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 |
|---|---|---|---|---|---|
| 1 | g.102914736_102914745del | CA2580612931 | COL11A1 | c.3883_3892del (p.Ala1295HisfsTer?) c.3766_3775del (p.Ala1256HisfsTer?) c.3919_3928del (p.Ala1307HisfsTer?) c.3535_3544del (p.Ala1179HisfsTer?) c.3217_3226del c.2116_2125del (p.Ala706HisfsTer?) c.1471_1480del (p.Ala491HisfsTer?) n.4217_4226del c.4036_4045del (p.Ala1346HisfsTer?) c.4030_4039del (p.Ala1344HisfsTer?) c.2434_2443del (p.Ala812HisfsTer?) n.4243_4252del | ClinVar |
| 1 | g.102914737C>A | CA419198083 | COL11A1 | c.3891G>T (p.Gly1297=) c.3774G>T (p.Gly1258=) c.3927G>T (p.Gly1309=) c.3543G>T (p.Gly1181=) c.3225G>T c.2124G>T (p.Gly708=) c.1479G>T (p.Gly493=) n.4225G>T c.4044G>T (p.Gly1348=) c.4038G>T (p.Gly1346=) c.2442G>T (p.Gly814=) n.4251G>T | |
| 1 | g.102914737C= | CA1185243155 | COL11A1 | c.3891G= (p.Gly1297=) c.3774G= (p.Gly1258=) c.3927G= (p.Gly1309=) c.3543G= (p.Gly1181=) c.3225G= c.2124G= (p.Gly708=) c.1479G= (p.Gly493=) n.4225G= c.4044G= (p.Gly1348=) c.4038G= (p.Gly1346=) c.2442G= (p.Gly814=) n.4251G= | |
| 1 | g.102914737C>G | CA419198086 | COL11A1 | c.3891G>C (p.Gly1297=) c.3774G>C (p.Gly1258=) c.3927G>C (p.Gly1309=) c.3543G>C (p.Gly1181=) c.3225G>C c.2124G>C (p.Gly708=) c.1479G>C (p.Gly493=) n.4225G>C c.4044G>C (p.Gly1348=) c.4038G>C (p.Gly1346=) c.2442G>C (p.Gly814=) n.4251G>C | |
| 1 | g.102914737C>T | CA973785 | COL11A1 | c.3891G>A (p.Gly1297=) c.3774G>A (p.Gly1258=) c.3927G>A (p.Gly1309=) c.3543G>A (p.Gly1181=) c.3225G>A c.2124G>A (p.Gly708=) c.1479G>A (p.Gly493=) n.4225G>A c.4044G>A (p.Gly1348=) c.4038G>A (p.Gly1346=) c.2442G>A (p.Gly814=) n.4251G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.102914740dup | CA645522712 | COL11A1 | c.3891dup (p.Pro1298AlafsTer4) c.3774dup (p.Pro1259AlafsTer4) c.3927dup (p.Pro1310AlafsTer4) c.3543dup (p.Pro1182AlafsTer4) c.3225dup c.2124dup (p.Pro709AlafsTer4) c.1479dup (p.Pro494AlafsTer4) n.4225dup c.4044dup (p.Pro1349AlafsTer4) c.4038dup (p.Pro1347AlafsTer4) c.2442dup (p.Pro815AlafsTer4) n.4251dup | COSMIC COSMIC |
| 1 | g.102914738C>A | CA341161335 | COL11A1 | c.3890G>T (p.Gly1297Val) c.3773G>T (p.Gly1258Val) c.3926G>T (p.Gly1309Val) c.3542G>T (p.Gly1181Val) c.3224G>T c.2123G>T (p.Gly708Val) c.1478G>T (p.Gly493Val) n.4224G>T c.4043G>T (p.Gly1348Val) c.4037G>T (p.Gly1346Val) c.2441G>T (p.Gly814Val) n.4250G>T | |
| 1 | g.102914738C>G | CA341161331 | COL11A1 | c.3890G>C (p.Gly1297Ala) c.3773G>C (p.Gly1258Ala) c.3926G>C (p.Gly1309Ala) c.3542G>C (p.Gly1181Ala) c.3224G>C c.2123G>C (p.Gly708Ala) c.1478G>C (p.Gly493Ala) n.4224G>C c.4043G>C (p.Gly1348Ala) c.4037G>C (p.Gly1346Ala) c.2441G>C (p.Gly814Ala) n.4250G>C | COSMIC COSMIC |
