| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133351969_133351971delinsCAG | CA1882632902 | SURF1 | c.845_847delinsCTG (p.Ser282=) n.755_757delinsCTG n.835_837delinsCTG c.518_520delinsCTG (p.Ser173=) | |
| 9 | g.133351970A= | CA1882632910 | SURF1 | c.846T= (p.Ser282=) n.756T= n.836T= c.519T= (p.Ser173=) | |
| 9 | g.133351970A>G | CA200831934 | SURF1 | c.846T>C (p.Ser282=) n.756T>C n.836T>C c.519T>C (p.Ser173=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351974_133351975del | CA212943 | SURF1 | c.845_846del (p.Ser282CysfsTer9) n.755_756del n.835_836del c.518_519del (p.Ser173CysfsTer9) | dbSNP dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.133351971G>A | CA200831936 | SURF1 | c.845C>T (p.Ser282Phe) n.755C>T n.835C>T c.518C>T (p.Ser173Phe) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351971G>C | CA375693394 | SURF1 | c.845C>G (p.Ser282Cys) n.755C>G n.835C>G c.518C>G (p.Ser173Cys) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133351971G= | CA1882632913 | SURF1 | c.845C= (p.Ser282=) n.755C= n.835C= c.518C= (p.Ser173=) | |
| 9 | g.133351971G>T | CA375693393 | SURF1 | c.845C>A (p.Ser282Tyr) n.755C>A n.835C>A c.518C>A (p.Ser173Tyr) | |
| 9 | g.133351972del | CA2692367988 | SURF1 | c.844del (p.Ser282LeufsTer?) n.754del n.834del c.517del (p.Ser173LeufsTer?) | gnomAD v4 |
| 9 | g.133351972A= | CA1882632916 | SURF1 | c.844T= (p.Ser282=) n.754T= n.834T= c.517T= (p.Ser173=) | |
| 9 | g.133351972A>C | CA375693395 | SURF1 | c.844T>G (p.Ser282Ala) n.754T>G n.834T>G c.517T>G (p.Ser173Ala) | |
| 9 | g.133351972A>G | CA375693396 | SURF1 | c.844T>C (p.Ser282Pro) n.754T>C n.834T>C c.517T>C (p.Ser173Pro) | dbSNP gnomAD v4 |
| 9 | g.133351972A>T | CA375693397 | SURF1 | c.844T>A (p.Ser282Thr) n.754T>A n.834T>A c.517T>A (p.Ser173Thr) | |
| 9 | g.133351973G>A | CA2692367992 | SURF1 | c.843C>T (p.Leu281=) n.753C>T n.833C>T c.516C>T (p.Leu172=) | gnomAD v4 |
| 9 | g.133351974A= | CA1882632918 | SURF1 | c.842T= (p.Leu281=) n.752T= n.832T= c.515T= (p.Leu172=) | |
| 9 | g.133351974A>C | CA375693398 | SURF1 | c.842T>G (p.Leu281Arg) n.752T>G n.832T>G c.515T>G (p.Leu172Arg) | ClinVar dbSNP |
| 9 | g.133351974A>G | CA375693399 | SURF1 | c.842T>C (p.Leu281Pro) n.752T>C n.832T>C c.515T>C (p.Leu172Pro) | |
| 9 | g.133351974A>T | CA375693400 | SURF1 | c.842T>A (p.Leu281His) n.752T>A n.832T>A c.515T>A (p.Leu172His) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133351975G>A | CA375693401 | SURF1 | c.841C>T (p.Leu281Phe) n.751C>T n.831C>T c.514C>T (p.Leu172Phe) | dbSNP gnomAD v4 |
| 9 | g.133351975G>C | CA200831939 | SURF1 | c.841C>G (p.Leu281Val) n.751C>G n.831C>G c.514C>G (p.Leu172Val) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351975G= | CA1882632920 | SURF1 | c.841C= (p.Leu281=) n.751C= n.831C= c.514C= (p.Leu172=) | |
| 9 | g.133351975G>T | CA375693402 | SURF1 | c.841C>A (p.Leu281Ile) n.751C>A n.831C>A c.514C>A (p.Leu172Ile) | |
| 9 | g.133351976T= | CA1882632923 | SURF1 | c.840A= (p.Gly280=) n.750A= n.830A= c.513A= (p.Gly171=) | |
| 9 | g.133351977C>A | CA375693404 | SURF1 | c.839G>T (p.Gly280Val) n.749G>T n.829G>T c.512G>T (p.Gly171Val) | |
| 9 | g.133351977C>G | CA375693405 | SURF1 | c.839G>C (p.Gly280Ala) n.749G>C n.829G>C c.512G>C (p.Gly171Ala) | |
