Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.113148999G>A | CA388792154 | F10 | c.949G>A (p.Glu317Lys) c.939G>A (p.Arg313=) c.945G>A (p.Arg315=) c.817G>A (p.Glu273Lys) | COSMIC |
13 | g.113148999G>C | CA388792157 | F10 | c.949G>C (p.Glu317Gln) c.939G>C (p.Arg313Ser) c.945G>C (p.Arg315Ser) c.817G>C (p.Glu273Gln) | |
13 | g.113148999G>T | CA388792156 | F10 | c.949G>T (p.Glu317Ter) c.939G>T (p.Arg313Ser) c.945G>T (p.Arg315Ser) c.817G>T (p.Glu273Ter) | |
13 | g.113149000A>C | CA388792158 | F10 | c.950A>C (p.Glu317Ala) c.940A>C (p.Arg314=) c.946A>C (p.Arg316=) c.818A>C (p.Glu273Ala) | |
13 | g.113149000A>G | CA388792160 | F10 | c.950A>G (p.Glu317Gly) c.940A>G (p.Arg314Gly) c.946A>G (p.Arg316Gly) c.818A>G (p.Glu273Gly) | |
13 | g.113149000A>T | CA388792159 | F10 | c.950A>T (p.Glu317Val) c.940A>T (p.Arg314Ter) c.946A>T (p.Arg316Ter) c.818A>T (p.Glu273Val) | |
13 | g.113149001G>A | CA388792161 | F10 | c.951G>A (p.Glu317=) c.941G>A (p.Arg314Lys) c.947G>A (p.Arg316Lys) c.819G>A (p.Glu273=) | |
13 | g.113149001G>C | CA388792164 | F10 | c.951G>C (p.Glu317Asp) c.941G>C (p.Arg314Thr) c.947G>C (p.Arg316Thr) c.819G>C (p.Glu273Asp) | |
13 | g.113149001G>T | CA388792163 | F10 | c.951G>T (p.Glu317Asp) c.941G>T (p.Arg314Ile) c.947G>T (p.Arg316Ile) c.819G>T (p.Glu273Asp) | gnomAD v4 |
13 | g.113149002A>C | CA388792166 | F10 | c.952A>C (p.Thr318Pro) c.942A>C (p.Arg314Ser) c.948A>C (p.Arg316Ser) c.820A>C (p.Thr274Pro) | |
13 | g.113149002A>G | CA388792171 | F10 | c.952A>G (p.Thr318Ala) c.942A>G (p.Arg314=) c.948A>G (p.Arg316=) c.820A>G (p.Thr274Ala) | |
13 | g.113149002A>T | CA388792168 | F10 | c.952A>T (p.Thr318Ser) c.942A>T (p.Arg314Ser) c.948A>T (p.Arg316Ser) c.820A>T (p.Thr274Ser) | |
13 | g.113149003C>A | CA388792173 | F10 | c.953C>A (p.Thr318Asn) c.943C>A (p.Pro315Thr) c.949C>A (p.Pro317Thr) c.821C>A (p.Thr274Asn) | |
13 | g.113149003C>G | CA388792175 | F10 | c.953C>G (p.Thr318Ser) c.943C>G (p.Pro315Ala) c.949C>G (p.Pro317Ala) c.821C>G (p.Thr274Ser) | gnomAD v4 |
13 | g.113149003C>T | CA388792178 | F10 | c.953C>T (p.Thr318Ile) c.943C>T (p.Pro315Ser) c.949C>T (p.Pro317Ser) c.821C>T (p.Thr274Ile) | |
13 | g.113149004C>A | CA388792180 | F10 | c.954C>A (p.Thr318=) c.944C>A (p.Pro315His) c.950C>A (p.Pro317His) c.822C>A (p.Thr274=) | |
13 | g.113149004C>G | CA388792184 | F10 | c.954C>G (p.Thr318=) c.944C>G (p.Pro315Arg) c.950C>G (p.Pro317Arg) c.822C>G (p.Thr274=) | |
13 | g.113149004C>T | CA388792187 | F10 | c.954C>T (p.Thr318=) c.944C>T (p.Pro315Leu) c.950C>T (p.Pro317Leu) c.822C>T (p.Thr274=) | |
13 | g.113149005T>A | CA388792190 | F10 | c.955T>A (p.Tyr319Asn) c.945T>A (p.Pro315=) c.951T>A (p.Pro317=) c.823T>A (p.Tyr275Asn) | |
13 | g.113149005T>C | CA256478651 | F10 | c.955T>C (p.Tyr319His) c.945T>C (p.Pro315=) c.951T>C (p.Pro317=) c.823T>C (p.Tyr275His) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149005T>G | CA388792193 | F10 | c.955T>G (p.Tyr319Asp) c.945T>G (p.Pro315=) c.951T>G (p.Pro317=) c.823T>G (p.Tyr275Asp) | gnomAD v4 |
13 | g.113149005T= | CA2120139958 | F10 | c.955T= (p.Tyr319=) c.945T= (p.Pro315=) c.951T= (p.Pro317=) c.823T= (p.Tyr275=) | |
13 | g.113149006A>C | CA388792194 | F10 | c.956A>C (p.Tyr319Ser) c.946A>C (p.Met316Leu) c.952A>C (p.Met318Leu) c.824A>C (p.Tyr275Ser) | |
13 | g.113149006A>G | CA388792195 | F10 | c.956A>G (p.Tyr319Cys) c.946A>G (p.Met316Val) c.952A>G (p.Met318Val) c.824A>G (p.Tyr275Cys) | |
13 | g.113149006A>T | CA388792196 | F10 | c.956A>T (p.Tyr319Phe) c.946A>T (p.Met316Leu) c.952A>T (p.Met318Leu) c.824A>T (p.Tyr275Phe) | |
13 | g.113149007T>A | CA388792202 | F10 | c.957T>A (p.Tyr319Ter) c.947T>A (p.Met316Lys) c.953T>A (p.Met318Lys) c.825T>A (p.Tyr275Ter) | |
13 | g.113149007T>C | CA7060646 | F10 | c.957T>C (p.Tyr319=) c.947T>C (p.Met316Thr) c.953T>C (p.Met318Thr) c.825T>C (p.Tyr275=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149007T>G | CA388792197 | F10 | c.957T>G (p.Tyr319Ter) c.947T>G (p.Met316Arg) c.953T>G (p.Met318Arg) c.825T>G (p.Tyr275Ter) | |
13 | g.113149007T= | CA2120139963 | F10 | c.957T= (p.Tyr319=) c.947T= (p.Met316=) c.953T= (p.Met318=) c.825T= (p.Tyr275=) | |
13 | g.113149008G>A | CA388792205 | F10 | c.958G>A (p.Asp320Asn) c.948G>A (p.Met316Ile) c.954G>A (p.Met318Ile) c.826G>A (p.Asp276Asn) | dbSNP |
13 | g.113149008G>C | CA7060647 | F10 | c.958G>C (p.Asp320His) c.948G>C (p.Met316Ile) c.954G>C (p.Met318Ile) c.826G>C (p.Asp276His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149008G= | CA2120139967 | F10 | c.958G= (p.Asp320=) c.948G= (p.Met316=) c.954G= (p.Met318=) c.826G= (p.Asp276=) | |
13 | g.113149008G>T | CA388792208 | F10 | c.958G>T (p.Asp320Tyr) c.948G>T (p.Met316Ile) c.954G>T (p.Met318Ile) c.826G>T (p.Asp276Tyr) | |
13 | g.113149009A>C | CA388792211 | F10 | c.959A>C (p.Asp320Ala) c.949A>C (p.Thr317Pro) c.955A>C (p.Thr319Pro) c.827A>C (p.Asp276Ala) | |
13 | g.113149009A>G | CA388792214 | F10 | c.959A>G (p.Asp320Gly) c.949A>G (p.Thr317Ala) c.955A>G (p.Thr319Ala) c.827A>G (p.Asp276Gly) | |
13 | g.113149009A>T | CA388792217 | F10 | c.959A>T (p.Asp320Val) c.949A>T (p.Thr317Ser) c.955A>T (p.Thr319Ser) c.827A>T (p.Asp276Val) | |
13 | g.113149010C>A | CA388792224 | F10 | c.960C>A (p.Asp320Glu) c.950C>A (p.Thr317Asn) c.956C>A (p.Thr319Asn) c.828C>A (p.Asp276Glu) | |
13 | g.113149010C= | CA2120139975 | F10 | c.960C= (p.Asp320=) c.950C= (p.Thr317=) c.956C= (p.Thr319=) c.828C= (p.Asp276=) | |
13 | g.113149010C>G | CA388792226 | F10 | c.960C>G (p.Asp320Glu) c.950C>G (p.Thr317Ser) c.956C>G (p.Thr319Ser) c.828C>G (p.Asp276Glu) | |
13 | g.113149010C>T | CA7060648 | F10 | c.960C>T (p.Asp320=) c.950C>T (p.Thr317Ile) c.956C>T (p.Thr319Ile) c.828C>T (p.Asp276=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149011_113149021del | CA2575514503 | F10 | c.961_971del (p.Phe321ArgfsTer23) c.951_961del (p.Ser318ValfsTer?) c.957_967del (p.Ser320ValfsTer?) c.829_839del (p.Phe277ArgfsTer23) | gnomAD v4 |
