| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.191375178G>A | CA355763999 | CCDC50 | c.565G>A (p.Glu189Lys) c.449-4981G>A (n.449-4981G>A) | |
| 3 | g.191375178G>C | CA355764000 | CCDC50 | c.565G>C (p.Glu189Gln) c.449-4981G>C (n.449-4981G>C) | |
| 3 | g.191375178G>T | CA355764001 | CCDC50 | c.565G>T (p.Glu189Ter) c.449-4981G>T (n.449-4981G>T) | COSMIC |
| 3 | g.191375179A>C | CA355764002 | CCDC50 | c.566A>C (p.Glu189Ala) c.449-4980A>C (n.449-4980A>C) | |
| 3 | g.191375179A>G | CA355764004 | CCDC50 | c.566A>G (p.Glu189Gly) c.449-4980A>G (n.449-4980A>G) | |
| 3 | g.191375179A>T | CA355764003 | CCDC50 | c.566A>T (p.Glu189Val) c.449-4980A>T (n.449-4980A>T) | |
| 3 | g.191375180G>A | CA437422168 | CCDC50 | c.567G>A (p.Glu189=) c.449-4979G>A (n.449-4979G>A) | |
| 3 | g.191375180G>C | CA355764005 | CCDC50 | c.567G>C (p.Glu189Asp) c.449-4979G>C (n.449-4979G>C) | |
| 3 | g.191375180G>T | CA355764006 | CCDC50 | c.567G>T (p.Glu189Asp) c.449-4979G>T (n.449-4979G>T) | |
| 3 | g.191375180_191375181delinsGA | CA1429222159 | CCDC50 | c.567_568delinsGA (p.Glu189=) c.449-4979_449-4978delinsGA (n.449-4979_449-4978delinsGA) | |
| 3 | g.191375181A>C | CA355764007 | CCDC50 | c.568A>C (p.Asn190His) c.449-4978A>C (n.449-4978A>C) | |
| 3 | g.191375181A>G | CA355764008 | CCDC50 | c.568A>G (p.Asn190Asp) c.449-4978A>G (n.449-4978A>G) | |
| 3 | g.191375181A>T | CA355764009 | CCDC50 | c.568A>T (p.Asn190Tyr) c.449-4978A>T (n.449-4978A>T) | |
| 3 | g.191375182del | CA917083648 | CCDC50 | c.569del (p.Asn190ThrfsTer?) c.449-4977del (n.449-4977del) | dbSNP gnomAD v4 |
| 3 | g.191375182A= | CA1429222160 | CCDC50 | c.569A= (p.Asn190=) c.449-4977A= (n.449-4977A=) | |
| 3 | g.191375182A>C | CA355764010 | CCDC50 | c.569A>C (p.Asn190Thr) c.449-4977A>C (n.449-4977A>C) | |
| 3 | g.191375182A>G | CA89778657 | CCDC50 | c.569A>G (p.Asn190Ser) c.449-4977A>G (n.449-4977A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375182A>T | CA355764011 | CCDC50 | c.569A>T (p.Asn190Ile) c.449-4977A>T (n.449-4977A>T) | |
| 3 | g.191375183C>A | CA355764012 | CCDC50 | c.570C>A (p.Asn190Lys) c.449-4976C>A (n.449-4976C>A) | |
| 3 | g.191375183C= | CA1429222161 | CCDC50 | c.570C= (p.Asn190=) c.449-4976C= (n.449-4976C=) | |
| 3 | g.191375183C>G | CA355764013 | CCDC50 | c.570C>G (p.Asn190Lys) c.449-4976C>G (n.449-4976C>G) | |
| 3 | g.191375183C>T | CA2755283 | CCDC50 | c.570C>T (p.Asn190=) c.449-4976C>T (n.449-4976C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375184T>A | CA355764014 | CCDC50 | c.571T>A (p.Leu191Met) c.449-4975T>A (n.449-4975T>A) | |
| 3 | g.191375184T>C | CA437422170 | CCDC50 | c.571T>C (p.Leu191=) c.449-4975T>C (n.449-4975T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375184T>G | CA355764015 | CCDC50 | c.571T>G (p.Leu191Val) c.449-4975T>G (n.449-4975T>G) | |
| 3 | g.191375184T= | CA1429222162 | CCDC50 | c.571T= (p.Leu191=) c.449-4975T= (n.449-4975T=) | |
| 3 | g.191375185T>A | CA355764016 | CCDC50 | c.572T>A (p.Leu191Ter) c.449-4974T>A (n.449-4974T>A) | |
| 3 | g.191375185T>C | CA355764017 | CCDC50 | c.572T>C (p.Leu191Ser) c.449-4974T>C (n.449-4974T>C) | gnomAD v2 |
| 3 | g.191375185T>G | CA355764018 | CCDC50 | c.572T>G (p.Leu191Trp) c.449-4974T>G (n.449-4974T>G) | |
| 3 | g.191375186G>A | CA437422174 | CCDC50 | c.573G>A (p.Leu191=) c.449-4973G>A (n.449-4973G>A) | |
| 3 | g.191375186G>C | CA355764019 | CCDC50 | c.573G>C (p.Leu191Phe) c.449-4973G>C (n.449-4973G>C) | gnomAD v4 |
| 3 | g.191375186G>T | CA355764020 | CCDC50 | c.573G>T (p.Leu191Phe) c.449-4973G>T (n.449-4973G>T) | |
| 3 | g.191375187G>A | CA355764021 | CCDC50 | c.574G>A (p.Glu192Lys) c.449-4972G>A (n.449-4972G>A) | |
| 3 | g.191375187G>C | CA2755284 | CCDC50 | c.574G>C (p.Glu192Gln) c.449-4972G>C (n.449-4972G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375187G= | CA1429222163 | CCDC50 | c.574G= (p.Glu192=) c.449-4972G= (n.449-4972G=) | |
| 3 | g.191375187G>T | CA355764022 | CCDC50 | c.574G>T (p.Glu192Ter) c.449-4972G>T (n.449-4972G>T) | |
| 3 | g.191375188A>C | CA355764023 | CCDC50 | c.575A>C (p.Glu192Ala) c.449-4971A>C (n.449-4971A>C) | |
| 3 | g.191375188A>G | CA355764024 | CCDC50 | c.575A>G (p.Glu192Gly) c.449-4971A>G (n.449-4971A>G) | |
| 3 | g.191375188A>T | CA355764025 | CCDC50 | c.575A>T (p.Glu192Val) c.449-4971A>T (n.449-4971A>T) | |
| 3 | g.191375189A= | CA1429222164 | CCDC50 | c.576A= (p.Glu192=) c.449-4970A= (n.449-4970A=) | |
| 3 | g.191375189A>C | CA355764026 | CCDC50 | c.576A>C (p.Glu192Asp) c.449-4970A>C (n.449-4970A>C) | |
| 3 | g.191375189A>G | CA437422177 | CCDC50 | c.576A>G (p.Glu192=) c.449-4970A>G (n.449-4970A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375189A>T | CA355764027 | CCDC50 | c.576A>T (p.Glu192Asp) c.449-4970A>T (n.449-4970A>T) | |
| 3 | g.191375190G>A | CA355764028 | CCDC50 | c.577G>A (p.Glu193Lys) c.449-4969G>A (n.449-4969G>A) | |
| 3 | g.191375190G>C | CA355764029 | CCDC50 | c.577G>C (p.Glu193Gln) c.449-4969G>C (n.449-4969G>C) | |
| 3 | g.191375190G>T | CA355764030 | CCDC50 | c.577G>T (p.Glu193Ter) c.449-4969G>T (n.449-4969G>T) | |
