| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133352453_133352474delinsGGCATCAATGAAGATGGGCTCT | CA1882634023 | SURF1 | c.723_744delinsAGAGCCCATCTTCATTGATGCC (p.Ala241=) n.633_654delinsAGAGCCCATCTTCATTGATGCC n.713_734delinsAGAGCCCATCTTCATTGATGCC c.396_417delinsAGAGCCCATCTTCATTGATGCC (p.Ala132=) | |
| 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.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) | ClinVar 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) | ClinVar 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 |
| 9 | g.133352529T>A | CA375693773 | SURF1 | c.668A>T (p.Glu223Val) n.578A>T n.658A>T c.341A>T (p.Glu114Val) | |
| 9 | g.133352529T>C | CA200832378 | SURF1 | c.668A>G (p.Glu223Gly) n.578A>G n.658A>G c.341A>G (p.Glu114Gly) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352529T>G | CA375693774 | SURF1 | c.668A>C (p.Glu223Ala) n.578A>C n.658A>C c.341A>C (p.Glu114Ala) | |
| 9 | g.133352529T= | CA1882634168 | SURF1 | c.668A= (p.Glu223=) n.578A= n.658A= c.341A= (p.Glu114=) | |
| 9 | g.133352530C>A | CA375693775 | SURF1 | c.667G>T (p.Glu223Ter) n.577G>T n.657G>T c.340G>T (p.Glu114Ter) | |
| 9 | g.133352530C>G | CA375693776 | SURF1 | c.667G>C (p.Glu223Gln) n.577G>C n.657G>C c.340G>C (p.Glu114Gln) | |
| 9 | g.133352530C>T | CA375693777 | SURF1 | c.667G>A (p.Glu223Lys) n.577G>A n.657G>A c.340G>A (p.Glu114Lys) | |
| 9 | g.133352532G>A | CA375693780 | SURF1 | c.665C>T (p.Pro222Leu) n.575C>T n.655C>T c.338C>T (p.Pro113Leu) | ClinVar gnomAD v4 |
| 9 | g.133352532G>C | CA375693778 | SURF1 | c.665C>G (p.Pro222Arg) n.575C>G n.655C>G c.338C>G (p.Pro113Arg) | ClinVar gnomAD v4 |
| 9 | g.133352532G>T | CA375693779 | SURF1 | c.665C>A (p.Pro222Gln) n.575C>A n.655C>A c.338C>A (p.Pro113Gln) | |
| 9 | g.133352533G>A | CA375693781 | SURF1 | c.664C>T (p.Pro222Ser) n.574C>T n.654C>T c.337C>T (p.Pro113Ser) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133352533G>C | CA375693782 | SURF1 | c.664C>G (p.Pro222Ala) n.574C>G n.654C>G c.337C>G (p.Pro113Ala) | gnomAD v4 |
| 9 | g.133352533G= | CA1882634171 | SURF1 | c.664C= (p.Pro222=) n.574C= n.654C= c.337C= (p.Pro113=) | |
| 9 | g.133352533G>T | CA375693783 | SURF1 | c.664C>A (p.Pro222Thr) n.574C>A n.654C>A c.337C>A (p.Pro113Thr) | gnomAD v4 |
| 9 | g.133352534A= | CA1882634172 | SURF1 | c.663T= (p.Asn221=) n.573T= n.653T= c.336T= (p.Asn112=) | |
| 9 | g.133352534A>C | CA375693784 | SURF1 | c.663T>G (p.Asn221Lys) n.573T>G n.653T>G c.336T>G (p.Asn112Lys) | dbSNP gnomAD v4 |