13 | g.113149011T>A | CA7060649 | F10 | c.961T>A (p.Phe321Ile) c.951T>A (p.Thr317=) c.957T>A (p.Thr319=) c.829T>A (p.Phe277Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149011T>C | CA388792237 | F10 | c.961T>C (p.Phe321Leu) c.951T>C (p.Thr317=) c.957T>C (p.Thr319=) c.829T>C (p.Phe277Leu) | dbSNP |
13 | g.113149011T>G | CA388792238 | F10 | c.961T>G (p.Phe321Val) c.951T>G (p.Thr317=) c.957T>G (p.Thr319=) c.829T>G (p.Phe277Val) | |
13 | g.113149011T= | CA2120139981 | F10 | c.961T= (p.Phe321=) c.951T= (p.Thr317=) c.957T= (p.Thr319=) c.829T= (p.Phe277=) | |
13 | g.113149012T>A | CA388792240 | F10 | c.962T>A (p.Phe321Tyr) c.952T>A (p.Ser318Thr) c.958T>A (p.Ser320Thr) c.830T>A (p.Phe277Tyr) | |
13 | g.113149012T>C | CA388792245 | F10 | c.962T>C (p.Phe321Ser) c.952T>C (p.Ser318Pro) c.958T>C (p.Ser320Pro) c.830T>C (p.Phe277Ser) | |
13 | g.113149012T>G | CA388792243 | F10 | c.962T>G (p.Phe321Cys) c.952T>G (p.Ser318Ala) c.958T>G (p.Ser320Ala) c.830T>G (p.Phe277Cys) | |
13 | g.113149013C>A | CA388792248 | F10 | c.963C>A (p.Phe321Leu) c.953C>A (p.Ser318Ter) c.959C>A (p.Ser320Ter) c.831C>A (p.Phe277Leu) | gnomAD v4 |
13 | g.113149013C= | CA2120139987 | F10 | c.963C= (p.Phe321=) c.953C= (p.Ser318=) c.959C= (p.Ser320=) c.831C= (p.Phe277=) | |
13 | g.113149013C>G | CA388792251 | F10 | c.963C>G (p.Phe321Leu) c.953C>G (p.Ser318Trp) c.959C>G (p.Ser320Trp) c.831C>G (p.Phe277Leu) | |
13 | g.113149013C>T | CA7060650 | F10 | c.963C>T (p.Phe321=) c.953C>T (p.Ser318Leu) c.959C>T (p.Ser320Leu) c.831C>T (p.Phe277=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149014G>A | CA256478655 | F10 | c.964G>A (p.Asp322Asn) c.954G>A (p.Ser318=) c.960G>A (p.Ser320=) c.832G>A (p.Asp278Asn) | ClinVar dbSNP gnomAD v4 |
13 | g.113149014G>C | CA388792256 | F10 | c.964G>C (p.Asp322His) c.954G>C (p.Ser318=) c.960G>C (p.Ser320=) c.832G>C (p.Asp278His) | gnomAD v4 |
13 | g.113149014G= | CA2120139988 | F10 | c.964G= (p.Asp322=) c.954G= (p.Ser318=) c.960G= (p.Ser320=) c.832G= (p.Asp278=) | |
13 | g.113149014G>T | CA388792258 | F10 | c.964G>T (p.Asp322Tyr) c.954G>T (p.Ser318=) c.960G>T (p.Ser320=) c.832G>T (p.Asp278Tyr) | |
13 | g.113149015A>C | CA388792260 | F10 | c.965A>C (p.Asp322Ala) c.955A>C (p.Thr319Pro) c.961A>C (p.Thr321Pro) c.833A>C (p.Asp278Ala) | |
13 | g.113149015A>G | CA388792263 | F10 | c.965A>G (p.Asp322Gly) c.955A>G (p.Thr319Ala) c.961A>G (p.Thr321Ala) c.833A>G (p.Asp278Gly) | |
13 | g.113149015A>T | CA388792265 | F10 | c.965A>T (p.Asp322Val) c.955A>T (p.Thr319Ser) c.961A>T (p.Thr321Ser) c.833A>T (p.Asp278Val) | |
13 | g.113149016C>A | CA7060651 | F10 | c.966C>A (p.Asp322Glu) c.956C>A (p.Thr319Lys) c.962C>A (p.Thr321Lys) c.834C>A (p.Asp278Glu) | dbSNP ExAC gnomAD v2 |
13 | g.113149016C= | CA2120139990 | F10 | c.966C= (p.Asp322=) c.956C= (p.Thr319=) c.962C= (p.Thr321=) c.834C= (p.Asp278=) | |
13 | g.113149016C>G | CA388792270 | F10 | c.966C>G (p.Asp322Glu) c.956C>G (p.Thr319Arg) c.962C>G (p.Thr321Arg) c.834C>G (p.Asp278Glu) | gnomAD v4 |
13 | g.113149016C>T | CA388792271 | F10 | c.966C>T (p.Asp322=) c.956C>T (p.Thr319Ile) c.962C>T (p.Thr321Ile) c.834C>T (p.Asp278=) | |
13 | g.113149017A>C | CA388792273 | F10 | c.967A>C (p.Ile323Leu) c.957A>C (p.Thr319=) c.963A>C (p.Thr321=) c.835A>C (p.Ile279Leu) | |
13 | g.113149017A>G | CA388792277 | F10 | c.967A>G (p.Ile323Val) c.957A>G (p.Thr319=) c.963A>G (p.Thr321=) c.835A>G (p.Ile279Val) | |
13 | g.113149017A>T | CA388792275 | F10 | c.967A>T (p.Ile323Phe) c.957A>T (p.Thr319=) c.963A>T (p.Thr321=) c.835A>T (p.Ile279Phe) | |
13 | g.113149018T>A | CA388792279 | F10 | c.968T>A (p.Ile323Asn) c.958T>A (p.Ser320Thr) c.964T>A (p.Ser322Thr) c.836T>A (p.Ile279Asn) | |
13 | g.113149018T>C | CA388792282 | F10 | c.968T>C (p.Ile323Thr) c.958T>C (p.Ser320Pro) c.964T>C (p.Ser322Pro) c.836T>C (p.Ile279Thr) | |
13 | g.113149018T>G | CA388792285 | F10 | c.968T>G (p.Ile323Ser) c.958T>G (p.Ser320Ala) c.964T>G (p.Ser322Ala) c.836T>G (p.Ile279Ser) | |
13 | g.113149019C>A | CA388792288 | F10 | c.969C>A (p.Ile323=) c.959C>A (p.Ser320Ter) c.965C>A (p.Ser322Ter) c.837C>A (p.Ile279=) | |
13 | g.113149019C= | CA2120139995 | F10 | c.969C= (p.Ile323=) c.959C= (p.Ser320=) c.965C= (p.Ser322=) c.837C= (p.Ile279=) | |
13 | g.113149019C>G | CA388792290 | F10 | c.969C>G (p.Ile323Met) c.959C>G (p.Ser320Trp) c.965C>G (p.Ser322Trp) c.837C>G (p.Ile279Met) | COSMIC |
13 | g.113149019C>T | CA388792292 | F10 | c.969C>T (p.Ile323=) c.959C>T (p.Ser320Leu) c.965C>T (p.Ser322Leu) c.837C>T (p.Ile279=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149020G>A | CA388792299 | F10 | c.970G>A (p.Ala324Thr) c.960G>A (p.Ser320=) c.966G>A (p.Ser322=) c.838G>A (p.Ala280Thr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149020G>C | CA388792302 | F10 | c.970G>C (p.Ala324Pro) c.960G>C (p.Ser320=) c.966G>C (p.Ser322=) c.838G>C (p.Ala280Pro) | dbSNP gnomAD v4 |
13 | g.113149020G= | CA2120139997 | F10 | c.970G= (p.Ala324=) c.960G= (p.Ser320=) c.966G= (p.Ser322=) c.838G= (p.Ala280=) | |
13 | g.113149020G>T | CA388792305 | F10 | c.970G>T (p.Ala324Ser) c.960G>T (p.Ser320=) c.966G>T (p.Ser322=) c.838G>T (p.Ala280Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149021C>A | CA388792311 | F10 | c.971C>A (p.Ala324Asp) c.961C>A (p.Pro321Thr) c.967C>A (p.Pro323Thr) c.839C>A (p.Ala280Asp) | |
13 | g.113149021C>G | CA388792313 | F10 | c.971C>G (p.Ala324Gly) c.961C>G (p.Pro321Ala) c.967C>G (p.Pro323Ala) c.839C>G (p.Ala280Gly) | |
13 | g.113149021C>T | CA388792309 | F10 | c.971C>T (p.Ala324Val) c.961C>T (p.Pro321Ser) c.967C>T (p.Pro323Ser) c.839C>T (p.Ala280Val) | |
13 | g.113149022C>A | CA388792315 | F10 | c.972C>A (p.Ala324=) c.962C>A (p.Pro321Gln) c.968C>A (p.Pro323Gln) c.840C>A (p.Ala280=) | |
13 | g.113149022C= | CA2120140001 | F10 | c.972C= (p.Ala324=) c.962C= (p.Pro321=) c.968C= (p.Pro323=) c.840C= (p.Ala280=) | |
