| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.191375329C>A | CA355764327 | CCDC50 | c.716C>A (p.Pro239His) c.449-4830C>A (n.449-4830C>A) | |
| 3 | g.191375329C>G | CA355764328 | CCDC50 | c.716C>G (p.Pro239Arg) c.449-4830C>G (n.449-4830C>G) | |
| 3 | g.191375329C>T | CA355764329 | CCDC50 | c.716C>T (p.Pro239Leu) c.449-4830C>T (n.449-4830C>T) | |
| 3 | g.191375330C>A | CA437637653 | CCDC50 | c.717C>A (p.Pro239=) c.449-4829C>A (n.449-4829C>A) | |
| 3 | g.191375330C= | CA1429222235 | CCDC50 | c.717C= (p.Pro239=) c.449-4829C= (n.449-4829C=) | |
| 3 | g.191375330C>G | CA89778677 | CCDC50 | c.717C>G (p.Pro239=) c.449-4829C>G (n.449-4829C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375330C>T | CA437637654 | CCDC50 | c.717C>T (p.Pro239=) c.449-4829C>T (n.449-4829C>T) | |
| 3 | g.191375331A= | CA1429222236 | CCDC50 | c.718A= (p.Thr240=) c.449-4828A= (n.449-4828A=) | |
| 3 | g.191375331A>C | CA355764330 | CCDC50 | c.718A>C (p.Thr240Pro) c.449-4828A>C (n.449-4828A>C) | |
| 3 | g.191375331A>G | CA2755313 | CCDC50 | c.718A>G (p.Thr240Ala) c.449-4828A>G (n.449-4828A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375331A>T | CA355764331 | CCDC50 | c.718A>T (p.Thr240Ser) c.449-4828A>T (n.449-4828A>T) | |
| 3 | g.191375332C>A | CA355764332 | CCDC50 | c.719C>A (p.Thr240Lys) c.449-4827C>A (n.449-4827C>A) | |
| 3 | g.191375332C= | CA1429222237 | CCDC50 | c.719C= (p.Thr240=) c.449-4827C= (n.449-4827C=) | |
| 3 | g.191375332C>G | CA355764333 | CCDC50 | c.719C>G (p.Thr240Arg) c.449-4827C>G (n.449-4827C>G) | |
| 3 | g.191375332C>T | CA2755314 | CCDC50 | c.719C>T (p.Thr240Met) c.449-4827C>T (n.449-4827C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375333G>A | CA437637658 | CCDC50 | c.720G>A (p.Thr240=) c.449-4826G>A (n.449-4826G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.191375333G>C | CA437637657 | CCDC50 | c.720G>C (p.Thr240=) c.449-4826G>C (n.449-4826G>C) | gnomAD v4 |
| 3 | g.191375333G= | CA1429222238 | CCDC50 | c.720G= (p.Thr240=) c.449-4826G= (n.449-4826G=) | |
| 3 | g.191375333G>T | CA2755315 | CCDC50 | c.720G>T (p.Thr240=) c.449-4826G>T (n.449-4826G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375334A= | CA1429222239 | CCDC50 | c.721A= (p.Ile241=) c.449-4825A= (n.449-4825A=) | |
| 3 | g.191375334A>C | CA355764334 | CCDC50 | c.721A>C (p.Ile241Leu) c.449-4825A>C (n.449-4825A>C) | |
| 3 | g.191375334A>G | CA355764335 | CCDC50 | c.721A>G (p.Ile241Val) c.449-4825A>G (n.449-4825A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375334A>T | CA355764336 | CCDC50 | c.721A>T (p.Ile241Phe) c.449-4825A>T (n.449-4825A>T) | |
| 3 | g.191375335T>A | CA355764337 | CCDC50 | c.722T>A (p.Ile241Asn) c.449-4824T>A (n.449-4824T>A) | |
| 3 | g.191375335T>C | CA355764338 | CCDC50 | c.722T>C (p.Ile241Thr) c.449-4824T>C (n.449-4824T>C) | dbSNP gnomAD v4 COSMIC |
| 3 | g.191375335T>G | CA355764339 | CCDC50 | c.722T>G (p.Ile241Ser) c.449-4824T>G (n.449-4824T>G) | |
| 3 | g.191375335T= | CA1429222240 | CCDC50 | c.722T= (p.Ile241=) c.449-4824T= (n.449-4824T=) | |
| 3 | g.191375336C>A | CA437637661 | CCDC50 | c.723C>A (p.Ile241=) c.449-4823C>A (n.449-4823C>A) | |
| 3 | g.191375336C>G | CA355764340 | CCDC50 | c.723C>G (p.Ile241Met) c.449-4823C>G (n.449-4823C>G) | |
| 3 | g.191375336C>T | CA437637663 | CCDC50 | c.723C>T (p.Ile241=) c.449-4823C>T (n.449-4823C>T) | COSMIC |
| 3 | g.191375337A= | CA1429222241 | CCDC50 | c.724A= (p.Ser242=) c.449-4822A= (n.449-4822A=) | |
| 3 | g.191375337A>C | CA355764341 | CCDC50 | c.724A>C (p.Ser242Arg) c.449-4822A>C (n.449-4822A>C) | |
| 3 | g.191375337A>G | CA89778680 | CCDC50 | c.724A>G (p.Ser242Gly) c.449-4822A>G (n.449-4822A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375337A>T | CA355764342 | CCDC50 | c.724A>T (p.Ser242Cys) c.449-4822A>T (n.449-4822A>T) | |
| 3 | g.191375338G>A | CA355764343 | CCDC50 | c.725G>A (p.Ser242Asn) c.449-4821G>A (n.449-4821G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375338G>C | CA355764344 | CCDC50 | c.725G>C (p.Ser242Thr) c.449-4821G>C (n.449-4821G>C) | |
| 3 | g.191375338G= | CA1429222242 | CCDC50 | c.725G= (p.Ser242=) c.449-4821G= (n.449-4821G=) | |
| 3 | g.191375338G>T | CA355764345 | CCDC50 | c.725G>T (p.Ser242Ile) c.449-4821G>T (n.449-4821G>T) | |
| 3 | g.191375339T>A | CA355764346 | CCDC50 | c.726T>A (p.Ser242Arg) c.449-4820T>A (n.449-4820T>A) | |
| 3 | g.191375339T>C | CA2755316 | CCDC50 | c.726T>C (p.Ser242=) c.449-4820T>C (n.449-4820T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375339T>G | CA355764347 | CCDC50 | c.726T>G (p.Ser242Arg) c.449-4820T>G (n.449-4820T>G) | |
| 3 | g.191375339T= | CA1429222243 | CCDC50 | c.726T= (p.Ser242=) c.449-4820T= (n.449-4820T=) | |
| 3 | g.191375340G>A | CA355764348 | CCDC50 | c.727G>A (p.Gly243Ser) c.449-4819G>A (n.449-4819G>A) | |
| 3 | g.191375340G>C | CA355764349 | CCDC50 | c.727G>C (p.Gly243Arg) c.449-4819G>C (n.449-4819G>C) | |
| 3 | g.191375340G>T | CA355764350 | CCDC50 | c.727G>T (p.Gly243Cys) c.449-4819G>T (n.449-4819G>T) | |