| 9 | g.133352534A>T | CA375693785 | SURF1 | c.663T>A (p.Asn221Lys) n.573T>A n.653T>A c.336T>A (p.Asn112Lys) | |
| 9 | g.133352535T>A | CA375693786 | SURF1 | c.662A>T (p.Asn221Ile) n.572A>T n.652A>T c.335A>T (p.Asn112Ile) | |
| 9 | g.133352535T>C | CA375693787 | SURF1 | c.662A>G (p.Asn221Ser) n.572A>G n.652A>G c.335A>G (p.Asn112Ser) | gnomAD v4 |
| 9 | g.133352535T>G | CA375693788 | SURF1 | c.662A>C (p.Asn221Thr) n.572A>C n.652A>C c.335A>C (p.Asn112Thr) | |
| 9 | g.133352536T>A | CA375693789 | SURF1 | c.661A>T (p.Asn221Tyr) n.571A>T n.651A>T c.334A>T (p.Asn112Tyr) | |
| 9 | g.133352536T>C | CA375693790 | SURF1 | c.661A>G (p.Asn221Asp) n.571A>G n.651A>G c.334A>G (p.Asn112Asp) | ClinVar gnomAD v4 |
| 9 | g.133352536T>G | CA375693791 | SURF1 | c.661A>C (p.Asn221His) n.571A>C n.651A>C c.334A>C (p.Asn112His) | |
| 9 | g.133352537G>A | CA2550311936 | SURF1 | c.660C>T (p.Asn220=) n.570C>T n.650C>T c.333C>T (p.Asn111=) | gnomAD v4 |
| 9 | g.133352537G>C | CA375693792 | SURF1 | c.660C>G (p.Asn220Lys) n.570C>G n.650C>G c.333C>G (p.Asn111Lys) | |
| 9 | g.133352537G>T | CA375693793 | SURF1 | c.660C>A (p.Asn220Lys) n.570C>A n.650C>A c.333C>A (p.Asn111Lys) | |
| 9 | g.133352538T>A | CA375693794 | SURF1 | c.659A>T (p.Asn220Ile) n.569A>T n.649A>T c.332A>T (p.Asn111Ile) | |
| 9 | g.133352538T>C | CA375693796 | SURF1 | c.659A>G (p.Asn220Ser) n.569A>G n.649A>G c.332A>G (p.Asn111Ser) | |
| 9 | g.133352538T>G | CA375693795 | SURF1 | c.659A>C (p.Asn220Thr) n.569A>C n.649A>C c.332A>C (p.Asn111Thr) | |
| 9 | g.133352539T>A | CA375693797 | SURF1 | c.658A>T (p.Asn220Tyr) n.568A>T n.648A>T c.331A>T (p.Asn111Tyr) | |
| 9 | g.133352539T>C | CA375693798 | SURF1 | c.658A>G (p.Asn220Asp) n.568A>G n.648A>G c.331A>G (p.Asn111Asp) | |
| 9 | g.133352539T>G | CA375693799 | SURF1 | c.658A>C (p.Asn220His) n.568A>C n.648A>C c.331A>C (p.Asn111His) | |
| 9 | g.133352541_133352542del | CA2695211590 | SURF1 | c.657_658del (p.Asn220GlnfsTer27) n.567_568del n.647_648del c.330_331del (p.Asn111GlnfsTer27) | ClinVar |
| 9 | g.133352540del | CA2786166146 | SURF1 | c.657del (p.Asn220ThrfsTer?) n.567del n.647del c.330del (p.Asn111ThrfsTer?) | |
| 9 | g.133352540C>A | CA375693800 | SURF1 | c.657G>T (p.Glu219Asp) n.567G>T n.647G>T c.330G>T (p.Glu110Asp) | |
| 9 | g.133352540C= | CA1882634175 | SURF1 | c.657G= (p.Glu219=) n.567G= n.647G= c.330G= (p.Glu110=) | |
| 9 | g.133352540C>G | CA375693801 | SURF1 | c.657G>C (p.Glu219Asp) n.567G>C n.647G>C c.330G>C (p.Glu110Asp) | ClinVar gnomAD v4 |