13 | g.113149022C>G | CA7060652 | F10 | c.972C>G (p.Ala324=) c.962C>G (p.Pro321Arg) c.968C>G (p.Pro323Arg) c.840C>G (p.Ala280=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149022C>T | CA7060653 | F10 | c.972C>T (p.Ala324=) c.962C>T (p.Pro321Leu) c.968C>T (p.Pro323Leu) c.840C>T (p.Ala280=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149023G>A | CA7060654 | F10 | c.973G>A (p.Val325Met) c.963G>A (p.Pro321=) c.969G>A (p.Pro323=) c.841G>A (p.Val281Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149023G>C | CA388792319 | F10 | c.973G>C (p.Val325Leu) c.963G>C (p.Pro321=) c.969G>C (p.Pro323=) c.841G>C (p.Val281Leu) | gnomAD v4 |
13 | g.113149023G= | CA2120140006 | F10 | c.973G= (p.Val325=) c.963G= (p.Pro321=) c.969G= (p.Pro323=) c.841G= (p.Val281=) | |
13 | g.113149023G>T | CA388792320 | F10 | c.973G>T (p.Val325Leu) c.963G>T (p.Pro321=) c.969G>T (p.Pro323=) c.841G>T (p.Val281Leu) | |
13 | g.113149024T>A | CA388792321 | F10 | c.974T>A (p.Val325Glu) c.964T>A (p.Cys322Ser) c.970T>A (p.Cys324Ser) c.842T>A (p.Val281Glu) | gnomAD v4 |
13 | g.113149024T>C | CA388792322 | F10 | c.974T>C (p.Val325Ala) c.964T>C (p.Cys322Arg) c.970T>C (p.Cys324Arg) c.842T>C (p.Val281Ala) | |
13 | g.113149024T>G | CA388792323 | F10 | c.974T>G (p.Val325Gly) c.964T>G (p.Cys322Gly) c.970T>G (p.Cys324Gly) c.842T>G (p.Val281Gly) | |
13 | g.113149025G>A | CA388792326 | F10 | c.975G>A (p.Val325=) c.965G>A (p.Cys322Tyr) c.971G>A (p.Cys324Tyr) c.843G>A (p.Val281=) | |
13 | g.113149025G>C | CA388792328 | F10 | c.975G>C (p.Val325=) c.965G>C (p.Cys322Ser) c.971G>C (p.Cys324Ser) c.843G>C (p.Val281=) | |
13 | g.113149025G>T | CA388792329 | F10 | c.975G>T (p.Val325=) c.965G>T (p.Cys322Phe) c.971G>T (p.Cys324Phe) c.843G>T (p.Val281=) | gnomAD v4 |
13 | g.113149026C>A | CA388792334 | F10 | c.976C>A (p.Leu326Ile) c.966C>A (p.Cys322Ter) c.972C>A (p.Cys324Ter) c.844C>A (p.Leu282Ile) | |
13 | g.113149026C= | CA2120140010 | F10 | c.976C= (p.Leu326=) c.966C= (p.Cys322=) c.972C= (p.Cys324=) c.844C= (p.Leu282=) | |
13 | g.113149026C>G | CA7060655 | F10 | c.976C>G (p.Leu326Val) c.966C>G (p.Cys322Trp) c.972C>G (p.Cys324Trp) c.844C>G (p.Leu282Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149026C>T | CA388792332 | F10 | c.976C>T (p.Leu326Phe) c.966C>T (p.Cys322=) c.972C>T (p.Cys324=) c.844C>T (p.Leu282Phe) | gnomAD v4 |
13 | g.113149027T>A | CA388792337 | F10 | c.977T>A (p.Leu326His) c.967T>A (p.Ser323Thr) c.973T>A (p.Ser325Thr) c.845T>A (p.Leu282His) | |
13 | g.113149027T>C | CA388792338 | F10 | c.977T>C (p.Leu326Pro) c.967T>C (p.Ser323Pro) c.973T>C (p.Ser325Pro) c.845T>C (p.Leu282Pro) | |
13 | g.113149027T>G | CA388792343 | F10 | c.977T>G (p.Leu326Arg) c.967T>G (p.Ser323Ala) c.973T>G (p.Ser325Ala) c.845T>G (p.Leu282Arg) | |
13 | g.113149028C>A | CA388792345 | F10 | c.978C>A (p.Leu326=) c.968C>A (p.Ser323Tyr) c.974C>A (p.Ser325Tyr) c.846C>A (p.Leu282=) | |
13 | g.113149028C= | CA2120140015 | F10 | c.978C= (p.Leu326=) c.968C= (p.Ser323=) c.974C= (p.Ser325=) c.846C= (p.Leu282=) | |
13 | g.113149028C>G | CA388792347 | F10 | c.978C>G (p.Leu326=) c.968C>G (p.Ser323Cys) c.974C>G (p.Ser325Cys) c.846C>G (p.Leu282=) | |
13 | g.113149028C>T | CA388792349 | F10 | c.978C>T (p.Leu326=) c.968C>T (p.Ser323Phe) c.974C>T (p.Ser325Phe) c.846C>T (p.Leu282=) | gnomAD v4 |
13 | g.113149029C>A | CA485424050 | F10 | c.979C>A (p.Arg327=) c.969C>A (p.Ser323=) c.975C>A (p.Ser325=) c.847C>A (p.Arg283=) | |
13 | g.113149029C= | CA2120140018 | F10 | c.979C= (p.Arg327=) c.969C= (p.Ser323=) c.975C= (p.Ser325=) c.847C= (p.Arg283=) | |
13 | g.113149029C>G | CA388792352 | F10 | c.979C>G (p.Arg327Gly) c.969C>G (p.Ser323=) c.975C>G (p.Ser325=) c.847C>G (p.Arg283Gly) | |
13 | g.113149029C>T | CA7060656 | F10 | c.979C>T (p.Arg327Trp) c.969C>T (p.Ser323=) c.975C>T (p.Ser325=) c.847C>T (p.Arg283Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149029_113149030dup | CA612868318 | F10 | c.979_980dup (p.Leu328GlyfsTer10) c.969_970dup (p.Gly324AlafsTer21) c.975_976dup (p.Gly326AlafsTer21) c.847_848dup (p.Leu284GlyfsTer10) | dbSNP gnomAD v2 |
13 | g.113149030G>A | CA7060657 | F10 | c.980G>A (p.Arg327Gln) c.970G>A (p.Gly324Ser) c.976G>A (p.Gly326Ser) c.848G>A (p.Arg283Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149030G>C | CA388792357 | F10 | c.980G>C (p.Arg327Pro) c.970G>C (p.Gly324Arg) c.976G>C (p.Gly326Arg) c.848G>C (p.Arg283Pro) | |
13 | g.113149030G= | CA2120140022 | F10 | c.980G= (p.Arg327=) c.970G= (p.Gly324=) c.976G= (p.Gly326=) c.848G= (p.Arg283=) | |
13 | g.113149030G>T | CA388792358 | F10 | c.980G>T (p.Arg327Leu) c.970G>T (p.Gly324Cys) c.976G>T (p.Gly326Cys) c.848G>T (p.Arg283Leu) | |
13 | g.113149031G>A | CA388792361 | F10 | c.981G>A (p.Arg327=) c.971G>A (p.Gly324Asp) c.977G>A (p.Gly326Asp) c.849G>A (p.Arg283=) | |
13 | g.113149031G>C | CA388792363 | F10 | c.981G>C (p.Arg327=) c.971G>C (p.Gly324Ala) c.977G>C (p.Gly326Ala) c.849G>C (p.Arg283=) | |
13 | g.113149031G>T | CA388792364 | F10 | c.981G>T (p.Arg327=) c.971G>T (p.Gly324Val) c.977G>T (p.Gly326Val) c.849G>T (p.Arg283=) | |
13 | g.113149032C>A | CA388792367 | F10 | c.982C>A (p.Leu328Ile) c.972C>A (p.Gly324=) c.978C>A (p.Gly326=) c.850C>A (p.Leu284Ile) | |
13 | g.113149032C>G | CA388792370 | F10 | c.982C>G (p.Leu328Val) c.972C>G (p.Gly324=) c.978C>G (p.Gly326=) c.850C>G (p.Leu284Val) | |
13 | g.113149032C>T | CA388792366 | F10 | c.982C>T (p.Leu328Phe) c.972C>T (p.Gly324=) c.978C>T (p.Gly326=) c.850C>T (p.Leu284Phe) | |
13 | g.113149033T>A | CA388792373 | F10 | c.983T>A (p.Leu328His) c.973T>A (p.Ser325Thr) c.979T>A (p.Ser327Thr) c.851T>A (p.Leu284His) | |
13 | g.113149033T>C | CA388792375 | F10 | c.983T>C (p.Leu328Pro) c.973T>C (p.Ser325Pro) c.979T>C (p.Ser327Pro) c.851T>C (p.Leu284Pro) | |
13 | g.113149033T>G | CA388792377 | F10 | c.983T>G (p.Leu328Arg) c.973T>G (p.Ser325Ala) c.979T>G (p.Ser327Ala) c.851T>G (p.Leu284Arg) | |
13 | g.113149034C>A | CA388792383 | F10 | c.984C>A (p.Leu328=) c.974C>A (p.Ser325Ter) c.980C>A (p.Ser327Ter) c.852C>A (p.Leu284=) | |
13 | g.113149034C= | CA2120140026 | F10 | c.984C= (p.Leu328=) c.974C= (p.Ser325=) c.980C= (p.Ser327=) c.852C= (p.Leu284=) | |
