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 |
|---|---|---|---|---|---|
| 19 | g.40622646_40622647delinsCA | CA2336068376 | LTBP4 | c.3463_3464delinsCA (p.Gln1155=) c.3553_3554delinsCA (p.Gln1185=) c.1662_1663delinsCA c.3664_3665delinsCA (p.Gln1222=) n.484-958_484-957delinsCA c.535-958_535-957delinsCA n.259_260delinsCA n.968_969delinsCA n.535-958_535-957delinsCA n.453-958_453-957delinsCA c.485-958_485-957delinsCA (n.485-958_485-957delinsCA) c.1100_1101delinsCA n.545-958_545-957delinsCA c.385-958_385-957delinsCA n.727-958_727-957delinsCA c.3778_3779delinsCA (p.Gln1260=) c.3697_3698delinsCA (p.Gln1233=) c.3577_3578delinsCA (p.Gln1193=) c.3571_3572delinsCA (p.Gln1191=) c.3454_3455delinsCA (p.Gln1152=) c.3452-958_3452-957delinsCA (n.3452-958_3452-957delinsCA) c.3326-958_3326-957delinsCA (n.3326-958_3326-957delinsCA) c.3320-958_3320-957delinsCA (n.3320-958_3320-957delinsCA) c.3194-958_3194-957delinsCA (n.3194-958_3194-957delinsCA) c.3055_3056delinsCA (p.Gln1019=) c.3565_3566delinsCA (p.Gln1189=) c.3439_3440delinsCA (p.Gln1147=) c.3200-958_3200-957delinsCA (n.3200-958_3200-957delinsCA) | |
| 19 | g.40622647del | CA212831 | LTBP4 | c.3464del (p.Gln1155ArgfsTer27) c.3554del (p.Gln1185ArgfsTer27) c.1663del c.3665del (p.Gln1222ArgfsTer27) n.484-957del c.535-957del n.260del n.969del n.535-957del n.453-957del c.485-957del (n.485-957del) c.1101del n.545-957del c.385-957del n.727-957del c.3779del (p.Gln1260ArgfsTer27) c.3698del (p.Gln1233ArgfsTer27) c.3698del (p.Gln1233ArgfsTer26) c.3578del (p.Gln1193ArgfsTer27) c.3572del (p.Gln1191ArgfsTer27) c.3455del (p.Gln1152ArgfsTer27) c.3452-957del (n.3452-957del) c.3326-957del (n.3326-957del) c.3320-957del (n.3320-957del) c.3194-957del (n.3194-957del) c.3056del (p.Gln1019ArgfsTer27) c.3566del (p.Gln1189ArgfsTer27) c.3440del (p.Gln1147ArgfsTer27) c.3200-957del (n.3200-957del) | ClinVar dbSNP gnomAD v4 |
| 19 | g.40622647A>C | CA405907072 | LTBP4 | c.3464A>C (p.Gln1155Pro) c.3554A>C (p.Gln1185Pro) c.1663A>C c.3665A>C (p.Gln1222Pro) n.484-957A>C c.535-957A>C n.260A>C n.969A>C n.535-957A>C n.453-957A>C c.485-957A>C (n.485-957A>C) c.1101A>C n.545-957A>C c.385-957A>C n.727-957A>C c.3779A>C (p.Gln1260Pro) c.3698A>C (p.Gln1233Pro) c.3578A>C (p.Gln1193Pro) c.3572A>C (p.Gln1191Pro) c.3455A>C (p.Gln1152Pro) c.3452-957A>C (n.3452-957A>C) c.3326-957A>C (n.3326-957A>C) c.3320-957A>C (n.3320-957A>C) c.3194-957A>C (n.3194-957A>C) c.3056A>C (p.Gln1019Pro) c.3566A>C (p.Gln1189Pro) c.3440A>C (p.Gln1147Pro) c.3200-957A>C (n.3200-957A>C) | |
| 19 | g.40622647A>G | CA405907074 | LTBP4 | c.3464A>G (p.Gln1155Arg) c.3554A>G (p.Gln1185Arg) c.1663A>G c.3665A>G (p.Gln1222Arg) n.484-957A>G c.535-957A>G n.260A>G n.969A>G n.535-957A>G n.453-957A>G c.485-957A>G (n.485-957A>G) c.1101A>G n.545-957A>G c.385-957A>G n.727-957A>G c.3779A>G (p.Gln1260Arg) c.3698A>G (p.Gln1233Arg) c.3578A>G (p.Gln1193Arg) c.3572A>G (p.Gln1191Arg) c.3455A>G (p.Gln1152Arg) c.3452-957A>G (n.3452-957A>G) c.3326-957A>G (n.3326-957A>G) c.3320-957A>G (n.3320-957A>G) c.3194-957A>G (n.3194-957A>G) c.3056A>G (p.Gln1019Arg) c.3566A>G (p.Gln1189Arg) c.3440A>G (p.Gln1147Arg) c.3200-957A>G (n.3200-957A>G) | |
| 19 | g.40622647A>T | CA405907076 | LTBP4 | c.3464A>T (p.Gln1155Leu) c.3554A>T (p.Gln1185Leu) c.1663A>T c.3665A>T (p.Gln1222Leu) n.484-957A>T c.535-957A>T n.260A>T n.969A>T n.535-957A>T n.453-957A>T c.485-957A>T (n.485-957A>T) c.1101A>T n.545-957A>T c.385-957A>T n.727-957A>T c.3779A>T (p.Gln1260Leu) c.3698A>T (p.Gln1233Leu) c.3578A>T (p.Gln1193Leu) c.3572A>T (p.Gln1191Leu) c.3455A>T (p.Gln1152Leu) c.3452-957A>T (n.3452-957A>T) c.3326-957A>T (n.3326-957A>T) c.3320-957A>T (n.3320-957A>T) c.3194-957A>T (n.3194-957A>T) c.3056A>T (p.Gln1019Leu) c.3566A>T (p.Gln1189Leu) c.3440A>T (p.Gln1147Leu) c.3200-957A>T (n.3200-957A>T) | |