| 3 | g.191375190_191375194delinsGAGCC | CA1429222165 | CCDC50 | c.577_581delinsGAGCC (p.Glu193=) c.449-4969_449-4965delinsGAGCC (n.449-4969_449-4965delinsGAGCC) | |
| 3 | g.191375191A= | CA1429222167 | CCDC50 | c.578A= (p.Glu193=) c.449-4968A= (n.449-4968A=) | |
| 3 | g.191375191A>C | CA355764032 | CCDC50 | c.578A>C (p.Glu193Ala) c.449-4968A>C (n.449-4968A>C) | |
| 3 | g.191375191A>G | CA2755285 | CCDC50 | c.578A>G (p.Glu193Gly) c.449-4968A>G (n.449-4968A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375191A>T | CA355764031 | CCDC50 | c.578A>T (p.Glu193Val) c.449-4968A>T (n.449-4968A>T) | |
| 3 | g.191375193_191375196del | CA1429222166 | CCDC50 | c.580_583del (p.Pro194AsnfsTer?) c.449-4966_449-4963del (n.449-4966_449-4963del) | dbSNP |
| 3 | g.191375192G>A | CA437422180 | CCDC50 | c.579G>A (p.Glu193=) c.449-4967G>A (n.449-4967G>A) | dbSNP gnomAD v4 |
| 3 | g.191375192G>C | CA355764033 | CCDC50 | c.579G>C (p.Glu193Asp) c.449-4967G>C (n.449-4967G>C) | |
| 3 | g.191375192G= | CA1429222169 | CCDC50 | c.579G= (p.Glu193=) c.449-4967G= (n.449-4967G=) | |
| 3 | g.191375192G>T | CA355764034 | CCDC50 | c.579G>T (p.Glu193Asp) c.449-4967G>T (n.449-4967G>T) | |
| 3 | g.191375192_191375198delinsGCCAGAA | CA1429222168 | CCDC50 | c.579_585delinsGCCAGAA (p.Glu193=) c.449-4967_449-4961delinsGCCAGAA (n.449-4967_449-4961delinsGCCAGAA) | |
| 3 | g.191375193C>A | CA355764035 | CCDC50 | c.580C>A (p.Pro194Thr) c.449-4966C>A (n.449-4966C>A) | |
| 3 | g.191375193C= | CA1429222170 | CCDC50 | c.580C= (p.Pro194=) c.449-4966C= (n.449-4966C=) | |
| 3 | g.191375193C>G | CA355764036 | CCDC50 | c.580C>G (p.Pro194Ala) c.449-4966C>G (n.449-4966C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375193C>T | CA355764037 | CCDC50 | c.580C>T (p.Pro194Ser) c.449-4966C>T (n.449-4966C>T) | |
| 3 | g.191375194_191375199del | CA1057746920 | CCDC50 | c.581_586del (p.Pro194_Glu195del) c.449-4965_449-4960del (n.449-4965_449-4960del) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375194C>A | CA355764038 | CCDC50 | c.581C>A (p.Pro194Gln) c.449-4965C>A (n.449-4965C>A) | |
| 3 | g.191375194C>G | CA355764039 | CCDC50 | c.581C>G (p.Pro194Arg) c.449-4965C>G (n.449-4965C>G) | |
| 3 | g.191375194C>T | CA355764040 | CCDC50 | c.581C>T (p.Pro194Leu) c.449-4965C>T (n.449-4965C>T) | |
| 3 | g.191375195A>C | CA437422182 | CCDC50 | c.582A>C (p.Pro194=) c.449-4964A>C (n.449-4964A>C) | |
| 3 | g.191375195A>G | CA437422183 | CCDC50 | c.582A>G (p.Pro194=) c.449-4964A>G (n.449-4964A>G) | |
| 3 | g.191375195A>T | CA437422181 | CCDC50 | c.582A>T (p.Pro194=) c.449-4964A>T (n.449-4964A>T) | |
| 3 | g.191375196G>A | CA355764041 | CCDC50 | c.583G>A (p.Glu195Lys) c.449-4963G>A (n.449-4963G>A) | |
| 3 | g.191375196G>C | CA355764042 | CCDC50 | c.583G>C (p.Glu195Gln) c.449-4963G>C (n.449-4963G>C) | |
| 3 | g.191375196G>T | CA355764043 | CCDC50 | c.583G>T (p.Glu195Ter) c.449-4963G>T (n.449-4963G>T) | gnomAD v4 |
| 3 | g.191375197A= | CA1429222171 | CCDC50 | c.584A= (p.Glu195=) c.449-4962A= (n.449-4962A=) | |
| 3 | g.191375197A>C | CA355764044 | CCDC50 | c.584A>C (p.Glu195Ala) c.449-4962A>C (n.449-4962A>C) | |
| 3 | g.191375197A>G | CA355764045 | CCDC50 | c.584A>G (p.Glu195Gly) c.449-4962A>G (n.449-4962A>G) | |
| 3 | g.191375197A>T | CA355764046 | CCDC50 | c.584A>T (p.Glu195Val) c.449-4962A>T (n.449-4962A>T) | dbSNP |
| 3 | g.191375198A= | CA1429222172 | CCDC50 | c.585A= (p.Glu195=) c.449-4961A= (n.449-4961A=) | |
| 3 | g.191375198A>C | CA355764047 | CCDC50 | c.585A>C (p.Glu195Asp) c.449-4961A>C (n.449-4961A>C) | |
| 3 | g.191375198A>G | CA437422185 | CCDC50 | c.585A>G (p.Glu195=) c.449-4961A>G (n.449-4961A>G) | |
| 3 | g.191375198A>T | CA355764048 | CCDC50 | c.585A>T (p.Glu195Asp) c.449-4961A>T (n.449-4961A>T) | dbSNP |
| 3 | g.191375198_191375199insTT | CA1057746922 | CCDC50 | c.585_586insTT (p.Gln196PhefsTer?) c.449-4961_449-4960insTT (n.449-4961_449-4960insTT) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375199C>A | CA355764049 | CCDC50 | c.586C>A (p.Gln196Lys) c.449-4960C>A (n.449-4960C>A) | gnomAD v4 |
| 3 | g.191375199C= | CA1429222173 | CCDC50 | c.586C= (p.Gln196=) c.449-4960C= (n.449-4960C=) | |
| 3 | g.191375199C>G | CA2755286 | CCDC50 | c.586C>G (p.Gln196Glu) c.449-4960C>G (n.449-4960C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375199C>T | CA355764050 | CCDC50 | c.586C>T (p.Gln196Ter) c.449-4960C>T (n.449-4960C>T) | |
| 3 | g.191375199_191375204dup | CA2669072417 | CCDC50 | c.586_591dup (p.His197_Cys198insGlnHis) c.449-4960_449-4955dup (n.449-4960_449-4955dup) | gnomAD v4 |
| 3 | g.191375200A>C | CA355764051 | CCDC50 | c.587A>C (p.Gln196Pro) c.449-4959A>C (n.449-4959A>C) | |
| 3 | g.191375200A>G | CA355764052 | CCDC50 | c.587A>G (p.Gln196Arg) c.449-4959A>G (n.449-4959A>G) | |
| 3 | g.191375200A>T | CA355764053 | CCDC50 | c.587A>T (p.Gln196Leu) c.449-4959A>T (n.449-4959A>T) | |
| 3 | g.191375201A= | CA1429222174 | CCDC50 | c.588A= (p.Gln196=) c.449-4958A= (n.449-4958A=) | |