| 3 | g.191375341G>A | CA355764351 | CCDC50 | c.728G>A (p.Gly243Asp) c.449-4818G>A (n.449-4818G>A) | |
| 3 | g.191375341G>C | CA355764352 | CCDC50 | c.728G>C (p.Gly243Ala) c.449-4818G>C (n.449-4818G>C) | |
| 3 | g.191375341G>T | CA355764353 | CCDC50 | c.728G>T (p.Gly243Val) c.449-4818G>T (n.449-4818G>T) | |
| 3 | g.191375342T>A | CA437637670 | CCDC50 | c.729T>A (p.Gly243=) c.449-4817T>A (n.449-4817T>A) | |
| 3 | g.191375342T>C | CA437637671 | CCDC50 | c.729T>C (p.Gly243=) c.449-4817T>C (n.449-4817T>C) | |
| 3 | g.191375342T>G | CA437637672 | CCDC50 | c.729T>G (p.Gly243=) c.449-4817T>G (n.449-4817T>G) | |
| 3 | g.191375343G>A | CA355764356 | CCDC50 | c.730G>A (p.Glu244Lys) c.449-4816G>A (n.449-4816G>A) | gnomAD v4 |
| 3 | g.191375343G>C | CA355764354 | CCDC50 | c.730G>C (p.Glu244Gln) c.449-4816G>C (n.449-4816G>C) | |
| 3 | g.191375343G>T | CA355764355 | CCDC50 | c.730G>T (p.Glu244Ter) c.449-4816G>T (n.449-4816G>T) | |
| 3 | g.191375344A>C | CA355764357 | CCDC50 | c.731A>C (p.Glu244Ala) c.449-4815A>C (n.449-4815A>C) | |
| 3 | g.191375344A>G | CA355764358 | CCDC50 | c.731A>G (p.Glu244Gly) c.449-4815A>G (n.449-4815A>G) | |
| 3 | g.191375344A>T | CA355764359 | CCDC50 | c.731A>T (p.Glu244Val) c.449-4815A>T (n.449-4815A>T) | |
| 3 | g.191375345A= | CA1429222244 | CCDC50 | c.732A= (p.Glu244=) c.449-4814A= (n.449-4814A=) | |
| 3 | g.191375345A>C | CA355764360 | CCDC50 | c.732A>C (p.Glu244Asp) c.449-4814A>C (n.449-4814A>C) | |
| 3 | g.191375345A>G | CA437637677 | CCDC50 | c.732A>G (p.Glu244=) c.449-4814A>G (n.449-4814A>G) | dbSNP gnomAD v4 |
| 3 | g.191375345A>T | CA355764361 | CCDC50 | c.732A>T (p.Glu244Asp) c.449-4814A>T (n.449-4814A>T) | |
| 3 | g.191375346G>A | CA355764364 | CCDC50 | c.733G>A (p.Val245Met) c.449-4813G>A (n.449-4813G>A) | |
| 3 | g.191375346G>C | CA355764362 | CCDC50 | c.733G>C (p.Val245Leu) c.449-4813G>C (n.449-4813G>C) | |
| 3 | g.191375346G>T | CA355764363 | CCDC50 | c.733G>T (p.Val245Leu) c.449-4813G>T (n.449-4813G>T) | |
| 3 | g.191375347T>A | CA355764365 | CCDC50 | c.734T>A (p.Val245Glu) c.449-4812T>A (n.449-4812T>A) | |
| 3 | g.191375347T>C | CA355764366 | CCDC50 | c.734T>C (p.Val245Ala) c.449-4812T>C (n.449-4812T>C) | gnomAD v4 |
| 3 | g.191375347T>G | CA355764367 | CCDC50 | c.734T>G (p.Val245Gly) c.449-4812T>G (n.449-4812T>G) | |
| 3 | g.191375348G>A | CA437637682 | CCDC50 | c.735G>A (p.Val245=) c.449-4811G>A (n.449-4811G>A) | ClinVar gnomAD v4 |
| 3 | g.191375348G>C | CA437637683 | CCDC50 | c.735G>C (p.Val245=) c.449-4811G>C (n.449-4811G>C) | dbSNP |
| 3 | g.191375348G= | CA1429222245 | CCDC50 | c.735G= (p.Val245=) c.449-4811G= (n.449-4811G=) | |
| 3 | g.191375348G>T | CA437637684 | CCDC50 | c.735G>T (p.Val245=) c.449-4811G>T (n.449-4811G>T) | |
| 3 | g.191375349T>A | CA355764368 | CCDC50 | c.736T>A (p.Phe246Ile) c.449-4810T>A (n.449-4810T>A) | |
| 3 | g.191375349T>C | CA355764369 | CCDC50 | c.736T>C (p.Phe246Leu) c.449-4810T>C (n.449-4810T>C) | |
| 3 | g.191375349T>G | CA355764370 | CCDC50 | c.736T>G (p.Phe246Val) c.449-4810T>G (n.449-4810T>G) | |
| 3 | g.191375350T>A | CA355764371 | CCDC50 | c.737T>A (p.Phe246Tyr) c.449-4809T>A (n.449-4809T>A) | |
| 3 | g.191375350T>C | CA355764372 | CCDC50 | c.737T>C (p.Phe246Ser) c.449-4809T>C (n.449-4809T>C) | |
| 3 | g.191375350T>G | CA355764373 | CCDC50 | c.737T>G (p.Phe246Cys) c.449-4809T>G (n.449-4809T>G) | |
| 3 | g.191375351T>A | CA355764374 | CCDC50 | c.738T>A (p.Phe246Leu) c.449-4808T>A (n.449-4808T>A) | |
| 3 | g.191375351T>C | CA437637689 | CCDC50 | c.738T>C (p.Phe246=) c.449-4808T>C (n.449-4808T>C) | dbSNP gnomAD v4 |
| 3 | g.191375351T>G | CA355764375 | CCDC50 | c.738T>G (p.Phe246Leu) c.449-4808T>G (n.449-4808T>G) | |
| 3 | g.191375351T= | CA1429222246 | CCDC50 | c.738T= (p.Phe246=) c.449-4808T= (n.449-4808T=) | |
| 3 | g.191375352C>A | CA355764376 | CCDC50 | c.739C>A (p.Leu247Met) c.449-4807C>A (n.449-4807C>A) | |
| 3 | g.191375352C>G | CA355764377 | CCDC50 | c.739C>G (p.Leu247Val) c.449-4807C>G (n.449-4807C>G) | |
| 3 | g.191375352C>T | CA437637692 | CCDC50 | c.739C>T (p.Leu247=) c.449-4807C>T (n.449-4807C>T) | gnomAD v4 |
| 3 | g.191375353T>A | CA355764378 | CCDC50 | c.740T>A (p.Leu247Gln) c.449-4806T>A (n.449-4806T>A) | |
| 3 | g.191375353T>C | CA355764380 | CCDC50 | c.740T>C (p.Leu247Pro) c.449-4806T>C (n.449-4806T>C) | |
| 3 | g.191375353T>G | CA355764379 | CCDC50 | c.740T>G (p.Leu247Arg) c.449-4806T>G (n.449-4806T>G) | |
| 3 | g.191375354G>A | CA2755317 | CCDC50 | c.741G>A (p.Leu247=) c.449-4805G>A (n.449-4805G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375354G>C | CA437637697 | CCDC50 | c.741G>C (p.Leu247=) c.449-4805G>C (n.449-4805G>C) | |
| 3 | g.191375354G= | CA1429222247 | CCDC50 | c.741G= (p.Leu247=) c.449-4805G= (n.449-4805G=) | |
| 3 | g.191375354G>T | CA437637695 | CCDC50 | c.741G>T (p.Leu247=) c.449-4805G>T (n.449-4805G>T) | |
| 3 | g.191375355A= | CA1429222248 | CCDC50 | c.742A= (p.Ser248=) c.449-4804A= (n.449-4804A=) | |