| 9 | g.133352540C>T | CA16605407 | SURF1 | c.657G>A (p.Glu219=) n.567G>A n.647G>A c.330G>A (p.Glu110=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352541T>A | CA375693802 | SURF1 | c.656A>T (p.Glu219Val) n.566A>T n.646A>T c.329A>T (p.Glu110Val) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352541T>C | CA375693803 | SURF1 | c.656A>G (p.Glu219Gly) n.566A>G n.646A>G c.329A>G (p.Glu110Gly) | |
| 9 | g.133352541T>G | CA375693804 | SURF1 | c.656A>C (p.Glu219Ala) n.566A>C n.646A>C c.329A>C (p.Glu110Ala) | |
| 9 | g.133352541T= | CA1882634179 | SURF1 | c.656A= (p.Glu219=) n.566A= n.646A= c.329A= (p.Glu110=) | |
| 9 | g.133352542C>A | CA375693805 | SURF1 | c.655G>T (p.Glu219Ter) n.565G>T n.645G>T c.328G>T (p.Glu110Ter) | |
| 9 | g.133352542C= | CA1882634184 | SURF1 | c.655G= (p.Glu219=) n.565G= n.645G= c.328G= (p.Glu110=) | |
| 9 | g.133352542C>G | CA375693806 | SURF1 | c.655G>C (p.Glu219Gln) n.565G>C n.645G>C c.328G>C (p.Glu110Gln) | ClinVar |
| 9 | g.133352542C>T | CA375693807 | SURF1 | c.655G>A (p.Glu219Lys) n.565G>A n.645G>A c.328G>A (p.Glu110Lys) | dbSNP gnomAD v4 |
| 9 | g.133352542_133352544delinsCAG | CA1882634182 | SURF1 | c.653_655delinsCTG (p.Pro218=) n.563_565delinsCTG n.643_645delinsCTG c.326_328delinsCTG (p.Pro109=) | |
| 9 | g.133352543A= | CA1882634186 | SURF1 | c.654T= (p.Pro218=) n.564T= n.644T= c.327T= (p.Pro109=) | |
| 9 | g.133352543A>C | CA2507646506 | SURF1 | c.654T>G (p.Pro218=) n.564T>G n.644T>G c.327T>G (p.Pro109=) | |
| 9 | g.133352543A>G | CA1882634188 | SURF1 | c.654T>C (p.Pro218=) n.564T>C n.644T>C c.327T>C (p.Pro109=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352543_133352544del | CA860707959 | SURF1 | c.653_654del (p.Pro218ArgfsTer29) n.563_564del n.643_644del c.326_327del (p.Pro109ArgfsTer29) | dbSNP gnomAD v4 |
| 9 | g.133352544G>A | CA375693810 | SURF1 | c.653C>T (p.Pro218Leu) n.563C>T n.643C>T c.326C>T (p.Pro109Leu) | dbSNP gnomAD v4 |
| 9 | g.133352544G>C | CA375693809 | SURF1 | c.653C>G (p.Pro218Arg) n.563C>G n.643C>G c.326C>G (p.Pro109Arg) | |
| 9 | g.133352544G= | CA1882634190 | SURF1 | c.653C= (p.Pro218=) n.563C= n.643C= c.326C= (p.Pro109=) | |
| 9 | g.133352544G>T | CA375693808 | SURF1 | c.653C>A (p.Pro218His) n.563C>A n.643C>A c.326C>A (p.Pro109His) | |
| 9 | g.133352545G>A | CA375693811 | SURF1 | c.652C>T (p.Pro218Ser) n.562C>T n.642C>T c.325C>T (p.Pro109Ser) | |
| 9 | g.133352545G>C | CA375693812 | SURF1 | c.652C>G (p.Pro218Ala) n.562C>G n.642C>G c.325C>G (p.Pro109Ala) | |
