>T c.391G>T (p.Gly131Cys) | |
| 9 | g.133352479C>G | CA375693665 | SURF1 | c.718G>C (p.Gly240Arg) n.628G>C n.708G>C c.391G>C (p.Gly131Arg) | |
| 9 | g.133352479C>T | CA375693666 | SURF1 | c.718G>A (p.Gly240Ser) n.628G>A n.708G>A c.391G>A (p.Gly131Ser) | |
| 9 | g.133352480T>C | CA860707812 | SURF1 | c.717A>G (p.Thr239=) n.627A>G n.707A>G c.390A>G (p.Thr130=) | dbSNP |
| 9 | g.133352480T= | CA1882634088 | SURF1 | c.717A= (p.Thr239=) n.627A= n.707A= c.390A= (p.Thr130=) | |
| 9 | g.133352481G>A | CA375693669 | SURF1 | c.716C>T (p.Thr239Ile) n.626C>T n.706C>T c.389C>T (p.Thr130Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352481G>C | CA375693668 | SURF1 | c.716C>G (p.Thr239Arg) n.626C>G n.706C>G c.389C>G (p.Thr130Arg) | |
| 9 | g.133352481G= | CA1882634091 | SURF1 | c.716C= (p.Thr239=) n.626C= n.706C= c.389C= (p.Thr130=) | |
| 9 | g.133352481G>T | CA375693667 | SURF1 | c.716C>A (p.Thr239Lys) n.626C>A n.706C>A c.389C>A (p.Thr130Lys) | |
| 9 | g.133352482T>A | CA375693670 | SURF1 | c.715A>T (p.Thr239Ser) n.625A>T n.705A>T c.388A>T (p.Thr130Ser) | |
| 9 | g.133352482T>C | CA375693671 | SURF1 | c.715A>G (p.Thr239Ala) n.625A>G n.705A>G c.388A>G (p.Thr130Ala) | |
| 9 | g.133352482T>G | CA375693672 | SURF1 | c.715A>C (p.Thr239Pro) n.625A>C n.705A>C c.388A>C (p.Thr130Pro) | |
| 9 | g.133352483G>C | CA375693673 | SURF1 | c.714C>G (p.Ile238Met) n.624C>G n.704C>G c.387C>G (p.Ile129Met) | |
| 9 | g.133352484A= | CA1882634096 | SURF1 | c.713T= (p.Ile238=) n.623T= n.703T= c.386T= (p.Ile129=) | |
| 9 | g.133352484A>C | CA375693674 | SURF1 | c.713T>G (p.Ile238Ser) n.623T>G n.703T>G c.386T>G (p.Ile129Ser) | dbSNP gnomAD v4 |
| 9 | g.133352484A>G | CA375693675 | SURF1 | c.713T>C (p.Ile238Thr) n.623T>C n.703T>C c.386T>C (p.Ile129Thr) | ClinVar dbSNP |
| 9 | g.133352484A>T | CA375693676 | SURF1 | c.713T>A (p.Ile238Asn) n.623T>A n.703T>A c.386T>A (p.Ile129Asn) | |
| 9 | g.133352485T>A | CA375693677 | SURF1 | c.712A>T (p.Ile238Phe) n.622A>T n.702A>T c.385A>T (p.Ile129Phe) | |
| 9 | g.133352485T>C | CA375693678 | SURF1 | c.712A>G (p.Ile238Val) n.622A>G n.702A>G c.385A>G (p.Ile129Val) | gnomAD v4 |
| 9 | g.133352485T>G | CA375693679 | SURF1 | c.712A>C (p.Ile238Leu) n.622A>C n.702A>C c.385A>C (p.Ile129Leu) | |
| 9 | g.133352486T>A | CA375693680 | SURF1 | c.711A>T (p.Arg237Ser) n.621A>T n.701A>T c.384A>T (p.Arg128Ser) | |
| 9 | g.133352486T>G | CA375693681 | SURF1 | c.711A>C (p.Arg237Ser) n.621A>C n.701A>C c.384A>C (p.Arg128Ser) | |
| 9 | g.133352487C>A | CA375693684 | SURF1 | c.710G>T (p.Arg237Ile) n.620G>T n.700G>T c.383G>T (p.Arg128Ile) | |
| 9 | g.133352487C>G | CA375693683 | SURF1 | c.710G>C (p.Arg237Thr) n.620G>C n.700G>C c.383G>C (p.Arg128Thr) | |
