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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.54627664T>A | CA370997259 | RP1 | c.3782T>A (p.Met1261Lys) c.787+5376T>A (n.787+5376T>A) c.3803T>A (p.Met1268Lys) | |
| 8 | g.54627664T>C | CA370997260 | RP1 | c.3782T>C (p.Met1261Thr) c.787+5376T>C (n.787+5376T>C) c.3803T>C (p.Met1268Thr) | |
| 8 | g.54627664T>G | CA370997261 | RP1 | c.3782T>G (p.Met1261Arg) c.787+5376T>G (n.787+5376T>G) c.3803T>G (p.Met1268Arg) | |
| 8 | g.54627665G>A | CA4751747 | RP1 | c.3783G>A (p.Met1261Ile) c.787+5377G>A (n.787+5377G>A) c.3804G>A (p.Met1268Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54627665G>C | CA370997262 | RP1 | c.3783G>C (p.Met1261Ile) c.787+5377G>C (n.787+5377G>C) c.3804G>C (p.Met1268Ile) | |
| 8 | g.54627665G= | CA1785188836 | RP1 | c.3783G= (p.Met1261=) c.787+5377G= (n.787+5377G=) c.3804G= (p.Met1268=) | |
| 8 | g.54627665G>T | CA370997263 | RP1 | c.3783G>T (p.Met1261Ile) c.787+5377G>T (n.787+5377G>T) c.3804G>T (p.Met1268Ile) | |
| 8 | g.54627666T>A | CA370997264 | RP1 | c.3784T>A (p.Cys1262Ser) c.787+5378T>A (n.787+5378T>A) c.3805T>A (p.Cys1269Ser) | |
| 8 | g.54627666T>C | CA370997265 | RP1 | c.3784T>C (p.Cys1262Arg) c.787+5378T>C (n.787+5378T>C) c.3805T>C (p.Cys1269Arg) | dbSNP |
| 8 | g.54627666T>G | CA370997266 | RP1 | c.3784T>G (p.Cys1262Gly) c.787+5378T>G (n.787+5378T>G) c.3805T>G (p.Cys1269Gly) | |
| 8 | g.54627666T= | CA1785188837 | RP1 | c.3784T= (p.Cys1262=) c.787+5378T= (n.787+5378T=) c.3805T= (p.Cys1269=) | |
| 8 | g.54627667G>A | CA370997269 | RP1 | c.3785G>A (p.Cys1262Tyr) c.787+5379G>A (n.787+5379G>A) c.3806G>A (p.Cys1269Tyr) | dbSNP |
| 8 | g.54627667G>C | CA370997268 | RP1 | c.3785G>C (p.Cys1262Ser) c.787+5379G>C (n.787+5379G>C) c.3806G>C (p.Cys1269Ser) | |
| 8 | g.54627667G= | CA1785188838 | RP1 | c.3785G= (p.Cys1262=) c.787+5379G= (n.787+5379G=) c.3806G= (p.Cys1269=) | |
| 8 | g.54627667G>T | CA370997267 | RP1 | c.3785G>T (p.Cys1262Phe) c.787+5379G>T (n.787+5379G>T) c.3806G>T (p.Cys1269Phe) | |
| 8 | g.54627668C>A | CA370997270 | RP1 | c.3786C>A (p.Cys1262Ter) c.787+5380C>A (n.787+5380C>A) c.3807C>A (p.Cys1269Ter) | |
| 8 | g.54627668C= | CA1785188839 | RP1 | c.3786C= (p.Cys1262=) c.787+5380C= (n.787+5380C=) c.3807C= (p.Cys1269=) | |
| 8 | g.54627668C>G | CA370997271 | RP1 | c.3786C>G (p.Cys1262Trp) c.787+5380C>G (n.787+5380C>G) c.3807C>G (p.Cys1269Trp) | |
| 8 | g.54627668C>T | CA461099683 | RP1 | c.3786C>T (p.Cys1262=) c.787+5380C>T (n.787+5380C>T) c.3807C>T (p.Cys1269=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627669A= | CA1785188840 | RP1 | c.3787A= (p.Thr1263=) c.787+5381A= (n.787+5381A=) c.3808A= (p.Thr1270=) | |
| 8 | g.54627669A>C | CA370997272 | RP1 | c.3787A>C (p.Thr1263Pro) c.787+5381A>C (n.787+5381A>C) c.3808A>C (p.Thr1270Pro) | dbSNP gnomAD v4 |
| 8 | g.54627669A>G | CA370997273 | RP1 | c.3787A>G (p.Thr1263Ala) c.787+5381A>G (n.787+5381A>G) c.3808A>G (p.Thr1270Ala) | gnomAD v4 |
| 8 | g.54627669A>T | CA370997274 | RP1 | c.3787A>T (p.Thr1263Ser) c.787+5381A>T (n.787+5381A>T) c.3808A>T (p.Thr1270Ser) | |
| 8 | g.54627670C>A | CA370997275 | RP1 | c.3788C>A (p.Thr1263Asn) c.787+5382C>A (n.787+5382C>A) c.3809C>A (p.Thr1270Asn) | |
| 8 | g.54627670C= | CA1785188841 | RP1 | c.3788C= (p.Thr1263=) c.787+5382C= (n.787+5382C=) c.3809C= (p.Thr1270=) | |
| 8 | g.54627670C>G | CA370997276 | RP1 | c.3788C>G (p.Thr1263Ser) c.787+5382C>G (n.787+5382C>G) c.3809C>G (p.Thr1270Ser) | |
| 8 | g.54627670C>T | CA4751748 | RP1 | c.3788C>T (p.Thr1263Ile) c.787+5382C>T (n.787+5382C>T) c.3809C>T (p.Thr1270Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627672_54627683del | CA2780387038 | RP1 | c.3790_3801del (p.Val1264_Ala1267del) c.787+5384_787+5395del (n.787+5384_787+5395del) c.3811_3822del (p.Val1271_Ala1274del) | |
| 8 | g.54627671T>A | CA461099686 | RP1 | c.3789T>A (p.Thr1263=) c.787+5383T>A (n.787+5383T>A) c.3810T>A (p.Thr1270=) | |
| 8 | g.54627671T>C | CA461099687 | RP1 | c.3789T>C (p.Thr1263=) c.787+5383T>C (n.787+5383T>C) c.3810T>C (p.Thr1270=) | gnomAD v4 |
| 8 | g.54627671T>G | CA461099688 | RP1 | c.3789T>G (p.Thr1263=) c.787+5383T>G (n.787+5383T>G) c.3810T>G (p.Thr1270=) | |
| 8 | g.54627672_54627673del | CA2580652603 | RP1 | c.3790_3791del (p.Val1264LysfsTer2) c.787+5384_787+5385del (n.787+5384_787+5385del) c.3811_3812del (p.Val1271LysfsTer2) | ClinVar |
| 8 | g.54627672G>A | CA370997277 | RP1 | c.3790G>A (p.Val1264Ile) c.787+5384G>A (n.787+5384G>A) c.3811G>A (p.Val1271Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627672G>C | CA370997278 | RP1 | c.3790G>C (p.Val1264Leu) c.787+5384G>C (n.787+5384G>C) c.3811G>C (p.Val1271Leu) | gnomAD v4 |
| 8 | g.54627672G= | CA1785188842 | RP1 | c.3790G= (p.Val1264=) c.787+5384G= (n.787+5384G=) c.3811G= (p.Val1271=) | |
| 8 | g.54627672G>T | CA370997279 | RP1 | c.3790G>T (p.Val1264Leu) c.787+5384G>T (n.787+5384G>T) c.3811G>T (p.Val1271Leu) | |
| 8 | g.54627673T>A | CA370997280 | RP1 | c.3791T>A (p.Val1264Glu) c.787+5385T>A (n.787+5385T>A) c.3812T>A (p.Val1271Glu) | COSMIC |
| 8 | g.54627673T>C | CA370997281 | RP1 | c.3791T>C (p.Val1264Ala) c.787+5385T>C (n.787+5385T>C) c.3812T>C (p.Val1271Ala) | COSMIC |
| 8 | g.54627673T>G | CA370997282 | RP1 | c.3791T>G (p.Val1264Gly) c.787+5385T>G (n.787+5385T>G) c.3812T>G (p.Val1271Gly) | |
| 8 | g.54627674A>C | CA461099691 | RP1 | c.3792A>C (p.Val1264=) c.787+5386A>C (n.787+5386A>C) c.3813A>C (p.Val1271=) | |
| 8 | g.54627674A>G | CA461099692 | RP1 | c.3792A>G (p.Val1264=) c.787+5386A>G (n.787+5386A>G) c.3813A>G (p.Val1271=) | |
| 8 | g.54627674A>T | CA461099693 | RP1 | c.3792A>T (p.Val1264=) c.787+5386A>T (n.787+5386A>T) c.3813A>T (p.Val1271=) | |
| 8 | g.54627675A>C | CA370997284 | RP1 | c.3793A>C (p.Asn1265His) c.787+5387A>C (n.787+5387A>C) c.3814A>C (p.Asn1272His) | |
| 8 | g.54627675A>G | CA370997285 | RP1 | c.3793A>G (p.Asn1265Asp) c.787+5387A>G (n.787+5387A>G) c.3814A>G (p.Asn1272Asp) | |
