| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71793320_71793322del | CA5546067 | CDH23 | c.6392_6394del (p.Thr2131del) c.6407_6409del (p.Thr2136del) c.6587_6589del (p.Thr2196del) c.6521_6523del (p.Thr2174del) c.6584_6586del (p.Thr2195del) c.6581_6583del (p.Thr2194del) c.6527_6529del (p.Thr2176del) c.6577+10_6577+12del (n.6577+10_6577+12del) c.6452_6454del (p.Thr2151del) c.6047_6049del (p.Thr2016del) c.5405_5407del (p.Thr1802del) c.2915_2917del (p.Thr972del) n.6830_6832del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71793319_71793320delinsAC | CA1918874252 | CDH23 | c.6391_6392delinsAC (p.Thr2131=) c.6406_6407delinsAC (p.Thr2136=) c.6586_6587delinsAC (p.Thr2196=) c.6520_6521delinsAC (p.Thr2174=) c.6583_6584delinsAC (p.Thr2195=) c.6580_6581delinsAC (p.Thr2194=) c.6526_6527delinsAC (p.Thr2176=) c.6577+9_6577+10delinsAC (n.6577+9_6577+10delinsAC) c.6451_6452delinsAC (p.Thr2151=) c.6046_6047delinsAC (p.Thr2016=) c.5404_5405delinsAC (p.Thr1802=) c.2914_2915delinsAC (p.Thr972=) n.6829_6830delinsAC | |
| 10 | g.71793320C>A | CA377154730 | CDH23 | c.6392C>A (p.Thr2131Asn) c.6407C>A (p.Thr2136Asn) c.6587C>A (p.Thr2196Asn) c.6521C>A (p.Thr2174Asn) c.6584C>A (p.Thr2195Asn) c.6581C>A (p.Thr2194Asn) c.6527C>A (p.Thr2176Asn) c.6577+10C>A (n.6577+10C>A) c.6452C>A (p.Thr2151Asn) c.6047C>A (p.Thr2016Asn) c.5405C>A (p.Thr1802Asn) c.2915C>A (p.Thr972Asn) n.6830C>A | |
| 10 | g.71793320C= | CA1918874256 | CDH23 | c.6392C= (p.Thr2131=) c.6407C= (p.Thr2136=) c.6587C= (p.Thr2196=) c.6521C= (p.Thr2174=) c.6584C= (p.Thr2195=) c.6581C= (p.Thr2194=) c.6527C= (p.Thr2176=) c.6577+10C= (n.6577+10C=) c.6452C= (p.Thr2151=) c.6047C= (p.Thr2016=) c.5405C= (p.Thr1802=) c.2915C= (p.Thr972=) n.6830C= | |
| 10 | g.71793320C>G | CA5546069 | CDH23 | c.6392C>G (p.Thr2131Ser) c.6407C>G (p.Thr2136Ser) c.6587C>G (p.Thr2196Ser) c.6521C>G (p.Thr2174Ser) c.6584C>G (p.Thr2195Ser) c.6581C>G (p.Thr2194Ser) c.6527C>G (p.Thr2176Ser) c.6577+10C>G (n.6577+10C>G) c.6452C>G (p.Thr2151Ser) c.6047C>G (p.Thr2016Ser) c.5405C>G (p.Thr1802Ser) c.2915C>G (p.Thr972Ser) n.6830C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71793320C>T | CA377154728 | CDH23 | c.6392C>T (p.Thr2131Ile) c.6407C>T (p.Thr2136Ile) c.6587C>T (p.Thr2196Ile) c.6521C>T (p.Thr2174Ile) c.6584C>T (p.Thr2195Ile) c.6581C>T (p.Thr2194Ile) c.6527C>T (p.Thr2176Ile) c.6577+10C>T (n.6577+10C>T) c.6452C>T (p.Thr2151Ile) c.6047C>T (p.Thr2016Ile) c.5405C>T (p.Thr1802Ile) c.2915C>T (p.Thr972Ile) n.6830C>T | gnomAD v4 |
