WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.113327793A= | CA1394216729 | CFAP44 | c.4143T= (p.Asp1381=) c.5T= c.1552T= c.1848T= (p.Asp616=) c.4275T= (p.Asp1425=) c.4122T= (p.Asp1374=) c.3903T= (p.Asp1301=) c.3594T= (p.Asp1198=) c.3243T= (p.Asp1081=) n.4800T= | |
| 3 | g.113327793A>C | CA353777915 | CFAP44 | c.4143T>G (p.Asp1381Glu) c.5T>G c.1552T>G c.1848T>G (p.Asp616Glu) c.4275T>G (p.Asp1425Glu) c.4122T>G (p.Asp1374Glu) c.3903T>G (p.Asp1301Glu) c.3594T>G (p.Asp1198Glu) c.3243T>G (p.Asp1081Glu) n.4800T>G | |
| 3 | g.113327793A>G | CA2543658 | CFAP44 | c.4143T>C (p.Asp1381=) c.5T>C c.1552T>C c.1848T>C (p.Asp616=) c.4275T>C (p.Asp1425=) c.4122T>C (p.Asp1374=) c.3903T>C (p.Asp1301=) c.3594T>C (p.Asp1198=) c.3243T>C (p.Asp1081=) n.4800T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327793A>T | CA353777913 | CFAP44 | c.4143T>A (p.Asp1381Glu) c.5T>A c.1552T>A c.1848T>A (p.Asp616Glu) c.4275T>A (p.Asp1425Glu) c.4122T>A (p.Asp1374Glu) c.3903T>A (p.Asp1301Glu) c.3594T>A (p.Asp1198Glu) c.3243T>A (p.Asp1081Glu) n.4800T>A | |
| 3 | g.113327794T>A | CA353777919 | CFAP44 | c.4142A>T (p.Asp1381Val) c.4A>T c.1551A>T c.1847A>T (p.Asp616Val) c.4274A>T (p.Asp1425Val) c.4121A>T (p.Asp1374Val) c.3902A>T (p.Asp1301Val) c.3593A>T (p.Asp1198Val) c.3242A>T (p.Asp1081Val) n.4799A>T | |
| 3 | g.113327794T>C | CA353777921 | CFAP44 | c.4142A>G (p.Asp1381Gly) c.4A>G c.1551A>G c.1847A>G (p.Asp616Gly) c.4274A>G (p.Asp1425Gly) c.4121A>G (p.Asp1374Gly) c.3902A>G (p.Asp1301Gly) c.3593A>G (p.Asp1198Gly) c.3242A>G (p.Asp1081Gly) n.4799A>G | |
| 3 | g.113327794T>G | CA353777922 | CFAP44 | c.4142A>C (p.Asp1381Ala) c.4A>C c.1551A>C c.1847A>C (p.Asp616Ala) c.4274A>C (p.Asp1425Ala) c.4121A>C (p.Asp1374Ala) c.3902A>C (p.Asp1301Ala) c.3593A>C (p.Asp1198Ala) c.3242A>C (p.Asp1081Ala) n.4799A>C | |
| 3 | g.113327795C>A | CA353777924 | CFAP44 | c.4141G>T (p.Asp1381Tyr) c.3G>T c.1550G>T c.1846G>T (p.Asp616Tyr) c.4273G>T (p.Asp1425Tyr) c.4120G>T (p.Asp1374Tyr) c.3901G>T (p.Asp1301Tyr) c.3592G>T (p.Asp1198Tyr) c.3241G>T (p.Asp1081Tyr) n.4798G>T | |
| 3 | g.113327795C= | CA1394216735 | CFAP44 | c.4141G= (p.Asp1381=) c.3G= c.1550G= c.1846G= (p.Asp616=) c.4273G= (p.Asp1425=) c.4120G= (p.Asp1374=) c.3901G= (p.Asp1301=) c.3592G= (p.Asp1198=) c.3241G= (p.Asp1081=) n.4798G= | |
| 3 | g.113327795C>G | CA353777926 | CFAP44 | c.4141G>C (p.Asp1381His) c.3G>C c.1550G>C c.1846G>C (p.Asp616His) c.4273G>C (p.Asp1425His) c.4120G>C (p.Asp1374His) c.3901G>C (p.Asp1301His) c.3592G>C (p.Asp1198His) c.3241G>C (p.Asp1081His) n.4798G>C | |