| 19 | g.40622648G>A | CA507685160 | LTBP4 | c.3465G>A (p.Gln1155=) c.3555G>A (p.Gln1185=) c.1664G>A c.3666G>A (p.Gln1222=) n.484-956G>A c.535-956G>A n.261G>A n.970G>A n.535-956G>A n.453-956G>A c.485-956G>A (n.485-956G>A) c.1102G>A n.545-956G>A c.385-956G>A n.727-956G>A c.3780G>A (p.Gln1260=) c.3699G>A (p.Gln1233=) c.3579G>A (p.Gln1193=) c.3573G>A (p.Gln1191=) c.3456G>A (p.Gln1152=) c.3452-956G>A (n.3452-956G>A) c.3326-956G>A (n.3326-956G>A) c.3320-956G>A (n.3320-956G>A) c.3194-956G>A (n.3194-956G>A) c.3057G>A (p.Gln1019=) c.3567G>A (p.Gln1189=) c.3441G>A (p.Gln1147=) c.3200-956G>A (n.3200-956G>A) | ClinVar gnomAD v4 |
| 19 | g.40622648G>C | CA405907078 | LTBP4 | c.3465G>C (p.Gln1155His) c.3555G>C (p.Gln1185His) c.1664G>C c.3666G>C (p.Gln1222His) n.484-956G>C c.535-956G>C n.261G>C n.970G>C n.535-956G>C n.453-956G>C c.485-956G>C (n.485-956G>C) c.1102G>C n.545-956G>C c.385-956G>C n.727-956G>C c.3780G>C (p.Gln1260His) c.3699G>C (p.Gln1233His) c.3579G>C (p.Gln1193His) c.3573G>C (p.Gln1191His) c.3456G>C (p.Gln1152His) c.3452-956G>C (n.3452-956G>C) c.3326-956G>C (n.3326-956G>C) c.3320-956G>C (n.3320-956G>C) c.3194-956G>C (n.3194-956G>C) c.3057G>C (p.Gln1019His) c.3567G>C (p.Gln1189His) c.3441G>C (p.Gln1147His) c.3200-956G>C (n.3200-956G>C) | |
| 19 | g.40622648G>T | CA405907079 | LTBP4 | c.3465G>T (p.Gln1155His) c.3555G>T (p.Gln1185His) c.1664G>T c.3666G>T (p.Gln1222His) n.484-956G>T c.535-956G>T n.261G>T n.970G>T n.535-956G>T n.453-956G>T c.485-956G>T (n.485-956G>T) c.1102G>T n.545-956G>T c.385-956G>T n.727-956G>T c.3780G>T (p.Gln1260His) c.3699G>T (p.Gln1233His) c.3579G>T (p.Gln1193His) c.3573G>T (p.Gln1191His) c.3456G>T (p.Gln1152His) c.3452-956G>T (n.3452-956G>T) c.3326-956G>T (n.3326-956G>T) c.3320-956G>T (n.3320-956G>T) c.3194-956G>T (n.3194-956G>T) c.3057G>T (p.Gln1019His) c.3567G>T (p.Gln1189His) c.3441G>T (p.Gln1147His) c.3200-956G>T (n.3200-956G>T) | |
| 19 | g.40622649T>A | CA405907082 | LTBP4 | c.3466T>A (p.Cys1156Ser) c.3556T>A (p.Cys1186Ser) c.1665T>A c.3667T>A (p.Cys1223Ser) n.484-955T>A c.535-955T>A n.262T>A n.971T>A n.535-955T>A n.453-955T>A c.485-955T>A (n.485-955T>A) c.1103T>A n.545-955T>A c.385-955T>A n.727-955T>A c.3781T>A (p.Cys1261Ser) c.3700T>A (p.Cys1234Ser) c.3580T>A (p.Cys1194Ser) c.3574T>A (p.Cys1192Ser) c.3457T>A (p.Cys1153Ser) c.3452-955T>A (n.3452-955T>A) c.3326-955T>A (n.3326-955T>A) c.3320-955T>A (n.3320-955T>A) c.3194-955T>A (n.3194-955T>A) c.3058T>A (p.Cys1020Ser) c.3568T>A (p.Cys1190Ser) c.3442T>A (p.Cys1148Ser) c.3200-955T>A (n.3200-955T>A) | |
| 19 | g.40622649T>C | CA405907083 | LTBP4 | c.3466T>C (p.Cys1156Arg) c.3556T>C (p.Cys1186Arg) c.1665T>C c.3667T>C (p.Cys1223Arg) n.484-955T>C c.535-955T>C n.262T>C n.971T>C n.535-955T>C n.453-955T>C c.485-955T>C (n.485-955T>C) c.1103T>C n.545-955T>C c.385-955T>C n.727-955T>C c.3781T>C (p.Cys1261Arg) c.3700T>C (p.Cys1234Arg) c.3580T>C (p.Cys1194Arg) c.3574T>C (p.Cys1192Arg) c.3457T>C (p.Cys1153Arg) c.3452-955T>C (n.3452-955T>C) c.3326-955T>C (n.3326-955T>C) c.3320-955T>C (n.3320-955T>C) c.3194-955T>C (n.3194-955T>C) c.3058T>C (p.Cys1020Arg) c.3568T>C (p.Cys1190Arg) c.3442T>C (p.Cys1148Arg) c.3200-955T>C (n.3200-955T>C) | |
| 19 | g.40622649T>G | CA405907085 | LTBP4 | c.3466T>G (p.Cys1156Gly) c.3556T>G (p.Cys1186Gly) c.1665T>G c.3667T>G (p.Cys1223Gly) n.484-955T>G c.535-955T>G n.262T>G n.971T>G n.535-955T>G n.453-955T>G c.485-955T>G (n.485-955T>G) c.1103T>G n.545-955T>G c.385-955T>G n.727-955T>G c.3781T>G (p.Cys1261Gly) c.3700T>G (p.Cys1234Gly) c.3580T>G (p.Cys1194Gly) c.3574T>G (p.Cys1192Gly) c.3457T>G (p.Cys1153Gly) c.3452-955T>G (n.3452-955T>G) c.3326-955T>G (n.3326-955T>G) c.3320-955T>G (n.3320-955T>G) c.3194-955T>G (n.3194-955T>G) c.3058T>G (p.Cys1020Gly) c.3568T>G (p.Cys1190Gly) c.3442T>G (p.Cys1148Gly) c.3200-955T>G (n.3200-955T>G) | |
| 19 | g.40622650G>A | CA405907090 | LTBP4 | c.3467G>A (p.Cys1156Tyr) c.3557G>A (p.Cys1186Tyr) c.1666G>A c.3668G>A (p.Cys1223Tyr) n.484-954G>A c.535-954G>A n.263G>A n.972G>A n.535-954G>A n.453-954G>A c.485-954G>A (n.485-954G>A) c.1104G>A n.545-954G>A c.385-954G>A n.727-954G>A c.3782G>A (p.Cys1261Tyr) c.3701G>A (p.Cys1234Tyr) c.3581G>A (p.Cys1194Tyr) c.3575G>A (p.Cys1192Tyr) c.3458G>A (p.Cys1153Tyr) c.3452-954G>A (n.3452-954G>A) c.3326-954G>A (n.3326-954G>A) c.3320-954G>A (n.3320-954G>A) c.3194-954G>A (n.3194-954G>A) c.3059G>A (p.Cys1020Tyr) c.3569G>A (p.Cys1190Tyr) c.3443G>A (p.Cys1148Tyr) c.3200-954G>A (n.3200-954G>A) | gnomAD v4 |