| 8 | g.54627675A>T | CA370997283 | RP1 | c.3793A>T (p.Asn1265Tyr) c.787+5387A>T (n.787+5387A>T) c.3814A>T (p.Asn1272Tyr) | |
| 8 | g.54627676A>C | CA370997286 | RP1 | c.3794A>C (p.Asn1265Thr) c.787+5388A>C (n.787+5388A>C) c.3815A>C (p.Asn1272Thr) | |
| 8 | g.54627676A>G | CA370997287 | RP1 | c.3794A>G (p.Asn1265Ser) c.787+5388A>G (n.787+5388A>G) c.3815A>G (p.Asn1272Ser) | gnomAD v4 |
| 8 | g.54627676A>T | CA370997288 | RP1 | c.3794A>T (p.Asn1265Ile) c.787+5388A>T (n.787+5388A>T) c.3815A>T (p.Asn1272Ile) | |
| 8 | g.54627677T>A | CA370997289 | RP1 | c.3795T>A (p.Asn1265Lys) c.787+5389T>A (n.787+5389T>A) c.3816T>A (p.Asn1272Lys) | |
| 8 | g.54627677T>C | CA461099695 | RP1 | c.3795T>C (p.Asn1265=) c.787+5389T>C (n.787+5389T>C) c.3816T>C (p.Asn1272=) | |
| 8 | g.54627677T>G | CA370997290 | RP1 | c.3795T>G (p.Asn1265Lys) c.787+5389T>G (n.787+5389T>G) c.3816T>G (p.Asn1272Lys) | |
| 8 | g.54627678A= | CA1785188843 | RP1 | c.3796A= (p.Lys1266=) c.787+5390A= (n.787+5390A=) c.3817A= (p.Lys1273=) | |
| 8 | g.54627678A>C | CA370997291 | RP1 | c.3796A>C (p.Lys1266Gln) c.787+5390A>C (n.787+5390A>C) c.3817A>C (p.Lys1273Gln) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54627678A>G | CA370997292 | RP1 | c.3796A>G (p.Lys1266Glu) c.787+5390A>G (n.787+5390A>G) c.3817A>G (p.Lys1273Glu) | |
| 8 | g.54627678A>T | CA370997293 | RP1 | c.3796A>T (p.Lys1266Ter) c.787+5390A>T (n.787+5390A>T) c.3817A>T (p.Lys1273Ter) | gnomAD v4 |
| 8 | g.54627679del | CA2573143176 | RP1 | c.3797del (p.Lys1266ArgfsTer28) c.787+5391del (n.787+5391del) c.3818del (p.Lys1273ArgfsTer28) | ClinVar dbSNP |
| 8 | g.54627679A>C | CA370997294 | RP1 | c.3797A>C (p.Lys1266Thr) c.787+5391A>C (n.787+5391A>C) c.3818A>C (p.Lys1273Thr) | |
| 8 | g.54627679A>G | CA370997295 | RP1 | c.3797A>G (p.Lys1266Arg) c.787+5391A>G (n.787+5391A>G) c.3818A>G (p.Lys1273Arg) | |
| 8 | g.54627679A>T | CA370997296 | RP1 | c.3797A>T (p.Lys1266Met) c.787+5391A>T (n.787+5391A>T) c.3818A>T (p.Lys1273Met) | |
| 8 | g.54627680G>A | CA461099699 | RP1 | c.3798G>A (p.Lys1266=) c.787+5392G>A (n.787+5392G>A) c.3819G>A (p.Lys1273=) | |
| 8 | g.54627680G>C | CA370997297 | RP1 | c.3798G>C (p.Lys1266Asn) c.787+5392G>C (n.787+5392G>C) c.3819G>C (p.Lys1273Asn) | |
| 8 | g.54627680G>T | CA370997298 | RP1 | c.3798G>T (p.Lys1266Asn) c.787+5392G>T (n.787+5392G>T) c.3819G>T (p.Lys1273Asn) | |
| 8 | g.54627681G>A | CA370997301 | RP1 | c.3799G>A (p.Ala1267Thr) c.787+5393G>A (n.787+5393G>A) c.3820G>A (p.Ala1274Thr) | COSMIC |
| 8 | g.54627681G>C | CA370997299 | RP1 | c.3799G>C (p.Ala1267Pro) c.787+5393G>C (n.787+5393G>C) c.3820G>C (p.Ala1274Pro) | |
| 8 | g.54627681G>T | CA370997300 | RP1 | c.3799G>T (p.Ala1267Ser) c.787+5393G>T (n.787+5393G>T) c.3820G>T (p.Ala1274Ser) | gnomAD v4 |
| 8 | g.54627682C>A | CA4751749 | RP1 | c.3800C>A (p.Ala1267Asp) c.787+5394C>A (n.787+5394C>A) c.3821C>A (p.Ala1274Asp) | ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.54627682C= | CA1785188844 | RP1 | c.3800C= (p.Ala1267=) c.787+5394C= (n.787+5394C=) c.3821C= (p.Ala1274=) | |
| 8 | g.54627682C>G | CA370997302 | RP1 | c.3800C>G (p.Ala1267Gly) c.787+5394C>G (n.787+5394C>G) c.3821C>G (p.Ala1274Gly) | |
| 8 | g.54627682C>T | CA370997303 | RP1 | c.3800C>T (p.Ala1267Val) c.787+5394C>T (n.787+5394C>T) c.3821C>T (p.Ala1274Val) | |
| 8 | g.54627683T>A | CA461099703 | RP1 | c.3801T>A (p.Ala1267=) c.787+5395T>A (n.787+5395T>A) c.3822T>A (p.Ala1274=) | |
| 8 | g.54627683T>C | CA461099704 | RP1 | c.3801T>C (p.Ala1267=) c.787+5395T>C (n.787+5395T>C) c.3822T>C (p.Ala1274=) | |
| 8 | g.54627683T>G | CA461099705 | RP1 | c.3801T>G (p.Ala1267=) c.787+5395T>G (n.787+5395T>G) c.3822T>G (p.Ala1274=) | |
| 8 | g.54627684T>A | CA370997304 | RP1 | c.3802T>A (p.Tyr1268Asn) c.787+5396T>A (n.787+5396T>A) c.3823T>A (p.Tyr1275Asn) | |
| 8 | g.54627684T>C | CA370997305 | RP1 | c.3802T>C (p.Tyr1268His) c.787+5396T>C (n.787+5396T>C) c.3823T>C (p.Tyr1275His) | |
| 8 | g.54627684T>G | CA370997306 | RP1 | c.3802T>G (p.Tyr1268Asp) c.787+5396T>G (n.787+5396T>G) c.3823T>G (p.Tyr1275Asp) | |
| 8 | g.54627685A>C | CA370997307 | RP1 | c.3803A>C (p.Tyr1268Ser) c.787+5397A>C (n.787+5397A>C) c.3824A>C (p.Tyr1275Ser) | |
| 8 | g.54627685A>G | CA370997308 | RP1 | c.3803A>G (p.Tyr1268Cys) c.787+5397A>G (n.787+5397A>G) c.3824A>G (p.Tyr1275Cys) | gnomAD v3 gnomAD v4 |
| 8 | g.54627685A>T | CA370997309 | RP1 | c.3803A>T (p.Tyr1268Phe) c.787+5397A>T (n.787+5397A>T) c.3824A>T (p.Tyr1275Phe) | |
| 8 | g.54627686T>A | CA370997310 | RP1 | c.3804T>A (p.Tyr1268Ter) c.787+5398T>A (n.787+5398T>A) c.3825T>A (p.Tyr1275Ter) | |
| 8 | g.54627686T>C | CA461099709 | RP1 | c.3804T>C (p.Tyr1268=) c.787+5398T>C (n.787+5398T>C) c.3825T>C (p.Tyr1275=) | |
| 8 | g.54627686T>G | CA370997311 | RP1 | c.3804T>G (p.Tyr1268Ter) c.787+5398T>G (n.787+5398T>G) c.3825T>G (p.Tyr1275Ter) | |
| 8 | g.54627687T>A | CA370997314 | RP1 | c.3805T>A (p.Ser1269Thr) c.787+5399T>A (n.787+5399T>A) c.3826T>A (p.Ser1276Thr) | |
| 8 | g.54627687T>C | CA370997313 | RP1 | c.3805T>C (p.Ser1269Pro) c.787+5399T>C (n.787+5399T>C) c.3826T>C (p.Ser1276Pro) | |
| 8 | g.54627687T>G | CA370997312 | RP1 | c.3805T>G (p.Ser1269Ala) c.787+5399T>G (n.787+5399T>G) c.3826T>G (p.Ser1276Ala) | |
| 8 | g.54627688C>A | CA370997315 | RP1 | c.3806C>A (p.Ser1269Tyr) c.787+5400C>A (n.787+5400C>A) c.3827C>A (p.Ser1276Tyr) | |
| 8 | g.54627688C= | CA1785188845 | RP1 | c.3806C= (p.Ser1269=) c.787+5400C= (n.787+5400C=) c.3827C= (p.Ser1276=) | |
| 8 | g.54627688C>G | CA370997317 | RP1 | c.3806C>G (p.Ser1269Cys) c.787+5400C>G (n.787+5400C>G) c.3827C>G (p.Ser1276Cys) | |
| 8 | g.54627688C>T | CA370997316 | RP1 | c.3806C>T (p.Ser1269Phe) c.787+5400C>T (n.787+5400C>T) c.3827C>T (p.Ser1276Phe) | ClinVar dbSNP |
| 8 | g.54627689T>A | CA461099711 | RP1 | c.3807T>A (p.Ser1269=) c.787+5401T>A (n.787+5401T>A) c.3828T>A (p.Ser1276=) | |