13 | g.113149034C>G | CA388792385 | F10 | c.984C>G (p.Leu328=) c.974C>G (p.Ser325Ter) c.980C>G (p.Ser327Ter) c.852C>G (p.Leu284=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149034C>T | CA388792394 | F10 | c.984C>T (p.Leu328=) c.974C>T (p.Ser325Leu) c.980C>T (p.Ser327Leu) c.852C>T (p.Leu284=) | |
13 | g.113149036_113149044del | CA2623809556 | F10 | c.986_994del (p.Lys329_Pro331del) c.976_984del (p.Arg326_Pro328del) c.982_990del (p.Arg328_Pro330del) c.854_862del (p.Lys285_Pro287del) | gnomAD v4 |
13 | g.113149035A>C | CA388792398 | F10 | c.985A>C (p.Lys329Gln) c.975A>C (p.Ser325=) c.981A>C (p.Ser327=) c.853A>C (p.Lys285Gln) | |
13 | g.113149035A>G | CA388792400 | F10 | c.985A>G (p.Lys329Glu) c.975A>G (p.Ser325=) c.981A>G (p.Ser327=) c.853A>G (p.Lys285Glu) | |
13 | g.113149035A>T | CA388792403 | F10 | c.985A>T (p.Lys329Ter) c.975A>T (p.Ser325=) c.981A>T (p.Ser327=) c.853A>T (p.Lys285Ter) | |
13 | g.113149036A>C | CA388792406 | F10 | c.986A>C (p.Lys329Thr) c.976A>C (p.Arg326=) c.982A>C (p.Arg328=) c.854A>C (p.Lys285Thr) | |
13 | g.113149036A>G | CA388792408 | F10 | c.986A>G (p.Lys329Arg) c.976A>G (p.Arg326Gly) c.982A>G (p.Arg328Gly) c.854A>G (p.Lys285Arg) | |
13 | g.113149036A>T | CA388792411 | F10 | c.986A>T (p.Lys329Met) c.976A>T (p.Arg326Ter) c.982A>T (p.Arg328Ter) c.854A>T (p.Lys285Met) | |
13 | g.113149037G>A | CA388792418 | F10 | c.987G>A (p.Lys329=) c.977G>A (p.Arg326Lys) c.983G>A (p.Arg328Lys) c.855G>A (p.Lys285=) | |
13 | g.113149037G>C | CA388792413 | F10 | c.987G>C (p.Lys329Asn) c.977G>C (p.Arg326Thr) c.983G>C (p.Arg328Thr) c.855G>C (p.Lys285Asn) | |
13 | g.113149037G>T | CA388792416 | F10 | c.987G>T (p.Lys329Asn) c.977G>T (p.Arg326Ile) c.983G>T (p.Arg328Ile) c.855G>T (p.Lys285Asn) | |
13 | g.113149038A>C | CA388792420 | F10 | c.988A>C (p.Thr330Pro) c.978A>C (p.Arg326Ser) c.984A>C (p.Arg328Ser) c.856A>C (p.Thr286Pro) | |
13 | g.113149038A>G | CA388792422 | F10 | c.988A>G (p.Thr330Ala) c.978A>G (p.Arg326=) c.984A>G (p.Arg328=) c.856A>G (p.Thr286Ala) | |
13 | g.113149038A>T | CA388792424 | F10 | c.988A>T (p.Thr330Ser) c.978A>T (p.Arg326Ser) c.984A>T (p.Arg328Ser) c.856A>T (p.Thr286Ser) | |
13 | g.113149039C>A | CA388792426 | F10 | c.989C>A (p.Thr330Asn) c.979C>A (p.Pro327Thr) c.985C>A (p.Pro329Thr) c.857C>A (p.Thr286Asn) | |
13 | g.113149039C= | CA2120140029 | F10 | c.989C= (p.Thr330=) c.979C= (p.Pro327=) c.985C= (p.Pro329=) c.857C= (p.Thr286=) | |
13 | g.113149039C>G | CA388792428 | F10 | c.989C>G (p.Thr330Ser) c.979C>G (p.Pro327Ala) c.985C>G (p.Pro329Ala) c.857C>G (p.Thr286Ser) | |
13 | g.113149039C>T | CA7060658 | F10 | c.989C>T (p.Thr330Ile) c.979C>T (p.Pro327Ser) c.985C>T (p.Pro329Ser) c.857C>T (p.Thr286Ile) | dbSNP ExAC gnomAD v2 |
13 | g.113149040C>A | CA388792433 | F10 | c.990C>A (p.Thr330=) c.980C>A (p.Pro327His) c.986C>A (p.Pro329His) c.858C>A (p.Thr286=) | COSMIC |
13 | g.113149040C= | CA2120140032 | F10 | c.990C= (p.Thr330=) c.980C= (p.Pro327=) c.986C= (p.Pro329=) c.858C= (p.Thr286=) | |
13 | g.113149040C>G | CA388792436 | F10 | c.990C>G (p.Thr330=) c.980C>G (p.Pro327Arg) c.986C>G (p.Pro329Arg) c.858C>G (p.Thr286=) | |
13 | g.113149040C>T | CA388792439 | F10 | c.990C>T (p.Thr330=) c.980C>T (p.Pro327Leu) c.986C>T (p.Pro329Leu) c.858C>T (p.Thr286=) | dbSNP gnomAD v4 |
13 | g.113149041C>A | CA388792443 | F10 | c.991C>A (p.Pro331Thr) c.981C>A (p.Pro327=) c.987C>A (p.Pro329=) c.859C>A (p.Pro287Thr) | |
13 | g.113149041C= | CA2120140036 | F10 | c.991C= (p.Pro331=) c.981C= (p.Pro327=) c.987C= (p.Pro329=) c.859C= (p.Pro287=) | |
13 | g.113149041C>G | CA388792446 | F10 | c.991C>G (p.Pro331Ala) c.981C>G (p.Pro327=) c.987C>G (p.Pro329=) c.859C>G (p.Pro287Ala) | |
13 | g.113149041C>T | CA388792448 | F10 | c.991C>T (p.Pro331Ser) c.981C>T (p.Pro327=) c.987C>T (p.Pro329=) c.859C>T (p.Pro287Ser) | |
13 | g.113149042C>A | CA388792452 | F10 | c.992C>A (p.Pro331His) c.982C>A (p.Pro328Thr) c.988C>A (p.Pro330Thr) c.860C>A (p.Pro287His) | |
13 | g.113149042C>G | CA388792455 | F10 | c.992C>G (p.Pro331Arg) c.982C>G (p.Pro328Ala) c.988C>G (p.Pro330Ala) c.860C>G (p.Pro287Arg) | |
13 | g.113149042C>T | CA388792450 | F10 | c.992C>T (p.Pro331Leu) c.982C>T (p.Pro328Ser) c.988C>T (p.Pro330Ser) c.860C>T (p.Pro287Leu) | ClinVar dbSNP |
13 | g.113149043_113149046dup | CA2120140038 | F10 | c.993_996dup (p.Thr333HisfsTer16) c.983_986dup (p.Pro330IlefsTer?) c.989_992dup (p.Pro332IlefsTer?) c.861_864dup (p.Thr289HisfsTer16) | dbSNP |
13 | g.113149043C>A | CA388792460 | F10 | c.993C>A (p.Pro331=) c.983C>A (p.Pro328Gln) c.989C>A (p.Pro330Gln) c.861C>A (p.Pro287=) | |
13 | g.113149043C= | CA2120140039 | F10 | c.993C= (p.Pro331=) c.983C= (p.Pro328=) c.989C= (p.Pro330=) c.861C= (p.Pro287=) | |
13 | g.113149043C>G | CA388792457 | F10 | c.993C>G (p.Pro331=) c.983C>G (p.Pro328Arg) c.989C>G (p.Pro330Arg) c.861C>G (p.Pro287=) | |
13 | g.113149043C>T | CA7060659 | F10 | c.993C>T (p.Pro331=) c.983C>T (p.Pro328Leu) c.989C>T (p.Pro330Leu) c.861C>T (p.Pro287=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149044A= | CA2120140041 | F10 | c.994A= (p.Ile332=) c.984A= (p.Pro328=) c.990A= (p.Pro330=) c.862A= (p.Ile288=) | |
13 | g.113149044A>C | CA388792466 | F10 | c.994A>C (p.Ile332Leu) c.984A>C (p.Pro328=) c.990A>C (p.Pro330=) c.862A>C (p.Ile288Leu) | |
13 | g.113149044A>G | CA388792469 | F10 | c.994A>G (p.Ile332Val) c.984A>G (p.Pro328=) c.990A>G (p.Pro330=) c.862A>G (p.Ile288Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149044A>T | CA388792471 | F10 | c.994A>T (p.Ile332Phe) c.984A>T (p.Pro328=) c.990A>T (p.Pro330=) c.862A>T (p.Ile288Phe) | |
13 | g.113149045T>A | CA388792472 | F10 | c.995T>A (p.Ile332Asn) c.985T>A (p.Ser329Thr) c.991T>A (p.Ser331Thr) c.863T>A (p.Ile288Asn) | |
13 | g.113149045T>C | CA388792477 | F10 | c.995T>C (p.Ile332Thr) c.985T>C (p.Ser329Pro) c.991T>C (p.Ser331Pro) c.863T>C (p.Ile288Thr) | |