| 9 | g.133352545G>T | CA375693813 | SURF1 | c.652C>A (p.Pro218Thr) n.562C>A n.642C>A c.325C>A (p.Pro109Thr) | |
| 9 | g.133352546G>A | CA200832380 | SURF1 | c.651C>T (p.Val217=) n.561C>T n.641C>T c.324C>T (p.Val108=) | dbSNP gnomAD v4 |
| 9 | g.133352546G= | CA1882634193 | SURF1 | c.651C= (p.Val217=) n.561C= n.641C= c.324C= (p.Val108=) | |
| 9 | g.133352547A= | CA1882634196 | SURF1 | c.650T= (p.Val217=) n.560T= n.640T= c.323T= (p.Val108=) | |
| 9 | g.133352547A>C | CA375693814 | SURF1 | c.650T>G (p.Val217Gly) n.560T>G n.640T>G c.323T>G (p.Val108Gly) | |
| 9 | g.133352547A>G | CA200832382 | SURF1 | c.650T>C (p.Val217Ala) n.560T>C n.640T>C c.323T>C (p.Val108Ala) | dbSNP |
| 9 | g.133352547A>T | CA375693815 | SURF1 | c.650T>A (p.Val217Asp) n.560T>A n.640T>A c.323T>A (p.Val108Asp) | |
| 9 | g.133352548C>A | CA375693816 | SURF1 | c.649G>T (p.Val217Phe) n.559G>T n.639G>T c.322G>T (p.Val108Phe) | |
| 9 | g.133352548C= | CA1882634199 | SURF1 | c.649G= (p.Val217=) n.559G= n.639G= c.322G= (p.Val108=) | |
| 9 | g.133352548C>G | CA375693817 | SURF1 | c.649G>C (p.Val217Leu) n.559G>C n.639G>C c.322G>C (p.Val108Leu) | |
| 9 | g.133352548C>T | CA375693818 | SURF1 | c.649G>A (p.Val217Ile) n.559G>A n.639G>A c.322G>A (p.Val108Ile) | ClinVar dbSNP |
| 9 | g.133352549A>C | CA375693819 | SURF1 | c.648T>G (p.Phe216Leu) n.558T>G n.638T>G c.321T>G (p.Phe107Leu) | |
| 9 | g.133352549A>G | CA2739265142 | SURF1 | c.648T>C (p.Phe216=) n.558T>C n.638T>C c.321T>C (p.Phe107=) | ClinVar |
| 9 | g.133352549A>T | CA375693820 | SURF1 | c.648T>A (p.Phe216Leu) n.558T>A n.638T>A c.321T>A (p.Phe107Leu) | |
| 9 | g.133352550A>C | CA375693823 | SURF1 | c.647T>G (p.Phe216Cys) n.557T>G n.637T>G c.320T>G (p.Phe107Cys) | |
| 9 | g.133352550A>G | CA375693822 | SURF1 | c.647T>C (p.Phe216Ser) n.557T>C n.637T>C c.320T>C (p.Phe107Ser) | gnomAD v4 COSMIC |
| 9 | g.133352550A>T | CA375693821 | SURF1 | c.647T>A (p.Phe216Tyr) n.557T>A n.637T>A c.320T>A (p.Phe107Tyr) | |
| 9 | g.133352551A>C | CA375693824 | SURF1 | c.646T>G (p.Phe216Val) n.556T>G n.636T>G c.319T>G (p.Phe107Val) | |
| 9 | g.133352551A>G | CA375693826 | SURF1 | c.646T>C (p.Phe216Leu) n.556T>C n.636T>C c.319T>C (p.Phe107Leu) | |
| 9 | g.133352551A>T | CA375693825 | SURF1 | c.646T>A (p.Phe216Ile) n.556T>A n.636T>A c.319T>A (p.Phe107Ile) | |
| 9 | g.133352552A>G | CA2533655184 | SURF1 | c.645T>C (p.Pro215=) n.555T>C n.635T>C c.318T>C (p.Pro106=) | |
| 9 | g.133352552A>T | CA2692339155 | SURF1 | c.645T>A (p.Pro215=) n.555T>A n.635T>A c.318T>A (p.Pro106=) | gnomAD v4 |