| 19 | g.40622650G>C | CA405907092 | LTBP4 | c.3467G>C (p.Cys1156Ser) c.3557G>C (p.Cys1186Ser) c.1666G>C c.3668G>C (p.Cys1223Ser) n.484-954G>C c.535-954G>C n.263G>C n.972G>C n.535-954G>C n.453-954G>C c.485-954G>C (n.485-954G>C) c.1104G>C n.545-954G>C c.385-954G>C n.727-954G>C c.3782G>C (p.Cys1261Ser) c.3701G>C (p.Cys1234Ser) c.3581G>C (p.Cys1194Ser) c.3575G>C (p.Cys1192Ser) c.3458G>C (p.Cys1153Ser) c.3452-954G>C (n.3452-954G>C) c.3326-954G>C (n.3326-954G>C) c.3320-954G>C (n.3320-954G>C) c.3194-954G>C (n.3194-954G>C) c.3059G>C (p.Cys1020Ser) c.3569G>C (p.Cys1190Ser) c.3443G>C (p.Cys1148Ser) c.3200-954G>C (n.3200-954G>C) | |
| 19 | g.40622650G>T | CA405907089 | LTBP4 | c.3467G>T (p.Cys1156Phe) c.3557G>T (p.Cys1186Phe) c.1666G>T c.3668G>T (p.Cys1223Phe) n.484-954G>T c.535-954G>T n.263G>T n.972G>T n.535-954G>T n.453-954G>T c.485-954G>T (n.485-954G>T) c.1104G>T n.545-954G>T c.385-954G>T n.727-954G>T c.3782G>T (p.Cys1261Phe) c.3701G>T (p.Cys1234Phe) c.3581G>T (p.Cys1194Phe) c.3575G>T (p.Cys1192Phe) c.3458G>T (p.Cys1153Phe) c.3452-954G>T (n.3452-954G>T) c.3326-954G>T (n.3326-954G>T) c.3320-954G>T (n.3320-954G>T) c.3194-954G>T (n.3194-954G>T) c.3059G>T (p.Cys1020Phe) c.3569G>T (p.Cys1190Phe) c.3443G>T (p.Cys1148Phe) c.3200-954G>T (n.3200-954G>T) | gnomAD v4 |
| 19 | g.40622651C>A | CA405907094 | LTBP4 | c.3468C>A (p.Cys1156Ter) c.3558C>A (p.Cys1186Ter) c.1667C>A c.3669C>A (p.Cys1223Ter) n.484-953C>A c.535-953C>A n.264C>A n.973C>A n.535-953C>A n.453-953C>A c.485-953C>A (n.485-953C>A) c.1105C>A n.545-953C>A c.385-953C>A n.727-953C>A c.3783C>A (p.Cys1261Ter) c.3702C>A (p.Cys1234Ter) c.3582C>A (p.Cys1194Ter) c.3576C>A (p.Cys1192Ter) c.3459C>A (p.Cys1153Ter) c.3452-953C>A (n.3452-953C>A) c.3326-953C>A (n.3326-953C>A) c.3320-953C>A (n.3320-953C>A) c.3194-953C>A (n.3194-953C>A) c.3060C>A (p.Cys1020Ter) c.3570C>A (p.Cys1190Ter) c.3444C>A (p.Cys1148Ter) c.3200-953C>A (n.3200-953C>A) | |
| 19 | g.40622651C= | CA2336068378 | LTBP4 | c.3468C= (p.Cys1156=) c.3558C= (p.Cys1186=) c.1667C= c.3669C= (p.Cys1223=) n.484-953C= c.535-953C= n.264C= n.973C= n.535-953C= n.453-953C= c.485-953C= (n.485-953C=) c.1105C= n.545-953C= c.385-953C= n.727-953C= c.3783C= (p.Cys1261=) c.3702C= (p.Cys1234=) c.3582C= (p.Cys1194=) c.3576C= (p.Cys1192=) c.3459C= (p.Cys1153=) c.3452-953C= (n.3452-953C=) c.3326-953C= (n.3326-953C=) c.3320-953C= (n.3320-953C=) c.3194-953C= (n.3194-953C=) c.3060C= (p.Cys1020=) c.3570C= (p.Cys1190=) c.3444C= (p.Cys1148=) c.3200-953C= (n.3200-953C=) | |
| 19 | g.40622651C>G | CA405907096 | LTBP4 | c.3468C>G (p.Cys1156Trp) c.3558C>G (p.Cys1186Trp) c.1667C>G c.3669C>G (p.Cys1223Trp) n.484-953C>G c.535-953C>G n.264C>G n.973C>G n.535-953C>G n.453-953C>G c.485-953C>G (n.485-953C>G) c.1105C>G n.545-953C>G c.385-953C>G n.727-953C>G c.3783C>G (p.Cys1261Trp) c.3702C>G (p.Cys1234Trp) c.3582C>G (p.Cys1194Trp) c.3576C>G (p.Cys1192Trp) c.3459C>G (p.Cys1153Trp) c.3452-953C>G (n.3452-953C>G) c.3326-953C>G (n.3326-953C>G) c.3320-953C>G (n.3320-953C>G) c.3194-953C>G (n.3194-953C>G) c.3060C>G (p.Cys1020Trp) c.3570C>G (p.Cys1190Trp) c.3444C>G (p.Cys1148Trp) c.3200-953C>G (n.3200-953C>G) | |
| 19 | g.40622651C>T | CA507685164 | LTBP4 | c.3468C>T (p.Cys1156=) c.3558C>T (p.Cys1186=) c.1667C>T c.3669C>T (p.Cys1223=) n.484-953C>T c.535-953C>T n.264C>T n.973C>T n.535-953C>T n.453-953C>T c.485-953C>T (n.485-953C>T) c.1105C>T n.545-953C>T c.385-953C>T n.727-953C>T c.3783C>T (p.Cys1261=) c.3702C>T (p.Cys1234=) c.3582C>T (p.Cys1194=) c.3576C>T (p.Cys1192=) c.3459C>T (p.Cys1153=) c.3452-953C>T (n.3452-953C>T) c.3326-953C>T (n.3326-953C>T) c.3320-953C>T (n.3320-953C>T) c.3194-953C>T (n.3194-953C>T) c.3060C>T (p.Cys1020=) c.3570C>T (p.Cys1190=) c.3444C>T (p.Cys1148=) c.3200-953C>T (n.3200-953C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40622652C>A | CA405907097 | LTBP4 | c.3469C>A (p.Pro1157Thr) c.3559C>A (p.Pro1187Thr) c.1668C>A c.3670C>A (p.Pro1224Thr) n.484-952C>A c.535-952C>A n.265C>A n.974C>A n.535-952C>A n.453-952C>A c.485-952C>A (n.485-952C>A) c.1106C>A n.545-952C>A c.385-952C>A n.727-952C>A c.3784C>A (p.Pro1262Thr) c.3703C>A (p.Pro1235Thr) c.3583C>A (p.Pro1195Thr) c.3577C>A (p.Pro1193Thr) c.3460C>A (p.Pro1154Thr) c.3452-952C>A (n.3452-952C>A) c.3326-952C>A (n.3326-952C>A) c.3320-952C>A (n.3320-952C>A) c.3194-952C>A (n.3194-952C>A) c.3061C>A (p.Pro1021Thr) c.3571C>A (p.Pro1191Thr) c.3445C>A (p.Pro1149Thr) c.3200-952C>A (n.3200-952C>A) | |