13 | g.113149045T>G | CA388792480 | F10 | c.995T>G (p.Ile332Ser) c.985T>G (p.Ser329Ala) c.991T>G (p.Ser331Ala) c.863T>G (p.Ile288Ser) | |
13 | g.113149046C>A | CA388792481 | F10 | c.996C>A (p.Ile332=) c.986C>A (p.Ser329Ter) c.992C>A (p.Ser331Ter) c.864C>A (p.Ile288=) | |
13 | g.113149046C>G | CA388792483 | F10 | c.996C>G (p.Ile332Met) c.986C>G (p.Ser329Ter) c.992C>G (p.Ser331Ter) c.864C>G (p.Ile288Met) | |
13 | g.113149046C>T | CA388792485 | F10 | c.996C>T (p.Ile332=) c.986C>T (p.Ser329Leu) c.992C>T (p.Ser331Leu) c.864C>T (p.Ile288=) | |
13 | g.113149047A>C | CA388792487 | F10 | c.997A>C (p.Thr333Pro) c.987A>C (p.Ser329=) c.993A>C (p.Ser331=) c.865A>C (p.Thr289Pro) | |
13 | g.113149047A>G | CA388792490 | F10 | c.997A>G (p.Thr333Ala) c.987A>G (p.Ser329=) c.993A>G (p.Ser331=) c.865A>G (p.Thr289Ala) | |
13 | g.113149047A>T | CA388792491 | F10 | c.997A>T (p.Thr333Ser) c.987A>T (p.Ser329=) c.993A>T (p.Ser331=) c.865A>T (p.Thr289Ser) | |
13 | g.113149048C>A | CA388792498 | F10 | c.998C>A (p.Thr333Asn) c.988C>A (p.Pro330Thr) c.994C>A (p.Pro332Thr) c.866C>A (p.Thr289Asn) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149048C= | CA2120140043 | F10 | c.998C= (p.Thr333=) c.988C= (p.Pro330=) c.994C= (p.Pro332=) c.866C= (p.Thr289=) | |
13 | g.113149048C>G | CA388792495 | F10 | c.998C>G (p.Thr333Ser) c.988C>G (p.Pro330Ala) c.994C>G (p.Pro332Ala) c.866C>G (p.Thr289Ser) | |
13 | g.113149048C>T | CA388792494 | F10 | c.998C>T (p.Thr333Ile) c.988C>T (p.Pro330Ser) c.994C>T (p.Pro332Ser) c.866C>T (p.Thr289Ile) | |
13 | g.113149049C>A | CA388792502 | F10 | c.999C>A (p.Thr333=) c.989C>A (p.Pro330His) c.995C>A (p.Pro332His) c.867C>A (p.Thr289=) | |
13 | g.113149049C>G | CA388792503 | F10 | c.999C>G (p.Thr333=) c.989C>G (p.Pro330Arg) c.995C>G (p.Pro332Arg) c.867C>G (p.Thr289=) | |
13 | g.113149049C>T | CA388792507 | F10 | c.999C>T (p.Thr333=) c.989C>T (p.Pro330Leu) c.995C>T (p.Pro332Leu) c.867C>T (p.Thr289=) | gnomAD v4 |
13 | g.113149050T>A | CA388792509 | F10 | c.1000T>A (p.Phe334Ile) c.990T>A (p.Pro330=) c.996T>A (p.Pro332=) c.868T>A (p.Phe290Ile) | gnomAD v4 |
13 | g.113149050T>C | CA388792511 | F10 | c.1000T>C (p.Phe334Leu) c.990T>C (p.Pro330=) c.996T>C (p.Pro332=) c.868T>C (p.Phe290Leu) | |
13 | g.113149050T>G | CA388792513 | F10 | c.1000T>G (p.Phe334Val) c.990T>G (p.Pro330=) c.996T>G (p.Pro332=) c.868T>G (p.Phe290Val) | |
13 | g.113149051T>A | CA388792516 | F10 | c.1001T>A (p.Phe334Tyr) c.991T>A (p.Ser331Thr) c.997T>A (p.Ser333Thr) c.869T>A (p.Phe290Tyr) | |
13 | g.113149051T>C | CA388792518 | F10 | c.1001T>C (p.Phe334Ser) c.991T>C (p.Ser331Pro) c.997T>C (p.Ser333Pro) c.869T>C (p.Phe290Ser) | |
13 | g.113149051T>G | CA388792520 | F10 | c.1001T>G (p.Phe334Cys) c.991T>G (p.Ser331Ala) c.997T>G (p.Ser333Ala) c.869T>G (p.Phe290Cys) | |
13 | g.113149052C>A | CA388792521 | F10 | c.1002C>A (p.Phe334Leu) c.992C>A (p.Ser331Tyr) c.998C>A (p.Ser333Tyr) c.870C>A (p.Phe290Leu) | |
13 | g.113149052C>G | CA388792523 | F10 | c.1002C>G (p.Phe334Leu) c.992C>G (p.Ser331Cys) c.998C>G (p.Ser333Cys) c.870C>G (p.Phe290Leu) | gnomAD v4 |
13 | g.113149052C>T | CA388792526 | F10 | c.1002C>T (p.Phe334=) c.992C>T (p.Ser331Phe) c.998C>T (p.Ser333Phe) c.870C>T (p.Phe290=) | |
13 | g.113149053C>A | CA388792532 | F10 | c.1003C>A (p.Arg335Ser) c.993C>A (p.Ser331=) c.999C>A (p.Ser333=) c.871C>A (p.Arg291Ser) | |
13 | g.113149053C= | CA2120140045 | F10 | c.1003C= (p.Arg335=) c.993C= (p.Ser331=) c.999C= (p.Ser333=) c.871C= (p.Arg291=) | |
13 | g.113149053C>G | CA388792530 | F10 | c.1003C>G (p.Arg335Gly) c.993C>G (p.Ser331=) c.999C>G (p.Ser333=) c.871C>G (p.Arg291Gly) | |
13 | g.113149053C>T | CA7060660 | F10 | c.1003C>T (p.Arg335Cys) c.993C>T (p.Ser331=) c.999C>T (p.Ser333=) c.871C>T (p.Arg291Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149054G>A | CA7060661 | F10 | c.1004G>A (p.Arg335His) c.994G>A (p.Ala332Thr) c.1000G>A (p.Ala334Thr) c.872G>A (p.Arg291His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149054G>C | CA388792537 | F10 | c.1004G>C (p.Arg335Pro) c.994G>C (p.Ala332Pro) c.1000G>C (p.Ala334Pro) c.872G>C (p.Arg291Pro) | COSMIC |
13 | g.113149054G= | CA2120140055 | F10 | c.1004G= (p.Arg335=) c.994G= (p.Ala332=) c.1000G= (p.Ala334=) c.872G= (p.Arg291=) | |
13 | g.113149054G>T | CA388792539 | F10 | c.1004G>T (p.Arg335Leu) c.994G>T (p.Ala332Ser) c.1000G>T (p.Ala334Ser) c.872G>T (p.Arg291Leu) | gnomAD v4 |
13 | g.113149055del | CA2623809558 | F10 | c.1005del (p.Met336Ter) c.995del (p.Ala332AspfsTer12) c.1001del (p.Ala334AspfsTer12) c.873del (p.Met292Ter) | gnomAD v4 |
13 | g.113149055C>A | CA388792542 | F10 | c.1005C>A (p.Arg335=) c.995C>A (p.Ala332Glu) c.1001C>A (p.Ala334Glu) c.873C>A (p.Arg291=) | |
13 | g.113149055C>G | CA388792543 | F10 | c.1005C>G (p.Arg335=) c.995C>G (p.Ala332Gly) c.1001C>G (p.Ala334Gly) c.873C>G (p.Arg291=) | |
13 | g.113149055C>T | CA388792545 | F10 | c.1005C>T (p.Arg335=) c.995C>T (p.Ala332Val) c.1001C>T (p.Ala334Val) c.873C>T (p.Arg291=) | |
13 | g.113149056A= | CA2120140061 | F10 | c.1006A= (p.Met336=) c.996A= (p.Ala332=) c.1002A= (p.Ala334=) c.874A= (p.Met292=) | |
13 | g.113149056A>C | CA388792548 | F10 | c.1006A>C (p.Met336Leu) c.996A>C (p.Ala332=) c.1002A>C (p.Ala334=) c.874A>C (p.Met292Leu) | |
13 | g.113149056A>G | CA256478663 | F10 | c.1006A>G (p.Met336Val) c.996A>G (p.Ala332=) c.1002A>G (p.Ala334=) c.874A>G (p.Met292Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149056A>T | CA388792551 | F10 | c.1006A>T (p.Met336Leu) c.996A>T (p.Ala332=) c.1002A>T (p.Ala334=) c.874A>T (p.Met292Leu) | |
13 | g.113149057T>A | CA388792554 | F10 | c.1007T>A (p.Met336Lys) c.997T>A (p.Ter333Arg) c.1003T>A (p.Ter335Arg) c.875T>A (p.Met292Lys) | |
13 | g.113149057T>C | CA388792556 | F10 | c.1007T>C (p.Met336Thr) c.997T>C (p.Ter333Arg) c.1003T>C (p.Ter335Arg) c.875T>C (p.Met292Thr) | |
13 | g.113149057T>G | CA388792558 | F10 | c.1007T>G (p.Met336Arg) c.997T>G (p.Ter333Gly) c.1003T>G (p.Ter335Gly) c.875T>G (p.Met292Arg) | |