| 9 | g.133352553G>A | CA200832385 | SURF1 | c.644C>T (p.Pro215Leu) n.554C>T n.634C>T c.317C>T (p.Pro106Leu) | dbSNP gnomAD v4 |
| 9 | g.133352553G>C | CA375693827 | SURF1 | c.644C>G (p.Pro215Arg) n.554C>G n.634C>G c.317C>G (p.Pro106Arg) | |
| 9 | g.133352553G= | CA1882634201 | SURF1 | c.644C= (p.Pro215=) n.554C= n.634C= c.317C= (p.Pro106=) | |
| 9 | g.133352553G>T | CA375693828 | SURF1 | c.644C>A (p.Pro215His) n.554C>A n.634C>A c.317C>A (p.Pro106His) | |
| 9 | g.133352554G>A | CA375693829 | SURF1 | c.643C>T (p.Pro215Ser) n.553C>T n.633C>T c.316C>T (p.Pro106Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352554G>C | CA10629367 | SURF1 | c.643C>G (p.Pro215Ala) n.553C>G n.633C>G c.316C>G (p.Pro106Ala) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352554G= | CA1882634209 | SURF1 | c.643C= (p.Pro215=) n.553C= n.633C= c.316C= (p.Pro106=) | |
| 9 | g.133352554G>T | CA375693830 | SURF1 | c.643C>A (p.Pro215Thr) n.553C>A n.633C>A c.316C>A (p.Pro106Thr) | dbSNP gnomAD v4 |
| 9 | g.133352556_133352558del | CA2573144048 | SURF1 | c.641_643del (p.Gln214del) n.551_553del n.631_633del c.314_316del (p.Gln105del) | ClinVar dbSNP |
| 9 | g.133352554_133352565delinsGCTGCCTGGTTT | CA1882634205 | SURF1 | c.632_643delinsAAACCAGGCAGC (p.Glu211=) n.542_553delinsAAACCAGGCAGC n.622_633delinsAAACCAGGCAGC c.305_316delinsAAACCAGGCAGC (p.Glu102=) | |
| 9 | g.133352555C>A | CA375693831 | SURF1 | c.642G>T (p.Gln214His) n.552G>T n.632G>T c.315G>T (p.Gln105His) | COSMIC |
| 9 | g.133352555C>G | CA375693832 | SURF1 | c.642G>C (p.Gln214His) n.552G>C n.632G>C c.315G>C (p.Gln105His) | |
| 9 | g.133352558_133352568del | CA200832387 | SURF1 | c.632_642del (p.Glu211AlafsTer5) n.542_552del n.622_632del c.305_315del (p.Glu102AlafsTer5) | ClinVar dbSNP dbSNP |
| 9 | g.133352556T>A | CA375693833 | SURF1 | c.641A>T (p.Gln214Leu) n.551A>T n.631A>T c.314A>T (p.Gln105Leu) | |
| 9 | g.133352556T>C | CA200832390 | SURF1 | c.641A>G (p.Gln214Arg) n.551A>G n.631A>G c.314A>G (p.Gln105Arg) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352556T>G | CA375693834 | SURF1 | c.641A>C (p.Gln214Pro) n.551A>C n.631A>C c.314A>C (p.Gln105Pro) | |
| 9 | g.133352556T= | CA1882634213 | SURF1 | c.641A= (p.Gln214=) n.551A= n.631A= c.314A= (p.Gln105=) | |
| 9 | g.133352557G>A | CA375693835 | SURF1 | c.640C>T (p.Gln214Ter) n.550C>T n.630C>T c.313C>T (p.Gln105Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133352557G>C | CA375693837 | SURF1 | c.640C>G (p.Gln214Glu) n.550C>G n.630C>G c.313C>G (p.Gln105Glu) | |