| 8 | g.54627689T>C | CA461099712 | RP1 | c.3807T>C (p.Ser1269=) c.787+5401T>C (n.787+5401T>C) c.3828T>C (p.Ser1276=) | |
| 8 | g.54627689T>G | CA461099713 | RP1 | c.3807T>G (p.Ser1269=) c.787+5401T>G (n.787+5401T>G) c.3828T>G (p.Ser1276=) | |
| 8 | g.54627690C>A | CA370997318 | RP1 | c.3808C>A (p.Pro1270Thr) c.787+5402C>A (n.787+5402C>A) c.3829C>A (p.Pro1277Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627690C= | CA1785188846 | RP1 | c.3808C= (p.Pro1270=) c.787+5402C= (n.787+5402C=) c.3829C= (p.Pro1277=) | |
| 8 | g.54627690C>G | CA370997319 | RP1 | c.3808C>G (p.Pro1270Ala) c.787+5402C>G (n.787+5402C>G) c.3829C>G (p.Pro1277Ala) | |
| 8 | g.54627690C>T | CA370997320 | RP1 | c.3808C>T (p.Pro1270Ser) c.787+5402C>T (n.787+5402C>T) c.3829C>T (p.Pro1277Ser) | dbSNP gnomAD v4 |
| 8 | g.54627691C>A | CA370997321 | RP1 | c.3809C>A (p.Pro1270Gln) c.787+5403C>A (n.787+5403C>A) c.3830C>A (p.Pro1277Gln) | |
| 8 | g.54627691C>G | CA370997322 | RP1 | c.3809C>G (p.Pro1270Arg) c.787+5403C>G (n.787+5403C>G) c.3830C>G (p.Pro1277Arg) | |
| 8 | g.54627691C>T | CA370997323 | RP1 | c.3809C>T (p.Pro1270Leu) c.787+5403C>T (n.787+5403C>T) c.3830C>T (p.Pro1277Leu) | gnomAD v4 |
| 8 | g.54627692A>C | CA461099714 | RP1 | c.3810A>C (p.Pro1270=) c.787+5404A>C (n.787+5404A>C) c.3831A>C (p.Pro1277=) | |
| 8 | g.54627692A>G | CA461099715 | RP1 | c.3810A>G (p.Pro1270=) c.787+5404A>G (n.787+5404A>G) c.3831A>G (p.Pro1277=) | gnomAD v4 |
| 8 | g.54627692A>T | CA461099716 | RP1 | c.3810A>T (p.Pro1270=) c.787+5404A>T (n.787+5404A>T) c.3831A>T (p.Pro1277=) | |
| 8 | g.54627693A= | CA1785188847 | RP1 | c.3811A= (p.Lys1271=) c.787+5405A= (n.787+5405A=) c.3832A= (p.Lys1278=) | |
| 8 | g.54627693A>C | CA370997324 | RP1 | c.3811A>C (p.Lys1271Gln) c.787+5405A>C (n.787+5405A>C) c.3832A>C (p.Lys1278Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627693A>G | CA4751750 | RP1 | c.3811A>G (p.Lys1271Glu) c.787+5405A>G (n.787+5405A>G) c.3832A>G (p.Lys1278Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627693A>T | CA370997325 | RP1 | c.3811A>T (p.Lys1271Ter) c.787+5405A>T (n.787+5405A>T) c.3832A>T (p.Lys1278Ter) | |
| 8 | g.54627694A>C | CA370997326 | RP1 | c.3812A>C (p.Lys1271Thr) c.787+5406A>C (n.787+5406A>C) c.3833A>C (p.Lys1278Thr) | |
| 8 | g.54627694A>G | CA370997327 | RP1 | c.3812A>G (p.Lys1271Arg) c.787+5406A>G (n.787+5406A>G) c.3833A>G (p.Lys1278Arg) | |
| 8 | g.54627694A>T | CA370997328 | RP1 | c.3812A>T (p.Lys1271Ile) c.787+5406A>T (n.787+5406A>T) c.3833A>T (p.Lys1278Ile) | |
| 8 | g.54627695A>C | CA370997329 | RP1 | c.3813A>C (p.Lys1271Asn) c.787+5407A>C (n.787+5407A>C) c.3834A>C (p.Lys1278Asn) | |
| 8 | g.54627695A>G | CA461099717 | RP1 | c.3813A>G (p.Lys1271=) c.787+5407A>G (n.787+5407A>G) c.3834A>G (p.Lys1278=) | |
| 8 | g.54627695A>T | CA370997330 | RP1 | c.3813A>T (p.Lys1271Asn) c.787+5407A>T (n.787+5407A>T) c.3834A>T (p.Lys1278Asn) | |
| 8 | g.54627696G>A | CA370997331 | RP1 | c.3814G>A (p.Glu1272Lys) c.787+5408G>A (n.787+5408G>A) c.3835G>A (p.Glu1279Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.54627696G>C | CA370997332 | RP1 | c.3814G>C (p.Glu1272Gln) c.787+5408G>C (n.787+5408G>C) c.3835G>C (p.Glu1279Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627696G= | CA1785188848 | RP1 | c.3814G= (p.Glu1272=) c.787+5408G= (n.787+5408G=) c.3835G= (p.Glu1279=) | |
| 8 | g.54627696G>T | CA370997333 | RP1 | c.3814G>T (p.Glu1272Ter) c.787+5408G>T (n.787+5408G>T) c.3835G>T (p.Glu1279Ter) | |
| 8 | g.54627697A>C | CA370997334 | RP1 | c.3815A>C (p.Glu1272Ala) c.787+5409A>C (n.787+5409A>C) c.3836A>C (p.Glu1279Ala) | |
| 8 | g.54627697A>G | CA370997335 | RP1 | c.3815A>G (p.Glu1272Gly) c.787+5409A>G (n.787+5409A>G) c.3836A>G (p.Glu1279Gly) | |
| 8 | g.54627697A>T | CA370997336 | RP1 | c.3815A>T (p.Glu1272Val) c.787+5409A>T (n.787+5409A>T) c.3836A>T (p.Glu1279Val) | |
| 8 | g.54627698G>A | CA461099718 | RP1 | c.3816G>A (p.Glu1272=) c.787+5410G>A (n.787+5410G>A) c.3837G>A (p.Glu1279=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627698G>C | CA370997337 | RP1 | c.3816G>C (p.Glu1272Asp) c.787+5410G>C (n.787+5410G>C) c.3837G>C (p.Glu1279Asp) | |
| 8 | g.54627698G= | CA1785188849 | RP1 | c.3816G= (p.Glu1272=) c.787+5410G= (n.787+5410G=) c.3837G= (p.Glu1279=) | |
| 8 | g.54627698G>T | CA4751751 | RP1 | c.3816G>T (p.Glu1272Asp) c.787+5410G>T (n.787+5410G>T) c.3837G>T (p.Glu1279Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627699A>C | CA370997338 | RP1 | c.3817A>C (p.Thr1273Pro) c.787+5411A>C (n.787+5411A>C) c.3838A>C (p.Thr1280Pro) | |
| 8 | g.54627699A>G | CA370997339 | RP1 | c.3817A>G (p.Thr1273Ala) c.787+5411A>G (n.787+5411A>G) c.3838A>G (p.Thr1280Ala) | |
| 8 | g.54627699A>T | CA370997340 | RP1 | c.3817A>T (p.Thr1273Ser) c.787+5411A>T (n.787+5411A>T) c.3838A>T (p.Thr1280Ser) | |
| 8 | g.54627700C>A | CA370997342 | RP1 | c.3818C>A (p.Thr1273Lys) c.787+5412C>A (n.787+5412C>A) c.3839C>A (p.Thr1280Lys) | COSMIC |
| 8 | g.54627700C= | CA1785188850 | RP1 | c.3818C= (p.Thr1273=) c.787+5412C= (n.787+5412C=) c.3839C= (p.Thr1280=) | |
| 8 | g.54627700C>G | CA370997343 | RP1 | c.3818C>G (p.Thr1273Arg) c.787+5412C>G (n.787+5412C>G) c.3839C>G (p.Thr1280Arg) | |
| 8 | g.54627700C>T | CA370997341 | RP1 | c.3818C>T (p.Thr1273Ile) c.787+5412C>T (n.787+5412C>T) c.3839C>T (p.Thr1280Ile) | dbSNP gnomAD v4 |
| 8 | g.54627701A= | CA1785188851 | RP1 | c.3819A= (p.Thr1273=) c.787+5413A= (n.787+5413A=) c.3840A= (p.Thr1280=) | |
| 8 | g.54627701A>C | CA461099719 | RP1 | c.3819A>C (p.Thr1273=) c.787+5413A>C (n.787+5413A>C) c.3840A>C (p.Thr1280=) | gnomAD v4 |
| 8 | g.54627701A>G | CA4751752 | RP1 | c.3819A>G (p.Thr1273=) c.787+5413A>G (n.787+5413A>G) c.3840A>G (p.Thr1280=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627701A>T | CA461099720 | RP1 | c.3819A>T (p.Thr1273=) c.787+5413A>T (n.787+5413A>T) c.3840A>T (p.Thr1280=) | gnomAD v4 |