13 | g.113149058G>A | CA388792566 | F10 | c.1008G>A (p.Met336Ile) c.998G>A (p.Ter333=) c.1004G>A (p.Ter335=) c.876G>A (p.Met292Ile) | COSMIC |
13 | g.113149058G>C | CA388792563 | F10 | c.1008G>C (p.Met336Ile) c.998G>C (p.Ter333Ser) c.1004G>C (p.Ter335Ser) c.876G>C (p.Met292Ile) | |
13 | g.113149058G>T | CA388792560 | F10 | c.1008G>T (p.Met336Ile) c.998G>T (p.Ter333Leu) c.1004G>T (p.Ter335Leu) c.876G>T (p.Met292Ile) | |
13 | g.113149059A>C | CA388792569 | F10 | c.1009A>C (p.Asn337His) c.999A>C (p.Ter333Cys) c.1005A>C (p.Ter335Cys) c.877A>C (p.Asn293His) | |
13 | g.113149059A>G | CA388792572 | F10 | c.1009A>G (p.Asn337Asp) c.999A>G (p.Ter333Trp) c.1005A>G (p.Ter335Trp) c.877A>G (p.Asn293Asp) | |
13 | g.113149059A>T | CA388792574 | F10 | c.1009A>T (p.Asn337Tyr) c.999A>T (p.Ter333Cys) c.1005A>T (p.Ter335Cys) c.877A>T (p.Asn293Tyr) | |
13 | g.113149060A>C | CA388792577 | F10 | c.1010A>C (p.Asn337Thr) c.*1A>C (n.*1A>C) c.878A>C (p.Asn293Thr) | |
13 | g.113149060A>G | CA388792578 | F10 | c.1010A>G (p.Asn337Ser) c.*1A>G (n.*1A>G) c.878A>G (p.Asn293Ser) | |
13 | g.113149060A>T | CA388792581 | F10 | c.1010A>T (p.Asn337Ile) c.*1A>T (n.*1A>T) c.878A>T (p.Asn293Ile) | |
13 | g.113149061C>A | CA256478665 | F10 | c.1011C>A (p.Asn337Lys) c.*2C>A (n.*2C>A) c.879C>A (p.Asn293Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149061C= | CA2120140069 | F10 | c.1011C= (p.Asn337=) c.*2C= (n.*2C=) c.879C= (p.Asn293=) | |
13 | g.113149061C>G | CA388792585 | F10 | c.1011C>G (p.Asn337Lys) c.*2C>G (n.*2C>G) c.879C>G (p.Asn293Lys) | |
13 | g.113149061C>T | CA7060662 | F10 | c.1011C>T (p.Asn337=) c.*2C>T (n.*2C>T) c.879C>T (p.Asn293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149062G>A | CA256478666 | F10 | c.1012G>A (p.Val338Met) c.*3G>A (n.*3G>A) c.880G>A (p.Val294Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149062G>C | CA388792588 | F10 | c.1012G>C (p.Val338Leu) c.*3G>C (n.*3G>C) c.880G>C (p.Val294Leu) | |
13 | g.113149062G= | CA2120140078 | F10 | c.1012G= (p.Val338=) c.*3G= (n.*3G=) c.880G= (p.Val294=) | |
13 | g.113149062G>T | CA388792591 | F10 | c.1012G>T (p.Val338Leu) c.*3G>T (n.*3G>T) c.880G>T (p.Val294Leu) | gnomAD v4 |
13 | g.113149063T>A | CA388792599 | F10 | c.1013T>A (p.Val338Glu) c.*4T>A (n.*4T>A) c.881T>A (p.Val294Glu) | |
13 | g.113149063T>C | CA388792597 | F10 | c.1013T>C (p.Val338Ala) c.*4T>C (n.*4T>C) c.881T>C (p.Val294Ala) | |
13 | g.113149063T>G | CA388792595 | F10 | c.1013T>G (p.Val338Gly) c.*4T>G (n.*4T>G) c.881T>G (p.Val294Gly) | |
13 | g.113149064G>A | CA485424051 | F10 | c.1014G>A (p.Val338=) c.*5G>A (n.*5G>A) c.882G>A (p.Val294=) | |
13 | g.113149064G>C | CA7060663 | F10 | c.1014G>C (p.Val338=) c.*5G>C (n.*5G>C) c.882G>C (p.Val294=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149064G= | CA2120140081 | F10 | c.1014G= (p.Val338=) c.*5G= (n.*5G=) c.882G= (p.Val294=) | |
13 | g.113149064G>T | CA485424052 | F10 | c.1014G>T (p.Val338=) c.*5G>T (n.*5G>T) c.882G>T (p.Val294=) | |
13 | g.113149065G>A | CA388792608 | F10 | c.1015G>A (p.Ala339Thr) c.*6G>A (n.*6G>A) c.883G>A (p.Ala295Thr) | |
13 | g.113149065G>C | CA388792603 | F10 | c.1015G>C (p.Ala339Pro) c.*6G>C (n.*6G>C) c.883G>C (p.Ala295Pro) | |
13 | g.113149065G>T | CA388792605 | F10 | c.1015G>T (p.Ala339Ser) c.*6G>T (n.*6G>T) c.883G>T (p.Ala295Ser) | |
13 | g.113149066C>A | CA388792612 | F10 | c.1016C>A (p.Ala339Glu) c.*7C>A (n.*7C>A) c.884C>A (p.Ala295Glu) | |
13 | g.113149066C= | CA2120140083 | F10 | c.1016C= (p.Ala339=) c.*7C= (n.*7C=) c.884C= (p.Ala295=) | |
13 | g.113149066C>G | CA388792614 | F10 | c.1016C>G (p.Ala339Gly) c.*7C>G (n.*7C>G) c.884C>G (p.Ala295Gly) | |
13 | g.113149066C>T | CA7060664 | F10 | c.1016C>T (p.Ala339Val) c.*7C>T (n.*7C>T) c.884C>T (p.Ala295Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149067G>A | CA7060665 | F10 | c.1017G>A (p.Ala339=) c.*8G>A (n.*8G>A) c.885G>A (p.Ala295=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149067G>C | CA485424053 | F10 | c.1017G>C (p.Ala339=) c.*8G>C (n.*8G>C) c.885G>C (p.Ala295=) | |
13 | g.113149067G= | CA2120140086 | F10 | c.1017G= (p.Ala339=) c.*8G= (n.*8G=) c.885G= (p.Ala295=) | |
13 | g.113149067G>T | CA485424054 | F10 | c.1017G>T (p.Ala339=) c.*8G>T (n.*8G>T) c.885G>T (p.Ala295=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149075_113149078dup | CA2623809560 | F10 | c.1025_1028dup (p.Glu345ProfsTer4) c.*16_*19dup (n.*16_*19dup) c.893_896dup (p.Glu301ProfsTer4) | gnomAD v4 |
13 | g.113149068C>A | CA388792621 | F10 | c.1018C>A (p.Pro340Thr) c.*9C>A (n.*9C>A) c.886C>A (p.Pro296Thr) | |
13 | g.113149068C= | CA2120140089 | F10 | c.1018C= (p.Pro340=) c.*9C= (n.*9C=) c.886C= (p.Pro296=) | |
13 | g.113149068C>G | CA256478670 | F10 | c.1018C>G (p.Pro340Ala) c.*9C>G (n.*9C>G) c.886C>G (p.Pro296Ala) | dbSNP gnomAD v4 |
13 | g.113149068C>T | CA7060666 | F10 | c.1018C>T (p.Pro340Ser) c.*9C>T (n.*9C>T) c.886C>T (p.Pro296Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149069C>A | CA388792626 | F10 | c.1019C>A (p.Pro340His) c.*10C>A (n.*10C>A) c.887C>A (p.Pro296His) | |
13 | g.113149069C>G | CA388792629 | F10 | c.1019C>G (p.Pro340Arg) c.*10C>G (n.*10C>G) c.887C>G (p.Pro296Arg) | |
13 | g.113149069C>T | CA388792631 | F10 | c.1019C>T (p.Pro340Leu) c.*10C>T (n.*10C>T) c.887C>T (p.Pro296Leu) | gnomAD v4 |
13 | g.113149070T>A | CA485424055 | F10 | c.1020T>A (p.Pro340=) c.*11T>A (n.*11T>A) c.888T>A (p.Pro296=) | |
13 | g.113149070T>C | CA485424056 | F10 | c.1020T>C (p.Pro340=) c.*11T>C (n.*11T>C) c.888T>C (p.Pro296=) | dbSNP |
13 | g.113149070T>G | CA485424057 | F10 | c.1020T>G (p.Pro340=) c.*11T>G (n.*11T>G) c.888T>G (p.Pro296=) | |
13 | g.113149071G>A | CA256478672 | F10 | c.1021G>A (p.Ala341Thr) c.*12G>A (n.*12G>A) c.889G>A (p.Ala297Thr) | dbSNP |
13 | g.113149071G>C | CA388792633 | F10 | c.1021G>C (p.Ala341Pro) c.*12G>C (n.*12G>C) c.889G>C (p.Ala297Pro) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149071G= | CA2120140092 | F10 | c.1021G= (p.Ala341=) c.*12G= (n.*12G=) c.889G= (p.Ala297=) | |
