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 |
|---|---|---|---|---|---|
| 14 | g.91305804_91305824del | CA2626131657 | CCDC88C | c.3300_3320del (p.Gln1100_Glu1106del) c.3192_3212del (p.Gln1064_Glu1070del) n.3428_3448del c.381_401del (p.Gln127_Glu133del) n.3426_3446del | gnomAD v4 |
| 14 | g.91305815_91305820dup | CA7309398 | CCDC88C | c.3302_3307dup (p.Ala1102_Phe1103insCysAla) c.3194_3199dup (p.Ala1066_Phe1067insCysAla) n.3430_3435dup c.383_388dup (p.Ala129_Phe130insCysAla) n.3428_3433dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91305820C>A | CA390623193 | CCDC88C | c.3302G>T (p.Ser1101Ile) c.3194G>T (p.Ser1065Ile) n.3430G>T c.383G>T (p.Ser128Ile) n.3428G>T | |
| 14 | g.91305820C>G | CA390623194 | CCDC88C | c.3302G>C (p.Ser1101Thr) c.3194G>C (p.Ser1065Thr) n.3430G>C c.383G>C (p.Ser128Thr) n.3428G>C | |
| 14 | g.91305820C>T | CA390623195 | CCDC88C | c.3302G>A (p.Ser1101Asn) c.3194G>A (p.Ser1065Asn) n.3430G>A c.383G>A (p.Ser128Asn) n.3428G>A | |
| 14 | g.91305822_91305823del | CA2580613740 | CCDC88C | c.3301_3302del (p.Ser1101ArgfsTer?) c.3193_3194del (p.Ser1065ArgfsTer?) n.3429_3430del c.382_383del (p.Ser128ArgfsTer?) n.3427_3428del | ClinVar |
| 14 | g.91305821T>A | CA390623198 | CCDC88C | c.3301A>T (p.Ser1101Cys) c.3193A>T (p.Ser1065Cys) n.3429A>T c.382A>T (p.Ser128Cys) n.3427A>T | |
| 14 | g.91305821T>C | CA390623196 | CCDC88C | c.3301A>G (p.Ser1101Gly) c.3193A>G (p.Ser1065Gly) n.3429A>G c.382A>G (p.Ser128Gly) n.3427A>G | |
| 14 | g.91305821T>G | CA390623197 | CCDC88C | c.3301A>C (p.Ser1101Arg) c.3193A>C (p.Ser1065Arg) n.3429A>C c.382A>C (p.Ser128Arg) n.3427A>C | |
| 14 | g.91305822C>A | CA390623199 | CCDC88C | c.3300G>T (p.Gln1100His) c.3192G>T (p.Gln1064His) n.3428G>T c.381G>T (p.Gln127His) n.3426G>T | |
| 14 | g.91305822C>G | CA390623200 | CCDC88C | c.3300G>C (p.Gln1100His) c.3192G>C (p.Gln1064His) n.3428G>C c.381G>C (p.Gln127His) n.3426G>C | |
| 14 | g.91305822C>T | CA487549081 | CCDC88C | c.3300G>A (p.Gln1100=) c.3192G>A (p.Gln1064=) n.3428G>A c.381G>A (p.Gln127=) n.3426G>A | |
| 14 | g.91305823T>A | CA390623201 | CCDC88C | c.3299A>T (p.Gln1100Leu) c.3191A>T (p.Gln1064Leu) n.3427A>T c.380A>T (p.Gln127Leu) n.3425A>T | |
| 14 | g.91305823T>C | CA390623202 | CCDC88C | c.3299A>G (p.Gln1100Arg) c.3191A>G (p.Gln1064Arg) n.3427A>G c.380A>G (p.Gln127Arg) n.3425A>G | |
| 14 | g.91305823T>G | CA390623203 | CCDC88C | c.3299A>C (p.Gln1100Pro) c.3191A>C (p.Gln1064Pro) n.3427A>C c.380A>C (p.Gln127Pro) n.3425A>C | |