| 8 | g.54627702T>A | CA370997344 | RP1 | c.3820T>A (p.Cys1274Ser) c.787+5414T>A (n.787+5414T>A) c.3841T>A (p.Cys1281Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627702T>C | CA4751753 | RP1 | c.3820T>C (p.Cys1274Arg) c.787+5414T>C (n.787+5414T>C) c.3841T>C (p.Cys1281Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627702T>G | CA370997345 | RP1 | c.3820T>G (p.Cys1274Gly) c.787+5414T>G (n.787+5414T>G) c.3841T>G (p.Cys1281Gly) | gnomAD v4 |
| 8 | g.54627702T= | CA1785188852 | RP1 | c.3820T= (p.Cys1274=) c.787+5414T= (n.787+5414T=) c.3841T= (p.Cys1281=) | |
| 8 | g.54627703G>A | CA4751754 | RP1 | c.3821G>A (p.Cys1274Tyr) c.787+5415G>A (n.787+5415G>A) c.3842G>A (p.Cys1281Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627703G>C | CA370997346 | RP1 | c.3821G>C (p.Cys1274Ser) c.787+5415G>C (n.787+5415G>C) c.3842G>C (p.Cys1281Ser) | dbSNP |
| 8 | g.54627703G= | CA1785188853 | RP1 | c.3821G= (p.Cys1274=) c.787+5415G= (n.787+5415G=) c.3842G= (p.Cys1281=) | |
| 8 | g.54627703G>T | CA370997347 | RP1 | c.3821G>T (p.Cys1274Phe) c.787+5415G>T (n.787+5415G>T) c.3842G>T (p.Cys1281Phe) | |
| 8 | g.54627704T>A | CA370997348 | RP1 | c.3822T>A (p.Cys1274Ter) c.787+5416T>A (n.787+5416T>A) c.3843T>A (p.Cys1281Ter) | |
| 8 | g.54627704T>C | CA461099721 | RP1 | c.3822T>C (p.Cys1274=) c.787+5416T>C (n.787+5416T>C) c.3843T>C (p.Cys1281=) | |
| 8 | g.54627704T>G | CA370997349 | RP1 | c.3822T>G (p.Cys1274Trp) c.787+5416T>G (n.787+5416T>G) c.3843T>G (p.Cys1281Trp) | |
| 8 | g.54627705A>C | CA370997350 | RP1 | c.3823A>C (p.Asn1275His) c.787+5417A>C (n.787+5417A>C) c.3844A>C (p.Asn1282His) | |
| 8 | g.54627705A>G | CA370997351 | RP1 | c.3823A>G (p.Asn1275Asp) c.787+5417A>G (n.787+5417A>G) c.3844A>G (p.Asn1282Asp) | |
| 8 | g.54627705A>T | CA370997352 | RP1 | c.3823A>T (p.Asn1275Tyr) c.787+5417A>T (n.787+5417A>T) c.3844A>T (p.Asn1282Tyr) | |
| 8 | g.54627706A= | CA1785188854 | RP1 | c.3824A= (p.Asn1275=) c.787+5418A= (n.787+5418A=) c.3845A= (p.Asn1282=) | |
| 8 | g.54627706A>C | CA370997354 | RP1 | c.3824A>C (p.Asn1275Thr) c.787+5418A>C (n.787+5418A>C) c.3845A>C (p.Asn1282Thr) | |
| 8 | g.54627706A>G | CA370997355 | RP1 | c.3824A>G (p.Asn1275Ser) c.787+5418A>G (n.787+5418A>G) c.3845A>G (p.Asn1282Ser) | |
| 8 | g.54627706A>T | CA370997353 | RP1 | c.3824A>T (p.Asn1275Ile) c.787+5418A>T (n.787+5418A>T) c.3845A>T (p.Asn1282Ile) | |
| 8 | g.54627707C>A | CA370997356 | RP1 | c.3825C>A (p.Asn1275Lys) c.787+5419C>A (n.787+5419C>A) c.3846C>A (p.Asn1282Lys) | |
| 8 | g.54627707C>G | CA370997357 | RP1 | c.3825C>G (p.Asn1275Lys) c.787+5419C>G (n.787+5419C>G) c.3846C>G (p.Asn1282Lys) | |
| 8 | g.54627707C>T | CA461099722 | RP1 | c.3825C>T (p.Asn1275=) c.787+5419C>T (n.787+5419C>T) c.3846C>T (p.Asn1282=) | |
| 8 | g.54627710dup | CA177237769 | RP1 | c.3828dup (p.Ser1277GlnfsTer2) c.787+5422dup (n.787+5422dup) c.3849dup (p.Ser1284GlnfsTer2) | dbSNP |
| 8 | g.54627708C>A | CA370997358 | RP1 | c.3826C>A (p.Pro1276Thr) c.787+5420C>A (n.787+5420C>A) c.3847C>A (p.Pro1283Thr) | |
| 8 | g.54627708C= | CA1785188855 | RP1 | c.3826C= (p.Pro1276=) c.787+5420C= (n.787+5420C=) c.3847C= (p.Pro1283=) | |
| 8 | g.54627708C>G | CA370997359 | RP1 | c.3826C>G (p.Pro1276Ala) c.787+5420C>G (n.787+5420C>G) c.3847C>G (p.Pro1283Ala) | |
| 8 | g.54627708C>T | CA245314 | RP1 | c.3826C>T (p.Pro1276Ser) c.787+5420C>T (n.787+5420C>T) c.3847C>T (p.Pro1283Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627709C>A | CA370997362 | RP1 | c.3827C>A (p.Pro1276His) c.787+5421C>A (n.787+5421C>A) c.3848C>A (p.Pro1283His) | |
| 8 | g.54627709C= | CA1785188856 | RP1 | c.3827C= (p.Pro1276=) c.787+5421C= (n.787+5421C=) c.3848C= (p.Pro1283=) | |
| 8 | g.54627709C>G | CA370997360 | RP1 | c.3827C>G (p.Pro1276Arg) c.787+5421C>G (n.787+5421C>G) c.3848C>G (p.Pro1283Arg) | gnomAD v4 |
| 8 | g.54627709C>T | CA370997361 | RP1 | c.3827C>T (p.Pro1276Leu) c.787+5421C>T (n.787+5421C>T) c.3848C>T (p.Pro1283Leu) | ClinVar dbSNP |
| 8 | g.54627709_54627719del | CA2740095046 | RP1 | c.3827_3837del (p.Pro1276LeufsTer4) c.787+5421_787+5431del (n.787+5421_787+5431del) c.3848_3858del (p.Pro1283LeufsTer4) | ClinVar |
| 8 | g.54627710C>A | CA461099723 | RP1 | c.3828C>A (p.Pro1276=) c.787+5422C>A (n.787+5422C>A) c.3849C>A (p.Pro1283=) | |
| 8 | g.54627710C>G | CA461099724 | RP1 | c.3828C>G (p.Pro1276=) c.787+5422C>G (n.787+5422C>G) c.3849C>G (p.Pro1283=) | |
| 8 | g.54627710C>T | CA461099725 | RP1 | c.3828C>T (p.Pro1276=) c.787+5422C>T (n.787+5422C>T) c.3849C>T (p.Pro1283=) | |
| 8 | g.54627711A= | CA1785188857 | RP1 | c.3829A= (p.Ser1277=) c.787+5423A= (n.787+5423A=) c.3850A= (p.Ser1284=) | |
| 8 | g.54627711A>C | CA370997363 | RP1 | c.3829A>C (p.Ser1277Arg) c.787+5423A>C (n.787+5423A>C) c.3850A>C (p.Ser1284Arg) | |
| 8 | g.54627711A>G | CA370997364 | RP1 | c.3829A>G (p.Ser1277Gly) c.787+5423A>G (n.787+5423A>G) c.3850A>G (p.Ser1284Gly) | dbSNP gnomAD v4 |
| 8 | g.54627711A>T | CA370997365 | RP1 | c.3829A>T (p.Ser1277Cys) c.787+5423A>T (n.787+5423A>T) c.3850A>T (p.Ser1284Cys) | |
| 8 | g.54627712G>A | CA370997366 | RP1 | c.3830G>A (p.Ser1277Asn) c.787+5424G>A (n.787+5424G>A) c.3851G>A (p.Ser1284Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627712G>C | CA370997367 | RP1 | c.3830G>C (p.Ser1277Thr) c.787+5424G>C (n.787+5424G>C) c.3851G>C (p.Ser1284Thr) | |
| 8 | g.54627712G= | CA1785188858 | RP1 | c.3830G= (p.Ser1277=) c.787+5424G= (n.787+5424G=) c.3851G= (p.Ser1284=) | |
| 8 | g.54627712G>T | CA370997368 | RP1 | c.3830G>T (p.Ser1277Ile) c.787+5424G>T (n.787+5424G>T) c.3851G>T (p.Ser1284Ile) | |
| 8 | g.54627713T>A | CA370997370 | RP1 | c.3831T>A (p.Ser1277Arg) c.787+5425T>A (n.787+5425T>A) c.3852T>A (p.Ser1284Arg) | |
| 8 | g.54627713T>C | CA461099726 | RP1 | c.3831T>C (p.Ser1277=) c.787+5425T>C (n.787+5425T>C) c.3852T>C (p.Ser1284=) | |
| 8 | g.54627713T>G | CA370997369 | RP1 | c.3831T>G (p.Ser1277Arg) c.787+5425T>G (n.787+5425T>G) c.3852T>G (p.Ser1284Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627713T= | CA1785188859 | RP1 | c.3831T= (p.Ser1277=) c.787+5425T= (n.787+5425T=) c.3852T= (p.Ser1284=) | |
