UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71799554T>A | CA470282101 | CDH23 | c.7287T>A (p.Ala2429=) c.1220T>A (n.1220T>A) c.884T>A (n.884T>A) c.7302T>A (p.Ala2434=) c.567T>A (p.Ala189=) n.823T>A c.7482T>A (p.Ala2494=) c.7416T>A (p.Ala2472=) c.7479T>A (p.Ala2493=) c.7476T>A (p.Ala2492=) c.7422T>A (p.Ala2474=) c.7392T>A (p.Ala2464=) c.7347T>A (p.Ala2449=) c.6942T>A (p.Ala2314=) c.6300T>A (p.Ala2100=) c.3810T>A (p.Ala1270=) | |
| 10 | g.71799554T>C | CA470282102 | CDH23 | c.7287T>C (p.Ala2429=) c.1220T>C (n.1220T>C) c.884T>C (n.884T>C) c.7302T>C (p.Ala2434=) c.567T>C (p.Ala189=) n.823T>C c.7482T>C (p.Ala2494=) c.7416T>C (p.Ala2472=) c.7479T>C (p.Ala2493=) c.7476T>C (p.Ala2492=) c.7422T>C (p.Ala2474=) c.7392T>C (p.Ala2464=) c.7347T>C (p.Ala2449=) c.6942T>C (p.Ala2314=) c.6300T>C (p.Ala2100=) c.3810T>C (p.Ala1270=) | |
| 10 | g.71799554T>G | CA470282103 | CDH23 | c.7287T>G (p.Ala2429=) c.1220T>G (n.1220T>G) c.884T>G (n.884T>G) c.7302T>G (p.Ala2434=) c.567T>G (p.Ala189=) n.823T>G c.7482T>G (p.Ala2494=) c.7416T>G (p.Ala2472=) c.7479T>G (p.Ala2493=) c.7476T>G (p.Ala2492=) c.7422T>G (p.Ala2474=) c.7392T>G (p.Ala2464=) c.7347T>G (p.Ala2449=) c.6942T>G (p.Ala2314=) c.6300T>G (p.Ala2100=) c.3810T>G (p.Ala1270=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71799554T= | CA1918878925 | CDH23 | c.7287T= (p.Ala2429=) c.1220T= (n.1220T=) c.884T= (n.884T=) c.7302T= (p.Ala2434=) c.567T= (p.Ala189=) n.823T= c.7482T= (p.Ala2494=) c.7416T= (p.Ala2472=) c.7479T= (p.Ala2493=) c.7476T= (p.Ala2492=) c.7422T= (p.Ala2474=) c.7392T= (p.Ala2464=) c.7347T= (p.Ala2449=) c.6942T= (p.Ala2314=) c.6300T= (p.Ala2100=) c.3810T= (p.Ala1270=) | |
| 10 | g.71799555G>A | CA377159369 | CDH23 | c.7288G>A (p.Asp2430Asn) c.1221G>A (n.1221G>A) c.885G>A (n.885G>A) c.7303G>A (p.Asp2435Asn) c.568G>A (p.Asp190Asn) n.824G>A c.7483G>A (p.Asp2495Asn) c.7417G>A (p.Asp2473Asn) c.7480G>A (p.Asp2494Asn) c.7477G>A (p.Asp2493Asn) c.7423G>A (p.Asp2475Asn) c.7393G>A (p.Asp2465Asn) c.7348G>A (p.Asp2450Asn) c.6943G>A (p.Asp2315Asn) c.6301G>A (p.Asp2101Asn) c.3811G>A (p.Asp1271Asn) | ClinVar dbSNP COSMIC |
| 10 | g.71799555G>C | CA377159373 | CDH23 | c.7288G>C (p.Asp2430His) c.1221G>C (n.1221G>C) c.885G>C (n.885G>C) c.7303G>C (p.Asp2435His) c.568G>C (p.Asp190His) n.824G>C c.7483G>C (p.Asp2495His) c.7417G>C (p.Asp2473His) c.7480G>C (p.Asp2494His) c.7477G>C (p.Asp2493His) c.7423G>C (p.Asp2475His) c.7393G>C (p.Asp2465His) c.7348G>C (p.Asp2450His) c.6943G>C (p.Asp2315His) c.6301G>C (p.Asp2101His) c.3811G>C (p.Asp1271His) | |