| 10 | g.71793321del | CA5546068 | CDH23 | c.6393del (p.Ile2132SerfsTer11) c.6408del (p.Ile2137SerfsTer11) c.6588del (p.Ile2197SerfsTer11) c.6522del (p.Ile2175SerfsTer11) c.6585del (p.Ile2196SerfsTer11) c.6582del (p.Ile2195SerfsTer11) c.6528del (p.Ile2177SerfsTer11) c.6577+11del (n.6577+11del) c.6453del (p.Ile2152SerfsTer11) c.6048del (p.Ile2017SerfsTer11) c.5406del (p.Ile1803SerfsTer11) c.2916del (p.Ile973SerfsTer11) n.6831del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793320_71793321insA | CA2695212171 | CDH23 | c.6392_6393insA (p.Ile2132HisfsTer?) c.6407_6408insA (p.Ile2137HisfsTer?) c.6587_6588insA (p.Ile2197HisfsTer?) c.6521_6522insA (p.Ile2175HisfsTer?) c.6584_6585insA (p.Ile2196HisfsTer?) c.6581_6582insA (p.Ile2195HisfsTer?) c.6527_6528insA (p.Ile2177HisfsTer?) c.6577+10_6577+11insA (n.6577+10_6577+11insA) c.6452_6453insA (p.Ile2152HisfsTer?) c.6047_6048insA (p.Ile2017HisfsTer?) c.5405_5406insA (p.Ile1803HisfsTer?) c.2915_2916insA (p.Ile973HisfsTer?) n.6830_6831insA | |
| 10 | g.71793321C>G | CA2609580476 | CDH23 | c.6393C>G (p.Thr2131=) c.6408C>G (p.Thr2136=) c.6588C>G (p.Thr2196=) c.6522C>G (p.Thr2174=) c.6585C>G (p.Thr2195=) c.6582C>G (p.Thr2194=) c.6528C>G (p.Thr2176=) c.6577+11C>G (n.6577+11C>G) c.6453C>G (p.Thr2151=) c.6048C>G (p.Thr2016=) c.5406C>G (p.Thr1802=) c.2916C>G (p.Thr972=) n.6831C>G | gnomAD v4 |
| 10 | g.71793322A= | CA1918874259 | CDH23 | c.6394A= (p.Ile2132=) c.6409A= (p.Ile2137=) c.6589A= (p.Ile2197=) c.6523A= (p.Ile2175=) c.6586A= (p.Ile2196=) c.6583A= (p.Ile2195=) c.6529A= (p.Ile2177=) c.6577+12A= (n.6577+12A=) c.6454A= (p.Ile2152=) c.6049A= (p.Ile2017=) c.5407A= (p.Ile1803=) c.2917A= (p.Ile973=) n.6832A= | |
| 10 | g.71793322A>C | CA377154732 | CDH23 | c.6394A>C (p.Ile2132Leu) c.6409A>C (p.Ile2137Leu) c.6589A>C (p.Ile2197Leu) c.6523A>C (p.Ile2175Leu) c.6586A>C (p.Ile2196Leu) c.6583A>C (p.Ile2195Leu) c.6529A>C (p.Ile2177Leu) c.6577+12A>C (n.6577+12A>C) c.6454A>C (p.Ile2152Leu) c.6049A>C (p.Ile2017Leu) c.5407A>C (p.Ile1803Leu) c.2917A>C (p.Ile973Leu) n.6832A>C | |
