3 | g.129530996G>A | CA358695 | RHO | c.482G>A (p.Trp161Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.129530996G>C | CA354498515 | RHO | c.482G>C (p.Trp161Ser)
| |
3 | g.129530996G= | CA1401209491 | RHO | c.482G= (p.Trp161=)
| |
3 | g.129530996G>T | CA354498518 | RHO | c.482G>T (p.Trp161Leu)
| |
3 | g.129530997G>A | CA354498521 | RHO | c.483G>A (p.Trp161Ter)
| |
3 | g.129530997G>C | CA2607169 | RHO | c.483G>C (p.Trp161Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129530997G= | CA1401209495 | RHO | c.483G= (p.Trp161=)
| |
3 | g.129530997G>T | CA354498523 | RHO | c.483G>T (p.Trp161Cys)
| |
3 | g.129530998G>A | CA354498525 | RHO | c.484G>A (p.Val162Ile)
| dbSNP |
3 | g.129530998G>C | CA82648646 | RHO | c.484G>C (p.Val162Leu)
| dbSNP gnomAD v4 |
3 | g.129530998G= | CA1401209497 | RHO | c.484G= (p.Val162=)
| |
3 | g.129530998G>T | CA354498528 | RHO | c.484G>T (p.Val162Phe)
| |
3 | g.129530999T>A | CA354498534 | RHO | c.485T>A (p.Val162Asp)
| |
3 | g.129530999T>C | CA354498538 | RHO | c.485T>C (p.Val162Ala)
| |
3 | g.129530999T>G | CA354498541 | RHO | c.485T>G (p.Val162Gly)
| |
3 | g.129531000C>A | CA435644102 | RHO | c.486C>A (p.Val162=)
| |
3 | g.129531000C= | CA1401209505 | RHO | c.486C= (p.Val162=)
| |
3 | g.129531000C>G | CA2607171 | RHO | c.486C>G (p.Val162=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129531000C>T | CA2607170 | RHO | c.486C>T (p.Val162=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129531001A= | CA1401209513 | RHO | c.487A= (p.Met163=)
| |
3 | g.129531001A>C | CA354498549 | RHO | c.487A>C (p.Met163Leu)
| |
3 | g.129531001A>G | CA354498550 | RHO | c.487A>G (p.Met163Val)
| |
3 | g.129531001A>T | CA354498554 | RHO | c.487A>T (p.Met163Leu)
| dbSNP |
3 | g.129531002T>A | CA354498555 | RHO | c.488T>A (p.Met163Lys)
| |
3 | g.129531002T>C | CA354498556 | RHO | c.488T>C (p.Met163Thr)
| |
3 | g.129531002T>G | CA354498558 | RHO | c.488T>G (p.Met163Arg)
| |
3 | g.129531003G>A | CA2607172 | RHO | c.489G>A (p.Met163Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531003G>C | CA354498564 | RHO | c.489G>C (p.Met163Ile)
| |
3 | g.129531003G= | CA1401209519 | RHO | c.489G= (p.Met163=)
| |
3 | g.129531003G>T | CA354498561 | RHO | c.489G>T (p.Met163Ile)
| COSMIC |
3 | g.129531004G>A | CA354498579 | RHO | c.490G>A (p.Ala164Thr)
| |
3 | g.129531004G>C | CA354498569 | RHO | c.490G>C (p.Ala164Pro)
| |
3 | g.129531004G>T | CA354498575 | RHO | c.490G>T (p.Ala164Ser)
| |
3 | g.129531005C>A | CA256689 | RHO | c.491C>A (p.Ala164Glu)
| ClinVar dbSNP |
3 | g.129531005C= | CA1401209527 | RHO | c.491C= (p.Ala164=)