| 10 | g.71799555G>T | CA377159371 | CDH23 | c.7288G>T (p.Asp2430Tyr) c.1221G>T (n.1221G>T) c.885G>T (n.885G>T) c.7303G>T (p.Asp2435Tyr) c.568G>T (p.Asp190Tyr) n.824G>T c.7483G>T (p.Asp2495Tyr) c.7417G>T (p.Asp2473Tyr) c.7480G>T (p.Asp2494Tyr) c.7477G>T (p.Asp2493Tyr) c.7423G>T (p.Asp2475Tyr) c.7393G>T (p.Asp2465Tyr) c.7348G>T (p.Asp2450Tyr) c.6943G>T (p.Asp2315Tyr) c.6301G>T (p.Asp2101Tyr) c.3811G>T (p.Asp1271Tyr) | |
| 10 | g.71799556A= | CA1918878926 | CDH23 | c.7289A= (p.Asp2430=) c.1222A= (n.1222A=) c.886A= (n.886A=) c.7304A= (p.Asp2435=) c.569A= (p.Asp190=) n.825A= c.7484A= (p.Asp2495=) c.7418A= (p.Asp2473=) c.7481A= (p.Asp2494=) c.7478A= (p.Asp2493=) c.7424A= (p.Asp2475=) c.7394A= (p.Asp2465=) c.7349A= (p.Asp2450=) c.6944A= (p.Asp2315=) c.6302A= (p.Asp2101=) c.3812A= (p.Asp1271=) | |
| 10 | g.71799556A>C | CA5546300 | CDH23 | c.7289A>C (p.Asp2430Ala) c.1222A>C (n.1222A>C) c.886A>C (n.886A>C) c.7304A>C (p.Asp2435Ala) c.569A>C (p.Asp190Ala) n.825A>C c.7484A>C (p.Asp2495Ala) c.7418A>C (p.Asp2473Ala) c.7481A>C (p.Asp2494Ala) c.7478A>C (p.Asp2493Ala) c.7424A>C (p.Asp2475Ala) c.7394A>C (p.Asp2465Ala) c.7349A>C (p.Asp2450Ala) c.6944A>C (p.Asp2315Ala) c.6302A>C (p.Asp2101Ala) c.3812A>C (p.Asp1271Ala) | dbSNP ExAC gnomAD v2 |
| 10 | g.71799556A>G | CA377159375 | CDH23 | c.7289A>G (p.Asp2430Gly) c.1222A>G (n.1222A>G) c.886A>G (n.886A>G) c.7304A>G (p.Asp2435Gly) c.569A>G (p.Asp190Gly) n.825A>G c.7484A>G (p.Asp2495Gly) c.7418A>G (p.Asp2473Gly) c.7481A>G (p.Asp2494Gly) c.7478A>G (p.Asp2493Gly) c.7424A>G (p.Asp2475Gly) c.7394A>G (p.Asp2465Gly) c.7349A>G (p.Asp2450Gly) c.6944A>G (p.Asp2315Gly) c.6302A>G (p.Asp2101Gly) c.3812A>G (p.Asp1271Gly) | |
| 10 | g.71799556A>T | CA377159376 | CDH23 | c.7289A>T (p.Asp2430Val) c.1222A>T (n.1222A>T) c.886A>T (n.886A>T) c.7304A>T (p.Asp2435Val) c.569A>T (p.Asp190Val) n.825A>T c.7484A>T (p.Asp2495Val) c.7418A>T (p.Asp2473Val) c.7481A>T (p.Asp2494Val) c.7478A>T (p.Asp2493Val) c.7424A>T (p.Asp2475Val) c.7394A>T (p.Asp2465Val) c.7349A>T (p.Asp2450Val) c.6944A>T (p.Asp2315Val) c.6302A>T (p.Asp2101Val) c.3812A>T (p.Asp1271Val) | |
| 10 | g.71799557C>A | CA377159377 | CDH23 | c.7290C>A (p.Asp2430Glu) c.1223C>A (n.1223C>A) c.887C>A (n.887C>A) c.7305C>A (p.Asp2435Glu) c.570C>A (p.Asp190Glu) n.826C>A c.7485C>A (p.Asp2495Glu) c.7419C>A (p.Asp2473Glu) c.7482C>A (p.Asp2494Glu) c.7479C>A (p.Asp2493Glu) c.7425C>A (p.Asp2475Glu) c.7395C>A (p.Asp2465Glu) c.7350C>A (p.Asp2450Glu) c.6945C>A (p.Asp2315Glu) c.6303C>A (p.Asp2101Glu) c.3813C>A (p.Asp1271Glu) | |