| 10 | g.71793322A>G | CA5546070 | CDH23 | c.6394A>G (p.Ile2132Val) c.6409A>G (p.Ile2137Val) c.6589A>G (p.Ile2197Val) c.6523A>G (p.Ile2175Val) c.6586A>G (p.Ile2196Val) c.6583A>G (p.Ile2195Val) c.6529A>G (p.Ile2177Val) c.6577+12A>G (n.6577+12A>G) c.6454A>G (p.Ile2152Val) c.6049A>G (p.Ile2017Val) c.5407A>G (p.Ile1803Val) c.2917A>G (p.Ile973Val) n.6832A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71793322A>T | CA377154736 | CDH23 | c.6394A>T (p.Ile2132Phe) c.6409A>T (p.Ile2137Phe) c.6589A>T (p.Ile2197Phe) c.6523A>T (p.Ile2175Phe) c.6586A>T (p.Ile2196Phe) c.6583A>T (p.Ile2195Phe) c.6529A>T (p.Ile2177Phe) c.6577+12A>T (n.6577+12A>T) c.6454A>T (p.Ile2152Phe) c.6049A>T (p.Ile2017Phe) c.5407A>T (p.Ile1803Phe) c.2917A>T (p.Ile973Phe) n.6832A>T | gnomAD v4 |
| 10 | g.71793323T>A | CA377154741 | CDH23 | c.6395T>A (p.Ile2132Asn) c.6410T>A (p.Ile2137Asn) c.6590T>A (p.Ile2197Asn) c.6524T>A (p.Ile2175Asn) c.6587T>A (p.Ile2196Asn) c.6584T>A (p.Ile2195Asn) c.6530T>A (p.Ile2177Asn) c.6577+13T>A (n.6577+13T>A) c.6455T>A (p.Ile2152Asn) c.6050T>A (p.Ile2017Asn) c.5408T>A (p.Ile1803Asn) c.2918T>A (p.Ile973Asn) n.6833T>A | |
| 10 | g.71793323T>C | CA377154742 | CDH23 | c.6395T>C (p.Ile2132Thr) c.6410T>C (p.Ile2137Thr) c.6590T>C (p.Ile2197Thr) c.6524T>C (p.Ile2175Thr) c.6587T>C (p.Ile2196Thr) c.6584T>C (p.Ile2195Thr) c.6530T>C (p.Ile2177Thr) c.6577+13T>C (n.6577+13T>C) c.6455T>C (p.Ile2152Thr) c.6050T>C (p.Ile2017Thr) c.5408T>C (p.Ile1803Thr) c.2918T>C (p.Ile973Thr) n.6833T>C | |
| 10 | g.71793323T>G | CA377154746 | CDH23 | c.6395T>G (p.Ile2132Ser) c.6410T>G (p.Ile2137Ser) c.6590T>G (p.Ile2197Ser) c.6524T>G (p.Ile2175Ser) c.6587T>G (p.Ile2196Ser) c.6584T>G (p.Ile2195Ser) c.6530T>G (p.Ile2177Ser) c.6577+13T>G (n.6577+13T>G) c.6455T>G (p.Ile2152Ser) c.6050T>G (p.Ile2017Ser) c.5408T>G (p.Ile1803Ser) c.2918T>G (p.Ile973Ser) n.6833T>G | |
| 10 | g.71793324del | CA2695212172 | CDH23 | c.6396del (p.Ile2132MetfsTer11) c.6411del (p.Ile2137MetfsTer11) c.6591del (p.Ile2197MetfsTer11) c.6525del (p.Ile2175MetfsTer11) c.6588del (p.Ile2196MetfsTer11) c.6585del (p.Ile2195MetfsTer11) c.6531del (p.Ile2177MetfsTer11) c.6577+14del (n.6577+14del) c.6456del (p.Ile2152MetfsTer11) c.6051del (p.Ile2017MetfsTer11) c.5409del (p.Ile1803MetfsTer11) c.2919del (p.Ile973MetfsTer11) n.6834del | |
| 10 | g.71793324C>A | CA2609580486 | CDH23 | c.6396C>A (p.Ile2132=) c.6411C>A (p.Ile2137=) c.6591C>A (p.Ile2197=) c.6525C>A (p.Ile2175=) c.6588C>A (p.Ile2196=) c.6585C>A (p.Ile2195=) c.6531C>A (p.Ile2177=) c.6577+14C>A (n.6577+14C>A) c.6456C>A (p.Ile2152=) c.6051C>A (p.Ile2017=) c.5409C>A (p.Ile1803=) c.2919C>A (p.Ile973=) n.6834C>A | gnomAD v4 |