| 19 | g.40622652C>G | CA405907099 | LTBP4 | c.3469C>G (p.Pro1157Ala) c.3559C>G (p.Pro1187Ala) c.1668C>G c.3670C>G (p.Pro1224Ala) n.484-952C>G c.535-952C>G n.265C>G n.974C>G n.535-952C>G n.453-952C>G c.485-952C>G (n.485-952C>G) c.1106C>G n.545-952C>G c.385-952C>G n.727-952C>G c.3784C>G (p.Pro1262Ala) c.3703C>G (p.Pro1235Ala) c.3583C>G (p.Pro1195Ala) c.3577C>G (p.Pro1193Ala) c.3460C>G (p.Pro1154Ala) c.3452-952C>G (n.3452-952C>G) c.3326-952C>G (n.3326-952C>G) c.3320-952C>G (n.3320-952C>G) c.3194-952C>G (n.3194-952C>G) c.3061C>G (p.Pro1021Ala) c.3571C>G (p.Pro1191Ala) c.3445C>G (p.Pro1149Ala) c.3200-952C>G (n.3200-952C>G) | |
| 19 | g.40622652C>T | CA405907101 | LTBP4 | c.3469C>T (p.Pro1157Ser) c.3559C>T (p.Pro1187Ser) c.1668C>T c.3670C>T (p.Pro1224Ser) n.484-952C>T c.535-952C>T n.265C>T n.974C>T n.535-952C>T n.453-952C>T c.485-952C>T (n.485-952C>T) c.1106C>T n.545-952C>T c.385-952C>T n.727-952C>T c.3784C>T (p.Pro1262Ser) c.3703C>T (p.Pro1235Ser) c.3583C>T (p.Pro1195Ser) c.3577C>T (p.Pro1193Ser) c.3460C>T (p.Pro1154Ser) c.3452-952C>T (n.3452-952C>T) c.3326-952C>T (n.3326-952C>T) c.3320-952C>T (n.3320-952C>T) c.3194-952C>T (n.3194-952C>T) c.3061C>T (p.Pro1021Ser) c.3571C>T (p.Pro1191Ser) c.3445C>T (p.Pro1149Ser) c.3200-952C>T (n.3200-952C>T) | |
| 19 | g.40622653C>A | CA405907102 | LTBP4 | c.3470C>A (p.Pro1157Gln) c.3560C>A (p.Pro1187Gln) c.1669C>A c.3671C>A (p.Pro1224Gln) n.484-951C>A c.535-951C>A n.266C>A n.975C>A n.535-951C>A n.453-951C>A c.485-951C>A (n.485-951C>A) c.1107C>A n.545-951C>A c.385-951C>A n.727-951C>A c.3785C>A (p.Pro1262Gln) c.3704C>A (p.Pro1235Gln) c.3584C>A (p.Pro1195Gln) c.3578C>A (p.Pro1193Gln) c.3461C>A (p.Pro1154Gln) c.3452-951C>A (n.3452-951C>A) c.3326-951C>A (n.3326-951C>A) c.3320-951C>A (n.3320-951C>A) c.3194-951C>A (n.3194-951C>A) c.3062C>A (p.Pro1021Gln) c.3572C>A (p.Pro1191Gln) c.3446C>A (p.Pro1149Gln) c.3200-951C>A (n.3200-951C>A) | gnomAD v4 |
| 19 | g.40622653C= | CA2336068379 | LTBP4 | c.3470C= (p.Pro1157=) c.3560C= (p.Pro1187=) c.1669C= c.3671C= (p.Pro1224=) n.484-951C= c.535-951C= n.266C= n.975C= n.535-951C= n.453-951C= c.485-951C= (n.485-951C=) c.1107C= n.545-951C= c.385-951C= n.727-951C= c.3785C= (p.Pro1262=) c.3704C= (p.Pro1235=) c.3584C= (p.Pro1195=) c.3578C= (p.Pro1193=) c.3461C= (p.Pro1154=) c.3452-951C= (n.3452-951C=) c.3326-951C= (n.3326-951C=) c.3320-951C= (n.3320-951C=) c.3194-951C= (n.3194-951C=) c.3062C= (p.Pro1021=) c.3572C= (p.Pro1191=) c.3446C= (p.Pro1149=) c.3200-951C= (n.3200-951C=) | |
| 19 | g.40622653C>G | CA405907104 | LTBP4 | c.3470C>G (p.Pro1157Arg) c.3560C>G (p.Pro1187Arg) c.1669C>G c.3671C>G (p.Pro1224Arg) n.484-951C>G c.535-951C>G n.266C>G n.975C>G n.535-951C>G n.453-951C>G c.485-951C>G (n.485-951C>G) c.1107C>G n.545-951C>G c.385-951C>G n.727-951C>G c.3785C>G (p.Pro1262Arg) c.3704C>G (p.Pro1235Arg) c.3584C>G (p.Pro1195Arg) c.3578C>G (p.Pro1193Arg) c.3461C>G (p.Pro1154Arg) c.3452-951C>G (n.3452-951C>G) c.3326-951C>G (n.3326-951C>G) c.3320-951C>G (n.3320-951C>G) c.3194-951C>G (n.3194-951C>G) c.3062C>G (p.Pro1021Arg) c.3572C>G (p.Pro1191Arg) c.3446C>G (p.Pro1149Arg) c.3200-951C>G (n.3200-951C>G) | |