| 3 | g.113327795C>T | CA353777927 | CFAP44 | c.4141G>A (p.Asp1381Asn) c.3G>A c.1550G>A c.1846G>A (p.Asp616Asn) c.4273G>A (p.Asp1425Asn) c.4120G>A (p.Asp1374Asn) c.3901G>A (p.Asp1301Asn) c.3592G>A (p.Asp1198Asn) c.3241G>A (p.Asp1081Asn) n.4798G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.113327796G>A | CA81542634 | CFAP44 | c.4140C>T (p.Phe1380=) c.2C>T c.1549C>T c.1845C>T (p.Phe615=) c.4272C>T (p.Phe1424=) c.4119C>T (p.Phe1373=) c.3900C>T (p.Phe1300=) c.3591C>T (p.Phe1197=) c.3240C>T (p.Phe1080=) n.4797C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.113327796G>C | CA2543659 | CFAP44 | c.4140C>G (p.Phe1380Leu) c.2C>G c.1549C>G c.1845C>G (p.Phe615Leu) c.4272C>G (p.Phe1424Leu) c.4119C>G (p.Phe1373Leu) c.3900C>G (p.Phe1300Leu) c.3591C>G (p.Phe1197Leu) c.3240C>G (p.Phe1080Leu) n.4797C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.113327796G= | CA1394216740 | CFAP44 | c.4140C= (p.Phe1380=) c.2C= c.1549C= c.1845C= (p.Phe615=) c.4272C= (p.Phe1424=) c.4119C= (p.Phe1373=) c.3900C= (p.Phe1300=) c.3591C= (p.Phe1197=) c.3240C= (p.Phe1080=) n.4797C= | |
| 3 | g.113327796G>T | CA353777933 | CFAP44 | c.4140C>A (p.Phe1380Leu) c.2C>A c.1549C>A c.1845C>A (p.Phe615Leu) c.4272C>A (p.Phe1424Leu) c.4119C>A (p.Phe1373Leu) c.3900C>A (p.Phe1300Leu) c.3591C>A (p.Phe1197Leu) c.3240C>A (p.Phe1080Leu) n.4797C>A | |
| 3 | g.113327797A>C | CA353777937 | CFAP44 | c.4139T>G (p.Phe1380Cys) c.1T>G c.1548T>G c.1844T>G (p.Phe615Cys) c.4271T>G (p.Phe1424Cys) c.4118T>G (p.Phe1373Cys) c.3899T>G (p.Phe1300Cys) c.3590T>G (p.Phe1197Cys) c.3239T>G (p.Phe1080Cys) n.4796T>G | gnomAD v4 |
| 3 | g.113327797A>G | CA353777939 | CFAP44 | c.4139T>C (p.Phe1380Ser) c.1T>C c.1548T>C c.1844T>C (p.Phe615Ser) c.4271T>C (p.Phe1424Ser) c.4118T>C (p.Phe1373Ser) c.3899T>C (p.Phe1300Ser) c.3590T>C (p.Phe1197Ser) c.3239T>C (p.Phe1080Ser) n.4796T>C | |
| 3 | g.113327797A>T | CA353777942 | CFAP44 | c.4139T>A (p.Phe1380Tyr) c.1T>A c.1548T>A c.1844T>A (p.Phe615Tyr) c.4271T>A (p.Phe1424Tyr) c.4118T>A (p.Phe1373Tyr) c.3899T>A (p.Phe1300Tyr) c.3590T>A (p.Phe1197Tyr) c.3239T>A (p.Phe1080Tyr) n.4796T>A | |
| 3 | g.113327798A>C | CA353777946 | CFAP44 | c.4138T>G (p.Phe1380Val) c.1547T>G c.1843T>G (p.Phe615Val) c.4270T>G (p.Phe1424Val) c.4117T>G (p.Phe1373Val) c.3898T>G (p.Phe1300Val) c.3589T>G (p.Phe1197Val) c.3238T>G (p.Phe1080Val) n.4795T>G | |