| 9 | g.133352487C>T | CA375693682 | SURF1 | c.710G>A (p.Arg237Lys) n.620G>A n.700G>A c.383G>A (p.Arg128Lys) | |
| 9 | g.133352488T>A | CA375693685 | SURF1 | c.709A>T (p.Arg237Ter) n.619A>T n.699A>T c.382A>T (p.Arg128Ter) | |
| 9 | g.133352488T>C | CA200832350 | SURF1 | c.709A>G (p.Arg237Gly) n.619A>G n.699A>G c.382A>G (p.Arg128Gly) | dbSNP |
| 9 | g.133352488T>G | CA1882634099 | SURF1 | c.709A>C (p.Arg237=) n.619A>C n.699A>C c.382A>C (p.Arg128=) | dbSNP |
| 9 | g.133352488T= | CA1882634101 | SURF1 | c.709A= (p.Arg237=) n.619A= n.699A= c.382A= (p.Arg128=) | |
| 9 | g.133352489G>A | CA200832352 | SURF1 | c.708C>T (p.Ala236=) n.618C>T n.698C>T c.381C>T (p.Ala127=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352489G= | CA1882634103 | SURF1 | c.708C= (p.Ala236=) n.618C= n.698C= c.381C= (p.Ala127=) | |
| 9 | g.133352489G>T | CA200832353 | SURF1 | c.708C>A (p.Ala236=) n.618C>A n.698C>A c.381C>A (p.Ala127=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352490G>A | CA375693686 | SURF1 | c.707C>T (p.Ala236Val) n.617C>T n.697C>T c.380C>T (p.Ala127Val) | ClinVar dbSNP |
| 9 | g.133352490G>C | CA375693687 | SURF1 | c.707C>G (p.Ala236Gly) n.617C>G n.697C>G c.380C>G (p.Ala127Gly) | dbSNP |
| 9 | g.133352490G= | CA1882634106 | SURF1 | c.707C= (p.Ala236=) n.617C= n.697C= c.380C= (p.Ala127=) | |
| 9 | g.133352490G>T | CA375693688 | SURF1 | c.707C>A (p.Ala236Asp) n.617C>A n.697C>A c.380C>A (p.Ala127Asp) | |
| 9 | g.133352491C>A | CA375693690 | SURF1 | c.706G>T (p.Ala236Ser) n.616G>T n.696G>T c.379G>T (p.Ala127Ser) | |
| 9 | g.133352491C= | CA1882634115 | SURF1 | c.706G= (p.Ala236=) n.616G= n.696G= c.379G= (p.Ala127=) | |
| 9 | g.133352491C>G | CA375693689 | SURF1 | c.706G>C (p.Ala236Pro) n.616G>C n.696G>C c.379G>C (p.Ala127Pro) | |
| 9 | g.133352491C>T | CA200832355 | SURF1 | c.706G>A (p.Ala236Thr) n.616G>A n.696G>A c.379G>A (p.Ala127Thr) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133352492C>A | CA375693691 | SURF1 | c.705G>T (p.Met235Ile) n.615G>T n.695G>T c.378G>T (p.Met126Ile) | gnomAD v4 |
| 9 | g.133352492C>G | CA375693692 | SURF1 | c.705G>C (p.Met235Ile) n.615G>C n.695G>C c.378G>C (p.Met126Ile) | |
| 9 | g.133352492C>T | CA375693693 | SURF1 | c.705G>A (p.Met235Ile) n.615G>A n.695G>A c.378G>A (p.Met126Ile) | |
| 9 | g.133352493A= | CA1882634120 | SURF1 | c.704T= (p.Met235=) n.614T= n.694T= c.377T= (p.Met126=) | |
| 9 | g.133352493A>C | CA375693694 | SURF1 | c.704T>G (p.Met235Arg) n.614T>G n.694T>G c.377T>G (p.Met126Arg) | |
| 9 | g.133352493A>G | CA375693695 | SURF1 | c.704T>C (p.Met235Thr) n.614T>C n.694T>C c.377T>C (p.Met126Thr) | dbSNP gnomAD v4 |
| 9 | g.133352493A>T | CA375693696 | SURF1 | c.704T>A (p.Met235Lys) n.614T>A n.694T>A c.377T>A (p.Met126Lys) | |