| 10 | g.71793324C= | CA1918874260 | CDH23 | c.6396C= (p.Ile2132=) c.6411C= (p.Ile2137=) c.6591C= (p.Ile2197=) c.6525C= (p.Ile2175=) c.6588C= (p.Ile2196=) c.6585C= (p.Ile2195=) c.6531C= (p.Ile2177=) c.6577+14C= (n.6577+14C=) c.6456C= (p.Ile2152=) c.6051C= (p.Ile2017=) c.5409C= (p.Ile1803=) c.2919C= (p.Ile973=) n.6834C= | |
| 10 | g.71793324C>G | CA377154751 | CDH23 | c.6396C>G (p.Ile2132Met) c.6411C>G (p.Ile2137Met) c.6591C>G (p.Ile2197Met) c.6525C>G (p.Ile2175Met) c.6588C>G (p.Ile2196Met) c.6585C>G (p.Ile2195Met) c.6531C>G (p.Ile2177Met) c.6577+14C>G (n.6577+14C>G) c.6456C>G (p.Ile2152Met) c.6051C>G (p.Ile2017Met) c.5409C>G (p.Ile1803Met) c.2919C>G (p.Ile973Met) n.6834C>G | dbSNP gnomAD v4 |
| 10 | g.71793324C>T | CA594705920 | CDH23 | c.6396C>T (p.Ile2132=) c.6411C>T (p.Ile2137=) c.6591C>T (p.Ile2197=) c.6525C>T (p.Ile2175=) c.6588C>T (p.Ile2196=) c.6585C>T (p.Ile2195=) c.6531C>T (p.Ile2177=) c.6577+14C>T (n.6577+14C>T) c.6456C>T (p.Ile2152=) c.6051C>T (p.Ile2017=) c.5409C>T (p.Ile1803=) c.2919C>T (p.Ile973=) n.6834C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793325G>A | CA209466072 | CDH23 | c.6397G>A (p.Asp2133Asn) c.6412G>A (p.Asp2138Asn) c.6592G>A (p.Asp2198Asn) c.6526G>A (p.Asp2176Asn) c.6589G>A (p.Asp2197Asn) c.6586G>A (p.Asp2196Asn) c.6532G>A (p.Asp2178Asn) c.6577+15G>A (n.6577+15G>A) c.6457G>A (p.Asp2153Asn) c.6052G>A (p.Asp2018Asn) c.5410G>A (p.Asp1804Asn) c.2920G>A (p.Asp974Asn) n.6835G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793325G>C | CA377154758 | CDH23 | c.6397G>C (p.Asp2133His) c.6412G>C (p.Asp2138His) c.6592G>C (p.Asp2198His) c.6526G>C (p.Asp2176His) c.6589G>C (p.Asp2197His) c.6586G>C (p.Asp2196His) c.6532G>C (p.Asp2178His) c.6577+15G>C (n.6577+15G>C) c.6457G>C (p.Asp2153His) c.6052G>C (p.Asp2018His) c.5410G>C (p.Asp1804His) c.2920G>C (p.Asp974His) n.6835G>C | dbSNP |
| 10 | g.71793325G= | CA1918874262 | CDH23 | c.6397G= (p.Asp2133=) c.6412G= (p.Asp2138=) c.6592G= (p.Asp2198=) c.6526G= (p.Asp2176=) c.6589G= (p.Asp2197=) c.6586G= (p.Asp2196=) c.6532G= (p.Asp2178=) c.6577+15G= (n.6577+15G=) c.6457G= (p.Asp2153=) c.6052G= (p.Asp2018=) c.5410G= (p.Asp1804=) c.2920G= (p.Asp974=) n.6835G= | |
| 10 | g.71793325G>T | CA377154762 | CDH23 | c.6397G>T (p.Asp2133Tyr) c.6412G>T (p.Asp2138Tyr) c.6592G>T (p.Asp2198Tyr) c.6526G>T (p.Asp2176Tyr) c.6589G>T (p.Asp2197Tyr) c.6586G>T (p.Asp2196Tyr) c.6532G>T (p.Asp2178Tyr) c.6577+15G>T (n.6577+15G>T) c.6457G>T (p.Asp2153Tyr) c.6052G>T (p.Asp2018Tyr) c.5410G>T (p.Asp1804Tyr) c.2920G>T (p.Asp974Tyr) n.6835G>T | |