| 9 | g.133352557G>T | CA375693836 | SURF1 | c.640C>A (p.Gln214Lys) n.550C>A n.630C>A c.313C>A (p.Gln105Lys) | COSMIC |
| 9 | g.133352558C>A | CA375693838 | SURF1 | c.639G>T (p.Arg213Ser) n.549G>T n.629G>T c.312G>T (p.Arg104Ser) | |
| 9 | g.133352558C>G | CA375693839 | SURF1 | c.639G>C (p.Arg213Ser) n.549G>C n.629G>C c.312G>C (p.Arg104Ser) | |
| 9 | g.133352558C>T | CA2692339177 | SURF1 | c.639G>A (p.Arg213=) n.549G>A n.629G>A c.312G>A (p.Arg104=) | ClinVar gnomAD v4 |
| 9 | g.133352559C>A | CA375693840 | SURF1 | c.638G>T (p.Arg213Met) n.548G>T n.628G>T c.311G>T (p.Arg104Met) | |
| 9 | g.133352559C= | CA1882634215 | SURF1 | c.638G= (p.Arg213=) n.548G= n.628G= c.311G= (p.Arg104=) | |
| 9 | g.133352559C>G | CA375693841 | SURF1 | c.638G>C (p.Arg213Thr) n.548G>C n.628G>C c.311G>C (p.Arg104Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352559C>T | CA375693842 | SURF1 | c.638G>A (p.Arg213Lys) n.548G>A n.628G>A c.311G>A (p.Arg104Lys) | gnomAD v4 |
| 9 | g.133352560T>A | CA375693843 | SURF1 | c.637A>T (p.Arg213Trp) n.547A>T n.627A>T c.310A>T (p.Arg104Trp) | |
| 9 | g.133352560T>C | CA375693844 | SURF1 | c.637A>G (p.Arg213Gly) n.547A>G n.627A>G c.310A>G (p.Arg104Gly) | gnomAD v4 |
| 9 | g.133352560T>G | CA2523467952 | SURF1 | c.637A>C (p.Arg213=) n.547A>C n.627A>C c.310A>C (p.Arg104=) | |
| 9 | g.133352561G>A | CA860708021 | SURF1 | c.636C>T (p.Thr212=) n.546C>T n.626C>T c.309C>T (p.Thr103=) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133352561G>C | CA1882634219 | SURF1 | c.636C>G (p.Thr212=) n.546C>G n.626C>G c.309C>G (p.Thr103=) | dbSNP |
| 9 | g.133352561G= | CA1882634218 | SURF1 | c.636C= (p.Thr212=) n.546C= n.626C= c.309C= (p.Thr103=) | |
| 9 | g.133352562del | CA2695211591 | SURF1 | c.636del (p.Arg213GlyfsTer?) n.546del n.626del c.309del (p.Arg104GlyfsTer?) | |
| 9 | g.133352562G>A | CA375693845 | SURF1 | c.635C>T (p.Thr212Ile) n.545C>T n.625C>T c.308C>T (p.Thr103Ile) | |
| 9 | g.133352562G>C | CA375693846 | SURF1 | c.635C>G (p.Thr212Ser) n.545C>G n.625C>G c.308C>G (p.Thr103Ser) | gnomAD v4 |
| 9 | g.133352562G>T | CA375693847 | SURF1 | c.635C>A (p.Thr212Asn) n.545C>A n.625C>A c.308C>A (p.Thr103Asn) | |
| 9 | g.133352563T>A | CA375693849 | SURF1 | c.634A>T (p.Thr212Ser) n.544A>T n.624A>T c.307A>T (p.Thr103Ser) | |
| 9 | g.133352563T>C | CA375693850 | SURF1 | c.634A>G (p.Thr212Ala) n.544A>G n.624A>G c.307A>G (p.Thr103Ala) | gnomAD v4 |
| 9 | g.133352563T>G | CA375693848 | SURF1 | c.634A>C (p.Thr212Pro) n.544A>C n.624A>C c.307A>C (p.Thr103Pro) |