| 3 | g.191375201A>C | CA355764054 | CCDC50 | c.588A>C (p.Gln196His) c.449-4958A>C (n.449-4958A>C) | |
| 3 | g.191375201A>G | CA437422186 | CCDC50 | c.588A>G (p.Gln196=) c.449-4958A>G (n.449-4958A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375201A>T | CA355764055 | CCDC50 | c.588A>T (p.Gln196His) c.449-4958A>T (n.449-4958A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375202C>A | CA355764056 | CCDC50 | c.589C>A (p.His197Asn) c.449-4957C>A (n.449-4957C>A) | |
| 3 | g.191375202C>G | CA355764057 | CCDC50 | c.589C>G (p.His197Asp) c.449-4957C>G (n.449-4957C>G) | |
| 3 | g.191375202C>T | CA355764058 | CCDC50 | c.589C>T (p.His197Tyr) c.449-4957C>T (n.449-4957C>T) | |
| 3 | g.191375203A= | CA1429222175 | CCDC50 | c.590A= (p.His197=) c.449-4956A= (n.449-4956A=) | |
| 3 | g.191375203A>C | CA355764059 | CCDC50 | c.590A>C (p.His197Pro) c.449-4956A>C (n.449-4956A>C) | |
| 3 | g.191375203A>G | CA355764061 | CCDC50 | c.590A>G (p.His197Arg) c.449-4956A>G (n.449-4956A>G) | dbSNP gnomAD v4 |
| 3 | g.191375203A>T | CA355764060 | CCDC50 | c.590A>T (p.His197Leu) c.449-4956A>T (n.449-4956A>T) | |
| 3 | g.191375204T>A | CA355764062 | CCDC50 | c.591T>A (p.His197Gln) c.449-4955T>A (n.449-4955T>A) | |
| 3 | g.191375204T>C | CA437422187 | CCDC50 | c.591T>C (p.His197=) c.449-4955T>C (n.449-4955T>C) | gnomAD v4 |
| 3 | g.191375204T>G | CA355764063 | CCDC50 | c.591T>G (p.His197Gln) c.449-4955T>G (n.449-4955T>G) | |
| 3 | g.191375205T>A | CA355764064 | CCDC50 | c.592T>A (p.Cys198Ser) c.449-4954T>A (n.449-4954T>A) | |
| 3 | g.191375205T>C | CA355764066 | CCDC50 | c.592T>C (p.Cys198Arg) c.449-4954T>C (n.449-4954T>C) | |
| 3 | g.191375205T>G | CA355764065 | CCDC50 | c.592T>G (p.Cys198Gly) c.449-4954T>G (n.449-4954T>G) | |
| 3 | g.191375206G>A | CA355764067 | CCDC50 | c.593G>A (p.Cys198Tyr) c.449-4953G>A (n.449-4953G>A) | |
| 3 | g.191375206G>C | CA355764068 | CCDC50 | c.593G>C (p.Cys198Ser) c.449-4953G>C (n.449-4953G>C) | |
| 3 | g.191375206G>T | CA355764069 | CCDC50 | c.593G>T (p.Cys198Phe) c.449-4953G>T (n.449-4953G>T) | |
| 3 | g.191375207T>A | CA355764070 | CCDC50 | c.594T>A (p.Cys198Ter) c.449-4952T>A (n.449-4952T>A) | |
| 3 | g.191375207T>C | CA437422188 | CCDC50 | c.594T>C (p.Cys198=) c.449-4952T>C (n.449-4952T>C) | dbSNP gnomAD v4 |
| 3 | g.191375207T>G | CA355764071 | CCDC50 | c.594T>G (p.Cys198Trp) c.449-4952T>G (n.449-4952T>G) | |
| 3 | g.191375208T>A | CA355764074 | CCDC50 | c.595T>A (p.Ser199Thr) c.449-4951T>A (n.449-4951T>A) | |
| 3 | g.191375208T>C | CA355764073 | CCDC50 | c.595T>C (p.Ser199Pro) c.449-4951T>C (n.449-4951T>C) | gnomAD v4 |
| 3 | g.191375208T>G | CA355764072 | CCDC50 | c.595T>G (p.Ser199Ala) c.449-4951T>G (n.449-4951T>G) | |
| 3 | g.191375209C>A | CA355764075 | CCDC50 | c.596C>A (p.Ser199Ter) c.449-4950C>A (n.449-4950C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375209C= | CA1429222176 | CCDC50 | c.596C= (p.Ser199=) c.449-4950C= (n.449-4950C=) | |
| 3 | g.191375209C>G | CA355764076 | CCDC50 | c.596C>G (p.Ser199Ter) c.449-4950C>G (n.449-4950C>G) | |
| 3 | g.191375209C>T | CA355764077 | CCDC50 | c.596C>T (p.Ser199Leu) c.449-4950C>T (n.449-4950C>T) | |
| 3 | g.191375210A= | CA1429222177 | CCDC50 | c.597A= (p.Ser199=) c.449-4949A= (n.449-4949A=) | |
| 3 | g.191375210A>C | CA437422190 | CCDC50 | c.597A>C (p.Ser199=) c.449-4949A>C (n.449-4949A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375210A>G | CA437422191 | CCDC50 | c.597A>G (p.Ser199=) c.449-4949A>G (n.449-4949A>G) | dbSNP gnomAD v4 |
| 3 | g.191375210A>T | CA437422192 | CCDC50 | c.597A>T (p.Ser199=) c.449-4949A>T (n.449-4949A>T) | |
| 3 | g.191375211T>A | CA355764078 | CCDC50 | c.598T>A (p.Ser200Thr) c.449-4948T>A (n.449-4948T>A) | |
| 3 | g.191375211T>C | CA355764079 | CCDC50 | c.598T>C (p.Ser200Pro) c.449-4948T>C (n.449-4948T>C) | |
| 3 | g.191375211T>G | CA355764080 | CCDC50 | c.598T>G (p.Ser200Ala) c.449-4948T>G (n.449-4948T>G) | |
| 3 | g.191375212C>A | CA355764082 | CCDC50 | c.599C>A (p.Ser200Ter) c.449-4947C>A (n.449-4947C>A) | |
| 3 | g.191375212C= | CA1429222178 | CCDC50 | c.599C= (p.Ser200=) c.449-4947C= (n.449-4947C=) | |
| 3 | g.191375212C>G | CA355764081 | CCDC50 | c.599C>G (p.Ser200Trp) c.449-4947C>G (n.449-4947C>G) | gnomAD v4 |
| 3 | g.191375212C>T | CA2755287 | CCDC50 | c.599C>T (p.Ser200Leu) c.449-4947C>T (n.449-4947C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375213G>A | CA2755288 | CCDC50 | c.600G>A (p.Ser200=) c.449-4946G>A (n.449-4946G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375213G>C | CA437422194 | CCDC50 | c.600G>C (p.Ser200=) c.449-4946G>C (n.449-4946G>C) | |
| 3 | g.191375213G= | CA1429222179 | CCDC50 | c.600G= (p.Ser200=) c.449-4946G= (n.449-4946G=) | |
| 3 | g.191375213G>T | CA437422193 | CCDC50 | c.600G>T (p.Ser200=) c.449-4946G>T (n.449-4946G>T) | |
| 3 | g.191375214A>C | CA355764083 | CCDC50 | c.601A>C (p.Lys201Gln) c.449-4945A>C (n.449-4945A>C) | |
| 3 | g.191375214A>G | CA355764084 | CCDC50 | c.601A>G (p.Lys201Glu) c.449-4945A>G (n.449-4945A>G) | |
| 3 | g.191375214A>T | CA355764085 | CCDC50 | c.601A>T (p.Lys201Ter) c.449-4945A>T (n.449-4945A>T) | |