| 3 | g.191375355A>C | CA355764381 | CCDC50 | c.742A>C (p.Ser248Arg) c.449-4804A>C (n.449-4804A>C) | dbSNP gnomAD v4 |
| 3 | g.191375355A>G | CA355764382 | CCDC50 | c.742A>G (p.Ser248Gly) c.449-4804A>G (n.449-4804A>G) | |
| 3 | g.191375355A>T | CA355764383 | CCDC50 | c.742A>T (p.Ser248Cys) c.449-4804A>T (n.449-4804A>T) | |
| 3 | g.191375356G>A | CA355764384 | CCDC50 | c.743G>A (p.Ser248Asn) c.449-4803G>A (n.449-4803G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.191375356G>C | CA355764385 | CCDC50 | c.743G>C (p.Ser248Thr) c.449-4803G>C (n.449-4803G>C) | |
| 3 | g.191375356G= | CA1429222249 | CCDC50 | c.743G= (p.Ser248=) c.449-4803G= (n.449-4803G=) | |
| 3 | g.191375356G>T | CA355764386 | CCDC50 | c.743G>T (p.Ser248Ile) c.449-4803G>T (n.449-4803G>T) | |
| 3 | g.191375357C>A | CA355764387 | CCDC50 | c.744C>A (p.Ser248Arg) c.449-4802C>A (n.449-4802C>A) | |
| 3 | g.191375357C= | CA1429222250 | CCDC50 | c.744C= (p.Ser248=) c.449-4802C= (n.449-4802C=) | |
| 3 | g.191375357C>G | CA355764388 | CCDC50 | c.744C>G (p.Ser248Arg) c.449-4802C>G (n.449-4802C>G) | |
| 3 | g.191375357C>T | CA2755318 | CCDC50 | c.744C>T (p.Ser248=) c.449-4802C>T (n.449-4802C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375358A= | CA1429222251 | CCDC50 | c.745A= (p.Thr249=) c.449-4801A= (n.449-4801A=) | |
| 3 | g.191375358A>C | CA355764389 | CCDC50 | c.745A>C (p.Thr249Pro) c.449-4801A>C (n.449-4801A>C) | dbSNP |
| 3 | g.191375358A>G | CA2755319 | CCDC50 | c.745A>G (p.Thr249Ala) c.449-4801A>G (n.449-4801A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375358A>T | CA355764390 | CCDC50 | c.745A>T (p.Thr249Ser) c.449-4801A>T (n.449-4801A>T) | |
| 3 | g.191375359C>A | CA355764393 | CCDC50 | c.746C>A (p.Thr249Asn) c.449-4800C>A (n.449-4800C>A) | |
| 3 | g.191375359C= | CA1429222252 | CCDC50 | c.746C= (p.Thr249=) c.449-4800C= (n.449-4800C=) | |
| 3 | g.191375359C>G | CA355764391 | CCDC50 | c.746C>G (p.Thr249Ser) c.449-4800C>G (n.449-4800C>G) | |
| 3 | g.191375359C>T | CA355764392 | CCDC50 | c.746C>T (p.Thr249Ile) c.449-4800C>T (n.449-4800C>T) | dbSNP gnomAD v2 |
| 3 | g.191375360T>A | CA437637710 | CCDC50 | c.747T>A (p.Thr249=) c.449-4799T>A (n.449-4799T>A) | |
| 3 | g.191375360T>C | CA437637711 | CCDC50 | c.747T>C (p.Thr249=) c.449-4799T>C (n.449-4799T>C) | |
| 3 | g.191375360T>G | CA437637712 | CCDC50 | c.747T>G (p.Thr249=) c.449-4799T>G (n.449-4799T>G) | |
| 3 | g.191375361G>A | CA355764394 | CCDC50 | c.748G>A (p.Glu250Lys) c.449-4798G>A (n.449-4798G>A) | gnomAD v4 |
| 3 | g.191375361G>C | CA355764395 | CCDC50 | c.748G>C (p.Glu250Gln) c.449-4798G>C (n.449-4798G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.191375361G>T | CA355764396 | CCDC50 | c.748G>T (p.Glu250Ter) c.449-4798G>T (n.449-4798G>T) | |
| 3 | g.191375362A= | CA1429222253 | CCDC50 | c.749A= (p.Glu250=) c.449-4797A= (n.449-4797A=) | |
| 3 | g.191375362A>C | CA355764397 | CCDC50 | c.749A>C (p.Glu250Ala) c.449-4797A>C (n.449-4797A>C) | gnomAD v4 |
| 3 | g.191375362A>G | CA175442 | CCDC50 | c.749A>G (p.Glu250Gly) c.449-4797A>G (n.449-4797A>G) | ClinVar dbSNP |
| 3 | g.191375362A>T | CA355764398 | CCDC50 | c.749A>T (p.Glu250Val) c.449-4797A>T (n.449-4797A>T) | |
| 3 | g.191375363A= | CA1429222254 | CCDC50 | c.750A= (p.Glu250=) c.449-4796A= (n.449-4796A=) | |
| 3 | g.191375363A>C | CA355764399 | CCDC50 | c.750A>C (p.Glu250Asp) c.449-4796A>C (n.449-4796A>C) | |
| 3 | g.191375363A>G | CA437637718 | CCDC50 | c.750A>G (p.Glu250=) c.449-4796A>G (n.449-4796A>G) | |
| 3 | g.191375363A>T | CA2755320 | CCDC50 | c.750A>T (p.Glu250Asp) c.449-4796A>T (n.449-4796A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375364T>A | CA355764400 | CCDC50 | c.751T>A (p.Cys251Ser) c.449-4795T>A (n.449-4795T>A) | |
| 3 | g.191375364T>C | CA355764401 | CCDC50 | c.751T>C (p.Cys251Arg) c.449-4795T>C (n.449-4795T>C) | |
| 3 | g.191375364T>G | CA355764402 | CCDC50 | c.751T>G (p.Cys251Gly) c.449-4795T>G (n.449-4795T>G) | |
| 3 | g.191375365G>A | CA2755321 | CCDC50 | c.752G>A (p.Cys251Tyr) c.449-4794G>A (n.449-4794G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375365G>C | CA355764403 | CCDC50 | c.752G>C (p.Cys251Ser) c.449-4794G>C (n.449-4794G>C) | |
| 3 | g.191375365G= | CA1429222255 | CCDC50 | c.752G= (p.Cys251=) c.449-4794G= (n.449-4794G=) | |
| 3 | g.191375365G>T | CA355764404 | CCDC50 | c.752G>T (p.Cys251Phe) c.449-4794G>T (n.449-4794G>T) | |
| 3 | g.191375366T>A | CA355764405 | CCDC50 | c.753T>A (p.Cys251Ter) c.449-4793T>A (n.449-4793T>A) | |
| 3 | g.191375366T>C | CA437637871 | CCDC50 | c.753T>C (p.Cys251=) c.449-4793T>C (n.449-4793T>C) | gnomAD v4 |
| 3 | g.191375366T>G | CA89778686 | CCDC50 | c.753T>G (p.Cys251Trp) c.449-4793T>G (n.449-4793T>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.191375366T= | CA1429222256 | CCDC50 | c.753T= (p.Cys251=) c.449-4793T= (n.449-4793T=) | |
| 3 | g.191375367G>A | CA355764406 | CCDC50 | c.754G>A (p.Asp252Asn) c.449-4792G>A (n.449-4792G>A) | |