| |
3 | g.129531005C>G | CA354498584 | RHO | c.491C>G (p.Ala164Gly)
| |
3 | g.129531005C>T | CA16616904 | RHO | c.491C>T (p.Ala164Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531006G>A | CA82648684 | RHO | c.492G>A (p.Ala164=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.129531006G>C | CA435644123 | RHO | c.492G>C (p.Ala164=)
| |
3 | g.129531006G= | CA1401209537 | RHO | c.492G= (p.Ala164=)
| |
3 | g.129531006G>T | CA435644125 | RHO | c.492G>T (p.Ala164=)
| gnomAD v4 |
3 | g.129531007C>A | CA354498601 | RHO | c.493C>A (p.Leu165Met)
| |
3 | g.129531007C>G | CA354498604 | RHO | c.493C>G (p.Leu165Val)
| |
3 | g.129531007C>T | CA435644133 | RHO | c.493C>T (p.Leu165=)
| dbSNP |
3 | g.129531008T>A | CA354498606 | RHO | c.494T>A (p.Leu165Gln)
| |
3 | g.129531008T>C | CA354498614 | RHO | c.494T>C (p.Leu165Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531008T>G | CA354498612 | RHO | c.494T>G (p.Leu165Arg)
| |
3 | g.129531008T= | CA1401209541 | RHO | c.494T= (p.Leu165=)
| |
3 | g.129531009G>A | CA435644135 | RHO | c.495G>A (p.Leu165=)
| |
3 | g.129531009G>C | CA435644136 | RHO | c.495G>C (p.Leu165=)
| |
3 | g.129531009G= | CA1401209546 | RHO | c.495G= (p.Leu165=)
| |
3 | g.129531009G>T | CA2607173 | RHO | c.495G>T (p.Leu165=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531010G>A | CA354498619 | RHO | c.496G>A (p.Ala166Thr)
| |
3 | g.129531010G>C | CA354498621 | RHO | c.496G>C (p.Ala166Pro)
| |
3 | g.129531010G>T | CA354498626 | RHO | c.496G>T (p.Ala166Ser)
| |
3 | g.129531011C>A | CA354498629 | RHO | c.497C>A (p.Ala166Asp)
| |
3 | g.129531011C= | CA1401209554 | RHO | c.497C= (p.Ala166=)
| |
3 | g.129531011C>G | CA354498636 | RHO | c.497C>G (p.Ala166Gly)
| |
3 | g.129531011C>T | CA354498630 | RHO | c.497C>T (p.Ala166Val)
| ClinVar dbSNP |
3 | g.129531012C>A | CA435644150 | RHO | c.498C>A (p.Ala166=)
| |
3 | g.129531012C>G | CA435644151 | RHO | c.498C>G (p.Ala166=)
| |
3 | g.129531012C>T | CA435644154 | RHO | c.498C>T (p.Ala166=)
| |
3 | g.129531013T>A | CA354498637 | RHO | c.499T>A (p.Cys167Ser)
| |
3 | g.129531013T>C | CA354498638 | RHO | c.499T>C (p.Cys167Arg)
| |
3 | g.129531013T>G | CA354498642 | RHO | c.499T>G (p.Cys167Gly)
| |
3 | g.129531013_129531018delinsTGCGCC | CA1401209559 | RHO | c.499_504delinsTGCGCC (p.Cys167=)
| |
3 | g.129531014G>A | CA354498646 | RHO | c.500G>A (p.Cys167Tyr)
| |
3 | g.129531014G>C | CA354498651 | RHO | c.500G>C (p.Cys167Ser)
| |
3 | g.129531014G>T | CA354498653 | RHO | c.500G>T (p.Cys167Phe)
| |
3 | g.129531016_129531020del | CA898752188 | RHO | c.502_506del (p.Ala168ThrfsTer?)