| 1 | g.102914738C>T | CA341161332 | COL11A1 | c.3890G>A (p.Gly1297Glu) c.3773G>A (p.Gly1258Glu) c.3926G>A (p.Gly1309Glu) c.3542G>A (p.Gly1181Glu) c.3224G>A c.2123G>A (p.Gly708Glu) c.1478G>A (p.Gly493Glu) n.4224G>A c.4043G>A (p.Gly1348Glu) c.4037G>A (p.Gly1346Glu) c.2441G>A (p.Gly814Glu) n.4250G>A | |
| 1 | g.102914739C>A | CA341161337 | COL11A1 | c.3889G>T (p.Gly1297Trp) c.3772G>T (p.Gly1258Trp) c.3925G>T (p.Gly1309Trp) c.3541G>T (p.Gly1181Trp) c.3223G>T c.2122G>T (p.Gly708Trp) c.1477G>T (p.Gly493Trp) n.4223G>T c.4042G>T (p.Gly1348Trp) c.4036G>T (p.Gly1346Trp) c.2440G>T (p.Gly814Trp) n.4249G>T | |
| 1 | g.102914739C>G | CA341161339 | COL11A1 | c.3889G>C (p.Gly1297Arg) c.3772G>C (p.Gly1258Arg) c.3925G>C (p.Gly1309Arg) c.3541G>C (p.Gly1181Arg) c.3223G>C c.2122G>C (p.Gly708Arg) c.1477G>C (p.Gly493Arg) n.4223G>C c.4042G>C (p.Gly1348Arg) c.4036G>C (p.Gly1346Arg) c.2440G>C (p.Gly814Arg) n.4249G>C | |
| 1 | g.102914739C>T | CA341161340 | COL11A1 | c.3889G>A (p.Gly1297Arg) c.3772G>A (p.Gly1258Arg) c.3925G>A (p.Gly1309Arg) c.3541G>A (p.Gly1181Arg) c.3223G>A c.2122G>A (p.Gly708Arg) c.1477G>A (p.Gly493Arg) n.4223G>A c.4042G>A (p.Gly1348Arg) c.4036G>A (p.Gly1346Arg) c.2440G>A (p.Gly814Arg) n.4249G>A | ClinVar dbSNP |
| 1 | g.102914740C>A | CA341161350 | COL11A1 | c.3888G>T (p.Lys1296Asn) c.3771G>T (p.Lys1257Asn) c.3924G>T (p.Lys1308Asn) c.3540G>T (p.Lys1180Asn) c.3222G>T c.2121G>T (p.Lys707Asn) c.1476G>T (p.Lys492Asn) n.4222G>T c.4041G>T (p.Lys1347Asn) c.4035G>T (p.Lys1345Asn) c.2439G>T (p.Lys813Asn) n.4248G>T | |
| 1 | g.102914740C>G | CA341161352 | COL11A1 | c.3888G>C (p.Lys1296Asn) c.3771G>C (p.Lys1257Asn) c.3924G>C (p.Lys1308Asn) c.3540G>C (p.Lys1180Asn) c.3222G>C c.2121G>C (p.Lys707Asn) c.1476G>C (p.Lys492Asn) n.4222G>C c.4041G>C (p.Lys1347Asn) c.4035G>C (p.Lys1345Asn) c.2439G>C (p.Lys813Asn) n.4248G>C | |
| 1 | g.102914740C>T | CA419198107 | COL11A1 | c.3888G>A (p.Lys1296=) c.3771G>A (p.Lys1257=) c.3924G>A (p.Lys1308=) c.3540G>A (p.Lys1180=) c.3222G>A c.2121G>A (p.Lys707=) c.1476G>A (p.Lys492=) n.4222G>A c.4041G>A (p.Lys1347=) c.4035G>A (p.Lys1345=) c.2439G>A (p.Lys813=) n.4248G>A | |
| 1 | g.102914741T>A | CA341161354 | COL11A1 | c.3887A>T (p.Lys1296Met) c.3770A>T (p.Lys1257Met) c.3923A>T (p.Lys1308Met) c.3539A>T (p.Lys1180Met) c.3221A>T c.2120A>T (p.Lys707Met) c.1475A>T (p.Lys492Met) n.4221A>T c.4040A>T (p.Lys1347Met) c.4034A>T (p.Lys1345Met) c.2438A>T (p.Lys813Met) n.4247A>T | |