| 10 | g.71793326A>C | CA377154776 | CDH23 | c.6398A>C (p.Asp2133Ala) c.6413A>C (p.Asp2138Ala) c.6593A>C (p.Asp2198Ala) c.6527A>C (p.Asp2176Ala) c.6590A>C (p.Asp2197Ala) c.6587A>C (p.Asp2196Ala) c.6533A>C (p.Asp2178Ala) c.6577+16A>C (n.6577+16A>C) c.6458A>C (p.Asp2153Ala) c.6053A>C (p.Asp2018Ala) c.5411A>C (p.Asp1804Ala) c.2921A>C (p.Asp974Ala) n.6836A>C | |
| 10 | g.71793326A>G | CA377154767 | CDH23 | c.6398A>G (p.Asp2133Gly) c.6413A>G (p.Asp2138Gly) c.6593A>G (p.Asp2198Gly) c.6527A>G (p.Asp2176Gly) c.6590A>G (p.Asp2197Gly) c.6587A>G (p.Asp2196Gly) c.6533A>G (p.Asp2178Gly) c.6577+16A>G (n.6577+16A>G) c.6458A>G (p.Asp2153Gly) c.6053A>G (p.Asp2018Gly) c.5411A>G (p.Asp1804Gly) c.2921A>G (p.Asp974Gly) n.6836A>G | |
| 10 | g.71793326A>T | CA377154764 | CDH23 | c.6398A>T (p.Asp2133Val) c.6413A>T (p.Asp2138Val) c.6593A>T (p.Asp2198Val) c.6527A>T (p.Asp2176Val) c.6590A>T (p.Asp2197Val) c.6587A>T (p.Asp2196Val) c.6533A>T (p.Asp2178Val) c.6577+16A>T (n.6577+16A>T) c.6458A>T (p.Asp2153Val) c.6053A>T (p.Asp2018Val) c.5411A>T (p.Asp1804Val) c.2921A>T (p.Asp974Val) n.6836A>T | |
| 10 | g.71793327C>A | CA377154783 | CDH23 | c.6399C>A (p.Asp2133Glu) c.6414C>A (p.Asp2138Glu) c.6594C>A (p.Asp2198Glu) c.6528C>A (p.Asp2176Glu) c.6591C>A (p.Asp2197Glu) c.6588C>A (p.Asp2196Glu) c.6534C>A (p.Asp2178Glu) c.6577+17C>A (n.6577+17C>A) c.6459C>A (p.Asp2153Glu) c.6054C>A (p.Asp2018Glu) c.5412C>A (p.Asp1804Glu) c.2922C>A (p.Asp974Glu) n.6837C>A | |
| 10 | g.71793327C>G | CA377154780 | CDH23 | c.6399C>G (p.Asp2133Glu) c.6414C>G (p.Asp2138Glu) c.6594C>G (p.Asp2198Glu) c.6528C>G (p.Asp2176Glu) c.6591C>G (p.Asp2197Glu) c.6588C>G (p.Asp2196Glu) c.6534C>G (p.Asp2178Glu) c.6577+17C>G (n.6577+17C>G) c.6459C>G (p.Asp2153Glu) c.6054C>G (p.Asp2018Glu) c.5412C>G (p.Asp1804Glu) c.2922C>G (p.Asp974Glu) n.6837C>G | |
| 10 | g.71793327C>T | CA2573145264 | CDH23 | c.6399C>T (p.Asp2133=) c.6414C>T (p.Asp2138=) c.6594C>T (p.Asp2198=) c.6528C>T (p.Asp2176=) c.6591C>T (p.Asp2197=) c.6588C>T (p.Asp2196=) c.6534C>T (p.Asp2178=) c.6577+17C>T (n.6577+17C>T) c.6459C>T (p.Asp2153=) c.6054C>T (p.Asp2018=) c.5412C>T (p.Asp1804=) c.2922C>T (p.Asp974=) n.6837C>T | ClinVar dbSNP |