| 14 | g.91305824G>A | CA390623204 | CCDC88C | c.3298C>T (p.Gln1100Ter) c.3190C>T (p.Gln1064Ter) n.3426C>T c.379C>T (p.Gln127Ter) n.3424C>T | gnomAD v4 |
| 14 | g.91305824G>C | CA390623205 | CCDC88C | c.3298C>G (p.Gln1100Glu) c.3190C>G (p.Gln1064Glu) n.3426C>G c.379C>G (p.Gln127Glu) n.3424C>G | |
| 14 | g.91305824G>T | CA390623206 | CCDC88C | c.3298C>A (p.Gln1100Lys) c.3190C>A (p.Gln1064Lys) n.3426C>A c.379C>A (p.Gln127Lys) n.3424C>A | |
| 14 | g.91305825T>A | CA390623207 | CCDC88C | c.3297A>T (p.Lys1099Asn) c.3189A>T (p.Lys1063Asn) n.3425A>T c.378A>T (p.Lys126Asn) n.3423A>T | |
| 14 | g.91305825T>C | CA487549082 | CCDC88C | c.3297A>G (p.Lys1099=) c.3189A>G (p.Lys1063=) n.3425A>G c.378A>G (p.Lys126=) n.3423A>G | ClinVar gnomAD v4 |
| 14 | g.91305825T>G | CA390623208 | CCDC88C | c.3297A>C (p.Lys1099Asn) c.3189A>C (p.Lys1063Asn) n.3425A>C c.378A>C (p.Lys126Asn) n.3423A>C | gnomAD v4 |
| 14 | g.91305826T>A | CA390623211 | CCDC88C | c.3296A>T (p.Lys1099Ile) c.3188A>T (p.Lys1063Ile) n.3424A>T c.377A>T (p.Lys126Ile) n.3422A>T | |
| 14 | g.91305826T>C | CA390623210 | CCDC88C | c.3296A>G (p.Lys1099Arg) c.3188A>G (p.Lys1063Arg) n.3424A>G c.377A>G (p.Lys126Arg) n.3422A>G | |
| 14 | g.91305826T>G | CA390623209 | CCDC88C | c.3296A>C (p.Lys1099Thr) c.3188A>C (p.Lys1063Thr) n.3424A>C c.377A>C (p.Lys126Thr) n.3422A>C | |
| 14 | g.91305827T>A | CA390623212 | CCDC88C | c.3295A>T (p.Lys1099Ter) c.3187A>T (p.Lys1063Ter) n.3423A>T c.376A>T (p.Lys126Ter) n.3421A>T | |
| 14 | g.91305827T>C | CA390623213 | CCDC88C | c.3295A>G (p.Lys1099Glu) c.3187A>G (p.Lys1063Glu) n.3423A>G c.376A>G (p.Lys126Glu) n.3421A>G | |
| 14 | g.91305827T>G | CA390623214 | CCDC88C | c.3295A>C (p.Lys1099Gln) c.3187A>C (p.Lys1063Gln) n.3423A>C c.376A>C (p.Lys126Gln) n.3421A>C | |
| 14 | g.91305828C>A | CA390623215 | CCDC88C | c.3294G>T (p.Gln1098His) c.3186G>T (p.Gln1062His) n.3422G>T c.375G>T (p.Gln125His) n.3420G>T | |
| 14 | g.91305828C>G | CA390623216 | CCDC88C | c.3294G>C (p.Gln1098His) c.3186G>C (p.Gln1062His) n.3422G>C c.375G>C (p.Gln125His) n.3420G>C | |
| 14 | g.91305828C>T | CA487549084 | CCDC88C | c.3294G>A (p.Gln1098=) c.3186G>A (p.Gln1062=) n.3422G>A c.375G>A (p.Gln125=) n.3420G>A | |
| 14 | g.91305829T>A | CA390623217 | CCDC88C | c.3293A>T (p.Gln1098Leu) c.3185A>T (p.Gln1062Leu) n.3421A>T c.374A>T (p.Gln125Leu) n.3419A>T | |
| 14 | g.91305829T>C | CA390623218 | CCDC88C | c.3293A>G (p.Gln1098Arg) c.3185A>G (p.Gln1062Arg) n.3421A>G c.374A>G (p.Gln125Arg) n.3419A>G | |