| 9 | g.133351977C>T | CA375693403 | SURF1 | c.839G>A (p.Gly280Glu) n.749G>A n.829G>A c.512G>A (p.Gly171Glu) | |
| 9 | g.133351977_133351978dup | CA200831940 | SURF1 | c.838_839dup (p.Leu281AspfsTer?) n.748_749dup n.828_829dup c.511_512dup (p.Leu172AspfsTer?) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351978C>A | CA375693408 | SURF1 | c.838G>T (p.Gly280Ter) n.748G>T n.828G>T c.511G>T (p.Gly171Ter) | |
| 9 | g.133351978C>G | CA375693406 | SURF1 | c.838G>C (p.Gly280Arg) n.748G>C n.828G>C c.511G>C (p.Gly171Arg) | |
| 9 | g.133351978C>T | CA375693407 | SURF1 | c.838G>A (p.Gly280Arg) n.748G>A n.828G>A c.511G>A (p.Gly171Arg) | |
| 9 | g.133351979A= | CA1882632927 | SURF1 | c.837T= (p.Tyr279=) n.747T= n.827T= c.510T= (p.Tyr170=) | |
| 9 | g.133351979A>C | CA375693409 | SURF1 | c.837T>G (p.Tyr279Ter) n.747T>G n.827T>G c.510T>G (p.Tyr170Ter) | gnomAD v4 |
| 9 | g.133351979A>G | CA1882632929 | SURF1 | c.837T>C (p.Tyr279=) n.747T>C n.827T>C c.510T>C (p.Tyr170=) | dbSNP gnomAD v4 |
| 9 | g.133351979A>T | CA375693410 | SURF1 | c.837T>A (p.Tyr279Ter) n.747T>A n.827T>A c.510T>A (p.Tyr170Ter) | |
| 9 | g.133351979_133351983delinsATACC | CA1882632926 | SURF1 | c.834-1_837delinsGGTAT n.744-1_747delinsGGTAT n.824-1_827delinsGGTAT c.507-1_510delinsGGTAT | |
| 9 | g.133351980T>A | CA200831942 | SURF1 | c.836A>T (p.Tyr279Phe) n.746A>T n.826A>T c.509A>T (p.Tyr170Phe) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133351980T>C | CA200831944 | SURF1 | c.836A>G (p.Tyr279Cys) n.746A>G n.826A>G c.509A>G (p.Tyr170Cys) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133351980T>G | CA375693411 | SURF1 | c.836A>C (p.Tyr279Ser) n.746A>C n.826A>C c.509A>C (p.Tyr170Ser) | |
| 9 | g.133351980T= | CA1882632932 | SURF1 | c.836A= (p.Tyr279=) n.746A= n.826A= c.509A= (p.Tyr170=) | |
| 9 | g.133351982_133351985del | CA860706909 | SURF1 | c.834-1_836del n.744-1_746del n.824-1_826del c.507-1_509del | dbSNP gnomAD v4 |
| 9 | g.133351981A>C | CA375693412 | SURF1 | c.835T>G (p.Tyr279Asp) n.745T>G n.825T>G c.508T>G (p.Tyr170Asp) | |
| 9 | g.133351981A>G | CA375693413 | SURF1 | c.835T>C (p.Tyr279His) n.745T>C n.825T>C c.508T>C (p.Tyr170His) | |
| 9 | g.133351981A>T | CA375693414 | SURF1 | c.835T>A (p.Tyr279Asn) n.745T>A n.825T>A c.508T>A (p.Tyr170Asn) | |
| 9 | g.133351982C>A | CA375693415 | SURF1 | c.834G>T (p.Trp278Cys) n.744G>T n.824G>T c.507G>T (p.Trp169Cys) | |
| 9 | g.133351982C= | CA1882632937 | SURF1 | c.834G= (p.Trp278=) n.744G= n.824G= c.507G= (p.Trp169=) | |
| 9 | g.133351982C>G | CA375693416 | SURF1 | c.834G>C (p.Trp278Cys) n.744G>C n.824G>C c.507G>C (p.Trp169Cys) | gnomAD v4 |
| 9 | g.133351982C>T | CA200831946 | SURF1 | c.834G>A (p.Trp278Ter) n.744G>A n.824G>A c.507G>A (p.Trp169Ter) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133351983C>A | CA375693418 | SURF1 | c.834-1G>T (n.834-1G>T) n.744-1G>T n.824-1G>T c.507-1G>T (n.507-1G>T) | |
| 9 | g.133351983C= | CA1882632947 | SURF1 | c.834-1G= (n.834-1G=) n.744-1G= n.824-1G= c.507-1G= (n.507-1G=) | |
| 9 | g.133351983C>G | CA375693417 | SURF1 | c.834-1G>C (n.834-1G>C) n.744-1G>C n.824-1G>C c.507-1G>C (n.507-1G>C) | dbSNP gnomAD v3 gnomAD v4 |