13 | g.113149071G>T | CA388792634 | F10 | c.1021G>T (p.Ala341Ser) c.*12G>T (n.*12G>T) c.889G>T (p.Ala297Ser) | |
13 | g.113149072C>A | CA388792637 | F10 | c.1022C>A (p.Ala341Asp) c.*13C>A (n.*13C>A) c.890C>A (p.Ala297Asp) | |
13 | g.113149072C>G | CA388792639 | F10 | c.1022C>G (p.Ala341Gly) c.*13C>G (n.*13C>G) c.890C>G (p.Ala297Gly) | |
13 | g.113149072C>T | CA388792641 | F10 | c.1022C>T (p.Ala341Val) c.*13C>T (n.*13C>T) c.890C>T (p.Ala297Val) | |
13 | g.113149073C>A | CA485424058 | F10 | c.1023C>A (p.Ala341=) c.*14C>A (n.*14C>A) c.891C>A (p.Ala297=) | |
13 | g.113149073C>G | CA485424059 | F10 | c.1023C>G (p.Ala341=) c.*14C>G (n.*14C>G) c.891C>G (p.Ala297=) | |
13 | g.113149073C>T | CA485424060 | F10 | c.1023C>T (p.Ala341=) c.*14C>T (n.*14C>T) c.891C>T (p.Ala297=) | |
13 | g.113149074T>A | CA388792642 | F10 | c.1024T>A (p.Cys342Ser) c.*15T>A (n.*15T>A) c.892T>A (p.Cys298Ser) | |
13 | g.113149074T>C | CA388792644 | F10 | c.1024T>C (p.Cys342Arg) c.*15T>C (n.*15T>C) c.892T>C (p.Cys298Arg) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149074T>G | CA388792647 | F10 | c.1024T>G (p.Cys342Gly) c.*15T>G (n.*15T>G) c.892T>G (p.Cys298Gly) | |
13 | g.113149074T= | CA2120140095 | F10 | c.1024T= (p.Cys342=) c.*15T= (n.*15T=) c.892T= (p.Cys298=) | |
13 | g.113149075G>A | CA388792650 | F10 | c.1025G>A (p.Cys342Tyr) c.*16G>A (n.*16G>A) c.893G>A (p.Cys298Tyr) | |
13 | g.113149075G>C | CA388792653 | F10 | c.1025G>C (p.Cys342Ser) c.*16G>C (n.*16G>C) c.893G>C (p.Cys298Ser) | |
13 | g.113149075G>T | CA388792655 | F10 | c.1025G>T (p.Cys342Phe) c.*16G>T (n.*16G>T) c.893G>T (p.Cys298Phe) | |
13 | g.113149076C>A | CA388792657 | F10 | c.1026C>A (p.Cys342Ter) c.*17C>A (n.*17C>A) c.894C>A (p.Cys298Ter) | |
13 | g.113149076C>G | CA388792660 | F10 | c.1026C>G (p.Cys342Trp) c.*17C>G (n.*17C>G) c.894C>G (p.Cys298Trp) | |
13 | g.113149076C>T | CA485424061 | F10 | c.1026C>T (p.Cys342=) c.*17C>T (n.*17C>T) c.894C>T (p.Cys298=) | |
13 | g.113149077C>A | CA388792665 | F10 | c.1027C>A (p.Leu343Ile) c.*18C>A (n.*18C>A) c.895C>A (p.Leu299Ile) | gnomAD v4 |
13 | g.113149077C>G | CA388792668 | F10 | c.1027C>G (p.Leu343Val) c.*18C>G (n.*18C>G) c.895C>G (p.Leu299Val) | |
13 | g.113149077C>T | CA388792663 | F10 | c.1027C>T (p.Leu343Phe) c.*18C>T (n.*18C>T) c.895C>T (p.Leu299Phe) | |
13 | g.113149078T>A | CA388792669 | F10 | c.1028T>A (p.Leu343His) c.*19T>A (n.*19T>A) c.896T>A (p.Leu299His) | |
13 | g.113149078T>C | CA388792671 | F10 | c.1028T>C (p.Leu343Pro) c.*19T>C (n.*19T>C) c.896T>C (p.Leu299Pro) | COSMIC |
13 | g.113149078T>G | CA388792673 | F10 | c.1028T>G (p.Leu343Arg) c.*19T>G (n.*19T>G) c.896T>G (p.Leu299Arg) | |
13 | g.113149079C>A | CA485424062 | F10 | c.1029C>A (p.Leu343=) c.*20C>A (n.*20C>A) c.897C>A (p.Leu299=) | |
13 | g.113149079C>G | CA485424063 | F10 | c.1029C>G (p.Leu343=) c.*20C>G (n.*20C>G) c.897C>G (p.Leu299=) | |
13 | g.113149079C>T | CA485424064 | F10 | c.1029C>T (p.Leu343=) c.*20C>T (n.*20C>T) c.897C>T (p.Leu299=) | |
13 | g.113149080C>A | CA388792675 | F10 | c.1030C>A (p.Pro344Thr) c.*21C>A (n.*21C>A) c.898C>A (p.Pro300Thr) | |
13 | g.113149080C>G | CA388792677 | F10 | c.1030C>G (p.Pro344Ala) c.*21C>G (n.*21C>G) c.898C>G (p.Pro300Ala) | |
13 | g.113149080C>T | CA388792679 | F10 | c.1030C>T (p.Pro344Ser) c.*21C>T (n.*21C>T) c.898C>T (p.Pro300Ser) | |
13 | g.113149081C>A | CA388792681 | F10 | c.1031C>A (p.Pro344His) c.*22C>A (n.*22C>A) c.899C>A (p.Pro300His) | COSMIC |
13 | g.113149081C>G | CA388792684 | F10 | c.1031C>G (p.Pro344Arg) c.*22C>G (n.*22C>G) c.899C>G (p.Pro300Arg) | gnomAD v4 |
13 | g.113149081C>T | CA388792686 | F10 | c.1031C>T (p.Pro344Leu) c.*22C>T (n.*22C>T) c.899C>T (p.Pro300Leu) | |
13 | g.113149082C>A | CA485424065 | F10 | c.1032C>A (p.Pro344=) c.*23C>A (n.*23C>A) c.900C>A (p.Pro300=) | COSMIC |
13 | g.113149082C= | CA2120140126 | F10 | c.1032C= (p.Pro344=) c.*23C= (n.*23C=) c.900C= (p.Pro300=) | |
13 | g.113149082C>G | CA485424066 | F10 | c.1032C>G (p.Pro344=) c.*23C>G (n.*23C>G) c.900C>G (p.Pro300=) | gnomAD v4 |
13 | g.113149082C>T | CA7060667 | F10 | c.1032C>T (p.Pro344=) c.*23C>T (n.*23C>T) c.900C>T (p.Pro300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149083G>A | CA7060668 | F10 | c.1033G>A (p.Glu345Lys) c.*24G>A (n.*24G>A) c.901G>A (p.Glu301Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149083G>C | CA388792692 | F10 | c.1033G>C (p.Glu345Gln) c.*24G>C (n.*24G>C) c.901G>C (p.Glu301Gln) | gnomAD v4 |
13 | g.113149083G= | CA2120140133 | F10 | c.1033G= (p.Glu345=) c.*24G= (n.*24G=) c.901G= (p.Glu301=) | |
13 | g.113149083G>T | CA388792694 | F10 | c.1033G>T (p.Glu345Ter) c.*24G>T (n.*24G>T) c.901G>T (p.Glu301Ter) | |
13 | g.113149084A>C | CA388792702 | F10 | c.1034A>C (p.Glu345Ala) c.*25A>C (n.*25A>C) c.902A>C (p.Glu301Ala) | |
13 | g.113149084A>G | CA388792700 | F10 | c.1034A>G (p.Glu345Gly) c.*25A>G (n.*25A>G) c.902A>G (p.Glu301Gly) | |
13 | g.113149084A>T | CA388792697 | F10 | c.1034A>T (p.Glu345Val) c.*25A>T (n.*25A>T) c.902A>T (p.Glu301Val) | |
13 | g.113149085G>A | CA7060669 | F10 | c.1035G>A (p.Glu345=) c.*26G>A (n.*26G>A) c.903G>A (p.Glu301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149085G>C | CA388792706 | F10 | c.1035G>C (p.Glu345Asp) c.*26G>C (n.*26G>C) c.903G>C (p.Glu301Asp) | |
13 | g.113149085G= | CA2120140137 | F10 | c.1035G= (p.Glu345=) c.*26G= (n.*26G=) c.903G= (p.Glu301=) | |
13 | g.113149085G>T | CA388792707 | F10 | c.1035G>T (p.Glu345Asp) c.*26G>T (n.*26G>T) c.903G>T (p.Glu301Asp) | |
13 | g.113149086C>A | CA388792709 | F10 | c.1036C>A (p.Arg346Ser) c.*27C>A (n.*27C>A) c.904C>A (p.Arg302Ser) | gnomAD v4 |
13 | g.113149086C= | CA2120140139 | F10 | c.1036C= (p.Arg346=) c.*27C= (n.*27C=) c.904C= (p.Arg302=) | |
13 | g.113149086C>G | CA388792710 | F10 | c.1036C>G (p.Arg346Gly) c.*27C>G (n.*27C>G) c.904C>G (p.Arg302Gly) | |