| 10 | g.71799557C>G | CA377159378 | CDH23 | c.7290C>G (p.Asp2430Glu) c.1223C>G (n.1223C>G) c.887C>G (n.887C>G) c.7305C>G (p.Asp2435Glu) c.570C>G (p.Asp190Glu) n.826C>G c.7485C>G (p.Asp2495Glu) c.7419C>G (p.Asp2473Glu) c.7482C>G (p.Asp2494Glu) c.7479C>G (p.Asp2493Glu) c.7425C>G (p.Asp2475Glu) c.7395C>G (p.Asp2465Glu) c.7350C>G (p.Asp2450Glu) c.6945C>G (p.Asp2315Glu) c.6303C>G (p.Asp2101Glu) c.3813C>G (p.Asp1271Glu) | |
| 10 | g.71799557C>T | CA470282107 | CDH23 | c.7290C>T (p.Asp2430=) c.1223C>T (n.1223C>T) c.887C>T (n.887C>T) c.7305C>T (p.Asp2435=) c.570C>T (p.Asp190=) n.826C>T c.7485C>T (p.Asp2495=) c.7419C>T (p.Asp2473=) c.7482C>T (p.Asp2494=) c.7479C>T (p.Asp2493=) c.7425C>T (p.Asp2475=) c.7395C>T (p.Asp2465=) c.7350C>T (p.Asp2450=) c.6945C>T (p.Asp2315=) c.6303C>T (p.Asp2101=) c.3813C>T (p.Asp1271=) | |
| 10 | g.71799558T>A | CA377159387 | CDH23 | c.7291T>A (p.Ser2431Thr) c.1224T>A (n.1224T>A) c.888T>A (n.888T>A) c.7306T>A (p.Ser2436Thr) c.571T>A (p.Ser191Thr) n.827T>A c.7486T>A (p.Ser2496Thr) c.7420T>A (p.Ser2474Thr) c.7483T>A (p.Ser2495Thr) c.7480T>A (p.Ser2494Thr) c.7426T>A (p.Ser2476Thr) c.7396T>A (p.Ser2466Thr) c.7351T>A (p.Ser2451Thr) c.6946T>A (p.Ser2316Thr) c.6304T>A (p.Ser2102Thr) c.3814T>A (p.Ser1272Thr) | |
| 10 | g.71799558T>C | CA377159388 | CDH23 | c.7291T>C (p.Ser2431Pro) c.1224T>C (n.1224T>C) c.888T>C (n.888T>C) c.7306T>C (p.Ser2436Pro) c.571T>C (p.Ser191Pro) n.827T>C c.7486T>C (p.Ser2496Pro) c.7420T>C (p.Ser2474Pro) c.7483T>C (p.Ser2495Pro) c.7480T>C (p.Ser2494Pro) c.7426T>C (p.Ser2476Pro) c.7396T>C (p.Ser2466Pro) c.7351T>C (p.Ser2451Pro) c.6946T>C (p.Ser2316Pro) c.6304T>C (p.Ser2102Pro) c.3814T>C (p.Ser1272Pro) | |
| 10 | g.71799558T>G | CA377159381 | CDH23 | c.7291T>G (p.Ser2431Ala) c.1224T>G (n.1224T>G) c.888T>G (n.888T>G) c.7306T>G (p.Ser2436Ala) c.571T>G (p.Ser191Ala) n.827T>G c.7486T>G (p.Ser2496Ala) c.7420T>G (p.Ser2474Ala) c.7483T>G (p.Ser2495Ala) c.7480T>G (p.Ser2494Ala) c.7426T>G (p.Ser2476Ala) c.7396T>G (p.Ser2466Ala) c.7351T>G (p.Ser2451Ala) c.6946T>G (p.Ser2316Ala) c.6304T>G (p.Ser2102Ala) c.3814T>G (p.Ser1272Ala) | gnomAD v4 |
| 10 | g.71799559del | CA2609589903 | CDH23 | c.7292del (p.Ser2431Ter) c.1225del (n.1225del) c.889del (n.889del) c.7307del (p.Ser2436Ter) c.572del (p.Ser191Ter) n.828del c.7487del (p.Ser2496Ter) c.7421del (p.Ser2474Ter) c.7484del (p.Ser2495Ter) c.7481del (p.Ser2494Ter) c.7427del (p.Ser2476Ter) c.7397del (p.Ser2466Ter) c.7352del (p.Ser2451Ter) c.6947del (p.Ser2316Ter) c.6305del (p.Ser2102Ter) c.3815del (p.Ser1272Ter) | gnomAD v4 |
| 10 | g.71799559C>A | CA377159391 | CDH23 | c.7292C>A (p.Ser2431Ter) c.1225C>A (n.1225C>A) c.889C>A (n.889C>A) c.7307C>A (p.Ser2436Ter) c.572C>A (p.Ser191Ter) n.828C>A c.7487C>A (p.Ser2496Ter) c.7421C>A (p.Ser2474Ter) c.7484C>A (p.Ser2495Ter) c.7481C>A (p.Ser2494Ter) c.7427C>A (p.Ser2476Ter) c.7397C>A (p.Ser2466Ter) c.7352C>A (p.Ser2451Ter) c.6947C>A (p.Ser2316Ter) c.6305C>A (p.Ser2102Ter) c.3815C>A (p.Ser1272Ter) | |