| 3 | g.113327798A>G | CA353777948 | CFAP44 | c.4138T>C (p.Phe1380Leu) c.1547T>C c.1843T>C (p.Phe615Leu) c.4270T>C (p.Phe1424Leu) c.4117T>C (p.Phe1373Leu) c.3898T>C (p.Phe1300Leu) c.3589T>C (p.Phe1197Leu) c.3238T>C (p.Phe1080Leu) n.4795T>C | |
| 3 | g.113327798A>T | CA353777944 | CFAP44 | c.4138T>A (p.Phe1380Ile) c.1547T>A c.1843T>A (p.Phe615Ile) c.4270T>A (p.Phe1424Ile) c.4117T>A (p.Phe1373Ile) c.3898T>A (p.Phe1300Ile) c.3589T>A (p.Phe1197Ile) c.3238T>A (p.Phe1080Ile) n.4795T>A | |
| 3 | g.113327799A>C | CA434930984 | CFAP44 | c.4137T>G (p.Thr1379=) c.1546T>G c.1842T>G (p.Thr614=) c.4269T>G (p.Thr1423=) c.4116T>G (p.Thr1372=) c.3897T>G (p.Thr1299=) c.3588T>G (p.Thr1196=) c.3237T>G (p.Thr1079=) n.4794T>G | |
| 3 | g.113327799A>G | CA434930985 | CFAP44 | c.4137T>C (p.Thr1379=) c.1546T>C c.1842T>C (p.Thr614=) c.4269T>C (p.Thr1423=) c.4116T>C (p.Thr1372=) c.3897T>C (p.Thr1299=) c.3588T>C (p.Thr1196=) c.3237T>C (p.Thr1079=) n.4794T>C | |
| 3 | g.113327799A>T | CA434930986 | CFAP44 | c.4137T>A (p.Thr1379=) c.1546T>A c.1842T>A (p.Thr614=) c.4269T>A (p.Thr1423=) c.4116T>A (p.Thr1372=) c.3897T>A (p.Thr1299=) c.3588T>A (p.Thr1196=) c.3237T>A (p.Thr1079=) n.4794T>A | |
| 3 | g.113327800G>A | CA353777952 | CFAP44 | c.4136C>T (p.Thr1379Ile) c.1545C>T c.1841C>T (p.Thr614Ile) c.4268C>T (p.Thr1423Ile) c.4115C>T (p.Thr1372Ile) c.3896C>T (p.Thr1299Ile) c.3587C>T (p.Thr1196Ile) c.3236C>T (p.Thr1079Ile) n.4793C>T | |
| 3 | g.113327800G>C | CA353777954 | CFAP44 | c.4136C>G (p.Thr1379Ser) c.1545C>G c.1841C>G (p.Thr614Ser) c.4268C>G (p.Thr1423Ser) c.4115C>G (p.Thr1372Ser) c.3896C>G (p.Thr1299Ser) c.3587C>G (p.Thr1196Ser) c.3236C>G (p.Thr1079Ser) n.4793C>G | gnomAD v4 |
| 3 | g.113327800G>T | CA353777956 | CFAP44 | c.4136C>A (p.Thr1379Asn) c.1545C>A c.1841C>A (p.Thr614Asn) c.4268C>A (p.Thr1423Asn) c.4115C>A (p.Thr1372Asn) c.3896C>A (p.Thr1299Asn) c.3587C>A (p.Thr1196Asn) c.3236C>A (p.Thr1079Asn) n.4793C>A | |
| 3 | g.113327801T>A | CA353777959 | CFAP44 | c.4135A>T (p.Thr1379Ser) c.1544A>T c.1840A>T (p.Thr614Ser) c.4267A>T (p.Thr1423Ser) c.4114A>T (p.Thr1372Ser) c.3895A>T (p.Thr1299Ser) c.3586A>T (p.Thr1196Ser) c.3235A>T (p.Thr1079Ser) n.4792A>T | |
| 3 | g.113327801T>C | CA353777961 | CFAP44 | c.4135A>G (p.Thr1379Ala) c.1544A>G c.1840A>G (p.Thr614Ala) c.4267A>G (p.Thr1423Ala) c.4114A>G (p.Thr1372Ala) c.3895A>G (p.Thr1299Ala) c.3586A>G (p.Thr1196Ala) c.3235A>G (p.Thr1079Ala) n.4792A>G | |
| 3 | g.113327801T>G | CA353777963 | CFAP44 | c.4135A>C (p.Thr1379Pro) c.1544A>C c.1840A>C (p.Thr614Pro) c.4267A>C (p.Thr1423Pro) c.4114A>C (p.Thr1372Pro) c.3895A>C (p.Thr1299Pro) c.3586A>C (p.Thr1196Pro) c.3235A>C (p.Thr1079Pro) n.4792A>C | |