13 | g.113149086C>T | CA7060670 | F10 | c.1036C>T (p.Arg346Cys) c.*27C>T (n.*27C>T) c.904C>T (p.Arg302Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.113149087G>A | CA7060671 | F10 | c.1037G>A (p.Arg346His) c.*28G>A (n.*28G>A) c.905G>A (p.Arg302His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.113149087G>C | CA388792718 | F10 | c.1037G>C (p.Arg346Pro) c.*28G>C (n.*28G>C) c.905G>C (p.Arg302Pro) | |
13 | g.113149087G= | CA2120140142 | F10 | c.1037G= (p.Arg346=) c.*28G= (n.*28G=) c.905G= (p.Arg302=) | |
13 | g.113149087G>T | CA388792720 | F10 | c.1037G>T (p.Arg346Leu) c.*28G>T (n.*28G>T) c.905G>T (p.Arg302Leu) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.113149088T>A | CA485424067 | F10 | c.1038T>A (p.Arg346=) c.*29T>A (n.*29T>A) c.906T>A (p.Arg302=) | |
13 | g.113149088T>C | CA485424068 | F10 | c.1038T>C (p.Arg346=) c.*29T>C (n.*29T>C) c.906T>C (p.Arg302=) | |
13 | g.113149088T>G | CA7060672 | F10 | c.1038T>G (p.Arg346=) c.*29T>G (n.*29T>G) c.906T>G (p.Arg302=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149088T= | CA2120140146 | F10 | c.1038T= (p.Arg346=) c.*29T= (n.*29T=) c.906T= (p.Arg302=) | |
13 | g.113149089G>A | CA388792723 | F10 | c.1039G>A (p.Asp347Asn) c.*30G>A (n.*30G>A) c.907G>A (p.Asp303Asn) | gnomAD v4 |
13 | g.113149089G>C | CA388792725 | F10 | c.1039G>C (p.Asp347His) c.*30G>C (n.*30G>C) c.907G>C (p.Asp303His) | |
13 | g.113149089G>T | CA388792728 | F10 | c.1039G>T (p.Asp347Tyr) c.*30G>T (n.*30G>T) c.907G>T (p.Asp303Tyr) | |
13 | g.113149090A>C | CA388792733 | F10 | c.1040A>C (p.Asp347Ala) c.*31A>C (n.*31A>C) c.908A>C (p.Asp303Ala) | |
13 | g.113149090A>G | CA388792734 | F10 | c.1040A>G (p.Asp347Gly) c.*31A>G (n.*31A>G) c.908A>G (p.Asp303Gly) | gnomAD v4 |
13 | g.113149090A>T | CA388792731 | F10 | c.1040A>T (p.Asp347Val) c.*31A>T (n.*31A>T) c.908A>T (p.Asp303Val) | |
13 | g.113149091C>A | CA388792735 | F10 | c.1041C>A (p.Asp347Glu) c.*32C>A (n.*32C>A) c.909C>A (p.Asp303Glu) | |
13 | g.113149091C= | CA2120140149 | F10 | c.1041C= (p.Asp347=) c.*32C= (n.*32C=) c.909C= (p.Asp303=) | |
13 | g.113149091C>G | CA388792737 | F10 | c.1041C>G (p.Asp347Glu) c.*32C>G (n.*32C>G) c.909C>G (p.Asp303Glu) | |
13 | g.113149091C>T | CA485424069 | F10 | c.1041C>T (p.Asp347=) c.*32C>T (n.*32C>T) c.909C>T (p.Asp303=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149092T>A | CA388792738 | F10 | c.1042T>A (p.Trp348Arg) c.*33T>A (n.*33T>A) c.910T>A (p.Trp304Arg) | |
13 | g.113149092T>C | CA7060673 | F10 | c.1042T>C (p.Trp348Arg) c.*33T>C (n.*33T>C) c.910T>C (p.Trp304Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.113149092T>G | CA388792742 | F10 | c.1042T>G (p.Trp348Gly) c.*33T>G (n.*33T>G) c.910T>G (p.Trp304Gly) | |
13 | g.113149092T= | CA2120140151 | F10 | c.1042T= (p.Trp348=) c.*33T= (n.*33T=) c.910T= (p.Trp304=) | |
13 | g.113149093G>A | CA388792748 | F10 | c.1043G>A (p.Trp348Ter) c.*34G>A (n.*34G>A) c.911G>A (p.Trp304Ter) | ClinVar dbSNP |
13 | g.113149093G>C | CA388792746 | F10 | c.1043G>C (p.Trp348Ser) c.*34G>C (n.*34G>C) c.911G>C (p.Trp304Ser) | |
13 | g.113149093G= | CA2120140155 | F10 | c.1043G= (p.Trp348=) c.*34G= (n.*34G=) c.911G= (p.Trp304=) | |
13 | g.113149093G>T | CA388792745 | F10 | c.1043G>T (p.Trp348Leu) c.*34G>T (n.*34G>T) c.911G>T (p.Trp304Leu) | gnomAD v4 |
13 | g.113149094G>A | CA388792750 | F10 | c.1044G>A (p.Trp348Ter) c.*35G>A (n.*35G>A) c.912G>A (p.Trp304Ter) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149094G>C | CA388792752 | F10 | c.1044G>C (p.Trp348Cys) c.*35G>C (n.*35G>C) c.912G>C (p.Trp304Cys) | |
13 | g.113149094G= | CA2120140160 | F10 | c.1044G= (p.Trp348=) c.*35G= (n.*35G=) c.912G= (p.Trp304=) | |
13 | g.113149094G>T | CA388792755 | F10 | c.1044G>T (p.Trp348Cys) c.*35G>T (n.*35G>T) c.912G>T (p.Trp304Cys) | |
13 | g.113149095G>A | CA7060674 | F10 | c.1045G>A (p.Ala349Thr) c.*36G>A (n.*36G>A) c.913G>A (p.Ala305Thr) | dbSNP ExAC gnomAD v2 |
13 | g.113149095G>C | CA388792757 | F10 | c.1045G>C (p.Ala349Pro) c.*36G>C (n.*36G>C) c.913G>C (p.Ala305Pro) | |
13 | g.113149095G= | CA2120140163 | F10 | c.1045G= (p.Ala349=) c.*36G= (n.*36G=) c.913G= (p.Ala305=) | |
13 | g.113149095G>T | CA388792758 | F10 | c.1045G>T (p.Ala349Ser) c.*36G>T (n.*36G>T) c.913G>T (p.Ala305Ser) | |
13 | g.113149096C>A | CA388792766 | F10 | c.1046C>A (p.Ala349Asp) c.*37C>A (n.*37C>A) c.914C>A (p.Ala305Asp) | |
13 | g.113149096C>G | CA388792761 | F10 | c.1046C>G (p.Ala349Gly) c.*37C>G (n.*37C>G) c.914C>G (p.Ala305Gly) | |
13 | g.113149096C>T | CA388792764 | F10 | c.1046C>T (p.Ala349Val) c.*37C>T (n.*37C>T) c.914C>T (p.Ala305Val) | |
13 | g.113149097C>A | CA485424070 | F10 | c.1047C>A (p.Ala349=) c.*38C>A (n.*38C>A) c.915C>A (p.Ala305=) | gnomAD v4 |
13 | g.113149097C= | CA2120140166 | F10 | c.1047C= (p.Ala349=) c.*38C= (n.*38C=) c.915C= (p.Ala305=) | |
13 | g.113149097C>G | CA485424071 | F10 | c.1047C>G (p.Ala349=) c.*38C>G (n.*38C>G) c.915C>G (p.Ala305=) | gnomAD v4 |
13 | g.113149097C>T | CA256478678 | F10 | c.1047C>T (p.Ala349=) c.*38C>T (n.*38C>T) c.915C>T (p.Ala305=) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149098del | CA2623809576 | F10 | c.1048del (p.Glu350SerfsTer4) c.*39del (n.*39del) c.916del (p.Glu306SerfsTer4) | gnomAD v4 |
13 | g.113149098G>A | CA256478679 | F10 | c.1048G>A (p.Glu350Lys) c.*39G>A (n.*39G>A) c.916G>A (p.Glu306Lys) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.113149098G>C | CA388792770 | F10 | c.1048G>C (p.Glu350Gln) c.*39G>C (n.*39G>C) c.916G>C (p.Glu306Gln) | |
13 | g.113149098G= | CA2120140169 | F10 | c.1048G= (p.Glu350=) c.*39G= (n.*39G=) c.916G= (p.Glu306=) | |
13 | g.113149098G>T | CA388792773 | F10 | c.1048G>T (p.Glu350Ter) c.*39G>T (n.*39G>T) c.916G>T (p.Glu306Ter) | |
13 | g.113149099A>C | CA388792775 | F10 | c.1049A>C (p.Glu350Ala) c.*40A>C (n.*40A>C) c.917A>C (p.Glu306Ala) | |
13 | g.113149099A>G | CA388792778 | F10 | c.1049A>G (p.Glu350Gly) c.*40A>G (n.*40A>G) c.917A>G (p.Glu306Gly) | |
13 | g.113149099A>T | CA388792780 | F10 | c.1049A>T (p.Glu350Val) c.*40A>T (n.*40A>T) c.917A>T (p.Glu306Val) |