| 10 | g.71799559C>G | CA377159390 | CDH23 | c.7292C>G (p.Ser2431Ter) c.1225C>G (n.1225C>G) c.889C>G (n.889C>G) c.7307C>G (p.Ser2436Ter) c.572C>G (p.Ser191Ter) n.828C>G c.7487C>G (p.Ser2496Ter) c.7421C>G (p.Ser2474Ter) c.7484C>G (p.Ser2495Ter) c.7481C>G (p.Ser2494Ter) c.7427C>G (p.Ser2476Ter) c.7397C>G (p.Ser2466Ter) c.7352C>G (p.Ser2451Ter) c.6947C>G (p.Ser2316Ter) c.6305C>G (p.Ser2102Ter) c.3815C>G (p.Ser1272Ter) | |
| 10 | g.71799559C>T | CA377159392 | CDH23 | c.7292C>T (p.Ser2431Leu) c.1225C>T (n.1225C>T) c.889C>T (n.889C>T) c.7307C>T (p.Ser2436Leu) c.572C>T (p.Ser191Leu) n.828C>T c.7487C>T (p.Ser2496Leu) c.7421C>T (p.Ser2474Leu) c.7484C>T (p.Ser2495Leu) c.7481C>T (p.Ser2494Leu) c.7427C>T (p.Ser2476Leu) c.7397C>T (p.Ser2466Leu) c.7352C>T (p.Ser2451Leu) c.6947C>T (p.Ser2316Leu) c.6305C>T (p.Ser2102Leu) c.3815C>T (p.Ser1272Leu) | |
| 10 | g.71799560A= | CA1918878927 | CDH23 | c.7293A= (p.Ser2431=) c.1226A= (n.1226A=) c.890A= (n.890A=) c.7308A= (p.Ser2436=) c.573A= (p.Ser191=) n.829A= c.7488A= (p.Ser2496=) c.7422A= (p.Ser2474=) c.7485A= (p.Ser2495=) c.7482A= (p.Ser2494=) c.7428A= (p.Ser2476=) c.7398A= (p.Ser2466=) c.7353A= (p.Ser2451=) c.6948A= (p.Ser2316=) c.6306A= (p.Ser2102=) c.3816A= (p.Ser1272=) | |
| 10 | g.71799560A>C | CA470282110 | CDH23 | c.7293A>C (p.Ser2431=) c.1226A>C (n.1226A>C) c.890A>C (n.890A>C) c.7308A>C (p.Ser2436=) c.573A>C (p.Ser191=) n.829A>C c.7488A>C (p.Ser2496=) c.7422A>C (p.Ser2474=) c.7485A>C (p.Ser2495=) c.7482A>C (p.Ser2494=) c.7428A>C (p.Ser2476=) c.7398A>C (p.Ser2466=) c.7353A>C (p.Ser2451=) c.6948A>C (p.Ser2316=) c.6306A>C (p.Ser2102=) c.3816A>C (p.Ser1272=) | ClinVar dbSNP |
| 10 | g.71799560A>G | CA5546301 | CDH23 | c.7293A>G (p.Ser2431=) c.1226A>G (n.1226A>G) c.890A>G (n.890A>G) c.7308A>G (p.Ser2436=) c.573A>G (p.Ser191=) n.829A>G c.7488A>G (p.Ser2496=) c.7422A>G (p.Ser2474=) c.7485A>G (p.Ser2495=) c.7482A>G (p.Ser2494=) c.7428A>G (p.Ser2476=) c.7398A>G (p.Ser2466=) c.7353A>G (p.Ser2451=) c.6948A>G (p.Ser2316=) c.6306A>G (p.Ser2102=) c.3816A>G (p.Ser1272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71799560A>T | CA470282109 | CDH23 | c.7293A>T (p.Ser2431=) c.1226A>T (n.1226A>T) c.890A>T (n.890A>T) c.7308A>T (p.Ser2436=) c.573A>T (p.Ser191=) n.829A>T c.7488A>T (p.Ser2496=) c.7422A>T (p.Ser2474=) c.7485A>T (p.Ser2495=) c.7482A>T (p.Ser2494=) c.7428A>T (p.Ser2476=) c.7398A>T (p.Ser2466=) c.7353A>T (p.Ser2451=) c.6948A>T (p.Ser2316=) c.6306A>T (p.Ser2102=) c.3816A>T (p.Ser1272=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.71799561G>A | CA377159401 | CDH23 | c.7294G>A (p.Gly2432Ser) c.1227G>A (n.1227G>A) c.891G>A (n.891G>A) c.7309G>A (p.Gly2437Ser) c.574G>A (p.Gly192Ser) n.830G>A c.7489G>A (p.Gly2497Ser) c.7423G>A (p.Gly2475Ser) c.7486G>A (p.Gly2496Ser) c.7483G>A (p.Gly2495Ser) c.7429G>A (p.Gly2477Ser) c.7399G>A (p.Gly2467Ser) c.7354G>A (p.Gly2452Ser) c.6949G>A (p.Gly2317Ser) c.6307G>A (p.Gly2103Ser) c.3817G>A (p.Gly1273Ser) | |
| 10 | g.71799561G>C | CA377159395 | CDH23 | c.7294G>C (p.Gly2432Arg) c.1227G>C (n.1227G>C) c.891G>C (n.891G>C) c.7309G>C (p.Gly2437Arg) c.574G>C (p.Gly192Arg) n.830G>C c.7489G>C (p.Gly2497Arg) c.7423G>C (p.Gly2475Arg) c.7486G>C (p.Gly2496Arg) c.7483G>C (p.Gly2495Arg) c.7429G>C (p.Gly2477Arg) c.7399G>C (p.Gly2467Arg) c.7354G>C (p.Gly2452Arg) c.6949G>C (p.Gly2317Arg) c.6307G>C (p.Gly2103Arg) c.3817G>C (p.Gly1273Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71799561G= | CA1918878928 | CDH23 | c.7294G= (p.Gly2432=) c.1227G= (n.1227G=) c.891G= (n.891G=) c.7309G= (p.Gly2437=) c.574G= (p.Gly192=) n.830G= c.7489G= (p.Gly2497=) c.7423G= (p.Gly2475=) c.7486G= (p.Gly2496=) c.7483G= (p.Gly2495=) c.7429G= (p.Gly2477=) c.7399G= (p.Gly2467=) c.7354G= (p.Gly2452=) c.6949G= (p.Gly2317=) c.6307G= (p.Gly2103=) c.3817G= (p.Gly1273=) | |
| 10 | g.71799561G>T | CA377159400 | CDH23 | c.7294G>T (p.Gly2432Cys) c.1227G>T (n.1227G>T) c.891G>T (n.891G>T) c.7309G>T (p.Gly2437Cys) c.574G>T (p.Gly192Cys) n.830G>T c.7489G>T (p.Gly2497Cys) c.7423G>T (p.Gly2475Cys) c.7486G>T (p.Gly2496Cys) c.7483G>T (p.Gly2495Cys) c.7429G>T (p.Gly2477Cys) c.7399G>T (p.Gly2467Cys) c.7354G>T (p.Gly2452Cys) c.6949G>T (p.Gly2317Cys) c.6307G>T (p.Gly2103Cys) c.3817G>T (p.Gly1273Cys) | |
| 10 | g.71799562G>A | CA5546302 | CDH23 | c.7295G>A (p.Gly2432Asp) c.1228G>A (n.1228G>A) c.892G>A (n.892G>A) c.7310G>A (p.Gly2437Asp) c.575G>A (p.Gly192Asp) n.831G>A c.7490G>A (p.Gly2497Asp) c.7424G>A (p.Gly2475Asp) c.7487G>A (p.Gly2496Asp) c.7484G>A (p.Gly2495Asp) c.7430G>A (p.Gly2477Asp) c.7400G>A (p.Gly2467Asp) c.7355G>A (p.Gly2452Asp) c.6950G>A (p.Gly2317Asp) c.6308G>A (p.Gly2103Asp) c.3818G>A (p.Gly1273Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71799562G>C | CA377159402 | CDH23 | c.7295G>C (p.Gly2432Ala) c.1228G>C (n.1228G>C) c.892G>C (n.892G>C) c.7310G>C (p.Gly2437Ala) c.575G>C (p.Gly192Ala) n.831G>C c.7490G>C (p.Gly2497Ala) c.7424G>C (p.Gly2475Ala) c.7487G>C (p.Gly2496Ala) c.7484G>C (p.Gly2495Ala) c.7430G>C (p.Gly2477Ala) c.7400G>C (p.Gly2467Ala) c.7355G>C (p.Gly2452Ala) c.6950G>C (p.Gly2317Ala) c.6308G>C (p.Gly2103Ala) c.3818G>C (p.Gly1273Ala) | |