| 3 | g.113327802G>A | CA434930987 | CFAP44 | c.4134C>T (p.Val1378=) c.1543C>T c.1839C>T (p.Val613=) c.4266C>T (p.Val1422=) c.4113C>T (p.Val1371=) c.3894C>T (p.Val1298=) c.3585C>T (p.Val1195=) c.3234C>T (p.Val1078=) n.4791C>T | |
| 3 | g.113327802G>C | CA434930989 | CFAP44 | c.4134C>G (p.Val1378=) c.1543C>G c.1839C>G (p.Val613=) c.4266C>G (p.Val1422=) c.4113C>G (p.Val1371=) c.3894C>G (p.Val1298=) c.3585C>G (p.Val1195=) c.3234C>G (p.Val1078=) n.4791C>G | |
| 3 | g.113327802G>T | CA434930988 | CFAP44 | c.4134C>A (p.Val1378=) c.1543C>A c.1839C>A (p.Val613=) c.4266C>A (p.Val1422=) c.4113C>A (p.Val1371=) c.3894C>A (p.Val1298=) c.3585C>A (p.Val1195=) c.3234C>A (p.Val1078=) n.4791C>A | gnomAD v4 |
| 3 | g.113327803A>C | CA353777970 | CFAP44 | c.4133T>G (p.Val1378Gly) c.1542T>G c.1838T>G (p.Val613Gly) c.4265T>G (p.Val1422Gly) c.4112T>G (p.Val1371Gly) c.3893T>G (p.Val1298Gly) c.3584T>G (p.Val1195Gly) c.3233T>G (p.Val1078Gly) n.4790T>G | |
| 3 | g.113327803A>G | CA353777966 | CFAP44 | c.4133T>C (p.Val1378Ala) c.1542T>C c.1838T>C (p.Val613Ala) c.4265T>C (p.Val1422Ala) c.4112T>C (p.Val1371Ala) c.3893T>C (p.Val1298Ala) c.3584T>C (p.Val1195Ala) c.3233T>C (p.Val1078Ala) n.4790T>C | |
| 3 | g.113327803A>T | CA353777968 | CFAP44 | c.4133T>A (p.Val1378Asp) c.1542T>A c.1838T>A (p.Val613Asp) c.4265T>A (p.Val1422Asp) c.4112T>A (p.Val1371Asp) c.3893T>A (p.Val1298Asp) c.3584T>A (p.Val1195Asp) c.3233T>A (p.Val1078Asp) n.4790T>A | |
| 3 | g.113327804C>A | CA353777974 | CFAP44 | c.4132G>T (p.Val1378Phe) c.1541G>T c.1837G>T (p.Val613Phe) c.4264G>T (p.Val1422Phe) c.4111G>T (p.Val1371Phe) c.3892G>T (p.Val1298Phe) c.3583G>T (p.Val1195Phe) c.3232G>T (p.Val1078Phe) n.4789G>T | |
| 3 | g.113327804C>G | CA353777976 | CFAP44 | c.4132G>C (p.Val1378Leu) c.1541G>C c.1837G>C (p.Val613Leu) c.4264G>C (p.Val1422Leu) c.4111G>C (p.Val1371Leu) c.3892G>C (p.Val1298Leu) c.3583G>C (p.Val1195Leu) c.3232G>C (p.Val1078Leu) n.4789G>C | |
| 3 | g.113327804C>T | CA353777978 | CFAP44 | c.4132G>A (p.Val1378Ile) c.1541G>A c.1837G>A (p.Val613Ile) c.4264G>A (p.Val1422Ile) c.4111G>A (p.Val1371Ile) c.3892G>A (p.Val1298Ile) c.3583G>A (p.Val1195Ile) c.3232G>A (p.Val1078Ile) n.4789G>A | |
| 3 | g.113327805A>C | CA434930990 | CFAP44 | c.4131T>G (p.Val1377=) c.1540T>G c.1836T>G (p.Val612=) c.4263T>G (p.Val1421=) c.4110T>G (p.Val1370=) c.3891T>G (p.Val1297=) c.3582T>G (p.Val1194=) c.3231T>G (p.Val1077=) n.4788T>G | |