| 19 | g.40622653C>T | CA9449008 | LTBP4 | c.3470C>T (p.Pro1157Leu) c.3560C>T (p.Pro1187Leu) c.1669C>T c.3671C>T (p.Pro1224Leu) n.484-951C>T c.535-951C>T n.266C>T n.975C>T n.535-951C>T n.453-951C>T c.485-951C>T (n.485-951C>T) c.1107C>T n.545-951C>T c.385-951C>T n.727-951C>T c.3785C>T (p.Pro1262Leu) c.3704C>T (p.Pro1235Leu) c.3584C>T (p.Pro1195Leu) c.3578C>T (p.Pro1193Leu) c.3461C>T (p.Pro1154Leu) c.3452-951C>T (n.3452-951C>T) c.3326-951C>T (n.3326-951C>T) c.3320-951C>T (n.3320-951C>T) c.3194-951C>T (n.3194-951C>T) c.3062C>T (p.Pro1021Leu) c.3572C>T (p.Pro1191Leu) c.3446C>T (p.Pro1149Leu) c.3200-951C>T (n.3200-951C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40622654G>A | CA9449009 | LTBP4 | c.3471G>A (p.Pro1157=) c.3561G>A (p.Pro1187=) c.1670G>A c.3672G>A (p.Pro1224=) n.484-950G>A c.535-950G>A n.267G>A n.976G>A n.535-950G>A n.453-950G>A c.485-950G>A (n.485-950G>A) c.1108G>A n.545-950G>A c.385-950G>A n.727-950G>A c.3786G>A (p.Pro1262=) c.3705G>A (p.Pro1235=) c.3585G>A (p.Pro1195=) c.3579G>A (p.Pro1193=) c.3462G>A (p.Pro1154=) c.3452-950G>A (n.3452-950G>A) c.3326-950G>A (n.3326-950G>A) c.3320-950G>A (n.3320-950G>A) c.3194-950G>A (n.3194-950G>A) c.3063G>A (p.Pro1021=) c.3573G>A (p.Pro1191=) c.3447G>A (p.Pro1149=) c.3200-950G>A (n.3200-950G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40622654G>C | CA507685169 | LTBP4 | c.3471G>C (p.Pro1157=) c.3561G>C (p.Pro1187=) c.1670G>C c.3672G>C (p.Pro1224=) n.484-950G>C c.535-950G>C n.267G>C n.976G>C n.535-950G>C n.453-950G>C c.485-950G>C (n.485-950G>C) c.1108G>C n.545-950G>C c.385-950G>C n.727-950G>C c.3786G>C (p.Pro1262=) c.3705G>C (p.Pro1235=) c.3585G>C (p.Pro1195=) c.3579G>C (p.Pro1193=) c.3462G>C (p.Pro1154=) c.3452-950G>C (n.3452-950G>C) c.3326-950G>C (n.3326-950G>C) c.3320-950G>C (n.3320-950G>C) c.3194-950G>C (n.3194-950G>C) c.3063G>C (p.Pro1021=) c.3573G>C (p.Pro1191=) c.3447G>C (p.Pro1149=) c.3200-950G>C (n.3200-950G>C) | |
| 19 | g.40622654G= | CA2336068380 | LTBP4 | c.3471G= (p.Pro1157=) c.3561G= (p.Pro1187=) c.1670G= c.3672G= (p.Pro1224=) n.484-950G= c.535-950G= n.267G= n.976G= n.535-950G= n.453-950G= c.485-950G= (n.485-950G=) c.1108G= n.545-950G= c.385-950G= n.727-950G= c.3786G= (p.Pro1262=) c.3705G= (p.Pro1235=) c.3585G= (p.Pro1195=) c.3579G= (p.Pro1193=) c.3462G= (p.Pro1154=) c.3452-950G= (n.3452-950G=) c.3326-950G= (n.3326-950G=) c.3320-950G= (n.3320-950G=) c.3194-950G= (n.3194-950G=) c.3063G= (p.Pro1021=) c.3573G= (p.Pro1191=) c.3447G= (p.Pro1149=) c.3200-950G= (n.3200-950G=) | |
| 19 | g.40622654G>T | CA507685170 | LTBP4 | c.3471G>T (p.Pro1157=) c.3561G>T (p.Pro1187=) c.1670G>T c.3672G>T (p.Pro1224=) n.484-950G>T c.535-950G>T n.267G>T n.976G>T n.535-950G>T n.453-950G>T c.485-950G>T (n.485-950G>T) c.1108G>T n.545-950G>T c.385-950G>T n.727-950G>T c.3786G>T (p.Pro1262=) c.3705G>T (p.Pro1235=) c.3585G>T (p.Pro1195=) c.3579G>T (p.Pro1193=) c.3462G>T (p.Pro1154=) c.3452-950G>T (n.3452-950G>T) c.3326-950G>T (n.3326-950G>T) c.3320-950G>T (n.3320-950G>T) c.3194-950G>T (n.3194-950G>T) c.3063G>T (p.Pro1021=) c.3573G>T (p.Pro1191=) c.3447G>T (p.Pro1149=) c.3200-950G>T (n.3200-950G>T) | |
| 19 | g.40622656del | CA2585161820 | LTBP4 | c.3473del (p.Gly1158AlafsTer24) c.3563del (p.Gly1188AlafsTer24) c.1672del c.3674del (p.Gly1225AlafsTer24) n.484-948del c.535-948del n.269del n.978del n.535-948del n.453-948del c.485-948del (n.485-948del) c.1110del n.545-948del c.385-948del n.727-948del c.3788del (p.Gly1263AlafsTer24) c.3707del (p.Gly1236AlafsTer24) c.3707del (p.Gly1236AlafsTer23) c.3587del (p.Gly1196AlafsTer24) c.3581del (p.Gly1194AlafsTer24) c.3464del (p.Gly1155AlafsTer24) c.3452-948del (n.3452-948del) c.3326-948del (n.3326-948del) c.3320-948del (n.3320-948del) c.3194-948del (n.3194-948del) c.3065del (p.Gly1022AlafsTer24) c.3575del (p.Gly1192AlafsTer24) c.3449del (p.Gly1150AlafsTer24) c.3200-948del (n.3200-948del) | gnomAD v4 |
| 19 | g.40622655G>A | CA405907107 | LTBP4 | c.3472G>A (p.Gly1158Ser) c.3562G>A (p.Gly1188Ser) c.1671G>A c.3673G>A (p.Gly1225Ser) n.484-949G>A c.535-949G>A n.268G>A n.977G>A n.535-949G>A n.453-949G>A c.485-949G>A (n.485-949G>A) c.1109G>A n.545-949G>A c.385-949G>A n.727-949G>A c.3787G>A (p.Gly1263Ser) c.3706G>A (p.Gly1236Ser) c.3586G>A (p.Gly1196Ser) c.3580G>A (p.Gly1194Ser) c.3463G>A (p.Gly1155Ser) c.3452-949G>A (n.3452-949G>A) c.3326-949G>A (n.3326-949G>A) c.3320-949G>A (n.3320-949G>A) c.3194-949G>A (n.3194-949G>A) c.3064G>A (p.Gly1022Ser) c.3574G>A (p.Gly1192Ser) c.3448G>A (p.Gly1150Ser) c.3200-949G>A (n.3200-949G>A) | ClinVar gnomAD v4 |