| 10 | g.71799562G= | CA1918878929 | CDH23 | c.7295G= (p.Gly2432=) c.1228G= (n.1228G=) c.892G= (n.892G=) c.7310G= (p.Gly2437=) c.575G= (p.Gly192=) n.831G= c.7490G= (p.Gly2497=) c.7424G= (p.Gly2475=) c.7487G= (p.Gly2496=) c.7484G= (p.Gly2495=) c.7430G= (p.Gly2477=) c.7400G= (p.Gly2467=) c.7355G= (p.Gly2452=) c.6950G= (p.Gly2317=) c.6308G= (p.Gly2103=) c.3818G= (p.Gly1273=) | |
| 10 | g.71799562G>T | CA377159403 | CDH23 | c.7295G>T (p.Gly2432Val) c.1228G>T (n.1228G>T) c.892G>T (n.892G>T) c.7310G>T (p.Gly2437Val) c.575G>T (p.Gly192Val) n.831G>T c.7490G>T (p.Gly2497Val) c.7424G>T (p.Gly2475Val) c.7487G>T (p.Gly2496Val) c.7484G>T (p.Gly2495Val) c.7430G>T (p.Gly2477Val) c.7400G>T (p.Gly2467Val) c.7355G>T (p.Gly2452Val) c.6950G>T (p.Gly2317Val) c.6308G>T (p.Gly2103Val) c.3818G>T (p.Gly1273Val) | |
| 10 | g.71799563C>A | CA470282114 | CDH23 | c.7296C>A (p.Gly2432=) c.1229C>A (n.1229C>A) c.893C>A (n.893C>A) c.7311C>A (p.Gly2437=) c.576C>A (p.Gly192=) n.832C>A c.7491C>A (p.Gly2497=) c.7425C>A (p.Gly2475=) c.7488C>A (p.Gly2496=) c.7485C>A (p.Gly2495=) c.7431C>A (p.Gly2477=) c.7401C>A (p.Gly2467=) c.7356C>A (p.Gly2452=) c.6951C>A (p.Gly2317=) c.6309C>A (p.Gly2103=) c.3819C>A (p.Gly1273=) | |
| 10 | g.71799563C>G | CA470282112 | CDH23 | c.7296C>G (p.Gly2432=) c.1229C>G (n.1229C>G) c.893C>G (n.893C>G) c.7311C>G (p.Gly2437=) c.576C>G (p.Gly192=) n.832C>G c.7491C>G (p.Gly2497=) c.7425C>G (p.Gly2475=) c.7488C>G (p.Gly2496=) c.7485C>G (p.Gly2495=) c.7431C>G (p.Gly2477=) c.7401C>G (p.Gly2467=) c.7356C>G (p.Gly2452=) c.6951C>G (p.Gly2317=) c.6309C>G (p.Gly2103=) c.3819C>G (p.Gly1273=) | |
| 10 | g.71799563C>T | CA470282113 | CDH23 | c.7296C>T (p.Gly2432=) c.1229C>T (n.1229C>T) c.893C>T (n.893C>T) c.7311C>T (p.Gly2437=) c.576C>T (p.Gly192=) n.832C>T c.7491C>T (p.Gly2497=) c.7425C>T (p.Gly2475=) c.7488C>T (p.Gly2496=) c.7485C>T (p.Gly2495=) c.7431C>T (p.Gly2477=) c.7401C>T (p.Gly2467=) c.7356C>T (p.Gly2452=) c.6951C>T (p.Gly2317=) c.6309C>T (p.Gly2103=) c.3819C>T (p.Gly1273=) | |
| 10 | g.71799564A>C | CA377159406 | CDH23 | c.7297A>C (p.Asn2433His) c.1230A>C (n.1230A>C) c.894A>C (n.894A>C) c.7312A>C (p.Asn2438His) c.577A>C (p.Asn193His) n.833A>C c.7492A>C (p.Asn2498His) c.7426A>C (p.Asn2476His) c.7489A>C (p.Asn2497His) c.7486A>C (p.Asn2496His) c.7432A>C (p.Asn2478His) c.7402A>C (p.Asn2468His) c.7357A>C (p.Asn2453His) c.6952A>C (p.Asn2318His) c.6310A>C (p.Asn2104His) c.3820A>C (p.Asn1274His) | |
| 10 | g.71799564A>G | CA377159407 | CDH23 | c.7297A>G (p.Asn2433Asp) c.1230A>G (n.1230A>G) c.894A>G (n.894A>G) c.7312A>G (p.Asn2438Asp) c.577A>G (p.Asn193Asp) n.833A>G c.7492A>G (p.Asn2498Asp) c.7426A>G (p.Asn2476Asp) c.7489A>G (p.Asn2497Asp) c.7486A>G (p.Asn2496Asp) c.7432A>G (p.Asn2478Asp) c.7402A>G (p.Asn2468Asp) c.7357A>G (p.Asn2453Asp) c.6952A>G (p.Asn2318Asp) c.6310A>G (p.Asn2104Asp) c.3820A>G (p.Asn1274Asp) | |