| 10 | g.71793327_71793331delinsCAGAG | CA1918874263 | CDH23 | c.6399_6403delinsCAGAG (p.Asp2133=) c.6414_6418delinsCAGAG (p.Asp2138=) c.6594_6598delinsCAGAG (p.Asp2198=) c.6528_6532delinsCAGAG (p.Asp2176=) c.6591_6595delinsCAGAG (p.Asp2197=) c.6588_6592delinsCAGAG (p.Asp2196=) c.6534_6538delinsCAGAG (p.Asp2178=) c.6577+17_6577+21delinsCAGAG (n.6577+17_6577+21delinsCAGAG) c.6459_6463delinsCAGAG (p.Asp2153=) c.6054_6058delinsCAGAG (p.Asp2018=) c.5412_5416delinsCAGAG (p.Asp1804=) c.2922_2926delinsCAGAG (p.Asp974=) n.6837_6841delinsCAGAG | |
| 10 | g.71793328A= | CA1918874265 | CDH23 | c.6400A= (p.Arg2134=) c.6415A= (p.Arg2139=) c.6595A= (p.Arg2199=) c.6529A= (p.Arg2177=) c.6592A= (p.Arg2198=) c.6589A= (p.Arg2197=) c.6535A= (p.Arg2179=) c.6577+18A= (n.6577+18A=) c.6460A= (p.Arg2154=) c.6055A= (p.Arg2019=) c.5413A= (p.Arg1805=) c.2923A= (p.Arg975=) n.6838A= | |
| 10 | g.71793328A>G | CA5546071 | CDH23 | c.6400A>G (p.Arg2134Gly) c.6415A>G (p.Arg2139Gly) c.6595A>G (p.Arg2199Gly) c.6529A>G (p.Arg2177Gly) c.6592A>G (p.Arg2198Gly) c.6589A>G (p.Arg2197Gly) c.6535A>G (p.Arg2179Gly) c.6577+18A>G (n.6577+18A>G) c.6460A>G (p.Arg2154Gly) c.6055A>G (p.Arg2019Gly) c.5413A>G (p.Arg1805Gly) c.2923A>G (p.Arg975Gly) n.6838A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793328A>T | CA377154789 | CDH23 | c.6400A>T (p.Arg2134Ter) c.6415A>T (p.Arg2139Ter) c.6595A>T (p.Arg2199Ter) c.6529A>T (p.Arg2177Ter) c.6592A>T (p.Arg2198Ter) c.6589A>T (p.Arg2197Ter) c.6535A>T (p.Arg2179Ter) c.6577+18A>T (n.6577+18A>T) c.6460A>T (p.Arg2154Ter) c.6055A>T (p.Arg2019Ter) c.5413A>T (p.Arg1805Ter) c.2923A>T (p.Arg975Ter) n.6838A>T | dbSNP |
| 10 | g.71793332_71793333del | CA2609580497 | CDH23 | c.6404_6405del (p.Glu2135GlyfsTer?) c.6419_6420del (p.Glu2140GlyfsTer?) c.6599_6600del (p.Glu2200GlyfsTer?) c.6533_6534del (p.Glu2178GlyfsTer?) c.6596_6597del (p.Glu2199GlyfsTer?) c.6593_6594del (p.Glu2198GlyfsTer?) c.6539_6540del (p.Glu2180GlyfsTer?) c.6577+22_6577+23del (n.6577+22_6577+23del) c.6464_6465del (p.Glu2155GlyfsTer?) c.6059_6060del (p.Glu2020GlyfsTer?) c.5417_5418del (p.Glu1806GlyfsTer?) c.2927_2928del (p.Glu976GlyfsTer?) n.6842_6843del | gnomAD v4 |
| 10 | g.71793330_71793333del | CA10603042 | CDH23 | c.6402_6405del (p.Glu2135SerfsTer7) c.6417_6420del (p.Glu2140SerfsTer7) c.6597_6600del (p.Glu2200SerfsTer7) c.6531_6534del (p.Glu2178SerfsTer7) c.6594_6597del (p.Glu2199SerfsTer7) c.6591_6594del (p.Glu2198SerfsTer7) c.6537_6540del (p.Glu2180SerfsTer7) c.6577+20_6577+23del (n.6577+20_6577+23del) c.6462_6465del (p.Glu2155SerfsTer7) c.6057_6060del (p.Glu2020SerfsTer7) c.5415_5418del (p.Glu1806SerfsTer7) c.2925_2928del (p.Glu976SerfsTer7) n.6840_6843del | ClinVar dbSNP |