| 1 | g.102914741T>C | CA341161356 | COL11A1 | c.3887A>G (p.Lys1296Arg) c.3770A>G (p.Lys1257Arg) c.3923A>G (p.Lys1308Arg) c.3539A>G (p.Lys1180Arg) c.3221A>G c.2120A>G (p.Lys707Arg) c.1475A>G (p.Lys492Arg) n.4221A>G c.4040A>G (p.Lys1347Arg) c.4034A>G (p.Lys1345Arg) c.2438A>G (p.Lys813Arg) n.4247A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.102914741T>G | CA341161357 | COL11A1 | c.3887A>C (p.Lys1296Thr) c.3770A>C (p.Lys1257Thr) c.3923A>C (p.Lys1308Thr) c.3539A>C (p.Lys1180Thr) c.3221A>C c.2120A>C (p.Lys707Thr) c.1475A>C (p.Lys492Thr) n.4221A>C c.4040A>C (p.Lys1347Thr) c.4034A>C (p.Lys1345Thr) c.2438A>C (p.Lys813Thr) n.4247A>C | |
| 1 | g.102914741T= | CA1185243156 | COL11A1 | c.3887A= (p.Lys1296=) c.3770A= (p.Lys1257=) c.3923A= (p.Lys1308=) c.3539A= (p.Lys1180=) c.3221A= c.2120A= (p.Lys707=) c.1475A= (p.Lys492=) n.4221A= c.4040A= (p.Lys1347=) c.4034A= (p.Lys1345=) c.2438A= (p.Lys813=) n.4247A= | |
| 1 | g.102914742T>A | CA341161359 | COL11A1 | c.3886A>T (p.Lys1296Ter) c.3769A>T (p.Lys1257Ter) c.3922A>T (p.Lys1308Ter) c.3538A>T (p.Lys1180Ter) c.3220A>T c.2119A>T (p.Lys707Ter) c.1474A>T (p.Lys492Ter) n.4220A>T c.4039A>T (p.Lys1347Ter) c.4033A>T (p.Lys1345Ter) c.2437A>T (p.Lys813Ter) n.4246A>T | |
| 1 | g.102914742T>C | CA341161360 | COL11A1 | c.3886A>G (p.Lys1296Glu) c.3769A>G (p.Lys1257Glu) c.3922A>G (p.Lys1308Glu) c.3538A>G (p.Lys1180Glu) c.3220A>G c.2119A>G (p.Lys707Glu) c.1474A>G (p.Lys492Glu) n.4220A>G c.4039A>G (p.Lys1347Glu) c.4033A>G (p.Lys1345Glu) c.2437A>G (p.Lys813Glu) n.4246A>G | |
| 1 | g.102914742T>G | CA341161362 | COL11A1 | c.3886A>C (p.Lys1296Gln) c.3769A>C (p.Lys1257Gln) c.3922A>C (p.Lys1308Gln) c.3538A>C (p.Lys1180Gln) c.3220A>C c.2119A>C (p.Lys707Gln) c.1474A>C (p.Lys492Gln) n.4220A>C c.4039A>C (p.Lys1347Gln) c.4033A>C (p.Lys1345Gln) c.2437A>C (p.Lys813Gln) n.4246A>C | |
| 1 | g.102914743G>A | CA419198108 | COL11A1 | c.3885C>T (p.Ala1295=) c.3768C>T (p.Ala1256=) c.3921C>T (p.Ala1307=) c.3537C>T (p.Ala1179=) c.3219C>T c.2118C>T (p.Ala706=) c.1473C>T (p.Ala491=) n.4219C>T c.4038C>T (p.Ala1346=) c.4032C>T (p.Ala1344=) c.2436C>T (p.Ala812=) n.4245C>T | |
| 1 | g.102914743G>C | CA419198110 | COL11A1 | c.3885C>G (p.Ala1295=) c.3768C>G (p.Ala1256=) c.3921C>G (p.Ala1307=) c.3537C>G (p.Ala1179=) c.3219C>G c.2118C>G (p.Ala706=) c.1473C>G (p.Ala491=) n.4219C>G c.4038C>G (p.Ala1346=) c.4032C>G (p.Ala1344=) c.2436C>G (p.Ala812=) n.4245C>G | |