| 14 | g.91305829T>G | CA390623220 | CCDC88C | c.3293A>C (p.Gln1098Pro) c.3185A>C (p.Gln1062Pro) n.3421A>C c.374A>C (p.Gln125Pro) n.3419A>C | |
| 14 | g.91305830G>A | CA390623222 | CCDC88C | c.3292C>T (p.Gln1098Ter) c.3184C>T (p.Gln1062Ter) n.3420C>T c.373C>T (p.Gln125Ter) n.3418C>T | |
| 14 | g.91305830G>C | CA390623224 | CCDC88C | c.3292C>G (p.Gln1098Glu) c.3184C>G (p.Gln1062Glu) n.3420C>G c.373C>G (p.Gln125Glu) n.3418C>G | |
| 14 | g.91305830G>T | CA390623225 | CCDC88C | c.3292C>A (p.Gln1098Lys) c.3184C>A (p.Gln1062Lys) n.3420C>A c.373C>A (p.Gln125Lys) n.3418C>A | |
| 14 | g.91305831C>A | CA487549086 | CCDC88C | c.3291G>T (p.Leu1097=) c.3183G>T (p.Leu1061=) n.3419G>T c.372G>T (p.Leu124=) n.3417G>T | |
| 14 | g.91305831C>G | CA487549087 | CCDC88C | c.3291G>C (p.Leu1097=) c.3183G>C (p.Leu1061=) n.3419G>C c.372G>C (p.Leu124=) n.3417G>C | |
| 14 | g.91305831C>T | CA487549088 | CCDC88C | c.3291G>A (p.Leu1097=) c.3183G>A (p.Leu1061=) n.3419G>A c.372G>A (p.Leu124=) n.3417G>A | |
| 14 | g.91305832A>C | CA390623227 | CCDC88C | c.3290T>G (p.Leu1097Arg) c.3182T>G (p.Leu1061Arg) n.3418T>G c.371T>G (p.Leu124Arg) n.3416T>G | |
| 14 | g.91305832A>G | CA390623229 | CCDC88C | c.3290T>C (p.Leu1097Pro) c.3182T>C (p.Leu1061Pro) n.3418T>C c.371T>C (p.Leu124Pro) n.3416T>C | |
| 14 | g.91305832A>T | CA390623231 | CCDC88C | c.3290T>A (p.Leu1097Gln) c.3182T>A (p.Leu1061Gln) n.3418T>A c.371T>A (p.Leu124Gln) n.3416T>A | |
| 14 | g.91305833G>A | CA487549090 | CCDC88C | c.3289C>T (p.Leu1097=) c.3181C>T (p.Leu1061=) n.3417C>T c.370C>T (p.Leu124=) n.3415C>T | |
| 14 | g.91305833G>C | CA390623232 | CCDC88C | c.3289C>G (p.Leu1097Val) c.3181C>G (p.Leu1061Val) n.3417C>G c.370C>G (p.Leu124Val) n.3415C>G | |
| 14 | g.91305833G= | CA2154901348 | CCDC88C | c.3289C= (p.Leu1097=) c.3181C= (p.Leu1061=) n.3417C= c.370C= (p.Leu124=) n.3415C= | |
| 14 | g.91305833G>T | CA390623233 | CCDC88C | c.3289C>A (p.Leu1097Met) c.3181C>A (p.Leu1061Met) n.3417C>A c.370C>A (p.Leu124Met) n.3415C>A | dbSNP |
| 14 | g.91305834T>A | CA487549092 | CCDC88C | c.3288A>T (p.Thr1096=) c.3180A>T (p.Thr1060=) n.3416A>T c.369A>T (p.Thr123=) n.3414A>T | |
| 14 | g.91305834T>C | CA7309400 | CCDC88C | c.3288A>G (p.Thr1096=) c.3180A>G (p.Thr1060=) n.3416A>G c.369A>G (p.Thr123=) n.3414A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.91305834T>G | CA487549094 | CCDC88C | c.3288A>C (p.Thr1096=) c.3180A>C (p.Thr1060=) n.3416A>C c.369A>C (p.Thr123=) n.3414A>C | |
| 14 | g.91305834T= | CA2154901352 | CCDC88C | c.3288A= (p.Thr1096=) c.3180A= (p.Thr1060=) n.3416A= c.369A= (p.Thr123=) n.3414A= |