| 8 | g.54627714G>A | CA370997371 | RP1 | c.3832G>A (p.Asp1278Asn) c.787+5426G>A (n.787+5426G>A) c.3853G>A (p.Asp1285Asn) | |
| 8 | g.54627714G>C | CA370997373 | RP1 | c.3832G>C (p.Asp1278His) c.787+5426G>C (n.787+5426G>C) c.3853G>C (p.Asp1285His) | |
| 8 | g.54627714G>T | CA370997372 | RP1 | c.3832G>T (p.Asp1278Tyr) c.787+5426G>T (n.787+5426G>T) c.3853G>T (p.Asp1285Tyr) | |
| 8 | g.54627715A>C | CA370997374 | RP1 | c.3833A>C (p.Asp1278Ala) c.787+5427A>C (n.787+5427A>C) c.3854A>C (p.Asp1285Ala) | |
| 8 | g.54627715A>G | CA370997376 | RP1 | c.3833A>G (p.Asp1278Gly) c.787+5427A>G (n.787+5427A>G) c.3854A>G (p.Asp1285Gly) | |
| 8 | g.54627715A>T | CA370997375 | RP1 | c.3833A>T (p.Asp1278Val) c.787+5427A>T (n.787+5427A>T) c.3854A>T (p.Asp1285Val) | |
| 8 | g.54627716C>A | CA370997377 | RP1 | c.3834C>A (p.Asp1278Glu) c.787+5428C>A (n.787+5428C>A) c.3855C>A (p.Asp1285Glu) | |
| 8 | g.54627716C= | CA1785188860 | RP1 | c.3834C= (p.Asp1278=) c.787+5428C= (n.787+5428C=) c.3855C= (p.Asp1285=) | |
| 8 | g.54627716C>G | CA370997378 | RP1 | c.3834C>G (p.Asp1278Glu) c.787+5428C>G (n.787+5428C>G) c.3855C>G (p.Asp1285Glu) | |
| 8 | g.54627716C>T | CA461099727 | RP1 | c.3834C>T (p.Asp1278=) c.787+5428C>T (n.787+5428C>T) c.3855C>T (p.Asp1285=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627717A= | CA1785188861 | RP1 | c.3835A= (p.Thr1279=) c.787+5429A= (n.787+5429A=) c.3856A= (p.Thr1286=) | |
| 8 | g.54627717A>C | CA370997379 | RP1 | c.3835A>C (p.Thr1279Pro) c.787+5429A>C (n.787+5429A>C) c.3856A>C (p.Thr1286Pro) | |
| 8 | g.54627717A>G | CA370997380 | RP1 | c.3835A>G (p.Thr1279Ala) c.787+5429A>G (n.787+5429A>G) c.3856A>G (p.Thr1286Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627717A>T | CA370997381 | RP1 | c.3835A>T (p.Thr1279Ser) c.787+5429A>T (n.787+5429A>T) c.3856A>T (p.Thr1286Ser) | |
| 8 | g.54627718del | CA2687301874 | RP1 | c.3836del (p.Thr1279IlefsTer15) c.787+5430del (n.787+5430del) c.3857del (p.Thr1286IlefsTer15) | gnomAD v4 |
| 8 | g.54627718C>A | CA370997382 | RP1 | c.3836C>A (p.Thr1279Asn) c.787+5430C>A (n.787+5430C>A) c.3857C>A (p.Thr1286Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627718C= | CA1785188863 | RP1 | c.3836C= (p.Thr1279=) c.787+5430C= (n.787+5430C=) c.3857C= (p.Thr1286=) | |
| 8 | g.54627718C>G | CA370997383 | RP1 | c.3836C>G (p.Thr1279Ser) c.787+5430C>G (n.787+5430C>G) c.3857C>G (p.Thr1286Ser) | dbSNP |
| 8 | g.54627718C>T | CA370997384 | RP1 | c.3836C>T (p.Thr1279Ile) c.787+5430C>T (n.787+5430C>T) c.3857C>T (p.Thr1286Ile) | |
| 8 | g.54627718_54627719delinsCT | CA1785188862 | RP1 | c.3836_3837delinsCT (p.Thr1279=) c.787+5430_787+5431delinsCT (n.787+5430_787+5431delinsCT) c.3857_3858delinsCT (p.Thr1286=) | |
| 8 | g.54627719T>A | CA461099729 | RP1 | c.3837T>A (p.Thr1279=) c.787+5431T>A (n.787+5431T>A) c.3858T>A (p.Thr1286=) | |
| 8 | g.54627719T>C | CA461099730 | RP1 | c.3837T>C (p.Thr1279=) c.787+5431T>C (n.787+5431T>C) c.3858T>C (p.Thr1286=) | |
| 8 | g.54627719T>G | CA461099728 | RP1 | c.3837T>G (p.Thr1279=) c.787+5431T>G (n.787+5431T>G) c.3858T>G (p.Thr1286=) | |
| 8 | g.54627725dup | CA4751755 | RP1 | c.3843dup (p.Pro1282SerfsTer2) c.787+5437dup (n.787+5437dup) c.3864dup (p.Pro1289SerfsTer2) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54627725del | CA645509462 | RP1 | c.3843del (p.Pro1282LeufsTer12) c.787+5437del (n.787+5437del) c.3864del (p.Pro1289LeufsTer12) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.54627720T>A | CA370997385 | RP1 | c.3838T>A (p.Phe1280Ile) c.787+5432T>A (n.787+5432T>A) c.3859T>A (p.Phe1287Ile) | gnomAD v4 |
| 8 | g.54627720T>C | CA370997386 | RP1 | c.3838T>C (p.Phe1280Leu) c.787+5432T>C (n.787+5432T>C) c.3859T>C (p.Phe1287Leu) | |
| 8 | g.54627720T>G | CA4751756 | RP1 | c.3838T>G (p.Phe1280Val) c.787+5432T>G (n.787+5432T>G) c.3859T>G (p.Phe1287Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627720T= | CA1785188864 | RP1 | c.3838T= (p.Phe1280=) c.787+5432T= (n.787+5432T=) c.3859T= (p.Phe1287=) | |
| 8 | g.54627721T>A | CA370997387 | RP1 | c.3839T>A (p.Phe1280Tyr) c.787+5433T>A (n.787+5433T>A) c.3860T>A (p.Phe1287Tyr) | |
| 8 | g.54627721T>C | CA370997388 | RP1 | c.3839T>C (p.Phe1280Ser) c.787+5433T>C (n.787+5433T>C) c.3860T>C (p.Phe1287Ser) | |
| 8 | g.54627721T>G | CA370997389 | RP1 | c.3839T>G (p.Phe1280Cys) c.787+5433T>G (n.787+5433T>G) c.3860T>G (p.Phe1287Cys) | |
| 8 | g.54627722T>A | CA370997390 | RP1 | c.3840T>A (p.Phe1280Leu) c.787+5434T>A (n.787+5434T>A) c.3861T>A (p.Phe1287Leu) | |
| 8 | g.54627722T>C | CA461099732 | RP1 | c.3840T>C (p.Phe1280=) c.787+5434T>C (n.787+5434T>C) c.3861T>C (p.Phe1287=) | |
| 8 | g.54627722T>G | CA370997391 | RP1 | c.3840T>G (p.Phe1280Leu) c.787+5434T>G (n.787+5434T>G) c.3861T>G (p.Phe1287Leu) | |
| 8 | g.54627723T>A | CA370997392 | RP1 | c.3841T>A (p.Phe1281Ile) c.787+5435T>A (n.787+5435T>A) c.3862T>A (p.Phe1288Ile) | |
| 8 | g.54627723T>C | CA370997393 | RP1 | c.3841T>C (p.Phe1281Leu) c.787+5435T>C (n.787+5435T>C) c.3862T>C (p.Phe1288Leu) | |
| 8 | g.54627723T>G | CA370997394 | RP1 | c.3841T>G (p.Phe1281Val) c.787+5435T>G (n.787+5435T>G) c.3862T>G (p.Phe1288Val) | |
| 8 | g.54627724T>A | CA370997395 | RP1 | c.3842T>A (p.Phe1281Tyr) c.787+5436T>A (n.787+5436T>A) c.3863T>A (p.Phe1288Tyr) | |
| 8 | g.54627724T>C | CA370997396 | RP1 | c.3842T>C (p.Phe1281Ser) c.787+5436T>C (n.787+5436T>C) c.3863T>C (p.Phe1288Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627724T>G | CA370997397 | RP1 | c.3842T>G (p.Phe1281Cys) c.787+5436T>G (n.787+5436T>G) c.3863T>G (p.Phe1288Cys) | |
| 8 | g.54627724T= | CA1785188865 | RP1 | c.3842T= (p.Phe1281=) c.787+5436T= (n.787+5436T=) c.3863T= (p.Phe1288=) | |
| 8 | g.54627725T>A | CA370997398 | RP1 | c.3843T>A (p.Phe1281Leu) c.787+5437T>A (n.787+5437T>A) c.3864T>A (p.Phe1288Leu) | |