| 1 | g.102914743G>T | CA419198111 | COL11A1 | c.3885C>A (p.Ala1295=) c.3768C>A (p.Ala1256=) c.3921C>A (p.Ala1307=) c.3537C>A (p.Ala1179=) c.3219C>A c.2118C>A (p.Ala706=) c.1473C>A (p.Ala491=) n.4219C>A c.4038C>A (p.Ala1346=) c.4032C>A (p.Ala1344=) c.2436C>A (p.Ala812=) n.4245C>A | |
| 1 | g.102914744G>A | CA341161366 | COL11A1 | c.3884C>T (p.Ala1295Val) c.3767C>T (p.Ala1256Val) c.3920C>T (p.Ala1307Val) c.3536C>T (p.Ala1179Val) c.3218C>T c.2117C>T (p.Ala706Val) c.1472C>T (p.Ala491Val) n.4218C>T c.4037C>T (p.Ala1346Val) c.4031C>T (p.Ala1344Val) c.2435C>T (p.Ala812Val) n.4244C>T | dbSNP gnomAD v4 |
| 1 | g.102914744G>C | CA341161365 | COL11A1 | c.3884C>G (p.Ala1295Gly) c.3767C>G (p.Ala1256Gly) c.3920C>G (p.Ala1307Gly) c.3536C>G (p.Ala1179Gly) c.3218C>G c.2117C>G (p.Ala706Gly) c.1472C>G (p.Ala491Gly) n.4218C>G c.4037C>G (p.Ala1346Gly) c.4031C>G (p.Ala1344Gly) c.2435C>G (p.Ala812Gly) n.4244C>G | |
| 1 | g.102914744G= | CA1185243157 | COL11A1 | c.3884C= (p.Ala1295=) c.3767C= (p.Ala1256=) c.3920C= (p.Ala1307=) c.3536C= (p.Ala1179=) c.3218C= c.2117C= (p.Ala706=) c.1472C= (p.Ala491=) n.4218C= c.4037C= (p.Ala1346=) c.4031C= (p.Ala1344=) c.2435C= (p.Ala812=) n.4244C= | |
| 1 | g.102914744G>T | CA341161364 | COL11A1 | c.3884C>A (p.Ala1295Asp) c.3767C>A (p.Ala1256Asp) c.3920C>A (p.Ala1307Asp) c.3536C>A (p.Ala1179Asp) c.3218C>A c.2117C>A (p.Ala706Asp) c.1472C>A (p.Ala491Asp) n.4218C>A c.4037C>A (p.Ala1346Asp) c.4031C>A (p.Ala1344Asp) c.2435C>A (p.Ala812Asp) n.4244C>A | |
| 1 | g.102914745C>A | CA341161367 | COL11A1 | c.3883G>T (p.Ala1295Ser) c.3766G>T (p.Ala1256Ser) c.3919G>T (p.Ala1307Ser) c.3535G>T (p.Ala1179Ser) c.3217G>T c.2116G>T (p.Ala706Ser) c.1471G>T (p.Ala491Ser) n.4217G>T c.4036G>T (p.Ala1346Ser) c.4030G>T (p.Ala1344Ser) c.2434G>T (p.Ala812Ser) n.4243G>T | |
| 1 | g.102914745C>G | CA341161368 | COL11A1 | c.3883G>C (p.Ala1295Pro) c.3766G>C (p.Ala1256Pro) c.3919G>C (p.Ala1307Pro) c.3535G>C (p.Ala1179Pro) c.3217G>C c.2116G>C (p.Ala706Pro) c.1471G>C (p.Ala491Pro) n.4217G>C c.4036G>C (p.Ala1346Pro) c.4030G>C (p.Ala1344Pro) c.2434G>C (p.Ala812Pro) n.4243G>C | |
| 1 | g.102914745C>T | CA341161369 | COL11A1 | c.3883G>A (p.Ala1295Thr) c.3766G>A (p.Ala1256Thr) c.3919G>A (p.Ala1307Thr) c.3535G>A (p.Ala1179Thr) c.3217G>A c.2116G>A (p.Ala706Thr) c.1471G>A (p.Ala491Thr) n.4217G>A c.4036G>A (p.Ala1346Thr) c.4030G>A (p.Ala1344Thr) c.2434G>A (p.Ala812Thr) n.4243G>A | |
| 1 | g.102914746A>C | CA419198118 | COL11A1 | c.3882T>G (p.Gly1294=) c.3765T>G (p.Gly1255=) c.3918T>G (p.Gly1306=) c.3534T>G (p.Gly1178=) c.3216T>G c.2115T>G (p.Gly705=) c.1470T>G (p.Gly490=) n.4216T>G c.4035T>G (p.Gly1345=) c.4029T>G (p.Gly1343=) c.2433T>G (p.Gly811=) n.4242T>G | |