| dbSNP |
3 | g.129531015C>A | CA354498655 | RHO | c.501C>A (p.Cys167Ter)
| dbSNP |
3 | g.129531015C= | CA1401209566 | RHO | c.501C= (p.Cys167=)
| |
3 | g.129531015C>G | CA354498662 | RHO | c.501C>G (p.Cys167Trp)
| ClinVar dbSNP |
3 | g.129531015C>T | CA2607174 | RHO | c.501C>T (p.Cys167=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129531016G>A | CA2607175 | RHO | c.502G>A (p.Ala168Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531016G>C | CA354498673 | RHO | c.502G>C (p.Ala168Pro)
| ClinVar |
3 | g.129531016G= | CA1401209573 | RHO | c.502G= (p.Ala168=)
| |
3 | g.129531016G>T | CA354498675 | RHO | c.502G>T (p.Ala168Ser)
| |
3 | g.129531017C>A | CA354498677 | RHO | c.503C>A (p.Ala168Asp)
| |
3 | g.129531017C>G | CA354498678 | RHO | c.503C>G (p.Ala168Gly)
| |
3 | g.129531017C>T | CA354498676 | RHO | c.503C>T (p.Ala168Val)
| |
3 | g.129531018C>A | CA435644170 | RHO | c.504C>A (p.Ala168=)
| |
3 | g.129531018C= | CA1401209580 | RHO | c.504C= (p.Ala168=)
| |
3 | g.129531018C>G | CA435644172 | RHO | c.504C>G (p.Ala168=)
| |
3 | g.129531018C>T | CA2607176 | RHO | c.504C>T (p.Ala168=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531019G>A | CA2607177 | RHO | c.505G>A (p.Ala169Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531019G>C | CA354498681 | RHO | c.505G>C (p.Ala169Pro)
| ClinVar |
3 | g.129531019G= | CA1401209588 | RHO | c.505G= (p.Ala169=)
| |
3 | g.129531019G>T | CA354498688 | RHO | c.505G>T (p.Ala169Ser)
| |
3 | g.129531020C>A | CA354498698 | RHO | c.506C>A (p.Ala169Glu)
| |
3 | g.129531020C>G | CA354498700 | RHO | c.506C>G (p.Ala169Gly)
| |
3 | g.129531020C>T | CA354498702 | RHO | c.506C>T (p.Ala169Val)
| gnomAD v4 |
3 | g.129531021A>C | CA435644183 | RHO | c.507A>C (p.Ala169=)
| |
3 | g.129531021A>G | CA435644186 | RHO | c.507A>G (p.Ala169=)
| |
3 | g.129531021A>T | CA435644189 | RHO | c.507A>T (p.Ala169=)
| dbSNP |
3 | g.129531022C>A | CA354498715 | RHO | c.508C>A (p.Pro170Thr)
| gnomAD v4 |
3 | g.129531022C= | CA1401209593 | RHO | c.508C= (p.Pro170=)
| |
3 | g.129531022C>G | CA354498713 | RHO | c.508C>G (p.Pro170Ala)
| dbSNP gnomAD v4 |
3 | g.129531022C>T | CA354498705 | RHO | c.508C>T (p.Pro170Ser)
| |
3 | g.129531026dup | CA2840853107 | RHO | c.512dup (p.Leu172ThrfsTer?)
| |
3 | g.129531026del | CA2839567200 | RHO | c.512del (p.Pro171HisfsTer?)
| |
3 | g.129531023C>A | CA354498717 | RHO | c.509C>A (p.Pro170His)
| |
3 | g.129531023C= | CA1401209596 | RHO | c.509C= (p.Pro170=)
| |
3 | g.129531023C>G | CA354498718 | RHO | c.509C>G (p.Pro170Arg)
| ClinVar dbSNP gnomAD v4 |
3 | g.129531023C>T | CA354498719 | RHO | c.509C>T (p.Pro170Leu)
| |
3 | g.129531024C>A | CA435644198 | RHO | c.510C>A (p.Pro170=)
| |
3 | g.129531024C>G | CA435644199 | RHO | c.510C>G (p.Pro170=)
| |
3 | g.129531024C>T | CA435644200 | RHO | c.510C>T (p.Pro170=)
| |
3 | g.129531025C>A | CA354498720 | RHO | c.511C>A (p.Pro171Thr)
| ClinVar gnomAD v4 |
3 | g.129531025C= | CA1401209602 | RHO | c.511C= (p.Pro171=)
| |
3 | g.129531025C>G | CA354498722 | RHO | c.511C>G (p.Pro171Ala)
| |
