Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.191375287G>A | CA355764247 | CCDC50 | c.674G>A (p.Arg225Lys) c.449-4872G>A (n.449-4872G>A) | gnomAD v4 |
3 | g.191375287G>C | CA355764246 | CCDC50 | c.674G>C (p.Arg225Thr) c.449-4872G>C (n.449-4872G>C) | |
3 | g.191375287G>T | CA355764245 | CCDC50 | c.674G>T (p.Arg225Met) c.449-4872G>T (n.449-4872G>T) | |
3 | g.191375288G>A | CA437637584 | CCDC50 | c.675G>A (p.Arg225=) c.449-4871G>A (n.449-4871G>A) | COSMIC |
3 | g.191375288G>C | CA355764248 | CCDC50 | c.675G>C (p.Arg225Ser) c.449-4871G>C (n.449-4871G>C) | |
3 | g.191375288G>T | CA355764249 | CCDC50 | c.675G>T (p.Arg225Ser) c.449-4871G>T (n.449-4871G>T) | |
3 | g.191375289A>C | CA355764250 | CCDC50 | c.676A>C (p.Lys226Gln) c.449-4870A>C (n.449-4870A>C) | |
3 | g.191375289A>G | CA355764251 | CCDC50 | c.676A>G (p.Lys226Glu) c.449-4870A>G (n.449-4870A>G) | |
3 | g.191375289A>T | CA355764252 | CCDC50 | c.676A>T (p.Lys226Ter) c.449-4870A>T (n.449-4870A>T) | |
3 | g.191375290A>C | CA355764253 | CCDC50 | c.677A>C (p.Lys226Thr) c.449-4869A>C (n.449-4869A>C) | |
3 | g.191375290A>G | CA355764254 | CCDC50 | c.677A>G (p.Lys226Arg) c.449-4869A>G (n.449-4869A>G) | |
3 | g.191375290A>T | CA355764255 | CCDC50 | c.677A>T (p.Lys226Ile) c.449-4869A>T (n.449-4869A>T) | |
3 | g.191375291A= | CA1429222216 | CCDC50 | c.678A= (p.Lys226=) c.449-4868A= (n.449-4868A=) | |
3 | g.191375291A>C | CA355764256 | CCDC50 | c.678A>C (p.Lys226Asn) c.449-4868A>C (n.449-4868A>C) | |
3 | g.191375291A>G | CA142719 | CCDC50 | c.678A>G (p.Lys226=) c.449-4868A>G (n.449-4868A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375291A>T | CA355764257 | CCDC50 | c.678A>T (p.Lys226Asn) c.449-4868A>T (n.449-4868A>T) | |
3 | g.191375291_191375292delinsGT | CA2580070580 | CCDC50 | c.678_679delinsGT (p.Arg227Trp) c.449-4868_449-4867delinsGT (n.449-4868_449-4867delinsGT) | ClinVar |
3 | g.191375292C>A | CA437637586 | CCDC50 | c.679C>A (p.Arg227=) c.449-4867C>A (n.449-4867C>A) | |
3 | g.191375292C= | CA1429222217 | CCDC50 | c.679C= (p.Arg227=) c.449-4867C= (n.449-4867C=) | |
3 | g.191375292C>G | CA355764258 | CCDC50 | c.679C>G (p.Arg227Gly) c.449-4867C>G (n.449-4867C>G) | |
3 | g.191375292C>T | CA89778671 | CCDC50 | c.679C>T (p.Arg227Trp) c.449-4867C>T (n.449-4867C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375293G>A | CA2755306 | CCDC50 | c.680G>A (p.Arg227Gln) c.449-4866G>A (n.449-4866G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375293G>C | CA355764259 | CCDC50 | c.680G>C (p.Arg227Pro) c.449-4866G>C (n.449-4866G>C) | |
3 | g.191375293G= | CA1429222218 | CCDC50 | c.680G= (p.Arg227=) c.449-4866G= (n.449-4866G=) | |