| 1 | g.102914746A>G | CA419198119 | COL11A1 | c.3882T>C (p.Gly1294=) c.3765T>C (p.Gly1255=) c.3918T>C (p.Gly1306=) c.3534T>C (p.Gly1178=) c.3216T>C c.2115T>C (p.Gly705=) c.1470T>C (p.Gly490=) n.4216T>C c.4035T>C (p.Gly1345=) c.4029T>C (p.Gly1343=) c.2433T>C (p.Gly811=) n.4242T>C | |
| 1 | g.102914746A>T | CA419198120 | COL11A1 | c.3882T>A (p.Gly1294=) c.3765T>A (p.Gly1255=) c.3918T>A (p.Gly1306=) c.3534T>A (p.Gly1178=) c.3216T>A c.2115T>A (p.Gly705=) c.1470T>A (p.Gly490=) n.4216T>A c.4035T>A (p.Gly1345=) c.4029T>A (p.Gly1343=) c.2433T>A (p.Gly811=) n.4242T>A | COSMIC COSMIC |
| 1 | g.102914747C>A | CA341161374 | COL11A1 | c.3881G>T (p.Gly1294Val) c.3764G>T (p.Gly1255Val) c.3917G>T (p.Gly1306Val) c.3533G>T (p.Gly1178Val) c.3215G>T c.2114G>T (p.Gly705Val) c.1469G>T (p.Gly490Val) n.4215G>T c.4034G>T (p.Gly1345Val) c.4028G>T (p.Gly1343Val) c.2432G>T (p.Gly811Val) n.4241G>T | |
| 1 | g.102914747C= | CA1185243158 | COL11A1 | c.3881G= (p.Gly1294=) c.3764G= (p.Gly1255=) c.3917G= (p.Gly1306=) c.3533G= (p.Gly1178=) c.3215G= c.2114G= (p.Gly705=) c.1469G= (p.Gly490=) n.4215G= c.4034G= (p.Gly1345=) c.4028G= (p.Gly1343=) c.2432G= (p.Gly811=) n.4241G= | |
| 1 | g.102914747C>G | CA341161375 | COL11A1 | c.3881G>C (p.Gly1294Ala) c.3764G>C (p.Gly1255Ala) c.3917G>C (p.Gly1306Ala) c.3533G>C (p.Gly1178Ala) c.3215G>C c.2114G>C (p.Gly705Ala) c.1469G>C (p.Gly490Ala) n.4215G>C c.4034G>C (p.Gly1345Ala) c.4028G>C (p.Gly1343Ala) c.2432G>C (p.Gly811Ala) n.4241G>C | |
| 1 | g.102914747C>T | CA973786 | COL11A1 | c.3881G>A (p.Gly1294Asp) c.3764G>A (p.Gly1255Asp) c.3917G>A (p.Gly1306Asp) c.3533G>A (p.Gly1178Asp) c.3215G>A c.2114G>A (p.Gly705Asp) c.1469G>A (p.Gly490Asp) n.4215G>A c.4034G>A (p.Gly1345Asp) c.4028G>A (p.Gly1343Asp) c.2432G>A (p.Gly811Asp) n.4241G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.102914748C>A | CA341161381 | COL11A1 | c.3880G>T (p.Gly1294Cys) c.3763G>T (p.Gly1255Cys) c.3916G>T (p.Gly1306Cys) c.3532G>T (p.Gly1178Cys) c.3214G>T c.2113G>T (p.Gly705Cys) c.1468G>T (p.Gly490Cys) n.4214G>T c.4033G>T (p.Gly1345Cys) c.4027G>T (p.Gly1343Cys) c.2431G>T (p.Gly811Cys) n.4240G>T | |
| 1 | g.102914748C>G | CA341161383 | COL11A1 | c.3880G>C (p.Gly1294Arg) c.3763G>C (p.Gly1255Arg) c.3916G>C (p.Gly1306Arg) c.3532G>C (p.Gly1178Arg) c.3214G>C c.2113G>C (p.Gly705Arg) c.1468G>C (p.Gly490Arg) n.4214G>C c.4033G>C (p.Gly1345Arg) c.4027G>C (p.Gly1343Arg) c.2431G>C (p.Gly811Arg) n.4240G>C | |