| 19 | g.40622655G>C | CA405907108 | LTBP4 | c.3472G>C (p.Gly1158Arg) c.3562G>C (p.Gly1188Arg) c.1671G>C c.3673G>C (p.Gly1225Arg) n.484-949G>C c.535-949G>C n.268G>C n.977G>C n.535-949G>C n.453-949G>C c.485-949G>C (n.485-949G>C) c.1109G>C n.545-949G>C c.385-949G>C n.727-949G>C c.3787G>C (p.Gly1263Arg) c.3706G>C (p.Gly1236Arg) c.3586G>C (p.Gly1196Arg) c.3580G>C (p.Gly1194Arg) c.3463G>C (p.Gly1155Arg) c.3452-949G>C (n.3452-949G>C) c.3326-949G>C (n.3326-949G>C) c.3320-949G>C (n.3320-949G>C) c.3194-949G>C (n.3194-949G>C) c.3064G>C (p.Gly1022Arg) c.3574G>C (p.Gly1192Arg) c.3448G>C (p.Gly1150Arg) c.3200-949G>C (n.3200-949G>C) | |
| 19 | g.40622655G>T | CA405907110 | LTBP4 | c.3472G>T (p.Gly1158Cys) c.3562G>T (p.Gly1188Cys) c.1671G>T c.3673G>T (p.Gly1225Cys) n.484-949G>T c.535-949G>T n.268G>T n.977G>T n.535-949G>T n.453-949G>T c.485-949G>T (n.485-949G>T) c.1109G>T n.545-949G>T c.385-949G>T n.727-949G>T c.3787G>T (p.Gly1263Cys) c.3706G>T (p.Gly1236Cys) c.3586G>T (p.Gly1196Cys) c.3580G>T (p.Gly1194Cys) c.3463G>T (p.Gly1155Cys) c.3452-949G>T (n.3452-949G>T) c.3326-949G>T (n.3326-949G>T) c.3320-949G>T (n.3320-949G>T) c.3194-949G>T (n.3194-949G>T) c.3064G>T (p.Gly1022Cys) c.3574G>T (p.Gly1192Cys) c.3448G>T (p.Gly1150Cys) c.3200-949G>T (n.3200-949G>T) | gnomAD v4 |
| 19 | g.40622656G>A | CA405907115 | LTBP4 | c.3473G>A (p.Gly1158Asp) c.3563G>A (p.Gly1188Asp) c.1672G>A c.3674G>A (p.Gly1225Asp) n.484-948G>A c.535-948G>A n.269G>A n.978G>A n.535-948G>A n.453-948G>A c.485-948G>A (n.485-948G>A) c.1110G>A n.545-948G>A c.385-948G>A n.727-948G>A c.3788G>A (p.Gly1263Asp) c.3707G>A (p.Gly1236Asp) c.3587G>A (p.Gly1196Asp) c.3581G>A (p.Gly1194Asp) c.3464G>A (p.Gly1155Asp) c.3452-948G>A (n.3452-948G>A) c.3326-948G>A (n.3326-948G>A) c.3320-948G>A (n.3320-948G>A) c.3194-948G>A (n.3194-948G>A) c.3065G>A (p.Gly1022Asp) c.3575G>A (p.Gly1192Asp) c.3449G>A (p.Gly1150Asp) c.3200-948G>A (n.3200-948G>A) | |
| 19 | g.40622656G>C | CA405907111 | LTBP4 | c.3473G>C (p.Gly1158Ala) c.3563G>C (p.Gly1188Ala) c.1672G>C c.3674G>C (p.Gly1225Ala) n.484-948G>C c.535-948G>C n.269G>C n.978G>C n.535-948G>C n.453-948G>C c.485-948G>C (n.485-948G>C) c.1110G>C n.545-948G>C c.385-948G>C n.727-948G>C c.3788G>C (p.Gly1263Ala) c.3707G>C (p.Gly1236Ala) c.3587G>C (p.Gly1196Ala) c.3581G>C (p.Gly1194Ala) c.3464G>C (p.Gly1155Ala) c.3452-948G>C (n.3452-948G>C) c.3326-948G>C (n.3326-948G>C) c.3320-948G>C (n.3320-948G>C) c.3194-948G>C (n.3194-948G>C) c.3065G>C (p.Gly1022Ala) c.3575G>C (p.Gly1192Ala) c.3449G>C (p.Gly1150Ala) c.3200-948G>C (n.3200-948G>C) | |
| 19 | g.40622656G>T | CA405907113 | LTBP4 | c.3473G>T (p.Gly1158Val) c.3563G>T (p.Gly1188Val) c.1672G>T c.3674G>T (p.Gly1225Val) n.484-948G>T c.535-948G>T n.269G>T n.978G>T n.535-948G>T n.453-948G>T c.485-948G>T (n.485-948G>T) c.1110G>T n.545-948G>T c.385-948G>T n.727-948G>T c.3788G>T (p.Gly1263Val) c.3707G>T (p.Gly1236Val) c.3587G>T (p.Gly1196Val) c.3581G>T (p.Gly1194Val) c.3464G>T (p.Gly1155Val) c.3452-948G>T (n.3452-948G>T) c.3326-948G>T (n.3326-948G>T) c.3320-948G>T (n.3320-948G>T) c.3194-948G>T (n.3194-948G>T) c.3065G>T (p.Gly1022Val) c.3575G>T (p.Gly1192Val) c.3449G>T (p.Gly1150Val) c.3200-948G>T (n.3200-948G>T) | gnomAD v4 |
| 19 | g.40622657C>A | CA507685175 | LTBP4 | c.3474C>A (p.Gly1158=) c.3564C>A (p.Gly1188=) c.1673C>A c.3675C>A (p.Gly1225=) n.484-947C>A c.535-947C>A n.270C>A n.979C>A n.535-947C>A n.453-947C>A c.485-947C>A (n.485-947C>A) c.1111C>A n.545-947C>A c.385-947C>A n.727-947C>A c.3789C>A (p.Gly1263=) c.3708C>A (p.Gly1236=) c.3588C>A (p.Gly1196=) c.3582C>A (p.Gly1194=) c.3465C>A (p.Gly1155=) c.3452-947C>A (n.3452-947C>A) c.3326-947C>A (n.3326-947C>A) c.3320-947C>A (n.3320-947C>A) c.3194-947C>A (n.3194-947C>A) c.3066C>A (p.Gly1022=) c.3576C>A (p.Gly1192=) c.3450C>A (p.Gly1150=) c.3200-947C>A (n.3200-947C>A) | gnomAD v4 |