| 3 | g.191375215A>C | CA355764086 | CCDC50 | c.602A>C (p.Lys201Thr) c.449-4944A>C (n.449-4944A>C) | |
| 3 | g.191375215A>G | CA355764087 | CCDC50 | c.602A>G (p.Lys201Arg) c.449-4944A>G (n.449-4944A>G) | dbSNP |
| 3 | g.191375215A>T | CA355764088 | CCDC50 | c.602A>T (p.Lys201Met) c.449-4944A>T (n.449-4944A>T) | |
| 3 | g.191375216G>A | CA437422195 | CCDC50 | c.603G>A (p.Lys201=) c.449-4943G>A (n.449-4943G>A) | |
| 3 | g.191375216G>C | CA355764089 | CCDC50 | c.603G>C (p.Lys201Asn) c.449-4943G>C (n.449-4943G>C) | |
| 3 | g.191375216G>T | CA355764090 | CCDC50 | c.603G>T (p.Lys201Asn) c.449-4943G>T (n.449-4943G>T) | |
| 3 | g.191375217A= | CA1429222180 | CCDC50 | c.604A= (p.Arg202=) c.449-4942A= (n.449-4942A=) | |
| 3 | g.191375217A>C | CA2755289 | CCDC50 | c.604A>C (p.Arg202=) c.449-4942A>C (n.449-4942A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375217A>G | CA355764091 | CCDC50 | c.604A>G (p.Arg202Gly) c.449-4942A>G (n.449-4942A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375217A>T | CA355764092 | CCDC50 | c.604A>T (p.Arg202Ter) c.449-4942A>T (n.449-4942A>T) | |
| 3 | g.191375218G>A | CA355764093 | CCDC50 | c.605G>A (p.Arg202Lys) c.449-4941G>A (n.449-4941G>A) | |
| 3 | g.191375218G>C | CA355764095 | CCDC50 | c.605G>C (p.Arg202Thr) c.449-4941G>C (n.449-4941G>C) | |
| 3 | g.191375218G= | CA1429222181 | CCDC50 | c.605G= (p.Arg202=) c.449-4941G= (n.449-4941G=) | |
| 3 | g.191375218G>T | CA355764094 | CCDC50 | c.605G>T (p.Arg202Ile) c.449-4941G>T (n.449-4941G>T) | |
| 3 | g.191375219A>C | CA355764096 | CCDC50 | c.606A>C (p.Arg202Ser) c.449-4940A>C (n.449-4940A>C) | |
| 3 | g.191375219A>G | CA437422196 | CCDC50 | c.606A>G (p.Arg202=) c.449-4940A>G (n.449-4940A>G) | |
| 3 | g.191375219A>T | CA355764097 | CCDC50 | c.606A>T (p.Arg202Ser) c.449-4940A>T (n.449-4940A>T) | |
| 3 | g.191375219dup | CA904368525 | CCDC50 | c.606dup (p.Ser203IlefsTer6) c.449-4940dup (n.449-4940dup) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375220T>A | CA355764098 | CCDC50 | c.607T>A (p.Ser203Thr) c.449-4939T>A (n.449-4939T>A) | gnomAD v4 |
| 3 | g.191375220T>C | CA355764099 | CCDC50 | c.607T>C (p.Ser203Pro) c.449-4939T>C (n.449-4939T>C) | |
| 3 | g.191375220T>G | CA355764100 | CCDC50 | c.607T>G (p.Ser203Ala) c.449-4939T>G (n.449-4939T>G) | |
| 3 | g.191375221C>A | CA355764101 | CCDC50 | c.608C>A (p.Ser203Tyr) c.449-4938C>A (n.449-4938C>A) | |
| 3 | g.191375221C>G | CA355764102 | CCDC50 | c.608C>G (p.Ser203Cys) c.449-4938C>G (n.449-4938C>G) | gnomAD v4 |
| 3 | g.191375221C>T | CA355764103 | CCDC50 | c.608C>T (p.Ser203Phe) c.449-4938C>T (n.449-4938C>T) | COSMIC |
| 3 | g.191375222C>A | CA437422197 | CCDC50 | c.609C>A (p.Ser203=) c.449-4937C>A (n.449-4937C>A) | |
| 3 | g.191375222C= | CA1429222182 | CCDC50 | c.609C= (p.Ser203=) c.449-4937C= (n.449-4937C=) | |
| 3 | g.191375222C>G | CA437422198 | CCDC50 | c.609C>G (p.Ser203=) c.449-4937C>G (n.449-4937C>G) | |
| 3 | g.191375222C>T | CA2755290 | CCDC50 | c.609C>T (p.Ser203=) c.449-4937C>T (n.449-4937C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.191375223C>A | CA355764104 | CCDC50 | c.610C>A (p.Leu204Met) c.449-4936C>A (n.449-4936C>A) | |
| 3 | g.191375223C>G | CA355764105 | CCDC50 | c.610C>G (p.Leu204Val) c.449-4936C>G (n.449-4936C>G) | |
| 3 | g.191375223C>T | CA437422199 | CCDC50 | c.610C>T (p.Leu204=) c.449-4936C>T (n.449-4936C>T) | |
| 3 | g.191375224T>A | CA355764108 | CCDC50 | c.611T>A (p.Leu204Gln) c.449-4935T>A (n.449-4935T>A) | |
| 3 | g.191375224T>C | CA355764107 | CCDC50 | c.611T>C (p.Leu204Pro) c.449-4935T>C (n.449-4935T>C) | |
| 3 | g.191375224T>G | CA355764106 | CCDC50 | c.611T>G (p.Leu204Arg) c.449-4935T>G (n.449-4935T>G) | |
| 3 | g.191375225G>A | CA437422200 | CCDC50 | c.612G>A (p.Leu204=) c.449-4934G>A (n.449-4934G>A) | gnomAD v4 |
| 3 | g.191375225G>C | CA437422201 | CCDC50 | c.612G>C (p.Leu204=) c.449-4934G>C (n.449-4934G>C) | |
| 3 | g.191375225G>T | CA437422202 | CCDC50 | c.612G>T (p.Leu204=) c.449-4934G>T (n.449-4934G>T) | COSMIC |
| 3 | g.191375226T>A | CA355764109 | CCDC50 | c.613T>A (p.Ser205Thr) c.449-4933T>A (n.449-4933T>A) | |
| 3 | g.191375226T>C | CA355764110 | CCDC50 | c.613T>C (p.Ser205Pro) c.449-4933T>C (n.449-4933T>C) | |
| 3 | g.191375226T>G | CA355764111 | CCDC50 | c.613T>G (p.Ser205Ala) c.449-4933T>G (n.449-4933T>G) | |
| 3 | g.191375227C>A | CA355764112 | CCDC50 | c.614C>A (p.Ser205Ter) c.449-4932C>A (n.449-4932C>A) | gnomAD v4 |
| 3 | g.191375227C= | CA1429222183 | CCDC50 | c.614C= (p.Ser205=) c.449-4932C= (n.449-4932C=) | |
| 3 | g.191375227C>G | CA355764113 | CCDC50 | c.614C>G (p.Ser205Ter) c.449-4932C>G (n.449-4932C>G) | |
| 3 | g.191375227C>T | CA2755291 | CCDC50 | c.614C>T (p.Ser205Leu) c.449-4932C>T (n.449-4932C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375228A>C | CA437422204 | CCDC50 | c.615A>C (p.Ser205=) c.449-4931A>C (n.449-4931A>C) | |
| 3 | g.191375228A>G | CA437422205 | CCDC50 | c.615A>G (p.Ser205=) c.449-4931A>G (n.449-4931A>G) | gnomAD v4 |