| 9 | g.133352494T>A | CA375693697 | SURF1 | c.703A>T (p.Met235Leu) n.613A>T n.693A>T c.376A>T (p.Met126Leu) | |
| 9 | g.133352494T>C | CA375693698 | SURF1 | c.703A>G (p.Met235Val) n.613A>G n.693A>G c.376A>G (p.Met126Val) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133352494T>G | CA200832358 | SURF1 | c.703A>C (p.Met235Leu) n.613A>C n.693A>C c.376A>C (p.Met126Leu) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352494T= | CA1882634122 | SURF1 | c.703A= (p.Met235=) n.613A= n.693A= c.376A= (p.Met126=) | |
| 9 | g.133352495A= | CA1882634126 | SURF1 | c.702T= (p.Ala234=) n.612T= n.692T= c.375T= (p.Ala125=) | |
| 9 | g.133352495A>G | CA860707839 | SURF1 | c.702T>C (p.Ala234=) n.612T>C n.692T>C c.375T>C (p.Ala125=) | dbSNP gnomAD v4 |
| 9 | g.133352496G>A | CA375693699 | SURF1 | c.701C>T (p.Ala234Val) n.611C>T n.691C>T c.374C>T (p.Ala125Val) | |
| 9 | g.133352496G>C | CA375693700 | SURF1 | c.701C>G (p.Ala234Gly) n.611C>G n.691C>G c.374C>G (p.Ala125Gly) | |
| 9 | g.133352496G>T | CA375693701 | SURF1 | c.701C>A (p.Ala234Asp) n.611C>A n.691C>A c.374C>A (p.Ala125Asp) | |
| 9 | g.133352497C>A | CA375693702 | SURF1 | c.700G>T (p.Ala234Ser) n.610G>T n.690G>T c.373G>T (p.Ala125Ser) | |
| 9 | g.133352497C= | CA1882634128 | SURF1 | c.700G= (p.Ala234=) n.610G= n.690G= c.373G= (p.Ala125=) | |
| 9 | g.133352497C>G | CA375693703 | SURF1 | c.700G>C (p.Ala234Pro) n.610G>C n.690G>C c.373G>C (p.Ala125Pro) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352497C>T | CA200832360 | SURF1 | c.700G>A (p.Ala234Thr) n.610G>A n.690G>A c.373G>A (p.Ala125Thr) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352498T>A | CA375693704 | SURF1 | c.699A>T (p.Glu233Asp) n.609A>T n.689A>T c.372A>T (p.Glu124Asp) | |
| 9 | g.133352498T>C | CA1129731698 | SURF1 | c.699A>G (p.Glu233=) n.609A>G n.689A>G c.372A>G (p.Glu124=) | gnomAD v3 gnomAD v4 |
| 9 | g.133352498T>G | CA375693705 | SURF1 | c.699A>C (p.Glu233Asp) n.609A>C n.689A>C c.372A>C (p.Glu124Asp) | |
| 9 | g.133352499T>A | CA375693706 | SURF1 | c.698A>T (p.Glu233Val) n.608A>T n.688A>T c.371A>T (p.Glu124Val) | |
| 9 | g.133352499T>C | CA375693707 | SURF1 | c.698A>G (p.Glu233Gly) n.608A>G n.688A>G c.371A>G (p.Glu124Gly) | |
| 9 | g.133352499T>G | CA375693708 | SURF1 | c.698A>C (p.Glu233Ala) n.608A>C n.688A>C c.371A>C (p.Glu124Ala) | |
| 9 | g.133352500C>A | CA375693710 | SURF1 | c.697G>T (p.Glu233Ter) n.607G>T n.687G>T c.370G>T (p.Glu124Ter) | |
| 9 | g.133352500C= | CA1882634130 | SURF1 | c.697G= (p.Glu233=) n.607G= n.687G= c.370G= (p.Glu124=) | |