| 10 | g.71799564A>T | CA377159408 | CDH23 | c.7297A>T (p.Asn2433Tyr) c.1230A>T (n.1230A>T) c.894A>T (n.894A>T) c.7312A>T (p.Asn2438Tyr) c.577A>T (p.Asn193Tyr) n.833A>T c.7492A>T (p.Asn2498Tyr) c.7426A>T (p.Asn2476Tyr) c.7489A>T (p.Asn2497Tyr) c.7486A>T (p.Asn2496Tyr) c.7432A>T (p.Asn2478Tyr) c.7402A>T (p.Asn2468Tyr) c.7357A>T (p.Asn2453Tyr) c.6952A>T (p.Asn2318Tyr) c.6310A>T (p.Asn2104Tyr) c.3820A>T (p.Asn1274Tyr) | |
| 10 | g.71799565A>C | CA377159409 | CDH23 | c.7298A>C (p.Asn2433Thr) c.1231A>C (n.1231A>C) c.895A>C (n.895A>C) c.7313A>C (p.Asn2438Thr) c.578A>C (p.Asn193Thr) n.834A>C c.7493A>C (p.Asn2498Thr) c.7427A>C (p.Asn2476Thr) c.7490A>C (p.Asn2497Thr) c.7487A>C (p.Asn2496Thr) c.7433A>C (p.Asn2478Thr) c.7403A>C (p.Asn2468Thr) c.7358A>C (p.Asn2453Thr) c.6953A>C (p.Asn2318Thr) c.6311A>C (p.Asn2104Thr) c.3821A>C (p.Asn1274Thr) | |
| 10 | g.71799565A>G | CA377159414 | CDH23 | c.7298A>G (p.Asn2433Ser) c.1231A>G (n.1231A>G) c.895A>G (n.895A>G) c.7313A>G (p.Asn2438Ser) c.578A>G (p.Asn193Ser) n.834A>G c.7493A>G (p.Asn2498Ser) c.7427A>G (p.Asn2476Ser) c.7490A>G (p.Asn2497Ser) c.7487A>G (p.Asn2496Ser) c.7433A>G (p.Asn2478Ser) c.7403A>G (p.Asn2468Ser) c.7358A>G (p.Asn2453Ser) c.6953A>G (p.Asn2318Ser) c.6311A>G (p.Asn2104Ser) c.3821A>G (p.Asn1274Ser) | |
| 10 | g.71799565A>T | CA377159416 | CDH23 | c.7298A>T (p.Asn2433Ile) c.1231A>T (n.1231A>T) c.895A>T (n.895A>T) c.7313A>T (p.Asn2438Ile) c.578A>T (p.Asn193Ile) n.834A>T c.7493A>T (p.Asn2498Ile) c.7427A>T (p.Asn2476Ile) c.7490A>T (p.Asn2497Ile) c.7487A>T (p.Asn2496Ile) c.7433A>T (p.Asn2478Ile) c.7403A>T (p.Asn2468Ile) c.7358A>T (p.Asn2453Ile) c.6953A>T (p.Asn2318Ile) c.6311A>T (p.Asn2104Ile) c.3821A>T (p.Asn1274Ile) | |
| 10 | g.71799566C>A | CA377159418 | CDH23 | c.7299C>A (p.Asn2433Lys) c.1232C>A (n.1232C>A) c.896C>A (n.896C>A) c.7314C>A (p.Asn2438Lys) c.579C>A (p.Asn193Lys) n.835C>A c.7494C>A (p.Asn2498Lys) c.7428C>A (p.Asn2476Lys) c.7491C>A (p.Asn2497Lys) c.7488C>A (p.Asn2496Lys) c.7434C>A (p.Asn2478Lys) c.7404C>A (p.Asn2468Lys) c.7359C>A (p.Asn2453Lys) c.6954C>A (p.Asn2318Lys) c.6312C>A (p.Asn2104Lys) c.3822C>A (p.Asn1274Lys) | COSMIC |
| 10 | g.71799566C>G | CA377159420 | CDH23 | c.7299C>G (p.Asn2433Lys) c.1232C>G (n.1232C>G) c.896C>G (n.896C>G) c.7314C>G (p.Asn2438Lys) c.579C>G (p.Asn193Lys) n.835C>G c.7494C>G (p.Asn2498Lys) c.7428C>G (p.Asn2476Lys) c.7491C>G (p.Asn2497Lys) c.7488C>G (p.Asn2496Lys) c.7434C>G (p.Asn2478Lys) c.7404C>G (p.Asn2468Lys) c.7359C>G (p.Asn2453Lys) c.6954C>G (p.Asn2318Lys) c.6312C>G (p.Asn2104Lys) c.3822C>G (p.Asn1274Lys) | |