3 | g.191375293G>T | CA2755305 | CCDC50 | c.680G>T (p.Arg227Leu) c.449-4866G>T (n.449-4866G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375294G>A | CA437637588 | CCDC50 | c.681G>A (p.Arg227=) c.449-4865G>A (n.449-4865G>A) | dbSNP |
3 | g.191375294G>C | CA437637589 | CCDC50 | c.681G>C (p.Arg227=) c.449-4865G>C (n.449-4865G>C) | gnomAD v4 |
3 | g.191375294G= | CA1429222219 | CCDC50 | c.681G= (p.Arg227=) c.449-4865G= (n.449-4865G=) | |
3 | g.191375294G>T | CA437637590 | CCDC50 | c.681G>T (p.Arg227=) c.449-4865G>T (n.449-4865G>T) | |
3 | g.191375295T>A | CA355764260 | CCDC50 | c.682T>A (p.Ser228Thr) c.449-4864T>A (n.449-4864T>A) | |
3 | g.191375295T>C | CA355764261 | CCDC50 | c.682T>C (p.Ser228Pro) c.449-4864T>C (n.449-4864T>C) | |
3 | g.191375295T>G | CA355764262 | CCDC50 | c.682T>G (p.Ser228Ala) c.449-4864T>G (n.449-4864T>G) | |
3 | g.191375296C>A | CA355764263 | CCDC50 | c.683C>A (p.Ser228Tyr) c.449-4863C>A (n.449-4863C>A) | COSMIC |
3 | g.191375296C>G | CA355764264 | CCDC50 | c.683C>G (p.Ser228Cys) c.449-4863C>G (n.449-4863C>G) | |
3 | g.191375296C>T | CA355764265 | CCDC50 | c.683C>T (p.Ser228Phe) c.449-4863C>T (n.449-4863C>T) | dbSNP |
3 | g.191375297C>A | CA437637591 | CCDC50 | c.684C>A (p.Ser228=) c.449-4862C>A (n.449-4862C>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.191375297C= | CA1429222220 | CCDC50 | c.684C= (p.Ser228=) c.449-4862C= (n.449-4862C=) | |
3 | g.191375297C>G | CA437637592 | CCDC50 | c.684C>G (p.Ser228=) c.449-4862C>G (n.449-4862C>G) | gnomAD v4 |
3 | g.191375297C>T | CA437637593 | CCDC50 | c.684C>T (p.Ser228=) c.449-4862C>T (n.449-4862C>T) | dbSNP |
3 | g.191375298A= | CA1429222221 | CCDC50 | c.685A= (p.Thr229=) c.449-4861A= (n.449-4861A=) | |
3 | g.191375298A>C | CA355764268 | CCDC50 | c.685A>C (p.Thr229Pro) c.449-4861A>C (n.449-4861A>C) | |
3 | g.191375298A>G | CA355764266 | CCDC50 | c.685A>G (p.Thr229Ala) c.449-4861A>G (n.449-4861A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375298A>T | CA355764267 | CCDC50 | c.685A>T (p.Thr229Ser) c.449-4861A>T (n.449-4861A>T) | |
3 | g.191375299C>A | CA355764269 | CCDC50 | c.686C>A (p.Thr229Asn) c.449-4860C>A (n.449-4860C>A) | dbSNP |
3 | g.191375299C= | CA1429222222 | CCDC50 | c.686C= (p.Thr229=) c.449-4860C= (n.449-4860C=) | |
3 | g.191375299C>G | CA355764270 | CCDC50 | c.686C>G (p.Thr229Ser) c.449-4860C>G (n.449-4860C>G) | |
3 | g.191375299C>T | CA355764271 | CCDC50 | c.686C>T (p.Thr229Ile) c.449-4860C>T (n.449-4860C>T) | gnomAD v4 |
3 | g.191375300T>A | CA437637594 | CCDC50 | c.687T>A (p.Thr229=) c.449-4859T>A (n.449-4859T>A) | |