| 9 | g.133352500C>G | CA200832364 | SURF1 | c.697G>C (p.Glu233Gln) n.607G>C n.687G>C c.370G>C (p.Glu124Gln) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352500C>T | CA375693709 | SURF1 | c.697G>A (p.Glu233Lys) n.607G>A n.687G>A c.370G>A (p.Glu124Lys) | |
| 9 | g.133352501C>T | CA2692339039 | SURF1 | c.696G>A (p.Leu232=) n.606G>A n.686G>A c.369G>A (p.Leu123=) | gnomAD v4 |
| 9 | g.133352502A>C | CA375693711 | SURF1 | c.695T>G (p.Leu232Arg) n.605T>G n.685T>G c.368T>G (p.Leu123Arg) | |
| 9 | g.133352502A>G | CA375693713 | SURF1 | c.695T>C (p.Leu232Pro) n.605T>C n.685T>C c.368T>C (p.Leu123Pro) | gnomAD v4 |
| 9 | g.133352502A>T | CA375693712 | SURF1 | c.695T>A (p.Leu232Gln) n.605T>A n.685T>A c.368T>A (p.Leu123Gln) | |
| 9 | g.133352503G>A | CA200832365 | SURF1 | c.694C>T (p.Leu232=) n.604C>T n.684C>T c.367C>T (p.Leu123=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352503G>C | CA375693714 | SURF1 | c.694C>G (p.Leu232Val) n.604C>G n.684C>G c.367C>G (p.Leu123Val) | |
| 9 | g.133352503G= | CA1882634132 | SURF1 | c.694C= (p.Leu232=) n.604C= n.684C= c.367C= (p.Leu123=) | |
| 9 | g.133352503G>T | CA375693715 | SURF1 | c.694C>A (p.Leu232Met) n.604C>A n.684C>A c.367C>A (p.Leu123Met) | |
| 9 | g.133352506_133352523del | CA2695211588 | SURF1 | c.677_694del (p.His226_Asp231del) n.587_604del n.667_684del c.350_367del (p.His117_Asp122del) | |
| 9 | g.133352504G>A | CA860707863 | SURF1 | c.693C>T (p.Asp231=) n.603C>T n.683C>T c.366C>T (p.Asp122=) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133352504G>C | CA200832368 | SURF1 | c.693C>G (p.Asp231Glu) n.603C>G n.683C>G c.366C>G (p.Asp122Glu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352504G= | CA1882634136 | SURF1 | c.693C= (p.Asp231=) n.603C= n.683C= c.366C= (p.Asp122=) | |
| 9 | g.133352504G>T | CA375693716 | SURF1 | c.693C>A (p.Asp231Glu) n.603C>A n.683C>A c.366C>A (p.Asp122Glu) | |
| 9 | g.133352505T>A | CA375693717 | SURF1 | c.692A>T (p.Asp231Val) n.602A>T n.682A>T c.365A>T (p.Asp122Val) | |
| 9 | g.133352505T>C | CA375693718 | SURF1 | c.692A>G (p.Asp231Gly) n.602A>G n.682A>G c.365A>G (p.Asp122Gly) | ClinVar gnomAD v4 |
| 9 | g.133352505T>G | CA375693719 | SURF1 | c.692A>C (p.Asp231Ala) n.602A>C n.682A>C c.365A>C (p.Asp122Ala) | |
| 9 | g.133352506C>A | CA375693720 | SURF1 | c.691G>T (p.Asp231Tyr) n.601G>T n.681G>T c.364G>T (p.Asp122Tyr) | |
| 9 | g.133352506C>G | CA375693721 | SURF1 | c.691G>C (p.Asp231His) n.601G>C n.681G>C c.364G>C (p.Asp122His) | |
| 9 | g.133352506C>T | CA375693722 | SURF1 | c.691G>A (p.Asp231Asn) n.601G>A n.681G>A c.364G>A (p.Asp122Asn) | |
| 9 | g.133352508C>A | CA375693725 | SURF1 | c.689G>T (p.Arg230Leu) n.599G>T n.679G>T c.362G>T (p.Arg121Leu) | |
| 9 | g.133352508C= | CA1882634140 | SURF1 | c.689G= (p.Arg230=) n.599G= n.679G= c.362G= (p.Arg121=) | |