| 3 | g.191375367G>C | CA2755322 | CCDC50 | c.754G>C (p.Asp252His) c.449-4792G>C (n.449-4792G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375367G= | CA1429222257 | CCDC50 | c.754G= (p.Asp252=) c.449-4792G= (n.449-4792G=) | |
| 3 | g.191375367G>T | CA355764407 | CCDC50 | c.754G>T (p.Asp252Tyr) c.449-4792G>T (n.449-4792G>T) | |
| 3 | g.191375368A>C | CA355764408 | CCDC50 | c.755A>C (p.Asp252Ala) c.449-4791A>C (n.449-4791A>C) | |
| 3 | g.191375368A>G | CA355764409 | CCDC50 | c.755A>G (p.Asp252Gly) c.449-4791A>G (n.449-4791A>G) | gnomAD v4 |
| 3 | g.191375368A>T | CA355764410 | CCDC50 | c.755A>T (p.Asp252Val) c.449-4791A>T (n.449-4791A>T) | |
| 3 | g.191375369T>A | CA355764411 | CCDC50 | c.756T>A (p.Asp252Glu) c.449-4790T>A (n.449-4790T>A) | |
| 3 | g.191375369T>C | CA437637882 | CCDC50 | c.756T>C (p.Asp252=) c.449-4790T>C (n.449-4790T>C) | |
| 3 | g.191375369T>G | CA355764412 | CCDC50 | c.756T>G (p.Asp252Glu) c.449-4790T>G (n.449-4790T>G) | |
| 3 | g.191375370G>A | CA355764413 | CCDC50 | c.757G>A (p.Asp253Asn) c.449-4789G>A (n.449-4789G>A) | |
| 3 | g.191375370G>C | CA355764414 | CCDC50 | c.757G>C (p.Asp253His) c.449-4789G>C (n.449-4789G>C) | |
| 3 | g.191375370G>T | CA355764415 | CCDC50 | c.757G>T (p.Asp253Tyr) c.449-4789G>T (n.449-4789G>T) | |
| 3 | g.191375371del | CA2759894814 | CCDC50 | c.758del (p.Asp253AlafsTer?) c.449-4788del (n.449-4788del) | |
| 3 | g.191375371A>C | CA355764416 | CCDC50 | c.758A>C (p.Asp253Ala) c.449-4788A>C (n.449-4788A>C) | |
| 3 | g.191375371A>G | CA355764417 | CCDC50 | c.758A>G (p.Asp253Gly) c.449-4788A>G (n.449-4788A>G) | |
| 3 | g.191375371A>T | CA355764418 | CCDC50 | c.758A>T (p.Asp253Val) c.449-4788A>T (n.449-4788A>T) | |
| 3 | g.191375372C>A | CA355764419 | CCDC50 | c.759C>A (p.Asp253Glu) c.449-4787C>A (n.449-4787C>A) | ClinVar dbSNP |
| 3 | g.191375372C= | CA1429222258 | CCDC50 | c.759C= (p.Asp253=) c.449-4787C= (n.449-4787C=) | |
| 3 | g.191375372C>G | CA2755324 | CCDC50 | c.759C>G (p.Asp253Glu) c.449-4787C>G (n.449-4787C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375372C>T | CA2755323 | CCDC50 | c.759C>T (p.Asp253=) c.449-4787C>T (n.449-4787C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375373T>A | CA355764420 | CCDC50 | c.760T>A (p.Trp254Arg) c.449-4786T>A (n.449-4786T>A) | |
| 3 | g.191375373T>C | CA355764421 | CCDC50 | c.760T>C (p.Trp254Arg) c.449-4786T>C (n.449-4786T>C) | |
| 3 | g.191375373T>G | CA355764422 | CCDC50 | c.760T>G (p.Trp254Gly) c.449-4786T>G (n.449-4786T>G) | |
| 3 | g.191375374G>A | CA355764423 | CCDC50 | c.761G>A (p.Trp254Ter) c.449-4785G>A (n.449-4785G>A) | dbSNP gnomAD v4 |
| 3 | g.191375374G>C | CA355764424 | CCDC50 | c.761G>C (p.Trp254Ser) c.449-4785G>C (n.449-4785G>C) | |
| 3 | g.191375374G= | CA1429222259 | CCDC50 | c.761G= (p.Trp254=) c.449-4785G= (n.449-4785G=) | |
| 3 | g.191375374G>T | CA355764425 | CCDC50 | c.761G>T (p.Trp254Leu) c.449-4785G>T (n.449-4785G>T) | |
| 3 | g.191375375G>A | CA2755325 | CCDC50 | c.762G>A (p.Trp254Ter) c.449-4784G>A (n.449-4784G>A) | dbSNP ExAC gnomAD v2 |
| 3 | g.191375375G>C | CA355764426 | CCDC50 | c.762G>C (p.Trp254Cys) c.449-4784G>C (n.449-4784G>C) | |
| 3 | g.191375375G= | CA1429222260 | CCDC50 | c.762G= (p.Trp254=) c.449-4784G= (n.449-4784G=) | |
| 3 | g.191375375G>T | CA355764427 | CCDC50 | c.762G>T (p.Trp254Cys) c.449-4784G>T (n.449-4784G>T) | |
| 3 | g.191375376G>A | CA355764428 | CCDC50 | c.763G>A (p.Glu255Lys) c.449-4783G>A (n.449-4783G>A) | dbSNP |
| 3 | g.191375376G>C | CA355764429 | CCDC50 | c.763G>C (p.Glu255Gln) c.449-4783G>C (n.449-4783G>C) | |
| 3 | g.191375376G>T | CA355764430 | CCDC50 | c.763G>T (p.Glu255Ter) c.449-4783G>T (n.449-4783G>T) | gnomAD v4 |
| 3 | g.191375377A>C | CA355764433 | CCDC50 | c.764A>C (p.Glu255Ala) c.449-4782A>C (n.449-4782A>C) | |
| 3 | g.191375377A>G | CA355764432 | CCDC50 | c.764A>G (p.Glu255Gly) c.449-4782A>G (n.449-4782A>G) | COSMIC |
| 3 | g.191375377A>T | CA355764431 | CCDC50 | c.764A>T (p.Glu255Val) c.449-4782A>T (n.449-4782A>T) | |
| 3 | g.191375378G>A | CA437637923 | CCDC50 | c.765G>A (p.Glu255=) c.449-4781G>A (n.449-4781G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375378G>C | CA355764434 | CCDC50 | c.765G>C (p.Glu255Asp) c.449-4781G>C (n.449-4781G>C) | |
| 3 | g.191375378G= | CA1429222261 | CCDC50 | c.765G= (p.Glu255=) c.449-4781G= (n.449-4781G=) | |
| 3 | g.191375378G>T | CA89778691 | CCDC50 | c.765G>T (p.Glu255Asp) c.449-4781G>T (n.449-4781G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375379A>C | CA355764435 | CCDC50 | c.766A>C (p.Thr256Pro) c.449-4780A>C (n.449-4780A>C) | |
| 3 | g.191375379A>G | CA355764436 | CCDC50 | c.766A>G (p.Thr256Ala) c.449-4780A>G (n.449-4780A>G) | |
| 3 | g.191375379A>T | CA355764437 | CCDC50 | c.766A>T (p.Thr256Ser) c.449-4780A>T (n.449-4780A>T) | |
| 3 | g.191375380C>A | CA355764438 | CCDC50 | c.767C>A (p.Thr256Asn) c.449-4779C>A (n.449-4779C>A) | |