| 8 | g.54627725T>C | CA461099733 | RP1 | c.3843T>C (p.Phe1281=) c.787+5437T>C (n.787+5437T>C) c.3864T>C (p.Phe1288=) | gnomAD v4 |
| 8 | g.54627725T>G | CA370997399 | RP1 | c.3843T>G (p.Phe1281Leu) c.787+5437T>G (n.787+5437T>G) c.3864T>G (p.Phe1288Leu) | |
| 8 | g.54627726C>A | CA370997400 | RP1 | c.3844C>A (p.Pro1282Thr) c.787+5438C>A (n.787+5438C>A) c.3865C>A (p.Pro1289Thr) | |
| 8 | g.54627726C= | CA1785188866 | RP1 | c.3844C= (p.Pro1282=) c.787+5438C= (n.787+5438C=) c.3865C= (p.Pro1289=) | |
| 8 | g.54627726C>G | CA370997401 | RP1 | c.3844C>G (p.Pro1282Ala) c.787+5438C>G (n.787+5438C>G) c.3865C>G (p.Pro1289Ala) | |
| 8 | g.54627726C>T | CA177237778 | RP1 | c.3844C>T (p.Pro1282Ser) c.787+5438C>T (n.787+5438C>T) c.3865C>T (p.Pro1289Ser) | dbSNP COSMIC |
| 8 | g.54627727C>A | CA370997403 | RP1 | c.3845C>A (p.Pro1282His) c.787+5439C>A (n.787+5439C>A) c.3866C>A (p.Pro1289His) | |
| 8 | g.54627727C= | CA1785188867 | RP1 | c.3845C= (p.Pro1282=) c.787+5439C= (n.787+5439C=) c.3866C= (p.Pro1289=) | |
| 8 | g.54627727C>G | CA370997402 | RP1 | c.3845C>G (p.Pro1282Arg) c.787+5439C>G (n.787+5439C>G) c.3866C>G (p.Pro1289Arg) | gnomAD v4 |
| 8 | g.54627727C>T | CA177237781 | RP1 | c.3845C>T (p.Pro1282Leu) c.787+5439C>T (n.787+5439C>T) c.3866C>T (p.Pro1289Leu) | dbSNP gnomAD v4 |
| 8 | g.54627728T>A | CA4751757 | RP1 | c.3846T>A (p.Pro1282=) c.787+5440T>A (n.787+5440T>A) c.3867T>A (p.Pro1289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627728T>C | CA461099736 | RP1 | c.3846T>C (p.Pro1282=) c.787+5440T>C (n.787+5440T>C) c.3867T>C (p.Pro1289=) | COSMIC |
| 8 | g.54627728T>G | CA461099737 | RP1 | c.3846T>G (p.Pro1282=) c.787+5440T>G (n.787+5440T>G) c.3867T>G (p.Pro1289=) | |
| 8 | g.54627728T= | CA1785188868 | RP1 | c.3846T= (p.Pro1282=) c.787+5440T= (n.787+5440T=) c.3867T= (p.Pro1289=) | |
| 8 | g.54627729A>C | CA370997404 | RP1 | c.3847A>C (p.Ser1283Arg) c.787+5441A>C (n.787+5441A>C) c.3868A>C (p.Ser1290Arg) | gnomAD v4 |
| 8 | g.54627729A>G | CA370997405 | RP1 | c.3847A>G (p.Ser1283Gly) c.787+5441A>G (n.787+5441A>G) c.3868A>G (p.Ser1290Gly) | gnomAD v4 |
| 8 | g.54627729A>T | CA370997406 | RP1 | c.3847A>T (p.Ser1283Cys) c.787+5441A>T (n.787+5441A>T) c.3868A>T (p.Ser1290Cys) | |
| 8 | g.54627730G>A | CA370997407 | RP1 | c.3848G>A (p.Ser1283Asn) c.787+5442G>A (n.787+5442G>A) c.3869G>A (p.Ser1290Asn) | |
| 8 | g.54627730G>C | CA370997408 | RP1 | c.3848G>C (p.Ser1283Thr) c.787+5442G>C (n.787+5442G>C) c.3869G>C (p.Ser1290Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627730G= | CA1785188869 | RP1 | c.3848G= (p.Ser1283=) c.787+5442G= (n.787+5442G=) c.3869G= (p.Ser1290=) | |
| 8 | g.54627730G>T | CA4751758 | RP1 | c.3848G>T (p.Ser1283Ile) c.787+5442G>T (n.787+5442G>T) c.3869G>T (p.Ser1290Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627731T>A | CA370997409 | RP1 | c.3849T>A (p.Ser1283Arg) c.787+5443T>A (n.787+5443T>A) c.3870T>A (p.Ser1290Arg) | |
| 8 | g.54627731T>C | CA461099740 | RP1 | c.3849T>C (p.Ser1283=) c.787+5443T>C (n.787+5443T>C) c.3870T>C (p.Ser1290=) | |
| 8 | g.54627731T>G | CA370997410 | RP1 | c.3849T>G (p.Ser1283Arg) c.787+5443T>G (n.787+5443T>G) c.3870T>G (p.Ser1290Arg) | |
| 8 | g.54627732G>A | CA370997411 | RP1 | c.3850G>A (p.Asp1284Asn) c.787+5444G>A (n.787+5444G>A) c.3871G>A (p.Asp1291Asn) | |
| 8 | g.54627732G>C | CA370997412 | RP1 | c.3850G>C (p.Asp1284His) c.787+5444G>C (n.787+5444G>C) c.3871G>C (p.Asp1291His) | |
| 8 | g.54627732G= | CA1785188870 | RP1 | c.3850G= (p.Asp1284=) c.787+5444G= (n.787+5444G=) c.3871G= (p.Asp1291=) | |
| 8 | g.54627732G>T | CA4751759 | RP1 | c.3850G>T (p.Asp1284Tyr) c.787+5444G>T (n.787+5444G>T) c.3871G>T (p.Asp1291Tyr) | dbSNP ExAC gnomAD v4 |
| 8 | g.54627733A>C | CA370997415 | RP1 | c.3851A>C (p.Asp1284Ala) c.787+5445A>C (n.787+5445A>C) c.3872A>C (p.Asp1291Ala) | |
| 8 | g.54627733A>G | CA370997413 | RP1 | c.3851A>G (p.Asp1284Gly) c.787+5445A>G (n.787+5445A>G) c.3872A>G (p.Asp1291Gly) | |
| 8 | g.54627733A>T | CA370997414 | RP1 | c.3851A>T (p.Asp1284Val) c.787+5445A>T (n.787+5445A>T) c.3872A>T (p.Asp1291Val) | |
| 8 | g.54627734T>A | CA370997416 | RP1 | c.3852T>A (p.Asp1284Glu) c.787+5446T>A (n.787+5446T>A) c.3873T>A (p.Asp1291Glu) | |
| 8 | g.54627734T>C | CA461099742 | RP1 | c.3852T>C (p.Asp1284=) c.787+5446T>C (n.787+5446T>C) c.3873T>C (p.Asp1291=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627734T>G | CA370997417 | RP1 | c.3852T>G (p.Asp1284Glu) c.787+5446T>G (n.787+5446T>G) c.3873T>G (p.Asp1291Glu) | |
| 8 | g.54627734T= | CA1785188871 | RP1 | c.3852T= (p.Asp1284=) c.787+5446T= (n.787+5446T=) c.3873T= (p.Asp1291=) | |
| 8 | g.54627735G>A | CA370997418 | RP1 | c.3853G>A (p.Gly1285Ser) c.787+5447G>A (n.787+5447G>A) c.3874G>A (p.Gly1292Ser) | |
| 8 | g.54627735G>C | CA370997419 | RP1 | c.3853G>C (p.Gly1285Arg) c.787+5447G>C (n.787+5447G>C) c.3874G>C (p.Gly1292Arg) | |
| 8 | g.54627735G>T | CA370997420 | RP1 | c.3853G>T (p.Gly1285Cys) c.787+5447G>T (n.787+5447G>T) c.3874G>T (p.Gly1292Cys) | |
| 8 | g.54627736G>A | CA370997421 | RP1 | c.3854G>A (p.Gly1285Asp) c.787+5448G>A (n.787+5448G>A) c.3875G>A (p.Gly1292Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.54627736G>C | CA370997422 | RP1 | c.3854G>C (p.Gly1285Ala) c.787+5448G>C (n.787+5448G>C) c.3875G>C (p.Gly1292Ala) | |
| 8 | g.54627736G= | CA1785188872 | RP1 | c.3854G= (p.Gly1285=) c.787+5448G= (n.787+5448G=) c.3875G= (p.Gly1292=) | |
| 8 | g.54627736G>T | CA370997423 | RP1 | c.3854G>T (p.Gly1285Val) c.787+5448G>T (n.787+5448G>T) c.3875G>T (p.Gly1292Val) | |
| 8 | g.54627737T>A | CA461099744 | RP1 | c.3855T>A (p.Gly1285=) c.787+5449T>A (n.787+5449T>A) c.3876T>A (p.Gly1292=) | |
| 8 | g.54627737T>C | CA461099745 | RP1 | c.3855T>C (p.Gly1285=) c.787+5449T>C (n.787+5449T>C) c.3876T>C (p.Gly1292=) | |
| 8 | g.54627737T>G | CA461099746 | RP1 | c.3855T>G (p.Gly1285=) c.787+5449T>G (n.787+5449T>G) c.3876T>G (p.Gly1292=) | |