3 | g.129531025C>T | CA256690 | RHO | c.511C>T (p.Pro171Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.129531025_129531026delinsGA | CA2579758052 | RHO | c.511_512delinsGA (p.Pro171Glu)
| |
3 | g.129531026C>A | CA354498726 | RHO | c.512C>A (p.Pro171Gln)
| ClinVar dbSNP |
3 | g.129531026C= | CA1401209615 | RHO | c.512C= (p.Pro171=)
| |
3 | g.129531026C>G | CA354498731 | RHO | c.512C>G (p.Pro171Arg)
| ClinVar dbSNP gnomAD v4 |
3 | g.129531026C>T | CA354498729 | RHO | c.512C>T (p.Pro171Leu)
| ClinVar dbSNP gnomAD v4 |
3 | g.129531027A>C | CA435644208 | RHO | c.513A>C (p.Pro171=)
| dbSNP COSMIC |
3 | g.129531027A>G | CA435644209 | RHO | c.513A>G (p.Pro171=)
| |
3 | g.129531027A>T | CA435644212 | RHO | c.513A>T (p.Pro171=)
| |
3 | g.129531028C>A | CA354498737 | RHO | c.514C>A (p.Leu172Ile)
| |
3 | g.129531028C= | CA1401209622 | RHO | c.514C= (p.Leu172=)
| |
3 | g.129531028C>G | CA354498741 | RHO | c.514C>G (p.Leu172Val)
| |
3 | g.129531028C>T | CA2607178 | RHO | c.514C>T (p.Leu172Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129531028_129531030del | CA2667616387 | RHO | c.514_516del (p.Leu172del)
| gnomAD v4 |
3 | g.129531029T>A | CA354498743 | RHO | c.515T>A (p.Leu172His)
| |
3 | g.129531029T>C | CA354498744 | RHO | c.515T>C (p.Leu172Pro)
| ClinVar dbSNP |
3 | g.129531029T>G | CA354498745 | RHO | c.515T>G (p.Leu172Arg)
| |
3 | g.129531029T= | CA1401209625 | RHO | c.515T= (p.Leu172=)
| |
3 | g.129531030C>A | CA435644229 | RHO | c.516C>A (p.Leu172=)
| |
3 | g.129531030C= | CA1401209628 | RHO | c.516C= (p.Leu172=)
| |
3 | g.129531030C>G | CA435644231 | RHO | c.516C>G (p.Leu172=)
| |
3 | g.129531030C>T | CA2607179 | RHO | c.516C>T (p.Leu172=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531031G>A | CA2607180 | RHO | c.517G>A (p.Ala173Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.129531031G>C | CA354498751 | RHO | c.517G>C (p.Ala173Pro)
| ClinVar dbSNP |
3 | g.129531031G= | CA1401209630 | RHO | c.517G= (p.Ala173=)
| |
3 | g.129531031G>T | CA354498752 | RHO | c.517G>T (p.Ala173Ser)
| |
3 | g.129531031_129531032insGT | CA2667616410 | RHO | c.517_518insGT (p.Ala173GlyfsTer?)
| gnomAD v4 |
3 | g.129531032C>A | CA354498761 | RHO | c.518C>A (p.Ala173Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531032C= | CA1401209637 | RHO | c.518C= (p.Ala173=)
| |
3 | g.129531032C>G | CA354498759 | RHO | c.518C>G (p.Ala173Gly)
| gnomAD v4 |
3 | g.129531032C>T | CA354498754 | RHO | c.518C>T (p.Ala173Val)
| ClinVar dbSNP gnomAD v4 |
3 | g.129531033C>A | CA435644244 | RHO | c.519C>A (p.Ala173=)
| |
3 | g.129531033C= | CA1401209643 | RHO | c.519C= (p.Ala173=)
| |
3 | g.129531033C>G | CA435644246 | RHO | c.519C>G (p.Ala173=)
| |
3 | g.129531033C>T | CA2607181 | RHO | c.519C>T (p.Ala173=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531034G>A | CA270023 | RHO | c.520G>A (p.Gly174Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129531034G>C | CA354498773 | RHO | c.520G>C (p.Gly174Arg)
| ClinVar |
3 | g.129531034G= | CA1401209653 | RHO | c.520G= (p.Gly174=)
| |
3 | g.129531034G>T | CA354498775 | RHO | c.520G>T (p.Gly174Cys)
| |
3 | g.129531035del | CA2667616430 | RHO | c.521del (p.Gly174AlafsTer?)