| 3 | g.191375228A>T | CA437422203 | CCDC50 | c.615A>T (p.Ser205=) c.449-4931A>T (n.449-4931A>T) | gnomAD v4 |
| 3 | g.191375229T>A | CA355764114 | CCDC50 | c.616T>A (p.Ser206Thr) c.449-4930T>A (n.449-4930T>A) | |
| 3 | g.191375229T>C | CA355764115 | CCDC50 | c.616T>C (p.Ser206Pro) c.449-4930T>C (n.449-4930T>C) | |
| 3 | g.191375229T>G | CA355764116 | CCDC50 | c.616T>G (p.Ser206Ala) c.449-4930T>G (n.449-4930T>G) | |
| 3 | g.191375230C>A | CA355764117 | CCDC50 | c.617C>A (p.Ser206Tyr) c.449-4929C>A (n.449-4929C>A) | |
| 3 | g.191375230C= | CA1429222184 | CCDC50 | c.617C= (p.Ser206=) c.449-4929C= (n.449-4929C=) | |
| 3 | g.191375230C>G | CA355764118 | CCDC50 | c.617C>G (p.Ser206Cys) c.449-4929C>G (n.449-4929C>G) | |
| 3 | g.191375230C>T | CA2755292 | CCDC50 | c.617C>T (p.Ser206Phe) c.449-4929C>T (n.449-4929C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375231C>A | CA437422206 | CCDC50 | c.618C>A (p.Ser206=) c.449-4928C>A (n.449-4928C>A) | gnomAD v4 |
| 3 | g.191375231C>G | CA437422207 | CCDC50 | c.618C>G (p.Ser206=) c.449-4928C>G (n.449-4928C>G) | |
| 3 | g.191375231C>T | CA437422208 | CCDC50 | c.618C>T (p.Ser206=) c.449-4928C>T (n.449-4928C>T) | gnomAD v4 |
| 3 | g.191375232T>A | CA355764121 | CCDC50 | c.619T>A (p.Ser207Thr) c.449-4927T>A (n.449-4927T>A) | |
| 3 | g.191375232T>C | CA355764120 | CCDC50 | c.619T>C (p.Ser207Pro) c.449-4927T>C (n.449-4927T>C) | |
| 3 | g.191375232T>G | CA355764119 | CCDC50 | c.619T>G (p.Ser207Ala) c.449-4927T>G (n.449-4927T>G) | |
| 3 | g.191375233C>A | CA355764122 | CCDC50 | c.620C>A (p.Ser207Tyr) c.449-4926C>A (n.449-4926C>A) | |
| 3 | g.191375233C= | CA1429222185 | CCDC50 | c.620C= (p.Ser207=) c.449-4926C= (n.449-4926C=) | |
| 3 | g.191375233C>G | CA355764123 | CCDC50 | c.620C>G (p.Ser207Cys) c.449-4926C>G (n.449-4926C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375233C>T | CA2755293 | CCDC50 | c.620C>T (p.Ser207Phe) c.449-4926C>T (n.449-4926C>T) | ClinVar dbSNP ExAC gnomAD v4 |
| 3 | g.191375234T>A | CA437422209 | CCDC50 | c.621T>A (p.Ser207=) c.449-4925T>A (n.449-4925T>A) | |
| 3 | g.191375234T>C | CA437422210 | CCDC50 | c.621T>C (p.Ser207=) c.449-4925T>C (n.449-4925T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375234T>G | CA437422211 | CCDC50 | c.621T>G (p.Ser207=) c.449-4925T>G (n.449-4925T>G) | |
| 3 | g.191375234T= | CA1429222186 | CCDC50 | c.621T= (p.Ser207=) c.449-4925T= (n.449-4925T=) | |
| 3 | g.191375235A= | CA1429222187 | CCDC50 | c.622A= (p.Ser208=) c.449-4924A= (n.449-4924A=) | |
| 3 | g.191375235A>C | CA355764124 | CCDC50 | c.622A>C (p.Ser208Arg) c.449-4924A>C (n.449-4924A>C) | |
| 3 | g.191375235A>G | CA2755294 | CCDC50 | c.622A>G (p.Ser208Gly) c.449-4924A>G (n.449-4924A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375235A>T | CA355764125 | CCDC50 | c.622A>T (p.Ser208Cys) c.449-4924A>T (n.449-4924A>T) | |
| 3 | g.191375236G>A | CA355764126 | CCDC50 | c.623G>A (p.Ser208Asn) c.449-4923G>A (n.449-4923G>A) | |
| 3 | g.191375236G>C | CA355764127 | CCDC50 | c.623G>C (p.Ser208Thr) c.449-4923G>C (n.449-4923G>C) | |
| 3 | g.191375236G= | CA1429222188 | CCDC50 | c.623G= (p.Ser208=) c.449-4923G= (n.449-4923G=) | |
| 3 | g.191375236G>T | CA355764128 | CCDC50 | c.623G>T (p.Ser208Ile) c.449-4923G>T (n.449-4923G>T) | dbSNP |
| 3 | g.191375237C>A | CA355764129 | CCDC50 | c.624C>A (p.Ser208Arg) c.449-4922C>A (n.449-4922C>A) | |
| 3 | g.191375237C>G | CA355764130 | CCDC50 | c.624C>G (p.Ser208Arg) c.449-4922C>G (n.449-4922C>G) | |
| 3 | g.191375237C>T | CA437637526 | CCDC50 | c.624C>T (p.Ser208=) c.449-4922C>T (n.449-4922C>T) | |
| 3 | g.191375238T>A | CA355764131 | CCDC50 | c.625T>A (p.Ser209Thr) c.449-4921T>A (n.449-4921T>A) | |
| 3 | g.191375238T>C | CA355764132 | CCDC50 | c.625T>C (p.Ser209Pro) c.449-4921T>C (n.449-4921T>C) | |
| 3 | g.191375238T>G | CA355764133 | CCDC50 | c.625T>G (p.Ser209Ala) c.449-4921T>G (n.449-4921T>G) | |
| 3 | g.191375239C>A | CA355764135 | CCDC50 | c.626C>A (p.Ser209Ter) c.449-4920C>A (n.449-4920C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375239C= | CA1429222189 | CCDC50 | c.626C= (p.Ser209=) c.449-4920C= (n.449-4920C=) | |
| 3 | g.191375239C>G | CA355764134 | CCDC50 | c.626C>G (p.Ser209Trp) c.449-4920C>G (n.449-4920C>G) | |
| 3 | g.191375239C>T | CA182632 | CCDC50 | c.626C>T (p.Ser209Leu) c.449-4920C>T (n.449-4920C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375240G>A | CA2755295 | CCDC50 | c.627G>A (p.Ser209=) c.449-4919G>A (n.449-4919G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375240G>C | CA437637528 | CCDC50 | c.627G>C (p.Ser209=) c.449-4919G>C (n.449-4919G>C) | |
| 3 | g.191375240G= | CA1429222190 | CCDC50 | c.627G= (p.Ser209=) c.449-4919G= (n.449-4919G=) | |
| 3 | g.191375240G>T | CA437637530 | CCDC50 | c.627G>T (p.Ser209=) c.449-4919G>T (n.449-4919G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375241G>A | CA355764136 | CCDC50 | c.628G>A (p.Gly210Ser) c.449-4918G>A (n.449-4918G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375241G>C | CA355764137 | CCDC50 | c.628G>C (p.Gly210Arg) c.449-4918G>C (n.449-4918G>C) | |