| 3 | g.191375380C>G | CA355764439 | CCDC50 | c.767C>G (p.Thr256Ser) c.449-4779C>G (n.449-4779C>G) | |
| 3 | g.191375380C>T | CA355764440 | CCDC50 | c.767C>T (p.Thr256Ile) c.449-4779C>T (n.449-4779C>T) | |
| 3 | g.191375381T>A | CA437637928 | CCDC50 | c.768T>A (p.Thr256=) c.449-4778T>A (n.449-4778T>A) | |
| 3 | g.191375381T>C | CA437637926 | CCDC50 | c.768T>C (p.Thr256=) c.449-4778T>C (n.449-4778T>C) | |
| 3 | g.191375381T>G | CA437637927 | CCDC50 | c.768T>G (p.Thr256=) c.449-4778T>G (n.449-4778T>G) | |
| 3 | g.191375382A= | CA1429222262 | CCDC50 | c.769A= (p.Lys257=) c.449-4777A= (n.449-4777A=) | |
| 3 | g.191375382A>C | CA355764441 | CCDC50 | c.769A>C (p.Lys257Gln) c.449-4777A>C (n.449-4777A>C) | |
| 3 | g.191375382A>G | CA355764442 | CCDC50 | c.769A>G (p.Lys257Glu) c.449-4777A>G (n.449-4777A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375382A>T | CA355764443 | CCDC50 | c.769A>T (p.Lys257Ter) c.449-4777A>T (n.449-4777A>T) | |
| 3 | g.191375383A>C | CA355764444 | CCDC50 | c.770A>C (p.Lys257Thr) c.449-4776A>C (n.449-4776A>C) | |
| 3 | g.191375383A>G | CA355764445 | CCDC50 | c.770A>G (p.Lys257Arg) c.449-4776A>G (n.449-4776A>G) | |
| 3 | g.191375383A>T | CA355764446 | CCDC50 | c.770A>T (p.Lys257Met) c.449-4776A>T (n.449-4776A>T) | |
| 3 | g.191375384G>A | CA437637933 | CCDC50 | c.771G>A (p.Lys257=) c.449-4775G>A (n.449-4775G>A) | |
| 3 | g.191375384G>C | CA355764447 | CCDC50 | c.771G>C (p.Lys257Asn) c.449-4775G>C (n.449-4775G>C) | |
| 3 | g.191375384G>T | CA355764448 | CCDC50 | c.771G>T (p.Lys257Asn) c.449-4775G>T (n.449-4775G>T) | |
| 3 | g.191375385A= | CA1429222263 | CCDC50 | c.772A= (p.Ile258=) c.449-4774A= (n.449-4774A=) | |
| 3 | g.191375385A>C | CA355764449 | CCDC50 | c.772A>C (p.Ile258Leu) c.449-4774A>C (n.449-4774A>C) | |
| 3 | g.191375385A>G | CA2755326 | CCDC50 | c.772A>G (p.Ile258Val) c.449-4774A>G (n.449-4774A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375385A>T | CA355764450 | CCDC50 | c.772A>T (p.Ile258Phe) c.449-4774A>T (n.449-4774A>T) | gnomAD v4 |
| 3 | g.191375386T>A | CA142721 | CCDC50 | c.773T>A (p.Ile258Asn) c.449-4773T>A (n.449-4773T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375386T>C | CA355764451 | CCDC50 | c.773T>C (p.Ile258Thr) c.449-4773T>C (n.449-4773T>C) | |
| 3 | g.191375386T>G | CA2755327 | CCDC50 | c.773T>G (p.Ile258Ser) c.449-4773T>G (n.449-4773T>G) | dbSNP ExAC gnomAD v2 |
| 3 | g.191375386T= | CA1429222264 | CCDC50 | c.773T= (p.Ile258=) c.449-4773T= (n.449-4773T=) | |
| 3 | g.191375387T>A | CA437637942 | CCDC50 | c.774T>A (p.Ile258=) c.449-4772T>A (n.449-4772T>A) | |
| 3 | g.191375387T>C | CA437637943 | CCDC50 | c.774T>C (p.Ile258=) c.449-4772T>C (n.449-4772T>C) | gnomAD v4 |
| 3 | g.191375387T>G | CA355764452 | CCDC50 | c.774T>G (p.Ile258Met) c.449-4772T>G (n.449-4772T>G) | |
| 3 | g.191375388A>C | CA355764453 | CCDC50 | c.775A>C (p.Asn259His) c.449-4771A>C (n.449-4771A>C) | |
| 3 | g.191375388A>G | CA355764454 | CCDC50 | c.775A>G (p.Asn259Asp) c.449-4771A>G (n.449-4771A>G) | |
| 3 | g.191375388A>T | CA355764455 | CCDC50 | c.775A>T (p.Asn259Tyr) c.449-4771A>T (n.449-4771A>T) | |
| 3 | g.191375389A= | CA1429222265 | CCDC50 | c.776A= (p.Asn259=) c.449-4770A= (n.449-4770A=) | |
| 3 | g.191375389A>C | CA355764456 | CCDC50 | c.776A>C (p.Asn259Thr) c.449-4770A>C (n.449-4770A>C) | |
| 3 | g.191375389A>G | CA355764457 | CCDC50 | c.776A>G (p.Asn259Ser) c.449-4770A>G (n.449-4770A>G) | |
| 3 | g.191375389A>T | CA355764458 | CCDC50 | c.776A>T (p.Asn259Ile) c.449-4770A>T (n.449-4770A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375390C>A | CA355764459 | CCDC50 | c.777C>A (p.Asn259Lys) c.449-4769C>A (n.449-4769C>A) | |
| 3 | g.191375390C>G | CA355764460 | CCDC50 | c.777C>G (p.Asn259Lys) c.449-4769C>G (n.449-4769C>G) | |
| 3 | g.191375390C>T | CA437637962 | CCDC50 | c.777C>T (p.Asn259=) c.449-4769C>T (n.449-4769C>T) | gnomAD v4 |
| 3 | g.191375390_191375391insTAAT | CA658820634 | CCDC50 | c.777_778insTAAT (p.His260Ter) c.449-4769_449-4768insTAAT (n.449-4769_449-4768insTAAT) | |
| 3 | g.191375391C>A | CA355764461 | CCDC50 | c.778C>A (p.His260Asn) c.449-4768C>A (n.449-4768C>A) | |
| 3 | g.191375391C>G | CA355764462 | CCDC50 | c.778C>G (p.His260Asp) c.449-4768C>G (n.449-4768C>G) | |
| 3 | g.191375391C>T | CA355764463 | CCDC50 | c.778C>T (p.His260Tyr) c.449-4768C>T (n.449-4768C>T) | gnomAD v4 |
| 3 | g.191375392A>C | CA355764464 | CCDC50 | c.779A>C (p.His260Pro) c.449-4767A>C (n.449-4767A>C) | gnomAD v4 |
| 3 | g.191375392A>G | CA355764465 | CCDC50 | c.779A>G (p.His260Arg) c.449-4767A>G (n.449-4767A>G) | gnomAD v4 |
| 3 | g.191375392A>T | CA355764466 | CCDC50 | c.779A>T (p.His260Leu) c.449-4767A>T (n.449-4767A>T) | |
| 3 | g.191375393T>A | CA355764467 | CCDC50 | c.780T>A (p.His260Gln) c.449-4766T>A (n.449-4766T>A) | |
| 3 | g.191375393T>C | CA437637976 | CCDC50 | c.780T>C (p.His260=) c.449-4766T>C (n.449-4766T>C) | |
| 3 | g.191375393T>G | CA355764468 | CCDC50 | c.780T>G (p.His260Gln) c.449-4766T>G (n.449-4766T>G) | |