3 | g.191375300T>C | CA437637595 | CCDC50 | c.687T>C (p.Thr229=) c.449-4859T>C (n.449-4859T>C) | gnomAD v4 |
3 | g.191375300T>G | CA437637596 | CCDC50 | c.687T>G (p.Thr229=) c.449-4859T>G (n.449-4859T>G) | |
3 | g.191375301C>A | CA355764272 | CCDC50 | c.688C>A (p.Gln230Lys) c.449-4858C>A (n.449-4858C>A) | |
3 | g.191375301C>G | CA355764273 | CCDC50 | c.688C>G (p.Gln230Glu) c.449-4858C>G (n.449-4858C>G) | |
3 | g.191375301C>T | CA355764274 | CCDC50 | c.688C>T (p.Gln230Ter) c.449-4858C>T (n.449-4858C>T) | dbSNP |
3 | g.191375302A= | CA1429222223 | CCDC50 | c.689A= (p.Gln230=) c.449-4857A= (n.449-4857A=) | |
3 | g.191375302A>C | CA355764275 | CCDC50 | c.689A>C (p.Gln230Pro) c.449-4857A>C (n.449-4857A>C) | |
3 | g.191375302A>G | CA355764277 | CCDC50 | c.689A>G (p.Gln230Arg) c.449-4857A>G (n.449-4857A>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.191375302A>T | CA355764276 | CCDC50 | c.689A>T (p.Gln230Leu) c.449-4857A>T (n.449-4857A>T) | |
3 | g.191375303G>A | CA437637598 | CCDC50 | c.690G>A (p.Gln230=) c.449-4856G>A (n.449-4856G>A) | |
3 | g.191375303G>C | CA355764278 | CCDC50 | c.690G>C (p.Gln230His) c.449-4856G>C (n.449-4856G>C) | |
3 | g.191375303G= | CA1429222224 | CCDC50 | c.690G= (p.Gln230=) c.449-4856G= (n.449-4856G=) | |
3 | g.191375303G>T | CA355764279 | CCDC50 | c.690G>T (p.Gln230His) c.449-4856G>T (n.449-4856G>T) | dbSNP gnomAD v2 |
3 | g.191375304G>A | CA355764280 | CCDC50 | c.691G>A (p.Glu231Lys) c.449-4855G>A (n.449-4855G>A) | dbSNP gnomAD v4 |
3 | g.191375304G>C | CA2755307 | CCDC50 | c.691G>C (p.Glu231Gln) c.449-4855G>C (n.449-4855G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375304G= | CA1429222225 | CCDC50 | c.691G= (p.Glu231=) c.449-4855G= (n.449-4855G=) | |
3 | g.191375304G>T | CA355764281 | CCDC50 | c.691G>T (p.Glu231Ter) c.449-4855G>T (n.449-4855G>T) | |
3 | g.191375305A>C | CA355764282 | CCDC50 | c.692A>C (p.Glu231Ala) c.449-4854A>C (n.449-4854A>C) | |
3 | g.191375305A>G | CA355764283 | CCDC50 | c.692A>G (p.Glu231Gly) c.449-4854A>G (n.449-4854A>G) | |
3 | g.191375305A>T | CA355764284 | CCDC50 | c.692A>T (p.Glu231Val) c.449-4854A>T (n.449-4854A>T) | |
3 | g.191375306G>A | CA437637602 | CCDC50 | c.693G>A (p.Glu231=) c.449-4853G>A (n.449-4853G>A) | |
3 | g.191375306G>C | CA355764285 | CCDC50 | c.693G>C (p.Glu231Asp) c.449-4853G>C (n.449-4853G>C) | |
3 | g.191375306G>T | CA355764286 | CCDC50 | c.693G>T (p.Glu231Asp) c.449-4853G>T (n.449-4853G>T) | |
3 | g.191375307A>C | CA437637603 | CCDC50 | c.694A>C (p.Arg232=) c.449-4852A>C (n.449-4852A>C) | |