| 8 | g.54627738T>A | CA370997424 | RP1 | c.3856T>A (p.Tyr1286Asn) c.787+5450T>A (n.787+5450T>A) c.3877T>A (p.Tyr1293Asn) | |
| 8 | g.54627738T>C | CA370997425 | RP1 | c.3856T>C (p.Tyr1286His) c.787+5450T>C (n.787+5450T>C) c.3877T>C (p.Tyr1293His) | |
| 8 | g.54627738T>G | CA370997426 | RP1 | c.3856T>G (p.Tyr1286Asp) c.787+5450T>G (n.787+5450T>G) c.3877T>G (p.Tyr1293Asp) | |
| 8 | g.54627739A= | CA1785188873 | RP1 | c.3857A= (p.Tyr1286=) c.787+5451A= (n.787+5451A=) c.3878A= (p.Tyr1293=) | |
| 8 | g.54627739A>C | CA370997428 | RP1 | c.3857A>C (p.Tyr1286Ser) c.787+5451A>C (n.787+5451A>C) c.3878A>C (p.Tyr1293Ser) | |
| 8 | g.54627739A>G | CA177237791 | RP1 | c.3857A>G (p.Tyr1286Cys) c.787+5451A>G (n.787+5451A>G) c.3878A>G (p.Tyr1293Cys) | dbSNP gnomAD v4 |
| 8 | g.54627739A>T | CA370997427 | RP1 | c.3857A>T (p.Tyr1286Phe) c.787+5451A>T (n.787+5451A>T) c.3878A>T (p.Tyr1293Phe) | |
| 8 | g.54627740T>A | CA370997429 | RP1 | c.3858T>A (p.Tyr1286Ter) c.787+5452T>A (n.787+5452T>A) c.3879T>A (p.Tyr1293Ter) | |
| 8 | g.54627740T>C | CA461099752 | RP1 | c.3858T>C (p.Tyr1286=) c.787+5452T>C (n.787+5452T>C) c.3879T>C (p.Tyr1293=) | |
| 8 | g.54627740T>G | CA370997430 | RP1 | c.3858T>G (p.Tyr1286Ter) c.787+5452T>G (n.787+5452T>G) c.3879T>G (p.Tyr1293Ter) | |
| 8 | g.54627741G>A | CA370997431 | RP1 | c.3859G>A (p.Gly1287Ser) c.787+5453G>A (n.787+5453G>A) c.3880G>A (p.Gly1294Ser) | |
| 8 | g.54627741G>C | CA370997432 | RP1 | c.3859G>C (p.Gly1287Arg) c.787+5453G>C (n.787+5453G>C) c.3880G>C (p.Gly1294Arg) | |
| 8 | g.54627741G>T | CA370997433 | RP1 | c.3859G>T (p.Gly1287Cys) c.787+5453G>T (n.787+5453G>T) c.3880G>T (p.Gly1294Cys) | COSMIC |
| 8 | g.54627742G>A | CA370997434 | RP1 | c.3860G>A (p.Gly1287Asp) c.787+5454G>A (n.787+5454G>A) c.3881G>A (p.Gly1294Asp) | dbSNP gnomAD v4 |
| 8 | g.54627742G>C | CA370997435 | RP1 | c.3860G>C (p.Gly1287Ala) c.787+5454G>C (n.787+5454G>C) c.3881G>C (p.Gly1294Ala) | |
| 8 | g.54627742G= | CA1785188874 | RP1 | c.3860G= (p.Gly1287=) c.787+5454G= (n.787+5454G=) c.3881G= (p.Gly1294=) | |
| 8 | g.54627742G>T | CA370997436 | RP1 | c.3860G>T (p.Gly1287Val) c.787+5454G>T (n.787+5454G>T) c.3881G>T (p.Gly1294Val) | |
| 8 | g.54627743T>A | CA461099754 | RP1 | c.3861T>A (p.Gly1287=) c.787+5455T>A (n.787+5455T>A) c.3882T>A (p.Gly1294=) | |
| 8 | g.54627743T>C | CA461099755 | RP1 | c.3861T>C (p.Gly1287=) c.787+5455T>C (n.787+5455T>C) c.3882T>C (p.Gly1294=) | |
| 8 | g.54627743T>G | CA461099756 | RP1 | c.3861T>G (p.Gly1287=) c.787+5455T>G (n.787+5455T>G) c.3882T>G (p.Gly1294=) | gnomAD v4 |
| 8 | g.54627744G>A | CA370997437 | RP1 | c.3862G>A (p.Val1288Met) c.787+5456G>A (n.787+5456G>A) c.3883G>A (p.Val1295Met) | |
| 8 | g.54627744G>C | CA370997438 | RP1 | c.3862G>C (p.Val1288Leu) c.787+5456G>C (n.787+5456G>C) c.3883G>C (p.Val1295Leu) | |
| 8 | g.54627744G= | CA1785188875 | RP1 | c.3862G= (p.Val1288=) c.787+5456G= (n.787+5456G=) c.3883G= (p.Val1295=) | |
| 8 | g.54627744G>T | CA370997439 | RP1 | c.3862G>T (p.Val1288Leu) c.787+5456G>T (n.787+5456G>T) c.3883G>T (p.Val1295Leu) | dbSNP |
| 8 | g.54627745T>A | CA370997440 | RP1 | c.3863T>A (p.Val1288Glu) c.787+5457T>A (n.787+5457T>A) c.3884T>A (p.Val1295Glu) | |
| 8 | g.54627745T>C | CA370997441 | RP1 | c.3863T>C (p.Val1288Ala) c.787+5457T>C (n.787+5457T>C) c.3884T>C (p.Val1295Ala) | |
| 8 | g.54627745T>G | CA370997442 | RP1 | c.3863T>G (p.Val1288Gly) c.787+5457T>G (n.787+5457T>G) c.3884T>G (p.Val1295Gly) | |
| 8 | g.54627746G>A | CA461099757 | RP1 | c.3864G>A (p.Val1288=) c.787+5458G>A (n.787+5458G>A) c.3885G>A (p.Val1295=) | |
| 8 | g.54627746G>C | CA461099760 | RP1 | c.3864G>C (p.Val1288=) c.787+5458G>C (n.787+5458G>C) c.3885G>C (p.Val1295=) | |
| 8 | g.54627746G>T | CA461099758 | RP1 | c.3864G>T (p.Val1288=) c.787+5458G>T (n.787+5458G>T) c.3885G>T (p.Val1295=) | |
| 8 | g.54627747G>A | CA370997444 | RP1 | c.3865G>A (p.Asp1289Asn) c.787+5459G>A (n.787+5459G>A) c.3886G>A (p.Asp1296Asn) | COSMIC |
| 8 | g.54627747G>C | CA177237795 | RP1 | c.3865G>C (p.Asp1289His) c.787+5459G>C (n.787+5459G>C) c.3886G>C (p.Asp1296His) | dbSNP |
| 8 | g.54627747G= | CA1785188876 | RP1 | c.3865G= (p.Asp1289=) c.787+5459G= (n.787+5459G=) c.3886G= (p.Asp1296=) | |
| 8 | g.54627747G>T | CA370997443 | RP1 | c.3865G>T (p.Asp1289Tyr) c.787+5459G>T (n.787+5459G>T) c.3886G>T (p.Asp1296Tyr) | gnomAD v4 |
| 8 | g.54627748A>C | CA370997445 | RP1 | c.3866A>C (p.Asp1289Ala) c.787+5460A>C (n.787+5460A>C) c.3887A>C (p.Asp1296Ala) | |
| 8 | g.54627748A>G | CA370997446 | RP1 | c.3866A>G (p.Asp1289Gly) c.787+5460A>G (n.787+5460A>G) c.3887A>G (p.Asp1296Gly) | |
| 8 | g.54627748A>T | CA370997447 | RP1 | c.3866A>T (p.Asp1289Val) c.787+5460A>T (n.787+5460A>T) c.3887A>T (p.Asp1296Val) | |
| 8 | g.54627749T>A | CA370997448 | RP1 | c.3867T>A (p.Asp1289Glu) c.787+5461T>A (n.787+5461T>A) c.3888T>A (p.Asp1296Glu) | |
| 8 | g.54627749T>C | CA461099762 | RP1 | c.3867T>C (p.Asp1289=) c.787+5461T>C (n.787+5461T>C) c.3888T>C (p.Asp1296=) | |
| 8 | g.54627749T>G | CA370997449 | RP1 | c.3867T>G (p.Asp1289Glu) c.787+5461T>G (n.787+5461T>G) c.3888T>G (p.Asp1296Glu) | |
| 8 | g.54627750C>A | CA370997450 | RP1 | c.3868C>A (p.Gln1290Lys) c.787+5462C>A (n.787+5462C>A) c.3889C>A (p.Gln1297Lys) | gnomAD v4 |
| 8 | g.54627750C>G | CA370997451 | RP1 | c.3868C>G (p.Gln1290Glu) c.787+5462C>G (n.787+5462C>G) c.3889C>G (p.Gln1297Glu) | |
| 8 | g.54627750C>T | CA370997452 | RP1 | c.3868C>T (p.Gln1290Ter) c.787+5462C>T (n.787+5462C>T) c.3889C>T (p.Gln1297Ter) | COSMIC |
| 8 | g.54627751A>C | CA370997453 | RP1 | c.3869A>C (p.Gln1290Pro) c.787+5463A>C (n.787+5463A>C) c.3890A>C (p.Gln1297Pro) | |
| 8 | g.54627751A>G | CA370997454 | RP1 | c.3869A>G (p.Gln1290Arg) c.787+5463A>G (n.787+5463A>G) c.3890A>G (p.Gln1297Arg) | gnomAD v4 |
| 8 | g.54627751A>T | CA370997455 | RP1 | c.3869A>T (p.Gln1290Leu) c.787+5463A>T (n.787+5463A>T) c.3890A>T (p.Gln1297Leu) | |