| 1 | g.102914748C>T | CA341161386 | COL11A1 | c.3880G>A (p.Gly1294Ser) c.3763G>A (p.Gly1255Ser) c.3916G>A (p.Gly1306Ser) c.3532G>A (p.Gly1178Ser) c.3214G>A c.2113G>A (p.Gly705Ser) c.1468G>A (p.Gly490Ser) n.4214G>A c.4033G>A (p.Gly1345Ser) c.4027G>A (p.Gly1343Ser) c.2431G>A (p.Gly811Ser) n.4240G>A | |
| 1 | g.102914749T>A | CA419198124 | COL11A1 | c.3879A>T (p.Pro1293=) c.3762A>T (p.Pro1254=) c.3915A>T (p.Pro1305=) c.3531A>T (p.Pro1177=) c.3213A>T c.2112A>T (p.Pro704=) c.1467A>T (p.Pro489=) n.4213A>T c.4032A>T (p.Pro1344=) c.4026A>T (p.Pro1342=) c.2430A>T (p.Pro810=) n.4239A>T | dbSNP |
| 1 | g.102914749T>C | CA419198126 | COL11A1 | c.3879A>G (p.Pro1293=) c.3762A>G (p.Pro1254=) c.3915A>G (p.Pro1305=) c.3531A>G (p.Pro1177=) c.3213A>G c.2112A>G (p.Pro704=) c.1467A>G (p.Pro489=) n.4213A>G c.4032A>G (p.Pro1344=) c.4026A>G (p.Pro1342=) c.2430A>G (p.Pro810=) n.4239A>G | gnomAD v4 |
| 1 | g.102914749T>G | CA419198128 | COL11A1 | c.3879A>C (p.Pro1293=) c.3762A>C (p.Pro1254=) c.3915A>C (p.Pro1305=) c.3531A>C (p.Pro1177=) c.3213A>C c.2112A>C (p.Pro704=) c.1467A>C (p.Pro489=) n.4213A>C c.4032A>C (p.Pro1344=) c.4026A>C (p.Pro1342=) c.2430A>C (p.Pro810=) n.4239A>C | dbSNP |
| 1 | g.102914749T= | CA1185243159 | COL11A1 | c.3879A= (p.Pro1293=) c.3762A= (p.Pro1254=) c.3915A= (p.Pro1305=) c.3531A= (p.Pro1177=) c.3213A= c.2112A= (p.Pro704=) c.1467A= (p.Pro489=) n.4213A= c.4032A= (p.Pro1344=) c.4026A= (p.Pro1342=) c.2430A= (p.Pro810=) n.4239A= | |
| 1 | g.102914750G>A | CA341161389 | COL11A1 | c.3878C>T (p.Pro1293Leu) c.3761C>T (p.Pro1254Leu) c.3914C>T (p.Pro1305Leu) c.3530C>T (p.Pro1177Leu) c.3212C>T c.2111C>T (p.Pro704Leu) c.1466C>T (p.Pro489Leu) n.4212C>T c.4031C>T (p.Pro1344Leu) c.4025C>T (p.Pro1342Leu) c.2429C>T (p.Pro810Leu) n.4238C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.102914750G>C | CA341161392 | COL11A1 | c.3878C>G (p.Pro1293Arg) c.3761C>G (p.Pro1254Arg) c.3914C>G (p.Pro1305Arg) c.3530C>G (p.Pro1177Arg) c.3212C>G c.2111C>G (p.Pro704Arg) c.1466C>G (p.Pro489Arg) n.4212C>G c.4031C>G (p.Pro1344Arg) c.4025C>G (p.Pro1342Arg) c.2429C>G (p.Pro810Arg) n.4238C>G | |
| 1 | g.102914750G= | CA1185243160 | COL11A1 | c.3878C= (p.Pro1293=) c.3761C= (p.Pro1254=) c.3914C= (p.Pro1305=) c.3530C= (p.Pro1177=) c.3212C= c.2111C= (p.Pro704=) c.1466C= (p.Pro489=) n.4212C= c.4031C= (p.Pro1344=) c.4025C= (p.Pro1342=) c.2429C= (p.Pro810=) n.4238C= | |
| 1 | g.102914750G>T | CA341161397 | COL11A1 | c.3878C>A (p.Pro1293Gln) c.3761C>A (p.Pro1254Gln) c.3914C>A (p.Pro1305Gln) c.3530C>A (p.Pro1177Gln) c.3212C>A c.2111C>A (p.Pro704Gln) c.1466C>A (p.Pro489Gln) n.4212C>A c.4031C>A (p.Pro1344Gln) c.4025C>A (p.Pro1342Gln) c.2429C>A (p.Pro810Gln) n.4238C>A |