| 19 | g.40622657C>G | CA507685176 | LTBP4 | c.3474C>G (p.Gly1158=) c.3564C>G (p.Gly1188=) c.1673C>G c.3675C>G (p.Gly1225=) n.484-947C>G c.535-947C>G n.270C>G n.979C>G n.535-947C>G n.453-947C>G c.485-947C>G (n.485-947C>G) c.1111C>G n.545-947C>G c.385-947C>G n.727-947C>G c.3789C>G (p.Gly1263=) c.3708C>G (p.Gly1236=) c.3588C>G (p.Gly1196=) c.3582C>G (p.Gly1194=) c.3465C>G (p.Gly1155=) c.3452-947C>G (n.3452-947C>G) c.3326-947C>G (n.3326-947C>G) c.3320-947C>G (n.3320-947C>G) c.3194-947C>G (n.3194-947C>G) c.3066C>G (p.Gly1022=) c.3576C>G (p.Gly1192=) c.3450C>G (p.Gly1150=) c.3200-947C>G (n.3200-947C>G) | |
| 19 | g.40622657C>T | CA507685177 | LTBP4 | c.3474C>T (p.Gly1158=) c.3564C>T (p.Gly1188=) c.1673C>T c.3675C>T (p.Gly1225=) n.484-947C>T c.535-947C>T n.270C>T n.979C>T n.535-947C>T n.453-947C>T c.485-947C>T (n.485-947C>T) c.1111C>T n.545-947C>T c.385-947C>T n.727-947C>T c.3789C>T (p.Gly1263=) c.3708C>T (p.Gly1236=) c.3588C>T (p.Gly1196=) c.3582C>T (p.Gly1194=) c.3465C>T (p.Gly1155=) c.3452-947C>T (n.3452-947C>T) c.3326-947C>T (n.3326-947C>T) c.3320-947C>T (n.3320-947C>T) c.3194-947C>T (n.3194-947C>T) c.3066C>T (p.Gly1022=) c.3576C>T (p.Gly1192=) c.3450C>T (p.Gly1150=) c.3200-947C>T (n.3200-947C>T) | gnomAD v4 |
| 19 | g.40622658A= | CA2336068381 | LTBP4 | c.3475A= (p.Thr1159=) c.3565A= (p.Thr1189=) c.1674A= c.3676A= (p.Thr1226=) n.484-946A= c.535-946A= n.271A= n.980A= n.535-946A= n.453-946A= c.485-946A= (n.485-946A=) c.1112A= n.545-946A= c.385-946A= n.727-946A= c.3790A= (p.Thr1264=) c.3709A= (p.Thr1237=) c.3589A= (p.Thr1197=) c.3583A= (p.Thr1195=) c.3466A= (p.Thr1156=) c.3452-946A= (n.3452-946A=) c.3326-946A= (n.3326-946A=) c.3320-946A= (n.3320-946A=) c.3194-946A= (n.3194-946A=) c.3067A= (p.Thr1023=) c.3577A= (p.Thr1193=) c.3451A= (p.Thr1151=) c.3200-946A= (n.3200-946A=) | |
| 19 | g.40622658A>C | CA405907117 | LTBP4 | c.3475A>C (p.Thr1159Pro) c.3565A>C (p.Thr1189Pro) c.1674A>C c.3676A>C (p.Thr1226Pro) n.484-946A>C c.535-946A>C n.271A>C n.980A>C n.535-946A>C n.453-946A>C c.485-946A>C (n.485-946A>C) c.1112A>C n.545-946A>C c.385-946A>C n.727-946A>C c.3790A>C (p.Thr1264Pro) c.3709A>C (p.Thr1237Pro) c.3589A>C (p.Thr1197Pro) c.3583A>C (p.Thr1195Pro) c.3466A>C (p.Thr1156Pro) c.3452-946A>C (n.3452-946A>C) c.3326-946A>C (n.3326-946A>C) c.3320-946A>C (n.3320-946A>C) c.3194-946A>C (n.3194-946A>C) c.3067A>C (p.Thr1023Pro) c.3577A>C (p.Thr1193Pro) c.3451A>C (p.Thr1151Pro) c.3200-946A>C (n.3200-946A>C) | |
| 19 | g.40622658A>G | CA9449010 | LTBP4 | c.3475A>G (p.Thr1159Ala) c.3565A>G (p.Thr1189Ala) c.1674A>G c.3676A>G (p.Thr1226Ala) n.484-946A>G c.535-946A>G n.271A>G n.980A>G n.535-946A>G n.453-946A>G c.485-946A>G (n.485-946A>G) c.1112A>G n.545-946A>G c.385-946A>G n.727-946A>G c.3790A>G (p.Thr1264Ala) c.3709A>G (p.Thr1237Ala) c.3589A>G (p.Thr1197Ala) c.3583A>G (p.Thr1195Ala) c.3466A>G (p.Thr1156Ala) c.3452-946A>G (n.3452-946A>G) c.3326-946A>G (n.3326-946A>G) c.3320-946A>G (n.3320-946A>G) c.3194-946A>G (n.3194-946A>G) c.3067A>G (p.Thr1023Ala) c.3577A>G (p.Thr1193Ala) c.3451A>G (p.Thr1151Ala) c.3200-946A>G (n.3200-946A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40622658A>T | CA405907118 | LTBP4 | c.3475A>T (p.Thr1159Ser) c.3565A>T (p.Thr1189Ser) c.1674A>T c.3676A>T (p.Thr1226Ser) n.484-946A>T c.535-946A>T n.271A>T n.980A>T n.535-946A>T n.453-946A>T c.485-946A>T (n.485-946A>T) c.1112A>T n.545-946A>T c.385-946A>T n.727-946A>T c.3790A>T (p.Thr1264Ser) c.3709A>T (p.Thr1237Ser) c.3589A>T (p.Thr1197Ser) c.3583A>T (p.Thr1195Ser) c.3466A>T (p.Thr1156Ser) c.3452-946A>T (n.3452-946A>T) c.3326-946A>T (n.3326-946A>T) c.3320-946A>T (n.3320-946A>T) c.3194-946A>T (n.3194-946A>T) c.3067A>T (p.Thr1023Ser) c.3577A>T (p.Thr1193Ser) c.3451A>T (p.Thr1151Ser) c.3200-946A>T (n.3200-946A>T) | |
| 19 | g.40622659C>A | CA405907119 | LTBP4 | c.3476C>A (p.Thr1159Asn) c.3566C>A (p.Thr1189Asn) c.1675C>A c.3677C>A (p.Thr1226Asn) n.484-945C>A c.535-945C>A n.272C>A n.981C>A n.535-945C>A n.453-945C>A c.485-945C>A (n.485-945C>A) c.1113C>A n.545-945C>A c.385-945C>A n.727-945C>A c.3791C>A (p.Thr1264Asn) c.3710C>A (p.Thr1237Asn) c.3590C>A (p.Thr1197Asn) c.3584C>A (p.Thr1195Asn) c.3467C>A (p.Thr1156Asn) c.3452-945C>A (n.3452-945C>A) c.3326-945C>A (n.3326-945C>A) c.3320-945C>A (n.3320-945C>A) c.3194-945C>A (n.3194-945C>A) c.3068C>A (p.Thr1023Asn) c.3578C>A (p.Thr1193Asn) c.3452C>A (p.Thr1151Asn) c.3200-945C>A (n.3200-945C>A) | |