| gnomAD v4 |
3 | g.129531035G>A | CA354498779 | RHO | c.521G>A (p.Gly174Asp)
| |
3 | g.129531035G>C | CA354498783 | RHO | c.521G>C (p.Gly174Ala)
| |
3 | g.129531035G>T | CA354498786 | RHO | c.521G>T (p.Gly174Val)
| gnomAD v4 |
3 | g.129531036C>A | CA435644260 | RHO | c.522C>A (p.Gly174=)
| |
3 | g.129531036C>G | CA435644264 | RHO | c.522C>G (p.Gly174=)
| |
3 | g.129531036C>T | CA435644266 | RHO | c.522C>T (p.Gly174=)
| gnomAD v4 |
3 | g.129531037T>A | CA354498788 | RHO | c.523T>A (p.Trp175Arg)
| |
3 | g.129531037T>C | CA354498791 | RHO | c.523T>C (p.Trp175Arg)
| |
3 | g.129531037T>G | CA354498792 | RHO | c.523T>G (p.Trp175Gly)
| |
3 | g.129531038G>A | CA354498794 | RHO | c.524G>A (p.Trp175Ter)
| |
3 | g.129531038G>C | CA354498796 | RHO | c.524G>C (p.Trp175Ser)
| |
3 | g.129531038G= | CA1401209659 | RHO | c.524G= (p.Trp175=)
| |
3 | g.129531038G>T | CA2607182 | RHO | c.524G>T (p.Trp175Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531039G>A | CA354498808 | RHO | c.525G>A (p.Trp175Ter)
| |
3 | g.129531039G>C | CA354498798 | RHO | c.525G>C (p.Trp175Cys)
| |
3 | g.129531039G>T | CA354498805 | RHO | c.525G>T (p.Trp175Cys)
| |
3 | g.129531040T>A | CA354498810 | RHO | c.526T>A (p.Ser176Thr)
| |
3 | g.129531040T>C | CA354498814 | RHO | c.526T>C (p.Ser176Pro)
| |
3 | g.129531040T>G | CA354498817 | RHO | c.526T>G (p.Ser176Ala)
| dbSNP |
3 | g.129531040T= | CA1401209662 | RHO | c.526T= (p.Ser176=)
| |
3 | g.129531041C>A | CA354498819 | RHO | c.527C>A (p.Ser176Tyr)
| |
3 | g.129531041C= | CA1401209667 | RHO | c.527C= (p.Ser176=)
| |
3 | g.129531041C>G | CA354498823 | RHO | c.527C>G (p.Ser176Cys)
| |
3 | g.129531041C>T | CA354498825 | RHO | c.527C>T (p.Ser176Phe)
| ClinVar dbSNP |
3 | g.129531042C>A | CA435644291 | RHO | c.528C>A (p.Ser176=)
| |
3 | g.129531042C= | CA1401209673 | RHO | c.528C= (p.Ser176=)
| |
3 | g.129531042C>G | CA435644293 | RHO | c.528C>G (p.Ser176=)
| |
3 | g.129531042C>T | CA2607183 | RHO | c.528C>T (p.Ser176=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531043A= | CA1401209676 | RHO | c.529A= (p.Arg177=)
| |
3 | g.129531043A>C | CA435644296 | RHO | c.529A>C (p.Arg177=)
| dbSNP |
3 | g.129531043A>G | CA354498837 | RHO | c.529A>G (p.Arg177Gly)
| |
3 | g.129531043A>T | CA354498840 | RHO | c.529A>T (p.Arg177Trp)
| |
3 | g.129531044G>A | CA2607184 | RHO | c.530G>A (p.Arg177Lys)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.129531044G>C | CA354498843 | RHO | c.530G>C (p.Arg177Thr)
| |
3 | g.129531044G= | CA1401209681 | RHO | c.530G= (p.Arg177=)
| |
3 | g.129531044G>T | CA354498845 | RHO | c.530G>T (p.Arg177Met)
| |
3 | g.129531045G>A | CA354498848 | RHO | c.530+1G>A (n.530+1G>A)
| dbSNP |
3 | g.129531045G>C | CA354498855 | RHO | c.530+1G>C (n.530+1G>C)
| ClinVar dbSNP |
3 | g.129531045G>T | CA354498851 | RHO | c.530+1G>T (n.530+1G>T)
| |
3 | g.129531046T>A | CA354498858 | RHO | c.530+2T>A (n.530+2T>A)
| |
3 | g.129531046T>C | CA354498862 | RHO | c.530+2T>C (n.530+2T>C)
| |
3 | g.129531046T>G | CA354498859 | RHO | c.530+2T>G (n.530+2T>G)
| dbSNP |
3 | g.129531046T= | CA1401209684 | RHO | c.530+2T= (n.530+2T=)
| |
3 | g.129531048A= | CA1401209686 | RHO | c.530+4A= (n.530+4A=)
| |
3 | g.129531048A>C | CA898752293 | RHO | c.530+4A>C (n.530+4A>C)
| dbSNP gnomAD v4 |
3 | g.129531048A>T | CA2840853108 | RHO | c.530+4A>T (n.530+4A>T)
| |
3 | g.129531049T>C | CA2607185 | RHO | c.530+5T>C (n.530+5T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531049T= | CA1401209689 | RHO | c.530+5T= (n.530+5T=)
| |
3 | g.129531050G>A | CA2667616453 | RHO | c.530+6G>A (n.530+6G>A)
| gnomAD v4 |
3 | g.129531051G>T | CA2839197796 | RHO | c.530+7G>T (n.530+7G>T)
| |
3 | g.129531053A= | CA1401209695 | RHO | c.530+9A= (n.530+9A=)
| |
3 | g.129531053A>C | CA2607186 | RHO | c.530+9A>C (n.530+9A>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129531053A>G | CA2840853109 | RHO | c.530+9A>G (n.530+9A>G)
| |
3 | g.129531054C= | CA1401209699 | RHO | c.530+10C= (n.530+10C=)
| |
3 | g.129531054C>T | CA898752300 | RHO | c.530+10C>T (n.530+10C>T)
| dbSNP gnomAD v4 |
3 | g.129531056G>T | CA2704001557 | RHO | c.530+12G>T (n.530+12G>T)
| dbSNP |
3 | g.129531057A>G | CA2758363933 | RHO | c.530+13A>G (n.530+13A>G)
| |
3 | g.129531058G>A | CA546417816 | RHO | c.530+14G>A (n.530+14G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531058G= | CA1401209701 | RHO | c.530+14G= (n.530+14G=)
| |
3 | g.129531058G>T | CA2840853110 | RHO | c.530+14G>T (n.530+14G>T)
| |
3 | g.129531059C>A | CA2667616461 | RHO | c.530+15C>A (n.530+15C>A)
| gnomAD v4 |
3 | g.129531059C>T | CA2667616464 | RHO | c.530+15C>T (n.530+15C>T)
| gnomAD v4 |
3 | g.129531061G>A | CA2607187 | RHO | c.530+17G>A (n.530+17G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129531061G= | CA1401209703 | RHO | c.530+17G= (n.530+17G=)
| |
3 | g.129531062A>T | CA2667616467 | RHO | c.530+18A>T (n.530+18A>T)
| gnomAD v4 |
3 | g.129531064G>A | CA2607188 | RHO | c.530+20G>A (n.530+20G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531064G= | CA1401209705 | RHO | c.530+20G= (n.530+20G=)
| |
3 | g.129531064G>T | CA2838624585 | RHO | c.530+20G>T (n.530+20G>T)
| |
3 | g.129531065G>A | CA2704001667 | RHO | c.530+21G>A (n.530+21G>A)
| dbSNP |
3 | g.129531066G>A | CA546417817 | RHO | c.530+22G>A (n.530+22G>A)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.129531066G>C | CA2577961750 | RHO | c.530+22G>C (n.530+22G>C)
| gnomAD v4 |
3 | g.129531066G= | CA1401209706 | RHO | c.530+22G= (n.530+22G=)
| |
3 | g.129531068A>G | CA2667616474 | RHO | c.530+24A>G (n.530+24A>G)
| gnomAD v4 |
3 | g.129531069G>A | CA2607189 | RHO | c.530+25G>A (n.530+25G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531069G= | CA1401209709 | RHO | c.530+25G= (n.530+25G=)
| |
3 | g.129531070A= | CA1401209711 | RHO | c.530+26A= (n.530+26A=)
| |
3 | g.129531070A>G | CA898752316 | RHO | c.530+26A>G (n.530+26A>G)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129531070_129531071insC | CA2758363934 | RHO | c.530+26_530+27insC (n.530+26_530+27insC)
| |
3 | g.129531072G>A | CA82648840 | RHO | c.530+28G>A (n.530+28G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531072G= | CA1401209716 | RHO | c.530+28G= (n.530+28G=)
| |
3 | g.129531072G>T | CA2667616476 | RHO | c.530+28G>T (n.530+28G>T)
| gnomAD v4 |
3 | g.129531072_129531073insA | CA2758363935 | RHO | c.530+28_530+29insA (n.530+28_530+29insA)
| |
3 | g.129531073C>A | CA2667616478 | RHO | c.530+29C>A (n.530+29C>A)
| gnomAD v4 |
3 | g.129531073C= | CA1401209719 | RHO | c.530+29C= (n.530+29C=)
| |
3 | g.129531073C>T | CA82648848 | RHO | c.530+29C>T (n.530+29C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531074T>C | CA2607190 | RHO | c.530+30T>C (n.530+30T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129531074T= | CA1401209724 | RHO | c.530+30T= (n.530+30T=)
| |
3 | g.129531075C= | CA1401209727 | RHO | c.530+31C= (n.530+31C=)
| |
3 | g.129531075C>T | CA82648856 | RHO | c.530+31C>T (n.530+31C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531076_129531082del | CA2758363936 | RHO | c.530+32_530+38del (n.530+32_530+38del)
| |
3 | g.129531083_129531357del | CA2758363937 | RHO | c.530+39_530+313del (n.530+39_530+313del)
| |
3 | g.129531075_129531076insAGT | CA2758363938 | RHO | c.530+31_530+32insAGT (n.530+31_530+32insAGT)
| |
3 | g.129531076C>A | CA2758363939 | RHO | c.530+32C>A (n.530+32C>A)
| |
3 | g.129531076C= | CA1401209729 | RHO | c.530+32C= (n.530+32C=)
| |
3 | g.129531076C>G | CA2607191 | RHO | c.530+32C>G (n.530+32C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129531076C>T | CA2607192 | RHO | c.530+32C>T (n.530+32C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531077G>A | CA2607193 | RHO | c.530+33G>A (n.530+33G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531077G>C | CA2607194 | RHO | c.530+33G>C (n.530+33G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.129531077G= | CA1401209736 | RHO | c.530+33G= (n.530+33G=)
| |
3 | g.129531077G>T | CA2840853111 | RHO | c.530+33G>T (n.530+33G>T)
| |
3 | g.129531081dup | CA2832541489 | RHO | c.530+37dup (n.530+37dup)
| |
3 | g.129531081del | CA2667616485 | RHO | c.530+37del (n.530+37del)
| gnomAD v4 |
3 | g.129531080_129531093dup | CA2667616484 | RHO | c.530+36_530+49dup (n.530+36_530+49dup)
| gnomAD v4 |
3 | g.129531078G>C | CA2607195 | RHO | c.530+34G>C (n.530+34G>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.129531078G= | CA1401209738 | RHO | c.530+34G= (n.530+34G=)
| |
3 | g.129531078G>T | CA2667616487 | RHO | c.530+34G>T (n.530+34G>T)
| gnomAD v4 |
3 | g.129531078_129531084del | CA2758363941 | RHO | c.530+34_530+40del (n.530+34_530+40del)
| |
3 | g.129531078_129531079insA | CA2758363942 | RHO | c.530+34_530+35insA (n.530+34_530+35insA)
| |
3 | g.129531079G>A | CA1401209741 | RHO | c.530+35G>A (n.530+35G>A)
| dbSNP gnomAD v4 |
3 | g.129531079G= | CA1401209740 | RHO | c.530+35G= (n.530+35G=)
| |
3 | g.129531079_129531080insAGA | CA2758363943 | RHO | c.530+35_530+36insAGA (n.530+35_530+36insAGA)
| |
3 | g.129531081G>A | CA546417818 | RHO | c.530+37G>A (n.530+37G>A)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.129531081G= | CA1401209742 | RHO | c.530+37G= (n.530+37G=)
| |
3 | g.129531082C= | CA1401209745 | RHO | c.530+38C= (n.530+38C=)
| |
3 | g.129531082C>T | CA2607196 | RHO | c.530+38C>T (n.530+38C>T)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.129531083T>A | CA2758363944 | RHO | c.530+39T>A (n.530+39T>A)
| |
3 | g.129531083T>C | CA1401209749 | RHO | c.530+39T>C (n.530+39T>C)
| dbSNP |
3 | g.129531083T= | CA1401209748 | RHO | c.530+39T= (n.530+39T=)
| |
3 | g.129531084C>A | CA2838624587 | RHO | c.530+40C>A (n.530+40C>A)
| |
3 | g.129531084C= | CA1401209752 | RHO | c.530+40C= (n.530+40C=)
| |
3 | g.129531084C>G | CA546417819 | RHO | c.530+40C>G (n.530+40C>G)
| dbSNP gnomAD v2 gnomAD v4 |
3 | g.129531084C>T | CA2667616488 | RHO | c.530+40C>T (n.530+40C>T)
| gnomAD v4 |
3 | g.129531085T>C | CA1401209755 | RHO | c.530+41T>C (n.530+41T>C)
| dbSNP gnomAD v4 |
3 | g.129531085T= | CA1401209754 | RHO | c.530+41T= (n.530+41T=)
| |
3 | g.129531087del | CA2840853112 | RHO | c.530+43del (n.530+43del)
| |
3 | g.129531086T>C | CA1401209757 | RHO | c.530+42T>C (n.530+42T>C)
| dbSNP |
3 | g.129531086T>G | CA2667616490 | RHO | c.530+42T>G (n.530+42T>G)
| gnomAD v4 |
3 | g.129531086T= | CA1401209756 | RHO | c.530+42T= (n.530+42T=)
| |
3 | g.129531088G>A | CA82648911 | RHO | c.530+44G>A (n.530+44G>A)
| dbSNP |
3 | g.129531088G= | CA1401209758 | RHO | c.530+44G= (n.530+44G=)
| |
3 | g.129531088G>T | CA2667616491 | RHO | c.530+44G>T (n.530+44G>T)
| gnomAD v4 |
3 | g.129531089T>A | CA2667616492 | RHO | c.530+45T>A (n.530+45T>A)
| gnomAD v4 |
3 | g.129531090A>G | CA2667616494 | RHO | c.530+46A>G (n.530+46A>G)
| gnomAD v4 |
3 | g.129531091G>T | CA2577961751 | RHO | c.530+47G>T (n.530+47G>T)
| gnomAD v4 |
3 | g.129531091_129531095del | CA2758363945 | RHO | c.530+47_530+51del (n.530+47_530+51del)
| |
3 | g.129531092G>A | CA2667616495 | RHO | c.530+48G>A (n.530+48G>A)
| gnomAD v4 |
3 | g.129531093G>A | CA2667616497 | RHO | c.530+49G>A (n.530+49G>A)
| gnomAD v4 |
3 | g.129531093_129531096delinsGTCC | CA1401209759 | RHO | c.530+49_530+52delinsGTCC (n.530+49_530+52delinsGTCC)
| |
3 | g.129531094T>A | CA2758363947 | RHO | c.530+50T>A (n.530+50T>A)
| |
3 | g.129531094T>G | CA1401209760 | RHO | c.530+50T>G (n.530+50T>G)
| dbSNP |
3 | g.129531094T= | CA1401209762 | RHO | c.530+50T= (n.530+50T=)
| |
3 | g.129531094_129531097del | CA2758363946 | RHO | c.530+50_530+53del (n.530+50_530+53del)
| |
3 | g.129531097_129531099del | CA1401209761 | RHO | c.530+53_530+55del (n.530+53_530+55del)
| dbSNP |
3 | g.129531095C>A | CA2667616499 | RHO | c.530+51C>A (n.530+51C>A)
| gnomAD v4 |
3 | g.129531095C>T | CA2577961752 | RHO | c.530+51C>T (n.530+51C>T)
| |
3 | g.129531096C>A | CA2667616501 | RHO | c.530+52C>A (n.530+52C>A)
| gnomAD v4 |
3 | g.129531096C= | CA1401209763 | RHO | c.530+52C= (n.530+52C=)
| |
3 | g.129531096C>G | CA1053436043 | RHO | c.530+52C>G (n.530+52C>G)
| dbSNP gnomAD v3 gnomAD v4 |
3 | g.129531096C>T | CA1401209764 | RHO | c.530+52C>T (n.530+52C>T)
| dbSNP |