| 3 | g.191375394C>A | CA355764469 | CCDC50 | c.781C>A (p.Gln261Lys) c.449-4765C>A (n.449-4765C>A) | |
| 3 | g.191375394C>G | CA355764470 | CCDC50 | c.781C>G (p.Gln261Glu) c.449-4765C>G (n.449-4765C>G) | |
| 3 | g.191375394C>T | CA355764471 | CCDC50 | c.781C>T (p.Gln261Ter) c.449-4765C>T (n.449-4765C>T) | |
| 3 | g.191375395A= | CA1429222266 | CCDC50 | c.782A= (p.Gln261=) c.449-4764A= (n.449-4764A=) | |
| 3 | g.191375395A>C | CA355764472 | CCDC50 | c.782A>C (p.Gln261Pro) c.449-4764A>C (n.449-4764A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375395A>G | CA355764473 | CCDC50 | c.782A>G (p.Gln261Arg) c.449-4764A>G (n.449-4764A>G) | gnomAD v4 |
| 3 | g.191375395A>T | CA355764474 | CCDC50 | c.782A>T (p.Gln261Leu) c.449-4764A>T (n.449-4764A>T) | |
| 3 | g.191375396G>A | CA437637985 | CCDC50 | c.783G>A (p.Gln261=) c.449-4763G>A (n.449-4763G>A) | dbSNP gnomAD v4 |
| 3 | g.191375396G>C | CA355764475 | CCDC50 | c.783G>C (p.Gln261His) c.449-4763G>C (n.449-4763G>C) | |
| 3 | g.191375396G= | CA1429222267 | CCDC50 | c.783G= (p.Gln261=) c.449-4763G= (n.449-4763G=) | |
| 3 | g.191375396G>T | CA2755328 | CCDC50 | c.783G>T (p.Gln261His) c.449-4763G>T (n.449-4763G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375397A>C | CA355764476 | CCDC50 | c.784A>C (p.Thr262Pro) c.449-4762A>C (n.449-4762A>C) | |
| 3 | g.191375397A>G | CA355764477 | CCDC50 | c.784A>G (p.Thr262Ala) c.449-4762A>G (n.449-4762A>G) | |
| 3 | g.191375397A>T | CA355764478 | CCDC50 | c.784A>T (p.Thr262Ser) c.449-4762A>T (n.449-4762A>T) | |
| 3 | g.191375397_191375398insTAGAGCTTGACTGG | CA2669072418 | CCDC50 | c.784_785insTAGAGCTTGACTGG (p.Thr262IlefsTer?) c.449-4762_449-4761insTAGAGCTTGACTGG (n.449-4762_449-4761insTAGAGCTTGACTGG) | gnomAD v4 |
| 3 | g.191375398C>A | CA355764479 | CCDC50 | c.785C>A (p.Thr262Asn) c.449-4761C>A (n.449-4761C>A) | gnomAD v4 |
| 3 | g.191375398C>G | CA355764480 | CCDC50 | c.785C>G (p.Thr262Ser) c.449-4761C>G (n.449-4761C>G) | gnomAD v4 |
| 3 | g.191375398C>T | CA355764481 | CCDC50 | c.785C>T (p.Thr262Ile) c.449-4761C>T (n.449-4761C>T) | |
| 3 | g.191375399T>A | CA437637999 | CCDC50 | c.786T>A (p.Thr262=) c.449-4760T>A (n.449-4760T>A) | |
| 3 | g.191375399T>C | CA437638000 | CCDC50 | c.786T>C (p.Thr262=) c.449-4760T>C (n.449-4760T>C) | |
| 3 | g.191375399T>G | CA437638002 | CCDC50 | c.786T>G (p.Thr262=) c.449-4760T>G (n.449-4760T>G) | gnomAD v4 |
| 3 | g.191375400C>A | CA437638003 | CCDC50 | c.787C>A (p.Arg263=) c.449-4759C>A (n.449-4759C>A) | |
| 3 | g.191375400C= | CA1429222268 | CCDC50 | c.787C= (p.Arg263=) c.449-4759C= (n.449-4759C=) | |
| 3 | g.191375400C>G | CA89778694 | CCDC50 | c.787C>G (p.Arg263Gly) c.449-4759C>G (n.449-4759C>G) | dbSNP gnomAD v4 COSMIC |
| 3 | g.191375400C>T | CA2755329 | CCDC50 | c.787C>T (p.Arg263Ter) c.449-4759C>T (n.449-4759C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375401G>A | CA355764482 | CCDC50 | c.788G>A (p.Arg263Gln) c.449-4758G>A (n.449-4758G>A) | dbSNP gnomAD v4 COSMIC |
| 3 | g.191375401G>C | CA2755330 | CCDC50 | c.788G>C (p.Arg263Pro) c.449-4758G>C (n.449-4758G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375401G= | CA1429222269 | CCDC50 | c.788G= (p.Arg263=) c.449-4758G= (n.449-4758G=) | |
| 3 | g.191375401G>T | CA355764483 | CCDC50 | c.788G>T (p.Arg263Leu) c.449-4758G>T (n.449-4758G>T) | |
| 3 | g.191375402A>C | CA437638011 | CCDC50 | c.789A>C (p.Arg263=) c.449-4757A>C (n.449-4757A>C) | |
| 3 | g.191375402A>G | CA437638008 | CCDC50 | c.789A>G (p.Arg263=) c.449-4757A>G (n.449-4757A>G) | |
| 3 | g.191375402A>T | CA437638010 | CCDC50 | c.789A>T (p.Arg263=) c.449-4757A>T (n.449-4757A>T) | gnomAD v4 |
| 3 | g.191375403A>C | CA355764484 | CCDC50 | c.790A>C (p.Asn264His) c.449-4756A>C (n.449-4756A>C) | |
| 3 | g.191375403A>G | CA355764485 | CCDC50 | c.790A>G (p.Asn264Asp) c.449-4756A>G (n.449-4756A>G) | |
| 3 | g.191375403A>T | CA355764486 | CCDC50 | c.790A>T (p.Asn264Tyr) c.449-4756A>T (n.449-4756A>T) | |
| 3 | g.191375404A= | CA1429222270 | CCDC50 | c.791A= (p.Asn264=) c.449-4755A= (n.449-4755A=) | |
| 3 | g.191375404A>C | CA355764487 | CCDC50 | c.791A>C (p.Asn264Thr) c.449-4755A>C (n.449-4755A>C) | |
| 3 | g.191375404A>G | CA2755331 | CCDC50 | c.791A>G (p.Asn264Ser) c.449-4755A>G (n.449-4755A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375404A>T | CA355764488 | CCDC50 | c.791A>T (p.Asn264Ile) c.449-4755A>T (n.449-4755A>T) | |
| 3 | g.191375405T>A | CA355764489 | CCDC50 | c.792T>A (p.Asn264Lys) c.449-4754T>A (n.449-4754T>A) | |
| 3 | g.191375405T>C | CA437638019 | CCDC50 | c.792T>C (p.Asn264=) c.449-4754T>C (n.449-4754T>C) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.191375405T>G | CA355764490 | CCDC50 | c.792T>G (p.Asn264Lys) c.449-4754T>G (n.449-4754T>G) | |
| 3 | g.191375405T= | CA1429222271 | CCDC50 | c.792T= (p.Asn264=) c.449-4754T= (n.449-4754T=) | |
| 3 | g.191375406T>A | CA355764491 | CCDC50 | c.793T>A (p.Trp265Arg) c.449-4753T>A (n.449-4753T>A) | |