| 8 | g.54627752G>A | CA461099766 | RP1 | c.3870G>A (p.Gln1290=) c.787+5464G>A (n.787+5464G>A) c.3891G>A (p.Gln1297=) | COSMIC |
| 8 | g.54627752G>C | CA370997456 | RP1 | c.3870G>C (p.Gln1290His) c.787+5464G>C (n.787+5464G>C) c.3891G>C (p.Gln1297His) | |
| 8 | g.54627752G= | CA1785188877 | RP1 | c.3870G= (p.Gln1290=) c.787+5464G= (n.787+5464G=) c.3891G= (p.Gln1297=) | |
| 8 | g.54627752G>T | CA10627986 | RP1 | c.3870G>T (p.Gln1290His) c.787+5464G>T (n.787+5464G>T) c.3891G>T (p.Gln1297His) | ClinVar dbSNP gnomAD v4 |
| 8 | g.54627753A>C | CA370997457 | RP1 | c.3871A>C (p.Thr1291Pro) c.787+5465A>C (n.787+5465A>C) c.3892A>C (p.Thr1298Pro) | |
| 8 | g.54627753A>G | CA370997458 | RP1 | c.3871A>G (p.Thr1291Ala) c.787+5465A>G (n.787+5465A>G) c.3892A>G (p.Thr1298Ala) | |
| 8 | g.54627753A>T | CA370997459 | RP1 | c.3871A>T (p.Thr1291Ser) c.787+5465A>T (n.787+5465A>T) c.3892A>T (p.Thr1298Ser) | |
| 8 | g.54627754C>A | CA370997460 | RP1 | c.3872C>A (p.Thr1291Asn) c.787+5466C>A (n.787+5466C>A) c.3893C>A (p.Thr1298Asn) | |
| 8 | g.54627754C>G | CA370997461 | RP1 | c.3872C>G (p.Thr1291Ser) c.787+5466C>G (n.787+5466C>G) c.3893C>G (p.Thr1298Ser) | |
| 8 | g.54627754C>T | CA370997462 | RP1 | c.3872C>T (p.Thr1291Ile) c.787+5466C>T (n.787+5466C>T) c.3893C>T (p.Thr1298Ile) | |
| 8 | g.54627755T>A | CA461099769 | RP1 | c.3873T>A (p.Thr1291=) c.787+5467T>A (n.787+5467T>A) c.3894T>A (p.Thr1298=) | gnomAD v4 |
| 8 | g.54627755T>C | CA461099771 | RP1 | c.3873T>C (p.Thr1291=) c.787+5467T>C (n.787+5467T>C) c.3894T>C (p.Thr1298=) | |
| 8 | g.54627755T>G | CA461099772 | RP1 | c.3873T>G (p.Thr1291=) c.787+5467T>G (n.787+5467T>G) c.3894T>G (p.Thr1298=) | |
| 8 | g.54627756T>A | CA370997463 | RP1 | c.3874T>A (p.Ser1292Thr) c.787+5468T>A (n.787+5468T>A) c.3895T>A (p.Ser1299Thr) | |
| 8 | g.54627756T>C | CA4751760 | RP1 | c.3874T>C (p.Ser1292Pro) c.787+5468T>C (n.787+5468T>C) c.3895T>C (p.Ser1299Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.54627756T>G | CA370997464 | RP1 | c.3874T>G (p.Ser1292Ala) c.787+5468T>G (n.787+5468T>G) c.3895T>G (p.Ser1299Ala) | |
| 8 | g.54627756T= | CA1785188878 | RP1 | c.3874T= (p.Ser1292=) c.787+5468T= (n.787+5468T=) c.3895T= (p.Ser1299=) | |
| 8 | g.54627757C>A | CA370997465 | RP1 | c.3875C>A (p.Ser1292Tyr) c.787+5469C>A (n.787+5469C>A) c.3896C>A (p.Ser1299Tyr) | gnomAD v4 |
| 8 | g.54627757C= | CA1785188879 | RP1 | c.3875C= (p.Ser1292=) c.787+5469C= (n.787+5469C=) c.3896C= (p.Ser1299=) | |
| 8 | g.54627757C>G | CA370997466 | RP1 | c.3875C>G (p.Ser1292Cys) c.787+5469C>G (n.787+5469C>G) c.3896C>G (p.Ser1299Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.54627757C>T | CA370997467 | RP1 | c.3875C>T (p.Ser1292Phe) c.787+5469C>T (n.787+5469C>T) c.3896C>T (p.Ser1299Phe) | |
| 8 | g.54627758T>A | CA461099774 | RP1 | c.3876T>A (p.Ser1292=) c.787+5470T>A (n.787+5470T>A) c.3897T>A (p.Ser1299=) | |
| 8 | g.54627758T>C | CA461099775 | RP1 | c.3876T>C (p.Ser1292=) c.787+5470T>C (n.787+5470T>C) c.3897T>C (p.Ser1299=) | |
| 8 | g.54627758T>G | CA461099776 | RP1 | c.3876T>G (p.Ser1292=) c.787+5470T>G (n.787+5470T>G) c.3897T>G (p.Ser1299=) | |
| 8 | g.54627759A= | CA1785188880 | RP1 | c.3877A= (p.Met1293=) c.787+5471A= (n.787+5471A=) c.3898A= (p.Met1300=) | |
| 8 | g.54627759A>C | CA370997469 | RP1 | c.3877A>C (p.Met1293Leu) c.787+5471A>C (n.787+5471A>C) c.3898A>C (p.Met1300Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.54627759A>G | CA370997470 | RP1 | c.3877A>G (p.Met1293Val) c.787+5471A>G (n.787+5471A>G) c.3898A>G (p.Met1300Val) | gnomAD v4 |
| 8 | g.54627759A>T | CA370997468 | RP1 | c.3877A>T (p.Met1293Leu) c.787+5471A>T (n.787+5471A>T) c.3898A>T (p.Met1300Leu) | |
| 8 | g.54627760T>A | CA370997471 | RP1 | c.3878T>A (p.Met1293Lys) c.787+5472T>A (n.787+5472T>A) c.3899T>A (p.Met1300Lys) | |
| 8 | g.54627760T>C | CA370997472 | RP1 | c.3878T>C (p.Met1293Thr) c.787+5472T>C (n.787+5472T>C) c.3899T>C (p.Met1300Thr) | gnomAD v4 |
| 8 | g.54627760T>G | CA370997473 | RP1 | c.3878T>G (p.Met1293Arg) c.787+5472T>G (n.787+5472T>G) c.3899T>G (p.Met1300Arg) | |
| 8 | g.54627761G>A | CA370997474 | RP1 | c.3879G>A (p.Met1293Ile) c.787+5473G>A (n.787+5473G>A) c.3900G>A (p.Met1300Ile) | COSMIC |
| 8 | g.54627761G>C | CA370997475 | RP1 | c.3879G>C (p.Met1293Ile) c.787+5473G>C (n.787+5473G>C) c.3900G>C (p.Met1300Ile) | |
| 8 | g.54627761G>T | CA370997476 | RP1 | c.3879G>T (p.Met1293Ile) c.787+5473G>T (n.787+5473G>T) c.3900G>T (p.Met1300Ile) | |
| 8 | g.54627762A>C | CA370997477 | RP1 | c.3880A>C (p.Asn1294His) c.787+5474A>C (n.787+5474A>C) c.3901A>C (p.Asn1301His) | |
| 8 | g.54627762A>G | CA370997479 | RP1 | c.3880A>G (p.Asn1294Asp) c.787+5474A>G (n.787+5474A>G) c.3901A>G (p.Asn1301Asp) | |
| 8 | g.54627762A>T | CA370997478 | RP1 | c.3880A>T (p.Asn1294Tyr) c.787+5474A>T (n.787+5474A>T) c.3901A>T (p.Asn1301Tyr) | gnomAD v4 |
| 8 | g.54627763A= | CA1785188881 | RP1 | c.3881A= (p.Asn1294=) c.787+5475A= (n.787+5475A=) c.3902A= (p.Asn1301=) | |
| 8 | g.54627763A>C | CA4751761 | RP1 | c.3881A>C (p.Asn1294Thr) c.787+5475A>C (n.787+5475A>C) c.3902A>C (p.Asn1301Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627763A>G | CA4751762 | RP1 | c.3881A>G (p.Asn1294Ser) c.787+5475A>G (n.787+5475A>G) c.3902A>G (p.Asn1301Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.54627763A>T | CA370997480 | RP1 | c.3881A>T (p.Asn1294Ile) c.787+5475A>T (n.787+5475A>T) c.3902A>T (p.Asn1301Ile) | |
| 8 | g.54627764T>A | CA370997481 | RP1 | c.3882T>A (p.Asn1294Lys) c.787+5476T>A (n.787+5476T>A) c.3903T>A (p.Asn1301Lys) | |
| 8 | g.54627764T>C | CA461099786 | RP1 | c.3882T>C (p.Asn1294=) c.787+5476T>C (n.787+5476T>C) c.3903T>C (p.Asn1301=) | |
| 8 | g.54627764T>G | CA370997482 | RP1 | c.3882T>G (p.Asn1294Lys) c.787+5476T>G (n.787+5476T>G) c.3903T>G (p.Asn1301Lys) | dbSNP |
| 8 | g.54627765_54627775del | CA645560580 | RP1 | c.3883_3893del (p.Lys1295ProfsTer9) c.787+5477_787+5487del (n.787+5477_787+5487del) c.3904_3914del (p.Lys1302ProfsTer9) | COSMIC |