3 | g.191375307A>G | CA355764287 | CCDC50 | c.694A>G (p.Arg232Gly) c.449-4852A>G (n.449-4852A>G) | gnomAD v4 |
3 | g.191375307A>T | CA355764288 | CCDC50 | c.694A>T (p.Arg232Trp) c.449-4852A>T (n.449-4852A>T) | |
3 | g.191375308G>A | CA355764291 | CCDC50 | c.695G>A (p.Arg232Lys) c.449-4851G>A (n.449-4851G>A) | |
3 | g.191375308G>C | CA355764289 | CCDC50 | c.695G>C (p.Arg232Thr) c.449-4851G>C (n.449-4851G>C) | |
3 | g.191375308G>T | CA355764290 | CCDC50 | c.695G>T (p.Arg232Met) c.449-4851G>T (n.449-4851G>T) | |
3 | g.191375309G>A | CA437637609 | CCDC50 | c.696G>A (p.Arg232=) c.449-4850G>A (n.449-4850G>A) | |
3 | g.191375309G>C | CA355764292 | CCDC50 | c.696G>C (p.Arg232Ser) c.449-4850G>C (n.449-4850G>C) | |
3 | g.191375309G>T | CA355764293 | CCDC50 | c.696G>T (p.Arg232Ser) c.449-4850G>T (n.449-4850G>T) | |
3 | g.191375310C>A | CA355764294 | CCDC50 | c.697C>A (p.Pro233Thr) c.449-4849C>A (n.449-4849C>A) | gnomAD v4 |
3 | g.191375310C= | CA1429222226 | CCDC50 | c.697C= (p.Pro233=) c.449-4849C= (n.449-4849C=) | |
3 | g.191375310C>G | CA2755308 | CCDC50 | c.697C>G (p.Pro233Ala) c.449-4849C>G (n.449-4849C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375310C>T | CA355764295 | CCDC50 | c.697C>T (p.Pro233Ser) c.449-4849C>T (n.449-4849C>T) | gnomAD v4 |
3 | g.191375311C>A | CA2755309 | CCDC50 | c.698C>A (p.Pro233His) c.449-4848C>A (n.449-4848C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375311C= | CA1429222227 | CCDC50 | c.698C= (p.Pro233=) c.449-4848C= (n.449-4848C=) | |
3 | g.191375311C>G | CA355764296 | CCDC50 | c.698C>G (p.Pro233Arg) c.449-4848C>G (n.449-4848C>G) | |
3 | g.191375311C>T | CA355764297 | CCDC50 | c.698C>T (p.Pro233Leu) c.449-4848C>T (n.449-4848C>T) | ClinVar dbSNP gnomAD v2 |
3 | g.191375312T>A | CA437637614 | CCDC50 | c.699T>A (p.Pro233=) c.449-4847T>A (n.449-4847T>A) | |
3 | g.191375312T>C | CA437637617 | CCDC50 | c.699T>C (p.Pro233=) c.449-4847T>C (n.449-4847T>C) | gnomAD v4 |
3 | g.191375312T>G | CA437637615 | CCDC50 | c.699T>G (p.Pro233=) c.449-4847T>G (n.449-4847T>G) | |
3 | g.191375313C>A | CA437637618 | CCDC50 | c.700C>A (p.Arg234=) c.449-4846C>A (n.449-4846C>A) | |
3 | g.191375313C= | CA1429222228 | CCDC50 | c.700C= (p.Arg234=) c.449-4846C= (n.449-4846C=) | |
3 | g.191375313C>G | CA355764298 | CCDC50 | c.700C>G (p.Arg234Gly) c.449-4846C>G (n.449-4846C>G) | |
3 | g.191375313C>T | CA2755310 | CCDC50 | c.700C>T (p.Arg234Trp) c.449-4846C>T (n.449-4846C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375314G>A | CA2755311 | CCDC50 | c.701G>A (p.Arg234Gln) c.449-4845G>A (n.449-4845G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375314G>C | CA355764299 | CCDC50 | c.701G>C (p.Arg234Pro) c.449-4845G>C (n.449-4845G>C) | dbSNP |
3 | g.191375314G= | CA1429222229 | CCDC50 | c.701G= (p.Arg234=) c.449-4845G= (n.449-4845G=) | |
3 | g.191375314G>T | CA355764300 | CCDC50 | c.701G>T (p.Arg234Leu) c.449-4845G>T (n.449-4845G>T) | |
3 | g.191375315G>A | CA437637620 | CCDC50 | c.702G>A (p.Arg234=) c.449-4844G>A (n.449-4844G>A) | dbSNP |
3 | g.191375315G>C | CA437637621 | CCDC50 | c.702G>C (p.Arg234=) c.449-4844G>C (n.449-4844G>C) | |
3 | g.191375315G= | CA1429222230 | CCDC50 | c.702G= (p.Arg234=) c.449-4844G= (n.449-4844G=) | |
3 | g.191375315G>T | CA437637622 | CCDC50 | c.702G>T (p.Arg234=) c.449-4844G>T (n.449-4844G>T) | |
3 | g.191375316A>C | CA437637623 | CCDC50 | c.703A>C (p.Arg235=) c.449-4843A>C (n.449-4843A>C) | |
3 | g.191375316A>G | CA355764301 | CCDC50 | c.703A>G (p.Arg235Gly) c.449-4843A>G (n.449-4843A>G) | |
3 | g.191375316A>T | CA355764302 | CCDC50 | c.703A>T (p.Arg235Ter) c.449-4843A>T (n.449-4843A>T) | gnomAD v4 |
3 | g.191375317G>A | CA355764305 | CCDC50 | c.704G>A (p.Arg235Lys) c.449-4842G>A (n.449-4842G>A) | |
3 | g.191375317G>C | CA355764303 | CCDC50 | c.704G>C (p.Arg235Thr) c.449-4842G>C (n.449-4842G>C) | |
3 | g.191375317G>T | CA355764304 | CCDC50 | c.704G>T (p.Arg235Ile) c.449-4842G>T (n.449-4842G>T) | |
3 | g.191375318A>C | CA355764306 | CCDC50 | c.705A>C (p.Arg235Ser) c.449-4841A>C (n.449-4841A>C) | |
3 | g.191375318A>G | CA437637630 | CCDC50 | c.705A>G (p.Arg235=) c.449-4841A>G (n.449-4841A>G) | |
3 | g.191375318A>T | CA355764307 | CCDC50 | c.705A>T (p.Arg235Ser) c.449-4841A>T (n.449-4841A>T) | |
3 | g.191375319C>A | CA355764308 | CCDC50 | c.706C>A (p.Pro236Thr) c.449-4840C>A (n.449-4840C>A) | |
3 | g.191375319C>G | CA355764309 | CCDC50 | c.706C>G (p.Pro236Ala) c.449-4840C>G (n.449-4840C>G) | |
3 | g.191375319C>T | CA355764310 | CCDC50 | c.706C>T (p.Pro236Ser) c.449-4840C>T (n.449-4840C>T) | |
3 | g.191375320C>A | CA355764311 | CCDC50 | c.707C>A (p.Pro236His) c.449-4839C>A (n.449-4839C>A) | |
3 | g.191375320C= | CA1429222231 | CCDC50 | c.707C= (p.Pro236=) c.449-4839C= (n.449-4839C=) | |
3 | g.191375320C>G | CA355764312 | CCDC50 | c.707C>G (p.Pro236Arg) c.449-4839C>G (n.449-4839C>G) | |
3 | g.191375320C>T | CA2755312 | CCDC50 | c.707C>T (p.Pro236Leu) c.449-4839C>T (n.449-4839C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.191375321T>A | CA437637635 | CCDC50 | c.708T>A (p.Pro236=) c.449-4838T>A (n.449-4838T>A) | |
3 | g.191375321T>C | CA437637636 | CCDC50 | c.708T>C (p.Pro236=) c.449-4838T>C (n.449-4838T>C) | |
3 | g.191375321T>G | CA437637637 | CCDC50 | c.708T>G (p.Pro236=) c.449-4838T>G (n.449-4838T>G) | |
3 | g.191375322C>A | CA355764313 | CCDC50 | c.709C>A (p.Leu237Met) c.449-4837C>A (n.449-4837C>A) | |
3 | g.191375322C>G | CA355764314 | CCDC50 | c.709C>G (p.Leu237Val) c.449-4837C>G (n.449-4837C>G) | dbSNP |
3 | g.191375322C>T | CA437637640 | CCDC50 | c.709C>T (p.Leu237=) c.449-4837C>T (n.449-4837C>T) | COSMIC |
3 | g.191375323T>A | CA355764315 | CCDC50 | c.710T>A (p.Leu237Gln) c.449-4836T>A (n.449-4836T>A) | |
3 | g.191375323T>C | CA355764316 | CCDC50 | c.710T>C (p.Leu237Pro) c.449-4836T>C (n.449-4836T>C) | |
3 | g.191375323T>G | CA355764317 | CCDC50 | c.710T>G (p.Leu237Arg) c.449-4836T>G (n.449-4836T>G) | |
3 | g.191375324G>A | CA437637642 | CCDC50 | c.711G>A (p.Leu237=) c.449-4835G>A (n.449-4835G>A) | |
3 | g.191375324G>C | CA437637644 | CCDC50 | c.711G>C (p.Leu237=) c.449-4835G>C (n.449-4835G>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.191375324G= | CA1429222232 | CCDC50 | c.711G= (p.Leu237=) c.449-4835G= (n.449-4835G=) | |
3 | g.191375324G>T | CA437637643 | CCDC50 | c.711G>T (p.Leu237=) c.449-4835G>T (n.449-4835G>T) | |
3 | g.191375325C>A | CA355764320 | CCDC50 | c.712C>A (p.Leu238Ile) c.449-4834C>A (n.449-4834C>A) | |
3 | g.191375325C= | CA1429222233 | CCDC50 | c.712C= (p.Leu238=) c.449-4834C= (n.449-4834C=) | |
3 | g.191375325C>G | CA355764318 | CCDC50 | c.712C>G (p.Leu238Val) c.449-4834C>G (n.449-4834C>G) | gnomAD v4 |
3 | g.191375325C>T | CA355764319 | CCDC50 | c.712C>T (p.Leu238Phe) c.449-4834C>T (n.449-4834C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.191375326T>A | CA355764321 | CCDC50 | c.713T>A (p.Leu238His) c.449-4833T>A (n.449-4833T>A) | |
3 | g.191375326T>C | CA355764323 | CCDC50 | c.713T>C (p.Leu238Pro) c.449-4833T>C (n.449-4833T>C) | dbSNP |
3 | g.191375326T>G | CA355764322 | CCDC50 | c.713T>G (p.Leu238Arg) c.449-4833T>G (n.449-4833T>G) | |
3 | g.191375326T= | CA1429222234 | CCDC50 | c.713T= (p.Leu238=) c.449-4833T= (n.449-4833T=) | |
3 | g.191375327T>A | CA437637647 | CCDC50 | c.714T>A (p.Leu238=) c.449-4832T>A (n.449-4832T>A) | |
3 | g.191375327T>C | CA437637648 | CCDC50 | c.714T>C (p.Leu238=) c.449-4832T>C (n.449-4832T>C) | |
3 | g.191375327T>G | CA437637649 | CCDC50 | c.714T>G (p.Leu238=) c.449-4832T>G (n.449-4832T>G) | |
3 | g.191375328C>A | CA355764324 | CCDC50 | c.715C>A (p.Pro239Thr) c.449-4831C>A (n.449-4831C>A) | |
3 | g.191375328C>G | CA355764325 | CCDC50 | c.715C>G (p.Pro239Ala) c.449-4831C>G (n.449-4831C>G) | |
3 | g.191375328C>T | CA355764326 | CCDC50 | c.715C>T (p.Pro239Ser) c.449-4831C>T (n.449-4831C>T) | |
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) |