| 3 | g.191375406T>C | CA355764492 | CCDC50 | c.793T>C (p.Trp265Arg) c.449-4753T>C (n.449-4753T>C) | |
| 3 | g.191375406T>G | CA355764493 | CCDC50 | c.793T>G (p.Trp265Gly) c.449-4753T>G (n.449-4753T>G) | |
| 3 | g.191375407G>A | CA355764496 | CCDC50 | c.794G>A (p.Trp265Ter) c.449-4752G>A (n.449-4752G>A) | |
| 3 | g.191375407G>C | CA355764495 | CCDC50 | c.794G>C (p.Trp265Ser) c.449-4752G>C (n.449-4752G>C) | |
| 3 | g.191375407G>T | CA355764494 | CCDC50 | c.794G>T (p.Trp265Leu) c.449-4752G>T (n.449-4752G>T) | |
| 3 | g.191375408G>A | CA355764497 | CCDC50 | c.795G>A (p.Trp265Ter) c.449-4751G>A (n.449-4751G>A) | dbSNP |
| 3 | g.191375408G>C | CA355764498 | CCDC50 | c.795G>C (p.Trp265Cys) c.449-4751G>C (n.449-4751G>C) | |
| 3 | g.191375408G= | CA1429222272 | CCDC50 | c.795G= (p.Trp265=) c.449-4751G= (n.449-4751G=) | |
| 3 | g.191375408G>T | CA355764499 | CCDC50 | c.795G>T (p.Trp265Cys) c.449-4751G>T (n.449-4751G>T) | |
| 3 | g.191375409G>A | CA355764500 | CCDC50 | c.796G>A (p.Glu266Lys) c.449-4750G>A (n.449-4750G>A) | gnomAD v4 |
| 3 | g.191375409G>C | CA2755332 | CCDC50 | c.796G>C (p.Glu266Gln) c.449-4750G>C (n.449-4750G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375409G= | CA1429222273 | CCDC50 | c.796G= (p.Glu266=) c.449-4750G= (n.449-4750G=) | |
| 3 | g.191375409G>T | CA355764501 | CCDC50 | c.796G>T (p.Glu266Ter) c.449-4750G>T (n.449-4750G>T) | gnomAD v4 |
| 3 | g.191375409_191375411delinsGAA | CA1429222274 | CCDC50 | c.796_798delinsGAA (p.Glu266=) c.449-4750_449-4748delinsGAA (n.449-4750_449-4748delinsGAA) | |
| 3 | g.191375410A= | CA1429222275 | CCDC50 | c.797A= (p.Glu266=) c.449-4749A= (n.449-4749A=) | |
| 3 | g.191375410A>C | CA355764502 | CCDC50 | c.797A>C (p.Glu266Ala) c.449-4749A>C (n.449-4749A>C) | |
| 3 | g.191375410A>G | CA89778698 | CCDC50 | c.797A>G (p.Glu266Gly) c.449-4749A>G (n.449-4749A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375410A>T | CA355764503 | CCDC50 | c.797A>T (p.Glu266Val) c.449-4749A>T (n.449-4749A>T) | |
| 3 | g.191375413_191375414del | CA904369061 | CCDC50 | c.800_801del (p.Lys267ThrfsTer?) c.449-4746_449-4745del (n.449-4746_449-4745del) | dbSNP gnomAD v4 |
| 3 | g.191375411A>C | CA355764504 | CCDC50 | c.798A>C (p.Glu266Asp) c.449-4748A>C (n.449-4748A>C) | |
| 3 | g.191375411A>G | CA437638034 | CCDC50 | c.798A>G (p.Glu266=) c.449-4748A>G (n.449-4748A>G) | |
| 3 | g.191375411A>T | CA355764505 | CCDC50 | c.798A>T (p.Glu266Asp) c.449-4748A>T (n.449-4748A>T) | gnomAD v4 |
| 3 | g.191375412A= | CA1429222276 | CCDC50 | c.799A= (p.Lys267=) c.449-4747A= (n.449-4747A=) | |
| 3 | g.191375412A>C | CA355764506 | CCDC50 | c.799A>C (p.Lys267Gln) c.449-4747A>C (n.449-4747A>C) | |
| 3 | g.191375412A>G | CA355764507 | CCDC50 | c.799A>G (p.Lys267Glu) c.449-4747A>G (n.449-4747A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375412A>T | CA355764508 | CCDC50 | c.799A>T (p.Lys267Ter) c.449-4747A>T (n.449-4747A>T) | |
| 3 | g.191375413A= | CA1429222277 | CCDC50 | c.800A= (p.Lys267=) c.449-4746A= (n.449-4746A=) | |
| 3 | g.191375413A>C | CA355764509 | CCDC50 | c.800A>C (p.Lys267Thr) c.449-4746A>C (n.449-4746A>C) | |
| 3 | g.191375413A>G | CA2755333 | CCDC50 | c.800A>G (p.Lys267Arg) c.449-4746A>G (n.449-4746A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375413A>T | CA355764510 | CCDC50 | c.800A>T (p.Lys267Ile) c.449-4746A>T (n.449-4746A>T) | |
| 3 | g.191375414A>C | CA355764511 | CCDC50 | c.801A>C (p.Lys267Asn) c.449-4745A>C (n.449-4745A>C) | |
| 3 | g.191375414A>G | CA437638047 | CCDC50 | c.801A>G (p.Lys267=) c.449-4745A>G (n.449-4745A>G) | |
| 3 | g.191375414A>T | CA355764512 | CCDC50 | c.801A>T (p.Lys267Asn) c.449-4745A>T (n.449-4745A>T) | |
| 3 | g.191375415_191375416del | CA2669072421 | CCDC50 | c.802_803del (p.Gln268ValfsTer?) c.449-4744_449-4743del (n.449-4744_449-4743del) | gnomAD v4 |
| 3 | g.191375415C>A | CA355764513 | CCDC50 | c.802C>A (p.Gln268Lys) c.449-4744C>A (n.449-4744C>A) | gnomAD v4 |
| 3 | g.191375415C= | CA1429222278 | CCDC50 | c.802C= (p.Gln268=) c.449-4744C= (n.449-4744C=) | |
| 3 | g.191375415C>G | CA355764515 | CCDC50 | c.802C>G (p.Gln268Glu) c.449-4744C>G (n.449-4744C>G) | gnomAD v4 |
| 3 | g.191375415C>T | CA355764514 | CCDC50 | c.802C>T (p.Gln268Ter) c.449-4744C>T (n.449-4744C>T) | gnomAD v4 |
| 3 | g.191375416A= | CA1429222279 | CCDC50 | c.803A= (p.Gln268=) c.449-4743A= (n.449-4743A=) | |
| 3 | g.191375416A>C | CA355764517 | CCDC50 | c.803A>C (p.Gln268Pro) c.449-4743A>C (n.449-4743A>C) | |
| 3 | g.191375416A>G | CA2755335 | CCDC50 | c.803A>G (p.Gln268Arg) c.449-4743A>G (n.449-4743A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375416A>T | CA355764516 | CCDC50 | c.803A>T (p.Gln268Leu) c.449-4743A>T (n.449-4743A>T) | |
| 3 | g.191375416dup | CA2755334 | CCDC50 | c.803dup (p.Ser269ValfsTer?) c.449-4743dup (n.449-4743dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375417G>A | CA10576612 | CCDC50 | c.804G>A (p.Gln268=) c.449-4742G>A (n.449-4742G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375417G>C | CA355764518 | CCDC50 | c.804G>C (p.Gln268His) c.449-4742G>C (n.449-4742G>C) | |