| 9 | g.133352508C>G | CA375693723 | SURF1 | c.689G>C (p.Arg230Pro) n.599G>C n.679G>C c.362G>C (p.Arg121Pro) | dbSNP |
| 9 | g.133352508C>T | CA375693724 | SURF1 | c.689G>A (p.Arg230Gln) n.599G>A n.679G>A c.362G>A (p.Arg121Gln) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352509G>A | CA10603164 | SURF1 | c.688C>T (p.Arg230Ter) n.598C>T n.678C>T c.361C>T (p.Arg121Ter) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352509G>C | CA375693726 | SURF1 | c.688C>G (p.Arg230Gly) n.598C>G n.678C>G c.361C>G (p.Arg121Gly) | |
| 9 | g.133352509G= | CA1882634144 | SURF1 | c.688C= (p.Arg230=) n.598C= n.678C= c.361C= (p.Arg121=) | |
| 9 | g.133352509G>T | CA2786166145 | SURF1 | c.688C>A (p.Arg230=) n.598C>A n.678C>A c.361C>A (p.Arg121=) | |
| 9 | g.133352509_133352511del | CA2692339062 | SURF1 | c.686_688del (p.Tyr229Ter) n.596_598del n.676_678del c.359_361del (p.Tyr120Ter) | gnomAD v4 |
| 9 | g.133352509_133352515del | CA2695211589 | SURF1 | c.682_688del (p.His228GlufsTer?) n.592_598del n.672_678del c.355_361del (p.His119GlufsTer?) | |
| 9 | g.133352510A= | CA1882634149 | SURF1 | c.687T= (p.Tyr229=) n.597T= n.677T= c.360T= (p.Tyr120=) | |
| 9 | g.133352510A>C | CA375693727 | SURF1 | c.687T>G (p.Tyr229Ter) n.597T>G n.677T>G c.360T>G (p.Tyr120Ter) | |
| 9 | g.133352510A>G | CA200832370 | SURF1 | c.687T>C (p.Tyr229=) n.597T>C n.677T>C c.360T>C (p.Tyr120=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352510A>T | CA375693728 | SURF1 | c.687T>A (p.Tyr229Ter) n.597T>A n.677T>A c.360T>A (p.Tyr120Ter) | |
| 9 | g.133352512_133352514del | CA2692339066 | SURF1 | c.685_687del (p.Tyr229del) n.595_597del n.675_677del c.358_360del (p.Tyr120del) | gnomAD v4 |
| 9 | g.133352511T>A | CA375693729 | SURF1 | c.686A>T (p.Tyr229Phe) n.596A>T n.676A>T c.359A>T (p.Tyr120Phe) | |
| 9 | g.133352511T>C | CA375693730 | SURF1 | c.686A>G (p.Tyr229Cys) n.596A>G n.676A>G c.359A>G (p.Tyr120Cys) | |
| 9 | g.133352511T>G | CA375693731 | SURF1 | c.686A>C (p.Tyr229Ser) n.596A>C n.676A>C c.359A>C (p.Tyr120Ser) | |
| 9 | g.133352512A>C | CA375693732 | SURF1 | c.685T>G (p.Tyr229Asp) n.595T>G n.675T>G c.358T>G (p.Tyr120Asp) | |
| 9 | g.133352512A>G | CA375693733 | SURF1 | c.685T>C (p.Tyr229His) n.595T>C n.675T>C c.358T>C (p.Tyr120His) | |
| 9 | g.133352512A>T | CA375693734 | SURF1 | c.685T>A (p.Tyr229Asn) n.595T>A n.675T>A c.358T>A (p.Tyr120Asn) | |
| 9 | g.133352513A>C | CA375693736 | SURF1 | c.684T>G (p.His228Gln) n.594T>G n.674T>G c.357T>G (p.His119Gln) | COSMIC |
| 9 | g.133352513A>T | CA375693735 | SURF1 | c.684T>A (p.His228Gln) n.594T>A n.674T>A c.357T>A (p.His119Gln) | ClinVar |
| 9 | g.133352514T>A | CA375693737 | SURF1 | c.683A>T (p.His228Leu) n.593A>T n.673A>T c.356A>T (p.His119Leu) | |
| 9 | g.133352514T>C | CA200832371 | SURF1 | c.683A>G (p.His228Arg) n.593A>G n.673A>G c.356A>G (p.His119Arg) | dbSNP gnomAD v4 |
| 9 | g.133352514T>G | CA375693738 | SURF1 | c.683A>C (p.His228Pro) n.593A>C n.673A>C c.356A>C (p.His119Pro) | |
| 9 | g.133352514T= | CA1882634153 | SURF1 | c.683A= (p.His228=) n.593A= n.673A= c.356A= (p.His119=) | |
| 9 | g.133352515G>A | CA375693739 | SURF1 | c.682C>T (p.His228Tyr) n.592C>T n.672C>T c.355C>T (p.His119Tyr) | |
| 9 | g.133352515G>C | CA375693740 | SURF1 | c.682C>G (p.His228Asp) n.592C>G n.672C>G c.355C>G (p.His119Asp) | |
| 9 | g.133352515G>T | CA375693741 | SURF1 | c.682C>A (p.His228Asn) n.592C>A n.672C>A c.355C>A (p.His119Asn) | |
| 9 | g.133352516C>A | CA375693742 | SURF1 | c.681G>T (p.Trp227Cys) n.591G>T n.671G>T c.354G>T (p.Trp118Cys) | |
| 9 | g.133352516C= | CA1882634157 | SURF1 | c.681G= (p.Trp227=) n.591G= n.671G= c.354G= (p.Trp118=) | |
| 9 | g.133352516C>G | CA375693743 | SURF1 | c.681G>C (p.Trp227Cys) n.591G>C n.671G>C c.354G>C (p.Trp118Cys) | |
| 9 | g.133352516C>T | CA16605403 | SURF1 | c.681G>A (p.Trp227Ter) n.591G>A n.671G>A c.354G>A (p.Trp118Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352517C>A | CA375693744 | SURF1 | c.680G>T (p.Trp227Leu) n.590G>T n.670G>T c.353G>T (p.Trp118Leu) | |
| 9 | g.133352517C>G | CA375693745 | SURF1 | c.680G>C (p.Trp227Ser) n.590G>C n.670G>C c.353G>C (p.Trp118Ser) | |
| 9 | g.133352517C>T | CA375693746 | SURF1 | c.680G>A (p.Trp227Ter) n.590G>A n.670G>A c.353G>A (p.Trp118Ter) | gnomAD v4 |
| 9 | g.133352518A= | CA1882634161 | SURF1 | c.679T= (p.Trp227=) n.589T= n.669T= c.352T= (p.Trp118=) | |
| 9 | g.133352518A>C | CA375693748 | SURF1 | c.679T>G (p.Trp227Gly) n.589T>G n.669T>G c.352T>G (p.Trp118Gly) | |
| 9 | g.133352518A>G | CA128719 | SURF1 | c.679T>C (p.Trp227Arg) n.589T>C n.669T>C c.352T>C (p.Trp118Arg) | ClinVar dbSNP |
| 9 | g.133352518A>T | CA375693747 | SURF1 | c.679T>A (p.Trp227Arg) n.589T>A n.669T>A c.352T>A (p.Trp118Arg) | ClinVar dbSNP |
| 9 | g.133352519G>A | CA2573144047 | SURF1 | c.678C>T (p.His226=) n.588C>T n.668C>T c.351C>T (p.His117=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352519G>C | CA375693749 | SURF1 | c.678C>G (p.His226Gln) n.588C>G n.668C>G c.351C>G (p.His117Gln) | |
| 9 | g.133352519G>T | CA375693750 | SURF1 | c.678C>A (p.His226Gln) n.588C>A n.668C>A c.351C>A (p.His117Gln) | gnomAD v4 |
| 9 | g.133352520T>A | CA375693751 | SURF1 | c.677A>T (p.His226Leu) n.587A>T n.667A>T c.350A>T (p.His117Leu) | |
| 9 | g.133352520T>C | CA375693752 | SURF1 | c.677A>G (p.His226Arg) n.587A>G n.667A>G c.350A>G (p.His117Arg) | |
| 9 | g.133352520T>G | CA375693753 | SURF1 | c.677A>C (p.His226Pro) n.587A>C n.667A>C c.350A>C (p.His117Pro) | |