| 10 | g.71799566C>T | CA470282116 | CDH23 | c.7299C>T (p.Asn2433=) c.1232C>T (n.1232C>T) c.896C>T (n.896C>T) c.7314C>T (p.Asn2438=) c.579C>T (p.Asn193=) n.835C>T c.7494C>T (p.Asn2498=) c.7428C>T (p.Asn2476=) c.7491C>T (p.Asn2497=) c.7488C>T (p.Asn2496=) c.7434C>T (p.Asn2478=) c.7404C>T (p.Asn2468=) c.7359C>T (p.Asn2453=) c.6954C>T (p.Asn2318=) c.6312C>T (p.Asn2104=) c.3822C>T (p.Asn1274=) | gnomAD v4 |
| 10 | g.71799567T>A | CA377159426 | CDH23 | c.7300T>A (p.Phe2434Ile) c.1233T>A (n.1233T>A) c.897T>A (n.897T>A) c.7315T>A (p.Phe2439Ile) c.580T>A (p.Phe194Ile) n.836T>A c.7495T>A (p.Phe2499Ile) c.7429T>A (p.Phe2477Ile) c.7492T>A (p.Phe2498Ile) c.7489T>A (p.Phe2497Ile) c.7435T>A (p.Phe2479Ile) c.7405T>A (p.Phe2469Ile) c.7360T>A (p.Phe2454Ile) c.6955T>A (p.Phe2319Ile) c.6313T>A (p.Phe2105Ile) c.3823T>A (p.Phe1275Ile) | |
| 10 | g.71799567T>C | CA377159423 | CDH23 | c.7300T>C (p.Phe2434Leu) c.1233T>C (n.1233T>C) c.897T>C (n.897T>C) c.7315T>C (p.Phe2439Leu) c.580T>C (p.Phe194Leu) n.836T>C c.7495T>C (p.Phe2499Leu) c.7429T>C (p.Phe2477Leu) c.7492T>C (p.Phe2498Leu) c.7489T>C (p.Phe2497Leu) c.7435T>C (p.Phe2479Leu) c.7405T>C (p.Phe2469Leu) c.7360T>C (p.Phe2454Leu) c.6955T>C (p.Phe2319Leu) c.6313T>C (p.Phe2105Leu) c.3823T>C (p.Phe1275Leu) | gnomAD v4 |
| 10 | g.71799567T>G | CA377159422 | CDH23 | c.7300T>G (p.Phe2434Val) c.1233T>G (n.1233T>G) c.897T>G (n.897T>G) c.7315T>G (p.Phe2439Val) c.580T>G (p.Phe194Val) n.836T>G c.7495T>G (p.Phe2499Val) c.7429T>G (p.Phe2477Val) c.7492T>G (p.Phe2498Val) c.7489T>G (p.Phe2497Val) c.7435T>G (p.Phe2479Val) c.7405T>G (p.Phe2469Val) c.7360T>G (p.Phe2454Val) c.6955T>G (p.Phe2319Val) c.6313T>G (p.Phe2105Val) c.3823T>G (p.Phe1275Val) | |
| 10 | g.71799568T>A | CA377159428 | CDH23 | c.7301T>A (p.Phe2434Tyr) c.1234T>A (n.1234T>A) c.898T>A (n.898T>A) c.7316T>A (p.Phe2439Tyr) c.581T>A (p.Phe194Tyr) n.837T>A c.7496T>A (p.Phe2499Tyr) c.7430T>A (p.Phe2477Tyr) c.7493T>A (p.Phe2498Tyr) c.7490T>A (p.Phe2497Tyr) c.7436T>A (p.Phe2479Tyr) c.7406T>A (p.Phe2469Tyr) c.7361T>A (p.Phe2454Tyr) c.6956T>A (p.Phe2319Tyr) c.6314T>A (p.Phe2105Tyr) c.3824T>A (p.Phe1275Tyr) | |
| 10 | g.71799568T>C | CA377159431 | CDH23 | c.7301T>C (p.Phe2434Ser) c.1234T>C (n.1234T>C) c.898T>C (n.898T>C) c.7316T>C (p.Phe2439Ser) c.581T>C (p.Phe194Ser) n.837T>C c.7496T>C (p.Phe2499Ser) c.7430T>C (p.Phe2477Ser) c.7493T>C (p.Phe2498Ser) c.7490T>C (p.Phe2497Ser) c.7436T>C (p.Phe2479Ser) c.7406T>C (p.Phe2469Ser) c.7361T>C (p.Phe2454Ser) c.6956T>C (p.Phe2319Ser) c.6314T>C (p.Phe2105Ser) c.3824T>C (p.Phe1275Ser) |