| 3 | g.113327805A>G | CA434930991 | CFAP44 | c.4131T>C (p.Val1377=) c.1540T>C c.1836T>C (p.Val612=) c.4263T>C (p.Val1421=) c.4110T>C (p.Val1370=) c.3891T>C (p.Val1297=) c.3582T>C (p.Val1194=) c.3231T>C (p.Val1077=) n.4788T>C | |
| 3 | g.113327805A>T | CA434930992 | CFAP44 | c.4131T>A (p.Val1377=) c.1540T>A c.1836T>A (p.Val612=) c.4263T>A (p.Val1421=) c.4110T>A (p.Val1370=) c.3891T>A (p.Val1297=) c.3582T>A (p.Val1194=) c.3231T>A (p.Val1077=) n.4788T>A | |
| 3 | g.113327806A>C | CA353777980 | CFAP44 | c.4130T>G (p.Val1377Gly) c.1539T>G c.1835T>G (p.Val612Gly) c.4262T>G (p.Val1421Gly) c.4109T>G (p.Val1370Gly) c.3890T>G (p.Val1297Gly) c.3581T>G (p.Val1194Gly) c.3230T>G (p.Val1077Gly) n.4787T>G | |
| 3 | g.113327806A>G | CA353777982 | CFAP44 | c.4130T>C (p.Val1377Ala) c.1539T>C c.1835T>C (p.Val612Ala) c.4262T>C (p.Val1421Ala) c.4109T>C (p.Val1370Ala) c.3890T>C (p.Val1297Ala) c.3581T>C (p.Val1194Ala) c.3230T>C (p.Val1077Ala) n.4787T>C | |
| 3 | g.113327806A>T | CA353777985 | CFAP44 | c.4130T>A (p.Val1377Asp) c.1539T>A c.1835T>A (p.Val612Asp) c.4262T>A (p.Val1421Asp) c.4109T>A (p.Val1370Asp) c.3890T>A (p.Val1297Asp) c.3581T>A (p.Val1194Asp) c.3230T>A (p.Val1077Asp) n.4787T>A | |
| 3 | g.113327806_113327807delinsAC | CA1394216750 | CFAP44 | c.4129_4130delinsGT (p.Val1377=) c.1538_1539delinsGT c.1834_1835delinsGT (p.Val612=) c.4261_4262delinsGT (p.Val1421=) c.4108_4109delinsGT (p.Val1370=) c.3889_3890delinsGT (p.Val1297=) c.3580_3581delinsGT (p.Val1194=) c.3229_3230delinsGT (p.Val1077=) n.4786_4787delinsGT | |
| 3 | g.113327807C>A | CA353777990 | CFAP44 | c.4129G>T (p.Val1377Phe) c.1538G>T c.1834G>T (p.Val612Phe) c.4261G>T (p.Val1421Phe) c.4108G>T (p.Val1370Phe) c.3889G>T (p.Val1297Phe) c.3580G>T (p.Val1194Phe) c.3229G>T (p.Val1077Phe) n.4786G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.113327807C= | CA1394216758 | CFAP44 | c.4129G= (p.Val1377=) c.1538G= c.1834G= (p.Val612=) c.4261G= (p.Val1421=) c.4108G= (p.Val1370=) c.3889G= (p.Val1297=) c.3580G= (p.Val1194=) c.3229G= (p.Val1077=) n.4786G= | |
| 3 | g.113327807C>G | CA353777991 | CFAP44 | c.4129G>C (p.Val1377Leu) c.1538G>C c.1834G>C (p.Val612Leu) c.4261G>C (p.Val1421Leu) c.4108G>C (p.Val1370Leu) c.3889G>C (p.Val1297Leu) c.3580G>C (p.Val1194Leu) c.3229G>C (p.Val1077Leu) n.4786G>C | gnomAD v4 |
| 3 | g.113327807C>T | CA353777987 | CFAP44 | c.4129G>A (p.Val1377Ile) c.1538G>A c.1834G>A (p.Val612Ile) c.4261G>A (p.Val1421Ile) c.4108G>A (p.Val1370Ile) c.3889G>A (p.Val1297Ile) c.3580G>A (p.Val1194Ile) c.3229G>A (p.Val1077Ile) n.4786G>A | dbSNP gnomAD v4 |