| 9 | g.133352521G>A | CA375693754 | SURF1 | c.676C>T (p.His226Tyr) n.586C>T n.666C>T c.349C>T (p.His117Tyr) | gnomAD v4 |
| 9 | g.133352521G>C | CA375693755 | SURF1 | c.676C>G (p.His226Asp) n.586C>G n.666C>G c.349C>G (p.His117Asp) | |
| 9 | g.133352521G>T | CA375693756 | SURF1 | c.676C>A (p.His226Asn) n.586C>A n.666C>A c.349C>A (p.His117Asn) | |
| 9 | g.133352522G>A | CA2692339089 | SURF1 | c.675C>T (p.Asn225=) n.585C>T n.665C>T c.348C>T (p.Asn116=) | gnomAD v4 |
| 9 | g.133352522G>C | CA375693757 | SURF1 | c.675C>G (p.Asn225Lys) n.585C>G n.665C>G c.348C>G (p.Asn116Lys) | |
| 9 | g.133352522G>T | CA375693758 | SURF1 | c.675C>A (p.Asn225Lys) n.585C>A n.665C>A c.348C>A (p.Asn116Lys) | |
| 9 | g.133352523T>A | CA375693759 | SURF1 | c.674A>T (p.Asn225Ile) n.584A>T n.664A>T c.347A>T (p.Asn116Ile) | |
| 9 | g.133352523T>C | CA375693760 | SURF1 | c.674A>G (p.Asn225Ser) n.584A>G n.664A>G c.347A>G (p.Asn116Ser) | |
| 9 | g.133352523T>G | CA375693761 | SURF1 | c.674A>C (p.Asn225Thr) n.584A>C n.664A>C c.347A>C (p.Asn116Thr) | |
| 9 | g.133352524T>A | CA375693763 | SURF1 | c.673A>T (p.Asn225Tyr) n.583A>T n.663A>T c.346A>T (p.Asn116Tyr) | |
| 9 | g.133352524T>C | CA375693764 | SURF1 | c.673A>G (p.Asn225Asp) n.583A>G n.663A>G c.346A>G (p.Asn116Asp) | |
| 9 | g.133352524T>G | CA375693762 | SURF1 | c.673A>C (p.Asn225His) n.583A>C n.663A>C c.346A>C (p.Asn116His) | |
| 9 | g.133352525C>A | CA375693766 | SURF1 | c.672G>T (p.Arg224Ser) n.582G>T n.662G>T c.345G>T (p.Arg115Ser) | |
| 9 | g.133352525C>G | CA375693765 | SURF1 | c.672G>C (p.Arg224Ser) n.582G>C n.662G>C c.345G>C (p.Arg115Ser) | |
| 9 | g.133352525C>T | CA2579498334 | SURF1 | c.672G>A (p.Arg224=) n.582G>A n.662G>A c.345G>A (p.Arg115=) | |
| 9 | g.133352526C>A | CA375693767 | SURF1 | c.671G>T (p.Arg224Met) n.581G>T n.661G>T c.344G>T (p.Arg115Met) | |
| 9 | g.133352526C>G | CA375693768 | SURF1 | c.671G>C (p.Arg224Thr) n.581G>C n.661G>C c.344G>C (p.Arg115Thr) | |
| 9 | g.133352526C>T | CA375693769 | SURF1 | c.671G>A (p.Arg224Lys) n.581G>A n.661G>A c.344G>A (p.Arg115Lys) | |
| 9 | g.133352527T>A | CA375693770 | SURF1 | c.670A>T (p.Arg224Trp) n.580A>T n.660A>T c.343A>T (p.Arg115Trp) | |
| 9 | g.133352527T>C | CA200832375 | SURF1 | c.670A>G (p.Arg224Gly) n.580A>G n.660A>G c.343A>G (p.Arg115Gly) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133352527T= | CA1882634166 | SURF1 | c.670A= (p.Arg224=) n.580A= n.660A= c.343A= (p.Arg115=) | |
| 9 | g.133352528T>A | CA375693772 | SURF1 | c.669A>T (p.Glu223Asp) n.579A>T n.659A>T c.342A>T (p.Glu114Asp) | |
| 9 | g.133352528T>G | CA375693771 | SURF1 | c.669A>C (p.Glu223Asp) n.579A>C n.659A>C c.342A>C (p.Glu114Asp) | gnomAD v4 |