| 3 | g.191375241G= | CA1429222191 | CCDC50 | c.628G= (p.Gly210=) c.449-4918G= (n.449-4918G=) | |
| 3 | g.191375241G>T | CA355764138 | CCDC50 | c.628G>T (p.Gly210Cys) c.449-4918G>T (n.449-4918G>T) | |
| 3 | g.191375242G>A | CA355764139 | CCDC50 | c.629G>A (p.Gly210Asp) c.449-4917G>A (n.449-4917G>A) | |
| 3 | g.191375242G>C | CA355764140 | CCDC50 | c.629G>C (p.Gly210Ala) c.449-4917G>C (n.449-4917G>C) | |
| 3 | g.191375242G= | CA1429222192 | CCDC50 | c.629G= (p.Gly210=) c.449-4917G= (n.449-4917G=) | |
| 3 | g.191375242G>T | CA355764141 | CCDC50 | c.629G>T (p.Gly210Val) c.449-4917G>T (n.449-4917G>T) | ClinVar dbSNP |
| 3 | g.191375243C>A | CA437637532 | CCDC50 | c.630C>A (p.Gly210=) c.449-4916C>A (n.449-4916C>A) | |
| 3 | g.191375243C>G | CA437637533 | CCDC50 | c.630C>G (p.Gly210=) c.449-4916C>G (n.449-4916C>G) | |
| 3 | g.191375243C>T | CA437637535 | CCDC50 | c.630C>T (p.Gly210=) c.449-4916C>T (n.449-4916C>T) | gnomAD v4 |
| 3 | g.191375244A>C | CA355764142 | CCDC50 | c.631A>C (p.Lys211Gln) c.449-4915A>C (n.449-4915A>C) | |
| 3 | g.191375244A>G | CA355764143 | CCDC50 | c.631A>G (p.Lys211Glu) c.449-4915A>G (n.449-4915A>G) | |
| 3 | g.191375244A>T | CA355764144 | CCDC50 | c.631A>T (p.Lys211Ter) c.449-4915A>T (n.449-4915A>T) | |
| 3 | g.191375245A>C | CA355764145 | CCDC50 | c.632A>C (p.Lys211Thr) c.449-4914A>C (n.449-4914A>C) | |
| 3 | g.191375245A>G | CA355764146 | CCDC50 | c.632A>G (p.Lys211Arg) c.449-4914A>G (n.449-4914A>G) | |
| 3 | g.191375245A>T | CA355764147 | CCDC50 | c.632A>T (p.Lys211Ile) c.449-4914A>T (n.449-4914A>T) | |
| 3 | g.191375246A>C | CA355764148 | CCDC50 | c.633A>C (p.Lys211Asn) c.449-4913A>C (n.449-4913A>C) | |
| 3 | g.191375246A>G | CA437637538 | CCDC50 | c.633A>G (p.Lys211=) c.449-4913A>G (n.449-4913A>G) | |
| 3 | g.191375246A>T | CA355764149 | CCDC50 | c.633A>T (p.Lys211Asn) c.449-4913A>T (n.449-4913A>T) | |
| 3 | g.191375247G>A | CA355764150 | CCDC50 | c.634G>A (p.Gly212Arg) c.449-4912G>A (n.449-4912G>A) | |
| 3 | g.191375247G>C | CA355764151 | CCDC50 | c.634G>C (p.Gly212Arg) c.449-4912G>C (n.449-4912G>C) | |
| 3 | g.191375247G>T | CA355764152 | CCDC50 | c.634G>T (p.Gly212Trp) c.449-4912G>T (n.449-4912G>T) | |
| 3 | g.191375248G>A | CA355764153 | CCDC50 | c.635G>A (p.Gly212Glu) c.449-4911G>A (n.449-4911G>A) | gnomAD v4 |
| 3 | g.191375248G>C | CA355764154 | CCDC50 | c.635G>C (p.Gly212Ala) c.449-4911G>C (n.449-4911G>C) | |
| 3 | g.191375248G>T | CA355764155 | CCDC50 | c.635G>T (p.Gly212Val) c.449-4911G>T (n.449-4911G>T) | |
| 3 | g.191375249G>A | CA437637542 | CCDC50 | c.636G>A (p.Gly212=) c.449-4910G>A (n.449-4910G>A) | |
| 3 | g.191375249G>C | CA437637540 | CCDC50 | c.636G>C (p.Gly212=) c.449-4910G>C (n.449-4910G>C) | |
| 3 | g.191375249G>T | CA437637541 | CCDC50 | c.636G>T (p.Gly212=) c.449-4910G>T (n.449-4910G>T) | |
| 3 | g.191375250A= | CA1429222193 | CCDC50 | c.637A= (p.Arg213=) c.449-4909A= (n.449-4909A=) | |
| 3 | g.191375250A>C | CA437637543 | CCDC50 | c.637A>C (p.Arg213=) c.449-4909A>C (n.449-4909A>C) | |
| 3 | g.191375250A>G | CA355764156 | CCDC50 | c.637A>G (p.Arg213Gly) c.449-4909A>G (n.449-4909A>G) | |
| 3 | g.191375250A>T | CA355764157 | CCDC50 | c.637A>T (p.Arg213Trp) c.449-4909A>T (n.449-4909A>T) | gnomAD v4 |
| 3 | g.191375250_191375251insT | CA548798677 | CCDC50 | c.637_638insT (p.Arg213MetfsTer7) c.449-4909_449-4908insT (n.449-4909_449-4908insT) | dbSNP gnomAD v2 |
| 3 | g.191375251G>A | CA355764158 | CCDC50 | c.638G>A (p.Arg213Lys) c.449-4908G>A (n.449-4908G>A) | gnomAD v4 |
| 3 | g.191375251G>C | CA355764159 | CCDC50 | c.638G>C (p.Arg213Thr) c.449-4908G>C (n.449-4908G>C) | dbSNP |
| 3 | g.191375251G= | CA1429222194 | CCDC50 | c.638G= (p.Arg213=) c.449-4908G= (n.449-4908G=) | |
| 3 | g.191375251G>T | CA355764160 | CCDC50 | c.638G>T (p.Arg213Met) c.449-4908G>T (n.449-4908G>T) | COSMIC |
| 3 | g.191375252G>A | CA437637545 | CCDC50 | c.639G>A (p.Arg213=) c.449-4907G>A (n.449-4907G>A) | |
| 3 | g.191375252G>C | CA355764161 | CCDC50 | c.639G>C (p.Arg213Ser) c.449-4907G>C (n.449-4907G>C) | |
| 3 | g.191375252G>T | CA355764162 | CCDC50 | c.639G>T (p.Arg213Ser) c.449-4907G>T (n.449-4907G>T) | |
| 3 | g.191375253G>A | CA355764165 | CCDC50 | c.640G>A (p.Asp214Asn) c.449-4906G>A (n.449-4906G>A) | |
| 3 | g.191375253G>C | CA355764163 | CCDC50 | c.640G>C (p.Asp214His) c.449-4906G>C (n.449-4906G>C) | |
| 3 | g.191375253G>T | CA355764164 | CCDC50 | c.640G>T (p.Asp214Tyr) c.449-4906G>T (n.449-4906G>T) | |
| 3 | g.191375253_191375254delinsGA | CA1429222195 | CCDC50 | c.640_641delinsGA (p.Asp214=) c.449-4906_449-4905delinsGA (n.449-4906_449-4905delinsGA) | |
| 3 | g.191375254del | CA2755296 | CCDC50 | c.641del (p.Asp214AlafsTer?) c.449-4905del (n.449-4905del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375254A= | CA1429222196 | CCDC50 | c.641A= (p.Asp214=) c.449-4905A= (n.449-4905A=) | |
| 3 | g.191375254A>C | CA355764166 | CCDC50 | c.641A>C (p.Asp214Ala) c.449-4905A>C (n.449-4905A>C) | |
| 3 | g.191375254A>G | CA2755297 | CCDC50 | c.641A>G (p.Asp214Gly) c.449-4905A>G (n.449-4905A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375254A>T | CA355764167 | CCDC50 | c.641A>T (p.Asp214Val) c.449-4905A>T (n.449-4905A>T) | |
| 3 | g.191375255C>A | CA355764168 | CCDC50 | c.642C>A (p.Asp214Glu) c.449-4904C>A (n.449-4904C>A) | |
| 3 | g.191375255C>G | CA355764169 | CCDC50 | c.642C>G (p.Asp214Glu) c.449-4904C>G (n.449-4904C>G) | |
| 3 | g.191375255C>T | CA437637546 | CCDC50 | c.642C>T (p.Asp214=) c.449-4904C>T (n.449-4904C>T) | gnomAD v4 |
| 3 | g.191375256A= | CA1429222197 | CCDC50 | c.643A= (p.Asn215=) c.449-4903A= (n.449-4903A=) | |
| 3 | g.191375256A>C | CA355764170 | CCDC50 | c.643A>C (p.Asn215His) c.449-4903A>C (n.449-4903A>C) | |
| 3 | g.191375256A>G | CA2755298 | CCDC50 | c.643A>G (p.Asn215Asp) c.449-4903A>G (n.449-4903A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375256A>T | CA355764171 | CCDC50 | c.643A>T (p.Asn215Tyr) c.449-4903A>T (n.449-4903A>T) | |
| 3 | g.191375257A>C | CA355764172 | CCDC50 | c.644A>C (p.Asn215Thr) c.449-4902A>C (n.449-4902A>C) | |
| 3 | g.191375257A>G | CA355764173 | CCDC50 | c.644A>G (p.Asn215Ser) c.449-4902A>G (n.449-4902A>G) | |
| 3 | g.191375257A>T | CA355764174 | CCDC50 | c.644A>T (p.Asn215Ile) c.449-4902A>T (n.449-4902A>T) | |
| 3 | g.191375258T>A | CA355764175 | CCDC50 | c.645T>A (p.Asn215Lys) c.449-4901T>A (n.449-4901T>A) | dbSNP gnomAD v4 |
| 3 | g.191375258T>C | CA437637549 | CCDC50 | c.645T>C (p.Asn215=) c.449-4901T>C (n.449-4901T>C) | |
| 3 | g.191375258T>G | CA355764176 | CCDC50 | c.645T>G (p.Asn215Lys) c.449-4901T>G (n.449-4901T>G) | |
| 3 | g.191375258T= | CA1429222198 | CCDC50 | c.645T= (p.Asn215=) c.449-4901T= (n.449-4901T=) | |
| 3 | g.191375259C>A | CA355764177 | CCDC50 | c.646C>A (p.Pro216Thr) c.449-4900C>A (n.449-4900C>A) | gnomAD v4 |
| 3 | g.191375259C>G | CA355764179 | CCDC50 | c.646C>G (p.Pro216Ala) c.449-4900C>G (n.449-4900C>G) | |
| 3 | g.191375259C>T | CA355764178 | CCDC50 | c.646C>T (p.Pro216Ser) c.449-4900C>T (n.449-4900C>T) | |
| 3 | g.191375260C>A | CA355764180 | CCDC50 | c.647C>A (p.Pro216His) c.449-4899C>A (n.449-4899C>A) | |
| 3 | g.191375260C= | CA1429222199 | CCDC50 | c.647C= (p.Pro216=) c.449-4899C= (n.449-4899C=) | |
| 3 | g.191375260C>G | CA355764181 | CCDC50 | c.647C>G (p.Pro216Arg) c.449-4899C>G (n.449-4899C>G) | |
| 3 | g.191375260C>T | CA355764182 | CCDC50 | c.647C>T (p.Pro216Leu) c.449-4899C>T (n.449-4899C>T) | dbSNP |
| 3 | g.191375261C>A | CA437637553 | CCDC50 | c.648C>A (p.Pro216=) c.449-4898C>A (n.449-4898C>A) | |
| 3 | g.191375261C= | CA1429222200 | CCDC50 | c.648C= (p.Pro216=) c.449-4898C= (n.449-4898C=) | |
| 3 | g.191375261C>G | CA437637554 | CCDC50 | c.648C>G (p.Pro216=) c.449-4898C>G (n.449-4898C>G) | |
| 3 | g.191375261C>T | CA437637555 | CCDC50 | c.648C>T (p.Pro216=) c.449-4898C>T (n.449-4898C>T) | dbSNP gnomAD v4 |
| 3 | g.191375261_191375264delinsCCAT | CA1429222201 | CCDC50 | c.648_651delinsCCAT (p.Pro216=) c.449-4898_449-4895delinsCCAT (n.449-4898_449-4895delinsCCAT) | |
| 3 | g.191375262C>A | CA355764183 | CCDC50 | c.649C>A (p.His217Asn) c.449-4897C>A (n.449-4897C>A) | |
| 3 | g.191375262C= | CA1429222203 | CCDC50 | c.649C= (p.His217=) c.449-4897C= (n.449-4897C=) | |
| 3 | g.191375262C>G | CA355764184 | CCDC50 | c.649C>G (p.His217Asp) c.449-4897C>G (n.449-4897C>G) | dbSNP |
| 3 | g.191375262C>T | CA355764185 | CCDC50 | c.649C>T (p.His217Tyr) c.449-4897C>T (n.449-4897C>T) | |
| 3 | g.191375262_191375264del | CA1429222202 | CCDC50 | c.649_651del (p.His217del) c.449-4897_449-4895del (n.449-4897_449-4895del) | dbSNP |
| 3 | g.191375263A>C | CA355764186 | CCDC50 | c.650A>C (p.His217Pro) c.449-4896A>C (n.449-4896A>C) | |
| 3 | g.191375263A>G | CA355764187 | CCDC50 | c.650A>G (p.His217Arg) c.449-4896A>G (n.449-4896A>G) | gnomAD v4 |
| 3 | g.191375263A>T | CA355764188 | CCDC50 | c.650A>T (p.His217Leu) c.449-4896A>T (n.449-4896A>T) | gnomAD v4 |
| 3 | g.191375264T>A | CA355764189 | CCDC50 | c.651T>A (p.His217Gln) c.449-4895T>A (n.449-4895T>A) | |
| 3 | g.191375264T>C | CA142717 | CCDC50 | c.651T>C (p.His217=) c.449-4895T>C (n.449-4895T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375264T>G | CA355764190 | CCDC50 | c.651T>G (p.His217Gln) c.449-4895T>G (n.449-4895T>G) | |
| 3 | g.191375264T= | CA1429222204 | CCDC50 | c.651T= (p.His217=) c.449-4895T= (n.449-4895T=) | |
| 3 | g.191375265A= | CA1429222205 | CCDC50 | c.652A= (p.Ile218=) c.449-4894A= (n.449-4894A=) | |
| 3 | g.191375265A>C | CA355764193 | CCDC50 | c.652A>C (p.Ile218Leu) c.449-4894A>C (n.449-4894A>C) | |
| 3 | g.191375265A>G | CA355764192 | CCDC50 | c.652A>G (p.Ile218Val) c.449-4894A>G (n.449-4894A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375265A>T | CA355764191 | CCDC50 | c.652A>T (p.Ile218Phe) c.449-4894A>T (n.449-4894A>T) | |
| 3 | g.191375266T>A | CA355764194 | CCDC50 | c.653T>A (p.Ile218Asn) c.449-4893T>A (n.449-4893T>A) | |
| 3 | g.191375266T>C | CA2755299 | CCDC50 | c.653T>C (p.Ile218Thr) c.449-4893T>C (n.449-4893T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.191375266T>G | CA355764195 | CCDC50 | c.653T>G (p.Ile218Ser) c.449-4893T>G (n.449-4893T>G) | |
| 3 | g.191375266T= | CA1429222206 | CCDC50 | c.653T= (p.Ile218=) c.449-4893T= (n.449-4893T=) | |
| 3 | g.191375267T>A | CA437637561 | CCDC50 | c.654T>A (p.Ile218=) c.449-4892T>A (n.449-4892T>A) | |
| 3 | g.191375267T>C | CA437637562 | CCDC50 | c.654T>C (p.Ile218=) c.449-4892T>C (n.449-4892T>C) | |
| 3 | g.191375267T>G | CA355764196 | CCDC50 | c.654T>G (p.Ile218Met) c.449-4892T>G (n.449-4892T>G) | |
| 3 | g.191375267T= | CA1429222207 | CCDC50 | c.654T= (p.Ile218=) c.449-4892T= (n.449-4892T=) | |
| 3 | g.191375268A= | CA1429222208 | CCDC50 | c.655A= (p.Asn219=) c.449-4891A= (n.449-4891A=) | |
| 3 | g.191375268A>C | CA355764197 | CCDC50 | c.655A>C (p.Asn219His) c.449-4891A>C (n.449-4891A>C) | |
| 3 | g.191375268A>G | CA2755301 | CCDC50 | c.655A>G (p.Asn219Asp) c.449-4891A>G (n.449-4891A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375268A>T | CA355764198 | CCDC50 | c.655A>T (p.Asn219Tyr) c.449-4891A>T (n.449-4891A>T) | |
| 3 | g.191375268_191375269dup | CA2755300 | CCDC50 | c.655_656dup (p.Asn219LysfsTer30) c.449-4891_449-4890dup (n.449-4891_449-4890dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375269A>C | CA355764199 | CCDC50 | c.656A>C (p.Asn219Thr) c.449-4890A>C (n.449-4890A>C) | |
| 3 | g.191375269A>G | CA355764200 | CCDC50 | c.656A>G (p.Asn219Ser) c.449-4890A>G (n.449-4890A>G) | |
| 3 | g.191375269A>T | CA355764201 | CCDC50 | c.656A>T (p.Asn219Ile) c.449-4890A>T (n.449-4890A>T) | |
| 3 | g.191375270C>A | CA355764202 | CCDC50 | c.657C>A (p.Asn219Lys) c.449-4889C>A (n.449-4889C>A) | |
| 3 | g.191375270C= | CA1429222209 | CCDC50 | c.657C= (p.Asn219=) c.449-4889C= (n.449-4889C=) | |
| 3 | g.191375270C>G | CA355764203 | CCDC50 | c.657C>G (p.Asn219Lys) c.449-4889C>G (n.449-4889C>G) | |
| 3 | g.191375270C>T | CA437637565 | CCDC50 | c.657C>T (p.Asn219=) c.449-4889C>T (n.449-4889C>T) | |
| 3 | g.191375271A>C | CA355764205 | CCDC50 | c.658A>C (p.Asn220His) c.449-4888A>C (n.449-4888A>C) | |
| 3 | g.191375271A>G | CA355764206 | CCDC50 | c.658A>G (p.Asn220Asp) c.449-4888A>G (n.449-4888A>G) | |
| 3 | g.191375271A>T | CA355764204 | CCDC50 | c.658A>T (p.Asn220Tyr) c.449-4888A>T (n.449-4888A>T) | |
| 3 | g.191375272dup | CA904368683 | CCDC50 | c.659dup (p.Asn220LysfsTer2) c.449-4887dup (n.449-4887dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.191375272A= | CA1429222210 | CCDC50 | c.659A= (p.Asn220=) c.449-4887A= (n.449-4887A=) | |
| 3 | g.191375272A>C | CA355764207 | CCDC50 | c.659A>C (p.Asn220Thr) c.449-4887A>C (n.449-4887A>C) | |
| 3 | g.191375272A>G | CA355764208 | CCDC50 | c.659A>G (p.Asn220Ser) c.449-4887A>G (n.449-4887A>G) | dbSNP gnomAD v4 |
| 3 | g.191375272A>T | CA355764209 | CCDC50 | c.659A>T (p.Asn220Ile) c.449-4887A>T (n.449-4887A>T) | |
| 3 | g.191375273T>A | CA355764210 | CCDC50 | c.660T>A (p.Asn220Lys) c.449-4886T>A (n.449-4886T>A) | |
| 3 | g.191375273T>C | CA2755302 | CCDC50 | c.660T>C (p.Asn220=) c.449-4886T>C (n.449-4886T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.191375273T>G | CA355764211 | CCDC50 | c.660T>G (p.Asn220Lys) c.449-4886T>G (n.449-4886T>G) | |
| 3 | g.191375273T= | CA1429222211 | CCDC50 | c.660T= (p.Asn220=) c.449-4886T= (n.449-4886T=) | |
| 3 | g.191375274G>A | CA355764212 | CCDC50 | c.661G>A (p.Glu221Lys) c.449-4885G>A (n.449-4885G>A) | gnomAD v4 |
| 3 | g.191375274G>C | CA355764213 | CCDC50 | c.661G>C (p.Glu221Gln) c.449-4885G>C (n.449-4885G>C) | |
| 3 | g.191375274G>T | CA355764214 | CCDC50 | c.661G>T (p.Glu221Ter) c.449-4885G>T (n.449-4885G>T) | |
| 3 | g.191375275A>C | CA355764215 | CCDC50 | c.662A>C (p.Glu221Ala) c.449-4884A>C (n.449-4884A>C) | |
| 3 | g.191375275A>G | CA355764216 | CCDC50 | c.662A>G (p.Glu221Gly) c.449-4884A>G (n.449-4884A>G) | |
| 3 | g.191375275A>T | CA355764217 | CCDC50 | c.662A>T (p.Glu221Val) c.449-4884A>T (n.449-4884A>T) | |
| 3 | g.191375276G>A | CA437637572 | CCDC50 | c.663G>A (p.Glu221=) c.449-4883G>A (n.449-4883G>A) | gnomAD v4 |
| 3 | g.191375276G>C | CA355764219 | CCDC50 | c.663G>C (p.Glu221Asp) c.449-4883G>C (n.449-4883G>C) | gnomAD v4 |
| 3 | g.191375276G>T | CA355764218 | CCDC50 | c.663G>T (p.Glu221Asp) c.449-4883G>T (n.449-4883G>T) | |
| 3 | g.191375277C>A | CA355764220 | CCDC50 | c.664C>A (p.Gln222Lys) c.449-4882C>A (n.449-4882C>A) | |
| 3 | g.191375277C>G | CA355764221 | CCDC50 | c.664C>G (p.Gln222Glu) c.449-4882C>G (n.449-4882C>G) | |
| 3 | g.191375277C>T | CA355764222 | CCDC50 | c.664C>T (p.Gln222Ter) c.449-4882C>T (n.449-4882C>T) | |
| 3 | g.191375278A= | CA1429222212 | CCDC50 | c.665A= (p.Gln222=) c.449-4881A= (n.449-4881A=) | |
| 3 | g.191375278A>C | CA355764223 | CCDC50 | c.665A>C (p.Gln222Pro) c.449-4881A>C (n.449-4881A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375278A>G | CA355764224 | CCDC50 | c.665A>G (p.Gln222Arg) c.449-4881A>G (n.449-4881A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.191375278A>T | CA355764225 | CCDC50 | c.665A>T (p.Gln222Leu) c.449-4881A>T (n.449-4881A>T) |