| 3 | g.191375417G= | CA1429222280 | CCDC50 | c.804G= (p.Gln268=) c.449-4742G= (n.449-4742G=) | |
| 3 | g.191375417G>T | CA355764519 | CCDC50 | c.804G>T (p.Gln268His) c.449-4742G>T (n.449-4742G>T) | |
| 3 | g.191375418T>A | CA355764520 | CCDC50 | c.805T>A (p.Ser269Thr) c.449-4741T>A (n.449-4741T>A) | |
| 3 | g.191375418T>C | CA355764521 | CCDC50 | c.805T>C (p.Ser269Pro) c.449-4741T>C (n.449-4741T>C) | gnomAD v4 |
| 3 | g.191375418T>G | CA355764522 | CCDC50 | c.805T>G (p.Ser269Ala) c.449-4741T>G (n.449-4741T>G) | |
| 3 | g.191375419C>A | CA355764523 | CCDC50 | c.806C>A (p.Ser269Tyr) c.449-4740C>A (n.449-4740C>A) | |
| 3 | g.191375419C>G | CA355764524 | CCDC50 | c.806C>G (p.Ser269Cys) c.449-4740C>G (n.449-4740C>G) | gnomAD v4 |
| 3 | g.191375419C>T | CA355764525 | CCDC50 | c.806C>T (p.Ser269Phe) c.449-4740C>T (n.449-4740C>T) | |
| 3 | g.191375420T>A | CA437638065 | CCDC50 | c.807T>A (p.Ser269=) c.449-4739T>A (n.449-4739T>A) | |
| 3 | g.191375420T>C | CA437638066 | CCDC50 | c.807T>C (p.Ser269=) c.449-4739T>C (n.449-4739T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375420T>G | CA437638068 | CCDC50 | c.807T>G (p.Ser269=) c.449-4739T>G (n.449-4739T>G) | |
| 3 | g.191375420T= | CA1429222281 | CCDC50 | c.807T= (p.Ser269=) c.449-4739T= (n.449-4739T=) | |
| 3 | g.191375421C>A | CA437638069 | CCDC50 | c.808C>A (p.Arg270=) c.449-4738C>A (n.449-4738C>A) | |
| 3 | g.191375421C= | CA1429222282 | CCDC50 | c.808C= (p.Arg270=) c.449-4738C= (n.449-4738C=) | |
| 3 | g.191375421C>G | CA2755337 | CCDC50 | c.808C>G (p.Arg270Gly) c.449-4738C>G (n.449-4738C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375421C>T | CA2755336 | CCDC50 | c.808C>T (p.Arg270Ter) c.449-4738C>T (n.449-4738C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375422G>A | CA355764526 | CCDC50 | c.809G>A (p.Arg270Gln) c.449-4737G>A (n.449-4737G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.191375422G>C | CA355764527 | CCDC50 | c.809G>C (p.Arg270Pro) c.449-4737G>C (n.449-4737G>C) | |
| 3 | g.191375422G= | CA1429222283 | CCDC50 | c.809G= (p.Arg270=) c.449-4737G= (n.449-4737G=) | |
| 3 | g.191375422G>T | CA355764528 | CCDC50 | c.809G>T (p.Arg270Leu) c.449-4737G>T (n.449-4737G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375423A>C | CA437638075 | CCDC50 | c.810A>C (p.Arg270=) c.449-4736A>C (n.449-4736A>C) | |
| 3 | g.191375423A>G | CA437638076 | CCDC50 | c.810A>G (p.Arg270=) c.449-4736A>G (n.449-4736A>G) | |
| 3 | g.191375423A>T | CA437638077 | CCDC50 | c.810A>T (p.Arg270=) c.449-4736A>T (n.449-4736A>T) | |
| 3 | g.191375424C>A | CA355764530 | CCDC50 | c.811C>A (p.His271Asn) c.449-4735C>A (n.449-4735C>A) | |
| 3 | g.191375424C= | CA1429222284 | CCDC50 | c.811C= (p.His271=) c.449-4735C= (n.449-4735C=) | |
| 3 | g.191375424C>G | CA355764529 | CCDC50 | c.811C>G (p.His271Asp) c.449-4735C>G (n.449-4735C>G) | |
| 3 | g.191375424C>T | CA2755338 | CCDC50 | c.811C>T (p.His271Tyr) c.449-4735C>T (n.449-4735C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375425A>C | CA355764531 | CCDC50 | c.812A>C (p.His271Pro) c.449-4734A>C (n.449-4734A>C) | |
| 3 | g.191375425A>G | CA355764532 | CCDC50 | c.812A>G (p.His271Arg) c.449-4734A>G (n.449-4734A>G) | gnomAD v4 |
| 3 | g.191375425A>T | CA355764533 | CCDC50 | c.812A>T (p.His271Leu) c.449-4734A>T (n.449-4734A>T) | |
| 3 | g.191375426C>A | CA355764534 | CCDC50 | c.813C>A (p.His271Gln) c.449-4733C>A (n.449-4733C>A) | |
| 3 | g.191375426C= | CA1429222285 | CCDC50 | c.813C= (p.His271=) c.449-4733C= (n.449-4733C=) | |
| 3 | g.191375426C>G | CA355764535 | CCDC50 | c.813C>G (p.His271Gln) c.449-4733C>G (n.449-4733C>G) | |
| 3 | g.191375426C>T | CA2755339 | CCDC50 | c.813C>T (p.His271=) c.449-4733C>T (n.449-4733C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375427C>A | CA355764536 | CCDC50 | c.814C>A (p.Gln272Lys) c.449-4732C>A (n.449-4732C>A) | |
| 3 | g.191375427C= | CA1429222286 | CCDC50 | c.814C= (p.Gln272=) c.449-4732C= (n.449-4732C=) | |
| 3 | g.191375427C>G | CA355764537 | CCDC50 | c.814C>G (p.Gln272Glu) c.449-4732C>G (n.449-4732C>G) | |
| 3 | g.191375427C>T | CA355764538 | CCDC50 | c.814C>T (p.Gln272Ter) c.449-4732C>T (n.449-4732C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375428A>C | CA355764539 | CCDC50 | c.815A>C (p.Gln272Pro) c.449-4731A>C (n.449-4731A>C) | |
| 3 | g.191375428A>G | CA355764540 | CCDC50 | c.815A>G (p.Gln272Arg) c.449-4731A>G (n.449-4731A>G) | gnomAD v4 |
| 3 | g.191375428A>T | CA355764541 | CCDC50 | c.815A>T (p.Gln272Leu) c.449-4731A>T (n.449-4731A>T) | |
| 3 | g.191375429A>C | CA355764542 | CCDC50 | c.816A>C (p.Gln272His) c.449-4730A>C (n.449-4730A>C) | |
| 3 | g.191375429A>G | CA437638090 | CCDC50 | c.816A>G (p.Gln272=) c.449-4730A>G (n.449-4730A>G) | |
| 3 | g.191375429A>T | CA355764543 | CCDC50 | c.816A>T (p.Gln272His) c.449-4730A>T (n.449-4730A>T) | gnomAD v4 |