| 10 | g.71793329G>A | CA377154796 | CDH23 | c.6401G>A (p.Arg2134Lys) c.6416G>A (p.Arg2139Lys) c.6596G>A (p.Arg2199Lys) c.6530G>A (p.Arg2177Lys) c.6593G>A (p.Arg2198Lys) c.6590G>A (p.Arg2197Lys) c.6536G>A (p.Arg2179Lys) c.6577+19G>A (n.6577+19G>A) c.6461G>A (p.Arg2154Lys) c.6056G>A (p.Arg2019Lys) c.5414G>A (p.Arg1805Lys) c.2924G>A (p.Arg975Lys) n.6839G>A | |
| 10 | g.71793329G>C | CA377154802 | CDH23 | c.6401G>C (p.Arg2134Thr) c.6416G>C (p.Arg2139Thr) c.6596G>C (p.Arg2199Thr) c.6530G>C (p.Arg2177Thr) c.6593G>C (p.Arg2198Thr) c.6590G>C (p.Arg2197Thr) c.6536G>C (p.Arg2179Thr) c.6577+19G>C (n.6577+19G>C) c.6461G>C (p.Arg2154Thr) c.6056G>C (p.Arg2019Thr) c.5414G>C (p.Arg1805Thr) c.2924G>C (p.Arg975Thr) n.6839G>C | |
| 10 | g.71793329G>T | CA377154805 | CDH23 | c.6401G>T (p.Arg2134Ile) c.6416G>T (p.Arg2139Ile) c.6596G>T (p.Arg2199Ile) c.6530G>T (p.Arg2177Ile) c.6593G>T (p.Arg2198Ile) c.6590G>T (p.Arg2197Ile) c.6536G>T (p.Arg2179Ile) c.6577+19G>T (n.6577+19G>T) c.6461G>T (p.Arg2154Ile) c.6056G>T (p.Arg2019Ile) c.5414G>T (p.Arg1805Ile) c.2924G>T (p.Arg975Ile) n.6839G>T | |
| 10 | g.71793330A>C | CA377154809 | CDH23 | c.6402A>C (p.Arg2134Ser) c.6417A>C (p.Arg2139Ser) c.6597A>C (p.Arg2199Ser) c.6531A>C (p.Arg2177Ser) c.6594A>C (p.Arg2198Ser) c.6591A>C (p.Arg2197Ser) c.6537A>C (p.Arg2179Ser) c.6577+20A>C (n.6577+20A>C) c.6462A>C (p.Arg2154Ser) c.6057A>C (p.Arg2019Ser) c.5415A>C (p.Arg1805Ser) c.2925A>C (p.Arg975Ser) n.6840A>C | |
| 10 | g.71793330A>T | CA377154813 | CDH23 | c.6402A>T (p.Arg2134Ser) c.6417A>T (p.Arg2139Ser) c.6597A>T (p.Arg2199Ser) c.6531A>T (p.Arg2177Ser) c.6594A>T (p.Arg2198Ser) c.6591A>T (p.Arg2197Ser) c.6537A>T (p.Arg2179Ser) c.6577+20A>T (n.6577+20A>T) c.6462A>T (p.Arg2154Ser) c.6057A>T (p.Arg2019Ser) c.5415A>T (p.Arg1805Ser) c.2925A>T (p.Arg975Ser) n.6840A>T | |
| 10 | g.71793331G>A | CA377154817 | CDH23 | c.6403G>A (p.Glu2135Lys) c.6418G>A (p.Glu2140Lys) c.6598G>A (p.Glu2200Lys) c.6532G>A (p.Glu2178Lys) c.6595G>A (p.Glu2199Lys) c.6592G>A (p.Glu2198Lys) c.6538G>A (p.Glu2180Lys) c.6577+21G>A (n.6577+21G>A) c.6463G>A (p.Glu2155Lys) c.6058G>A (p.Glu2020Lys) c.5416G>A (p.Glu1806Lys) c.2926G>A (p.Glu976Lys) n.6841G>A | |