| 19 | g.40622659C>G | CA405907120 | LTBP4 | c.3476C>G (p.Thr1159Ser) c.3566C>G (p.Thr1189Ser) c.1675C>G c.3677C>G (p.Thr1226Ser) n.484-945C>G c.535-945C>G n.272C>G n.981C>G n.535-945C>G n.453-945C>G c.485-945C>G (n.485-945C>G) c.1113C>G n.545-945C>G c.385-945C>G n.727-945C>G c.3791C>G (p.Thr1264Ser) c.3710C>G (p.Thr1237Ser) c.3590C>G (p.Thr1197Ser) c.3584C>G (p.Thr1195Ser) c.3467C>G (p.Thr1156Ser) c.3452-945C>G (n.3452-945C>G) c.3326-945C>G (n.3326-945C>G) c.3320-945C>G (n.3320-945C>G) c.3194-945C>G (n.3194-945C>G) c.3068C>G (p.Thr1023Ser) c.3578C>G (p.Thr1193Ser) c.3452C>G (p.Thr1151Ser) c.3200-945C>G (n.3200-945C>G) | |
| 19 | g.40622659C>T | CA405907121 | LTBP4 | c.3476C>T (p.Thr1159Ile) c.3566C>T (p.Thr1189Ile) c.1675C>T c.3677C>T (p.Thr1226Ile) n.484-945C>T c.535-945C>T n.272C>T n.981C>T n.535-945C>T n.453-945C>T c.485-945C>T (n.485-945C>T) c.1113C>T n.545-945C>T c.385-945C>T n.727-945C>T c.3791C>T (p.Thr1264Ile) c.3710C>T (p.Thr1237Ile) c.3590C>T (p.Thr1197Ile) c.3584C>T (p.Thr1195Ile) c.3467C>T (p.Thr1156Ile) c.3452-945C>T (n.3452-945C>T) c.3326-945C>T (n.3326-945C>T) c.3320-945C>T (n.3320-945C>T) c.3194-945C>T (n.3194-945C>T) c.3068C>T (p.Thr1023Ile) c.3578C>T (p.Thr1193Ile) c.3452C>T (p.Thr1151Ile) c.3200-945C>T (n.3200-945C>T) | |
| 19 | g.40622660C>A | CA507685183 | LTBP4 | c.3477C>A (p.Thr1159=) c.3567C>A (p.Thr1189=) c.1676C>A c.3678C>A (p.Thr1226=) n.484-944C>A c.535-944C>A n.273C>A n.982C>A n.535-944C>A n.453-944C>A c.485-944C>A (n.485-944C>A) c.1114C>A n.545-944C>A c.385-944C>A n.727-944C>A c.3792C>A (p.Thr1264=) c.3711C>A (p.Thr1237=) c.3591C>A (p.Thr1197=) c.3585C>A (p.Thr1195=) c.3468C>A (p.Thr1156=) c.3452-944C>A (n.3452-944C>A) c.3326-944C>A (n.3326-944C>A) c.3320-944C>A (n.3320-944C>A) c.3194-944C>A (n.3194-944C>A) c.3069C>A (p.Thr1023=) c.3579C>A (p.Thr1193=) c.3453C>A (p.Thr1151=) c.3200-944C>A (n.3200-944C>A) | gnomAD v4 |
| 19 | g.40622660C= | CA2336068382 | LTBP4 | c.3477C= (p.Thr1159=) c.3567C= (p.Thr1189=) c.1676C= c.3678C= (p.Thr1226=) n.484-944C= c.535-944C= n.273C= n.982C= n.535-944C= n.453-944C= c.485-944C= (n.485-944C=) c.1114C= n.545-944C= c.385-944C= n.727-944C= c.3792C= (p.Thr1264=) c.3711C= (p.Thr1237=) c.3591C= (p.Thr1197=) c.3585C= (p.Thr1195=) c.3468C= (p.Thr1156=) c.3452-944C= (n.3452-944C=) c.3326-944C= (n.3326-944C=) c.3320-944C= (n.3320-944C=) c.3194-944C= (n.3194-944C=) c.3069C= (p.Thr1023=) c.3579C= (p.Thr1193=) c.3453C= (p.Thr1151=) c.3200-944C= (n.3200-944C=) | |
| 19 | g.40622660C>G | CA507685184 | LTBP4 | c.3477C>G (p.Thr1159=) c.3567C>G (p.Thr1189=) c.1676C>G c.3678C>G (p.Thr1226=) n.484-944C>G c.535-944C>G n.273C>G n.982C>G n.535-944C>G n.453-944C>G c.485-944C>G (n.485-944C>G) c.1114C>G n.545-944C>G c.385-944C>G n.727-944C>G c.3792C>G (p.Thr1264=) c.3711C>G (p.Thr1237=) c.3591C>G (p.Thr1197=) c.3585C>G (p.Thr1195=) c.3468C>G (p.Thr1156=) c.3452-944C>G (n.3452-944C>G) c.3326-944C>G (n.3326-944C>G) c.3320-944C>G (n.3320-944C>G) c.3194-944C>G (n.3194-944C>G) c.3069C>G (p.Thr1023=) c.3579C>G (p.Thr1193=) c.3453C>G (p.Thr1151=) c.3200-944C>G (n.3200-944C>G) | dbSNP |
| 19 | g.40622660C>T | CA9449011 | LTBP4 | c.3477C>T (p.Thr1159=) c.3567C>T (p.Thr1189=) c.1676C>T c.3678C>T (p.Thr1226=) n.484-944C>T c.535-944C>T n.273C>T n.982C>T n.535-944C>T n.453-944C>T c.485-944C>T (n.485-944C>T) c.1114C>T n.545-944C>T c.385-944C>T n.727-944C>T c.3792C>T (p.Thr1264=) c.3711C>T (p.Thr1237=) c.3591C>T (p.Thr1197=) c.3585C>T (p.Thr1195=) c.3468C>T (p.Thr1156=) c.3452-944C>T (n.3452-944C>T) c.3326-944C>T (n.3326-944C>T) c.3320-944C>T (n.3320-944C>T) c.3194-944C>T (n.3194-944C>T) c.3069C>T (p.Thr1023=) c.3579C>T (p.Thr1193=) c.3453C>T (p.Thr1151=) c.3200-944C>T (n.3200-944C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |