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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 |
|---|---|---|---|---|---|
| 3 | g.129529084_129529096delinsCACCCTGGGCGGT | CA1401206216 | RHO | c.351_361+2delinsCACCCTGGGCGGT | |
| 3 | g.129529086_129529097del | CA1139655816 | RHO | c.353_361+3del | ClinVar dbSNP |
| 3 | g.129529089del | CA2758363651 | RHO | c.356del (p.Leu119ArgfsTer25) | |
| 3 | g.129529089T>A | CA354497022 | RHO | c.356T>A (p.Leu119Gln) | |
| 3 | g.129529089T>C | CA354497023 | RHO | c.356T>C (p.Leu119Pro) | |
| 3 | g.129529089T>G | CA354497024 | RHO | c.356T>G (p.Leu119Arg) | |
| 3 | g.129529089_129529090delinsTG | CA1401206235 | RHO | c.356_357delinsTG (p.Leu119=) | |
| 3 | g.129529090G>A | CA435768850 | RHO | c.357G>A (p.Leu119=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529090G>C | CA435768851 | RHO | c.357G>C (p.Leu119=) | |
| 3 | g.129529090G= | CA1401206248 | RHO | c.357G= (p.Leu119=) | |
| 3 | g.129529090G>T | CA435768853 | RHO | c.357G>T (p.Leu119=) | gnomAD v4 |
| 3 | g.129529092del | CA16042497 | RHO | c.359del (p.Gly120AlafsTer24) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129529091G>A | CA354497028 | RHO | c.358G>A (p.Gly120Ser) | gnomAD v4 |
| 3 | g.129529091G>C | CA354497031 | RHO | c.358G>C (p.Gly120Arg) | |
| 3 | g.129529091G= | CA1401206258 | RHO | c.358G= (p.Gly120=) | |
| 3 | g.129529091G>T | CA354497030 | RHO | c.358G>T (p.Gly120Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129529092G>A | CA2607117 | RHO | c.359G>A (p.Gly120Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529092G>C | CA82647107 | RHO | c.359G>C (p.Gly120Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129529092G= | CA1401206262 | RHO | c.359G= (p.Gly120=) | |
| 3 | g.129529092G>T | CA354497037 | RHO | c.359G>T (p.Gly120Val) | |
| 3 | g.129529093C>A | CA2607118 | RHO | c.360C>A (p.Gly120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529093C= | CA1401206267 | RHO | c.360C= (p.Gly120=) | |
| 3 | g.129529093C>G | CA435768857 | RHO | c.360C>G (p.Gly120=) | dbSNP |
| 3 | g.129529093C>T | CA238621 | RHO | c.360C>T (p.Gly120=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529094G>A | CA2607119 | RHO | c.361G>A (p.Gly121Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129529094G>C | CA354497044 | RHO | c.361G>C (p.Gly121Arg) | |
| 3 | g.129529094G= | CA1401206277 | RHO | c.361G= (p.Gly121=) | |
| 3 | g.129529094G>T | CA354497045 | RHO | c.361G>T (p.Gly121Cys) | gnomAD v4 |
| 3 | g.129529095G>A | CA354497047 | RHO | c.361+1G>A (n.361+1G>A) | ClinVar gnomAD v4 |
| 3 | g.129529095G>C | CA354497053 | RHO | c.361+1G>C (n.361+1G>C) | |
| 3 | g.129529095G>T | CA354497059 | RHO | c.361+1G>T (n.361+1G>T) | |
| 3 | g.129529096T>A | CA354497061 | RHO | c.361+2T>A (n.361+2T>A) | |
| 3 | g.129529096T>C | CA354497065 | RHO | c.361+2T>C (n.361+2T>C) | |
| 3 | g.129529096T>G | CA354497064 | RHO | c.361+2T>G (n.361+2T>G) | |
| 3 | g.129529098T>A | CA2838548211 | RHO | c.361+4T>A (n.361+4T>A) | |
| 3 | g.129529099G>A | CA1401206284 | RHO | c.361+5G>A (n.361+5G>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129529099G>C | CA1401206283 | RHO | c.361+5G>C (n.361+5G>C) | dbSNP |
| 3 | g.129529099G= | CA1401206285 | RHO | c.361+5G= (n.361+5G=) | |
| 3 | g.129529099G>T | CA2667615660 | RHO | c.361+5G>T (n.361+5G>T) | gnomAD v4 |
| 3 | g.129529100A>C | CA2758363658 | RHO | c.361+6A>C (n.361+6A>C) | |
| 3 | g.129529101G>A | CA2758363659 | RHO | c.361+7G>A (n.361+7G>A) | |
| 3 | g.129529101G>T | CA2667615661 | RHO | c.361+7G>T (n.361+7G>T) | gnomAD v4 |
| 3 | g.129529101_129529102insACA | CA2758363664 | RHO | c.361+7_361+8insACA (n.361+7_361+8insACA) | |
| 3 | g.129529102C= | CA1401206286 | RHO | c.361+8C= (n.361+8C=) | |
| 3 | g.129529102C>G | CA2667615662 | RHO | c.361+8C>G (n.361+8C>G) | gnomAD v4 |
| 3 | g.129529102C>T | CA546417606 | RHO | c.361+8C>T (n.361+8C>T) | dbSNP gnomAD v2 |
| 3 | g.129529103C= | CA1401206296 | RHO | c.361+9C= (n.361+9C=) | |
| 3 | g.129529103C>T | CA2607121 | RHO | c.361+9C>T (n.361+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529103_129529105delinsCGG | CA1401206291 | RHO | c.361+9_361+11delinsCGG (n.361+9_361+11delinsCGG) | |
| 3 | g.129529104G>A | CA2607122 | RHO | c.361+10G>A (n.361+10G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529104G>C | CA1401206320 | RHO | c.361+10G>C (n.361+10G>C) | dbSNP gnomAD v4 |
| 3 | g.129529104G= | CA1401206316 | RHO | c.361+10G= (n.361+10G=) | |
| 3 | g.129529104G>T | CA82647132 | RHO | c.361+10G>T (n.361+10G>T) | dbSNP gnomAD v4 |
| 3 | g.129529106del | CA2607120 | RHO | c.361+12del (n.361+12del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529105_129529106del | CA1401206313 | RHO | c.361+11_361+12del (n.361+11_361+12del) | dbSNP |
| 3 | g.129529105G= | CA1401206325 | RHO | c.361+11G= (n.361+11G=) | |
| 3 | g.129529105G>T | CA546417607 | RHO | c.361+11G>T (n.361+11G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529106G>A | CA2704008221 | RHO | c.361+12G>A (n.361+12G>A) | dbSNP |
| 3 | g.129529107T>C | CA546417608 | RHO | c.361+13T>C (n.361+13T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129529107T= | CA1401206329 | RHO | c.361+13T= (n.361+13T=) | |
| 3 | g.129529108G>A | CA2607123 | RHO | c.361+14G>A (n.361+14G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529108G= | CA1401206335 | RHO | c.361+14G= (n.361+14G=) | |
| 3 | g.129529109T>C | CA2667615679 | RHO | c.361+15T>C (n.361+15T>C) | gnomAD v4 |
| 3 | g.129529110G>A | CA2840239267 | RHO | c.361+16G>A (n.361+16G>A) | |
| 3 | g.129529110G>T | CA2667615680 | RHO | c.361+16G>T (n.361+16G>T) | gnomAD v4 |
| 3 | g.129529111G>C | CA2667615681 | RHO | c.361+17G>C (n.361+17G>C) | gnomAD v4 |
| 3 | g.129529111G>T | CA2667615682 | RHO | c.361+17G>T (n.361+17G>T) | gnomAD v4 |
| 3 | g.129529112G>A | CA2577961726 | RHO | c.361+18G>A (n.361+18G>A) | gnomAD v4 |
| 3 | g.129529112G>T | CA2667615684 | RHO | c.361+18G>T (n.361+18G>T) | gnomAD v4 |
| 3 | g.129529113T>C | CA1401206339 | RHO | c.361+19T>C (n.361+19T>C) | dbSNP |
| 3 | g.129529113T= | CA1401206337 | RHO | c.361+19T= (n.361+19T=) | |
| 3 | g.129529114G>A | CA2667615688 | RHO | c.361+20G>A (n.361+20G>A) | gnomAD v4 |
| 3 | g.129529117del | CA2667615686 | RHO | c.361+23del (n.361+23del) | gnomAD v4 |
| 3 | g.129529115G>A | CA2667615690 | RHO | c.361+21G>A (n.361+21G>A) | gnomAD v4 |
| 3 | g.129529115G>T | CA2839610158 | RHO | c.361+21G>T (n.361+21G>T) | |
| 3 | g.129529116G>A | CA2667615691 | RHO | c.361+22G>A (n.361+22G>A) | gnomAD v4 |
| 3 | g.129529116G>C | CA2607124 | RHO | c.361+22G>C (n.361+22G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529116G= | CA1401206344 | RHO | c.361+22G= (n.361+22G=) | |
| 3 | g.129529116G>T | CA2667615692 | RHO | c.361+22G>T (n.361+22G>T) | gnomAD v4 |
| 3 | g.129529117_129529119del | CA2667615694 | RHO | c.361+23_361+25del (n.361+23_361+25del) | gnomAD v4 |
| 3 | g.129529117G>A | CA2667615699 | RHO | c.361+23G>A (n.361+23G>A) | gnomAD v4 |
| 3 | g.129529119G>A | CA2607125 | RHO | c.361+25G>A (n.361+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129529119G= | CA1401206351 | RHO | c.361+25G= (n.361+25G=) | |
| 3 | g.129529119G>T | CA2838210961 | RHO | c.361+25G>T (n.361+25G>T) | |
| 3 | g.129529121G>A | CA2667615707 | RHO | c.361+27G>A (n.361+27G>A) | gnomAD v4 |
| 3 | g.129529121G= | CA1401206355 | RHO | c.361+27G= (n.361+27G=) | |
| 3 | g.129529121G>T | CA2607126 | RHO | c.361+27G>T (n.361+27G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529122C>A | CA2667615712 | RHO | c.361+28C>A (n.361+28C>A) | gnomAD v4 |
| 3 | g.129529122C>T | CA2667615715 | RHO | c.361+28C>T (n.361+28C>T) | gnomAD v4 |
| 3 | g.129529123A= | CA1401206358 | RHO | c.361+29A= (n.361+29A=) | |
| 3 | g.129529123A>G | CA898750679 | RHO | c.361+29A>G (n.361+29A>G) | dbSNP gnomAD v4 |
| 3 | g.129529124G>A | CA2667615716 | RHO | c.361+30G>A (n.361+30G>A) | gnomAD v4 |
| 3 | g.129529124G>T | CA2667615717 | RHO | c.361+30G>T (n.361+30G>T) | gnomAD v4 |
| 3 | g.129529125G>A | CA2607127 | RHO | c.361+31G>A (n.361+31G>A) | dbSNP ExAC gnomAD v4 |
| 3 | g.129529125G= | CA1401206364 | RHO | c.361+31G= (n.361+31G=) | |
| 3 | g.129529127G>A | CA2607128 | RHO | c.361+33G>A (n.361+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129529127G= | CA1401206369 | RHO | c.361+33G= (n.361+33G=) | |
| 3 | g.129529127G>T | CA1401206386 | RHO | c.361+33G>T (n.361+33G>T) | dbSNP gnomAD v4 |
| 3 | g.129529128C= | CA1401206392 | RHO | c.361+34C= (n.361+34C=) | |
| 3 | g.129529128C>G | CA546417609 | RHO | c.361+34C>G (n.361+34C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529128C>T | CA2607129 | RHO | c.361+34C>T (n.361+34C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529128_129529129insACAA | CA2758363666 | RHO | c.361+34_361+35insACAA (n.361+34_361+35insACAA) | |
| 3 | g.129529129C= | CA1401206400 | RHO | c.361+35C= (n.361+35C=) | |
| 3 | g.129529129C>T | CA2607130 | RHO | c.361+35C>T (n.361+35C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529130C= | CA1401206403 | RHO | c.361+36C= (n.361+36C=) | |
| 3 | g.129529130C>G | CA2758363667 | RHO | c.361+36C>G (n.361+36C>G) | |
| 3 | g.129529130C>T | CA2607131 | RHO | c.361+36C>T (n.361+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529131G>A | CA2607132 | RHO | c.361+37G>A (n.361+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529131G>C | CA2551483006 | RHO | c.361+37G>C (n.361+37G>C) | |
| 3 | g.129529131G= | CA1401206406 | RHO | c.361+37G= (n.361+37G=) | |
| 3 | g.129529133del | CA2758363668 | RHO | c.361+39del (n.361+39del) | |
| 3 | g.129529132G>T | CA2840239268 | RHO | c.361+38G>T (n.361+38G>T) | |
| 3 | g.129529133G>A | CA898750685 | RHO | c.361+39G>A (n.361+39G>A) | dbSNP |
| 3 | g.129529133G= | CA1401206432 | RHO | c.361+39G= (n.361+39G=) | |
| 3 | g.129529134A>G | CA2840239269 | RHO | c.361+40A>G (n.361+40A>G) | |
| 3 | g.129529135del | CA2758363670 | RHO | c.361+41del (n.361+41del) | |
| 3 | g.129529135G>A | CA546417610 | RHO | c.361+41G>A (n.361+41G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529135G= | CA1401206435 | RHO | c.361+41G= (n.361+41G=) | |
| 3 | g.129529135G>T | CA2577961727 | RHO | c.361+41G>T (n.361+41G>T) | gnomAD v4 |
| 3 | g.129529136C>A | CA2667615718 | RHO | c.361+42C>A (n.361+42C>A) | gnomAD v4 |
| 3 | g.129529136C>T | CA2667615719 | RHO | c.361+42C>T (n.361+42C>T) | gnomAD v4 |
| 3 | g.129529137A= | CA1401206438 | RHO | c.361+43A= (n.361+43A=) | |
| 3 | g.129529137A>G | CA2667615722 | RHO | c.361+43A>G (n.361+43A>G) | gnomAD v4 |
| 3 | g.129529137A>T | CA1401206439 | RHO | c.361+43A>T (n.361+43A>T) | dbSNP gnomAD v4 |
| 3 | g.129529138T>A | CA2667615723 | RHO | c.361+44T>A (n.361+44T>A) | gnomAD v4 |
| 3 | g.129529140G>T | CA2667615726 | RHO | c.361+46G>T (n.361+46G>T) | gnomAD v4 |
| 3 | g.129529141A= | CA1401206444 | RHO | c.361+47A= (n.361+47A=) | |
| 3 | g.129529141A>C | CA546417611 | RHO | c.361+47A>C (n.361+47A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129529141A>T | CA2667615733 | RHO | c.361+47A>T (n.361+47A>T) | gnomAD v4 |
| 3 | g.129529142G>A | CA2607133 | RHO | c.361+48G>A (n.361+48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529142G= | CA1401206451 | RHO | c.361+48G= (n.361+48G=) | |
| 3 | g.129529142G>T | CA546417612 | RHO | c.361+48G>T (n.361+48G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129529142_129529143insACA | CA2758363671 | RHO | c.361+48_361+49insACA (n.361+48_361+49insACA) | |
| 3 | g.129529143G>A | CA2667615740 | RHO | c.361+49G>A (n.361+49G>A) | gnomAD v4 |
| 3 | g.129529143G>C | CA2667615742 | RHO | c.361+49G>C (n.361+49G>C) | gnomAD v4 |
| 3 | g.129529143G>T | CA2667615743 | RHO | c.361+49G>T (n.361+49G>T) | gnomAD v4 |
| 3 | g.129529144G>T | CA2667615746 | RHO | c.361+50G>T (n.361+50G>T) | gnomAD v4 |
| 3 | g.129529145G>A | CA2667615749 | RHO | c.361+51G>A (n.361+51G>A) | gnomAD v4 |
| 3 | g.129529145G>T | CA2667615753 | RHO | c.361+51G>T (n.361+51G>T) | gnomAD v4 |
| 3 | g.129529147C>T | CA2667615756 | RHO | c.361+53C>T (n.361+53C>T) | gnomAD v4 |
| 3 | g.129529147_129529151del | CA2758363672 | RHO | c.361+53_361+57del (n.361+53_361+57del) | |
| 3 | g.129529147_129529148insACT | CA2758363674 | RHO | c.361+53_361+54insACT (n.361+53_361+54insACT) | |
| 3 | g.129529148_129529149insACA | CA2758363675 | RHO | c.361+54_361+55insACA (n.361+54_361+55insACA) | |
| 3 | g.129529149G>A | CA2577961728 | RHO | c.361+55G>A (n.361+55G>A) | gnomAD v4 |
| 3 | g.129529149G>T | CA2840239270 | RHO | c.361+55G>T (n.361+55G>T) | |
| 3 | g.129529150G>A | CA82647165 | RHO | c.361+56G>A (n.361+56G>A) | dbSNP |
| 3 | g.129529150G= | CA1401206456 | RHO | c.361+56G= (n.361+56G=) | |
| 3 | g.129529151G>A | CA898750693 | RHO | c.361+57G>A (n.361+57G>A) | dbSNP |
| 3 | g.129529151G= | CA1401206460 | RHO | c.361+57G= (n.361+57G=) | |
| 3 | g.129529152A>G | CA2840239271 | RHO | c.361+58A>G (n.361+58A>G) | |
| 3 | g.129529153G>T | CA2667615762 | RHO | c.361+59G>T (n.361+59G>T) | gnomAD v4 |
| 3 | g.129529154A>G | CA2667615763 | RHO | c.361+60A>G (n.361+60A>G) | gnomAD v4 |
| 3 | g.129529154A>T | CA2667615765 | RHO | c.361+60A>T (n.361+60A>T) | gnomAD v4 |
| 3 | g.129529155G>A | CA1401206466 | RHO | c.361+61G>A (n.361+61G>A) | dbSNP |
| 3 | g.129529155G= | CA1401206464 | RHO | c.361+61G= (n.361+61G=) | |
| 3 | g.129529157C>A | CA2667615766 | RHO | c.361+63C>A (n.361+63C>A) | gnomAD v4 |
| 3 | g.129529157C>G | CA2667615767 | RHO | c.361+63C>G (n.361+63C>G) | gnomAD v4 |
| 3 | g.129529158C>A | CA2667615771 | RHO | c.361+64C>A (n.361+64C>A) | gnomAD v4 |
| 3 | g.129529158C>T | CA2667615770 | RHO | c.361+64C>T (n.361+64C>T) | gnomAD v4 |
| 3 | g.129529159C>A | CA2667615775 | RHO | c.361+65C>A (n.361+65C>A) | gnomAD v4 |
| 3 | g.129529159C= | CA1401206470 | RHO | c.361+65C= (n.361+65C=) | |
| 3 | g.129529159C>G | CA2577961729 | RHO | c.361+65C>G (n.361+65C>G) | |
| 3 | g.129529159C>T | CA82647168 | RHO | c.361+65C>T (n.361+65C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529159_129529160insAGA | CA2758363677 | RHO | c.361+65_361+66insAGA (n.361+65_361+66insAGA) | |
| 3 | g.129529160G>A | CA82647176 | RHO | c.361+66G>A (n.361+66G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529160G= | CA1401206483 | RHO | c.361+66G= (n.361+66G=) | |
| 3 | g.129529161_129529162del | CA2758363678 | RHO | c.361+67_361+68del (n.361+67_361+68del) | |
| 3 | g.129529161G>A | CA2577961730 | RHO | c.361+67G>A (n.361+67G>A) | |
| 3 | g.129529161G>T | CA2667615784 | RHO | c.361+67G>T (n.361+67G>T) | gnomAD v4 |
| 3 | g.129529161_129529163del | CA2758363680 | RHO | c.361+67_361+69del (n.361+67_361+69del) | |
| 3 | g.129529162G>A | CA2758363681 | RHO | c.361+68G>A (n.361+68G>A) | |
| 3 | g.129529163C>A | CA2667615788 | RHO | c.361+69C>A (n.361+69C>A) | gnomAD v4 |
| 3 | g.129529163C>T | CA2577961731 | RHO | c.361+69C>T (n.361+69C>T) | gnomAD v4 |
| 3 | g.129529164T>C | CA2667615794 | RHO | c.361+70T>C (n.361+70T>C) | gnomAD v4 |
| 3 | g.129529166G>A | CA82647180 | RHO | c.361+72G>A (n.361+72G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529166G= | CA1401206487 | RHO | c.361+72G= (n.361+72G=) | |
| 3 | g.129529166G>T | CA2667615795 | RHO | c.361+72G>T (n.361+72G>T) | gnomAD v4 |
| 3 | g.129529167G>A | CA2667615796 | RHO | c.361+73G>A (n.361+73G>A) | gnomAD v4 |
| 3 | g.129529168C>A | CA2577961732 | RHO | c.361+74C>A (n.361+74C>A) | gnomAD v4 |
| 3 | g.129529168C= | CA1401206488 | RHO | c.361+74C= (n.361+74C=) | |
| 3 | g.129529168C>T | CA82647184 | RHO | c.361+74C>T (n.361+74C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529168_129529169insACA | CA2758363682 | RHO | c.361+74_361+75insACA (n.361+74_361+75insACA) | |
| 3 | g.129529169G>A | CA82647185 | RHO | c.361+75G>A (n.361+75G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529169G>C | CA2667615805 | RHO | c.361+75G>C (n.361+75G>C) | gnomAD v4 |
| 3 | g.129529169G= | CA1401206491 | RHO | c.361+75G= (n.361+75G=) | |
| 3 | g.129529169G>T | CA2667615807 | RHO | c.361+75G>T (n.361+75G>T) | gnomAD v4 |
| 3 | g.129529170G>A | CA1401206497 | RHO | c.361+76G>A (n.361+76G>A) | dbSNP gnomAD v4 |
| 3 | g.129529170G>C | CA2667615812 | RHO | c.361+76G>C (n.361+76G>C) | gnomAD v4 |
| 3 | g.129529170G= | CA1401206496 | RHO | c.361+76G= (n.361+76G=) | |
| 3 | g.129529170G>T | CA2667615813 | RHO | c.361+76G>T (n.361+76G>T) | gnomAD v4 |
| 3 | g.129529171T>G | CA2667615814 | RHO | c.361+77T>G (n.361+77T>G) | gnomAD v4 |
| 3 | g.129529172G>A | CA82647186 | RHO | c.361+78G>A (n.361+78G>A) | dbSNP gnomAD v4 |
| 3 | g.129529172G= | CA1401206501 | RHO | c.361+78G= (n.361+78G=) | |
| 3 | g.129529172G>T | CA2667615818 | RHO | c.361+78G>T (n.361+78G>T) | gnomAD v4 |
| 3 | g.129529173G>A | CA2667615821 | RHO | c.361+79G>A (n.361+79G>A) | gnomAD v4 |
| 3 | g.129529173G>C | CA2667615823 | RHO | c.361+79G>C (n.361+79G>C) | gnomAD v4 |
| 3 | g.129529173G>T | CA2667615826 | RHO | c.361+79G>T (n.361+79G>T) | gnomAD v4 |
| 3 | g.129529173_129529174insACA | CA2758363684 | RHO | c.361+79_361+80insACA (n.361+79_361+80insACA) | |
| 3 | g.129529173_129529174insAGT | CA2758363685 | RHO | c.361+79_361+80insAGT (n.361+79_361+80insAGT) | |
| 3 | g.129529174_129529175insA | CA2758363686 | RHO | c.361+80_361+81insA (n.361+80_361+81insA) | |
| 3 | g.129529175G>A | CA2577961733 | RHO | c.361+81G>A (n.361+81G>A) | gnomAD v4 |
| 3 | g.129529175G>T | CA2667615830 | RHO | c.361+81G>T (n.361+81G>T) | gnomAD v4 |
| 3 | g.129529176_129529181del | CA2758363687 | RHO | c.361+82_361+87del (n.361+82_361+87del) | |
| 3 | g.129529176G>A | CA2577961734 | RHO | c.361+82G>A (n.361+82G>A) | gnomAD v4 |
| 3 | g.129529176G>T | CA2758363688 | RHO | c.361+82G>T (n.361+82G>T) | |
| 3 | g.129529177del | CA2758363690 | RHO | c.361+83del (n.361+83del) | |
| 3 | g.129529177C>A | CA2667615834 | RHO | c.361+83C>A (n.361+83C>A) | gnomAD v4 |
| 3 | g.129529177C>T | CA2667615835 | RHO | c.361+83C>T (n.361+83C>T) | gnomAD v4 |
| 3 | g.129529177_129529178insACAT | CA2758363691 | RHO | c.361+83_361+84insACAT (n.361+83_361+84insACAT) | |
| 3 | g.129529178T>C | CA2667615838 | RHO | c.361+84T>C (n.361+84T>C) | gnomAD v4 |
| 3 | g.129529179del | CA2758363693 | RHO | c.361+85del (n.361+85del) | |
| 3 | g.129529179G>A | CA2577961735 | RHO | c.361+85G>A (n.361+85G>A) | gnomAD v4 |