| 10 | g.71793331G>C | CA377154819 | CDH23 | c.6403G>C (p.Glu2135Gln) c.6418G>C (p.Glu2140Gln) c.6598G>C (p.Glu2200Gln) c.6532G>C (p.Glu2178Gln) c.6595G>C (p.Glu2199Gln) c.6592G>C (p.Glu2198Gln) c.6538G>C (p.Glu2180Gln) c.6577+21G>C (n.6577+21G>C) c.6463G>C (p.Glu2155Gln) c.6058G>C (p.Glu2020Gln) c.5416G>C (p.Glu1806Gln) c.2926G>C (p.Glu976Gln) n.6841G>C | COSMIC |
| 10 | g.71793331G>T | CA377154827 | CDH23 | c.6403G>T (p.Glu2135Ter) c.6418G>T (p.Glu2140Ter) c.6598G>T (p.Glu2200Ter) c.6532G>T (p.Glu2178Ter) c.6595G>T (p.Glu2199Ter) c.6592G>T (p.Glu2198Ter) c.6538G>T (p.Glu2180Ter) c.6577+21G>T (n.6577+21G>T) c.6463G>T (p.Glu2155Ter) c.6058G>T (p.Glu2020Ter) c.5416G>T (p.Glu1806Ter) c.2926G>T (p.Glu976Ter) n.6841G>T | |
| 10 | g.71793332A= | CA1918874267 | CDH23 | c.6404A= (p.Glu2135=) c.6419A= (p.Glu2140=) c.6599A= (p.Glu2200=) c.6533A= (p.Glu2178=) c.6596A= (p.Glu2199=) c.6593A= (p.Glu2198=) c.6539A= (p.Glu2180=) c.6577+22A= (n.6577+22A=) c.6464A= (p.Glu2155=) c.6059A= (p.Glu2020=) c.5417A= (p.Glu1806=) c.2927A= (p.Glu976=) n.6842A= | |
| 10 | g.71793332A>C | CA377154835 | CDH23 | c.6404A>C (p.Glu2135Ala) c.6419A>C (p.Glu2140Ala) c.6599A>C (p.Glu2200Ala) c.6533A>C (p.Glu2178Ala) c.6596A>C (p.Glu2199Ala) c.6593A>C (p.Glu2198Ala) c.6539A>C (p.Glu2180Ala) c.6577+22A>C (n.6577+22A>C) c.6464A>C (p.Glu2155Ala) c.6059A>C (p.Glu2020Ala) c.5417A>C (p.Glu1806Ala) c.2927A>C (p.Glu976Ala) n.6842A>C | |
| 10 | g.71793332A>G | CA377154832 | CDH23 | c.6404A>G (p.Glu2135Gly) c.6419A>G (p.Glu2140Gly) c.6599A>G (p.Glu2200Gly) c.6533A>G (p.Glu2178Gly) c.6596A>G (p.Glu2199Gly) c.6593A>G (p.Glu2198Gly) c.6539A>G (p.Glu2180Gly) c.6577+22A>G (n.6577+22A>G) c.6464A>G (p.Glu2155Gly) c.6059A>G (p.Glu2020Gly) c.5417A>G (p.Glu1806Gly) c.2927A>G (p.Glu976Gly) n.6842A>G | dbSNP |
| 10 | g.71793332A>T | CA377154830 | CDH23 | c.6404A>T (p.Glu2135Val) c.6419A>T (p.Glu2140Val) c.6599A>T (p.Glu2200Val) c.6533A>T (p.Glu2178Val) c.6596A>T (p.Glu2199Val) c.6593A>T (p.Glu2198Val) c.6539A>T (p.Glu2180Val) c.6577+22A>T (n.6577+22A>T) c.6464A>T (p.Glu2155Val) c.6059A>T (p.Glu2020Val) c.5417A>T (p.Glu1806Val) c.2927A>T (p.Glu976Val) n.6842A>T | |
| 10 | g.71793333G>A | CA1918874269 | CDH23 | c.6405G>A (p.Glu2135=) c.6420G>A (p.Glu2140=) c.6600G>A (p.Glu2200=) c.6534G>A (p.Glu2178=) c.6597G>A (p.Glu2199=) c.6594G>A (p.Glu2198=) c.6540G>A (p.Glu2180=) c.6577+23G>A (n.6577+23G>A) c.6465G>A (p.Glu2155=) c.6060G>A (p.Glu2020=) c.5418G>A (p.Glu1806=) c.2928G>A (p.Glu976=) n.6843G>A | ClinVar dbSNP gnomAD v4 |