| 3 | g.129529179G>T | CA2667615840 | RHO | c.361+85G>T (n.361+85G>T) | gnomAD v4 |
| 3 | g.129529181G>A | CA1401206506 | RHO | c.361+87G>A (n.361+87G>A) | dbSNP gnomAD v4 |
| 3 | g.129529181G= | CA1401206509 | RHO | c.361+87G= (n.361+87G=) | |
| 3 | g.129529181G>T | CA2667615843 | RHO | c.361+87G>T (n.361+87G>T) | gnomAD v4 |
| 3 | g.129529181_129529185del | CA2758363694 | RHO | c.361+87_361+91del (n.361+87_361+91del) | |
| 3 | g.129529182A= | CA1401206510 | RHO | c.361+88A= (n.361+88A=) | |
| 3 | g.129529182A>G | CA1401206511 | RHO | c.361+88A>G (n.361+88A>G) | dbSNP gnomAD v4 |
| 3 | g.129529183_129529184insAC | CA2758363695 | RHO | c.361+89_361+90insAC (n.361+89_361+90insAC) | |
| 3 | g.129529184G>A | CA2667615845 | RHO | c.361+90G>A (n.361+90G>A) | gnomAD v4 |
| 3 | g.129529184G>C | CA2577961736 | RHO | c.361+90G>C (n.361+90G>C) | gnomAD v4 |
| 3 | g.129529184G>T | CA2667615847 | RHO | c.361+90G>T (n.361+90G>T) | gnomAD v4 |
| 3 | g.129529184_129529191delinsGCCTTCTC | CA1401206513 | RHO | c.361+90_361+97delinsGCCTTCTC (n.361+90_361+97delinsGCCTTCTC) | |
| 3 | g.129529185C>A | CA82647195 | RHO | c.361+91C>A (n.361+91C>A) | dbSNP gnomAD v4 |
| 3 | g.129529185C= | CA1401206516 | RHO | c.361+91C= (n.361+91C=) | |
| 3 | g.129529185C>G | CA1401206519 | RHO | c.361+91C>G (n.361+91C>G) | dbSNP gnomAD v4 |
| 3 | g.129529185C>T | CA1401206520 | RHO | c.361+91C>T (n.361+91C>T) | dbSNP gnomAD v4 |
| 3 | g.129529193_129529199del | CA82647188 | RHO | c.361+99_361+105del (n.361+99_361+105del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129529185_129529186insA | CA2758363701 | RHO | c.361+91_361+92insA (n.361+91_361+92insA) | |
| 3 | g.129529185_129529186insACA | CA2758363698 | RHO | c.361+91_361+92insACA (n.361+91_361+92insACA) | |
| 3 | g.129529186C>A | CA1401206522 | RHO | c.361+92C>A (n.361+92C>A) | dbSNP gnomAD v4 |
| 3 | g.129529186C= | CA1401206521 | RHO | c.361+92C= (n.361+92C=) | |
| 3 | g.129529186C>G | CA2758363700 | RHO | c.361+92C>G (n.361+92C>G) | |
| 3 | g.129529186C>T | CA2667615856 | RHO | c.361+92C>T (n.361+92C>T) | gnomAD v4 |
| 3 | g.129529186_129529187del | CA2758363699 | RHO | c.361+92_361+93del (n.361+92_361+93del) | |
| 3 | g.129529186_129529187insACA | CA2758363702 | RHO | c.361+92_361+93insACA (n.361+92_361+93insACA) | |
| 3 | g.129529187T>A | CA1401206523 | RHO | c.361+93T>A (n.361+93T>A) | dbSNP |
| 3 | g.129529187T>C | CA2667615858 | RHO | c.361+93T>C (n.361+93T>C) | gnomAD v4 |
| 3 | g.129529187T>G | CA2667615859 | RHO | c.361+93T>G (n.361+93T>G) | gnomAD v4 |
| 3 | g.129529187T= | CA1401206524 | RHO | c.361+93T= (n.361+93T=) | |
| 3 | g.129529187_129529188insAGTA | CA2758363704 | RHO | c.361+93_361+94insAGTA (n.361+93_361+94insAGTA) | |
| 3 | g.129529188T>C | CA2667615860 | RHO | c.361+94T>C (n.361+94T>C) | gnomAD v4 |
| 3 | g.129529190_129529191del | CA2758363705 | RHO | c.361+96_361+97del (n.361+96_361+97del) | |
| 3 | g.129529189C>A | CA2667615861 | RHO | c.361+95C>A (n.361+95C>A) | gnomAD v4 |
| 3 | g.129529190_129529192del | CA2758363706 | RHO | c.361+96_361+98del (n.361+96_361+98del) |