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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 |
|---|---|---|---|---|---|
| 6 | g.64230428_64230520del | CA2771469809 | EYS | c.6424+80_6424+172del (n.6424+80_6424+172del) | |
| 6 | g.64230498A= | CA1633626590 | EYS | c.6424+94T= (n.6424+94T=) | |
| 6 | g.64230498A>G | CA1633626591 | EYS | c.6424+94T>C (n.6424+94T>C) | dbSNP gnomAD v4 |
| 6 | g.64230498A>T | CA2679283424 | EYS | c.6424+94T>A (n.6424+94T>A) | gnomAD v4 |
| 6 | g.64230499C>A | CA140296078 | EYS | c.6424+93G>T (n.6424+93G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230499C= | CA1633626592 | EYS | c.6424+93G= (n.6424+93G=) | |
| 6 | g.64230499C>T | CA1633626593 | EYS | c.6424+93G>A (n.6424+93G>A) | dbSNP gnomAD v4 |
| 6 | g.64230500C>A | CA2679283425 | EYS | c.6424+92G>T (n.6424+92G>T) | gnomAD v4 |
| 6 | g.64230500C>T | CA2578660030 | EYS | c.6424+92G>A (n.6424+92G>A) | gnomAD v4 |
| 6 | g.64230501C>A | CA2679283426 | EYS | c.6424+91G>T (n.6424+91G>T) | gnomAD v4 |
| 6 | g.64230501C>T | CA2578660031 | EYS | c.6424+91G>A (n.6424+91G>A) | gnomAD v4 |
| 6 | g.64230502A>C | CA2679283427 | EYS | c.6424+90T>G (n.6424+90T>G) | gnomAD v4 |
| 6 | g.64230502A>G | CA2679283428 | EYS | c.6424+90T>C (n.6424+90T>C) | gnomAD v4 |
| 6 | g.64230503T>C | CA2679283429 | EYS | c.6424+89A>G (n.6424+89A>G) | gnomAD v4 |
| 6 | g.64230504C>G | CA2679283430 | EYS | c.6424+88G>C (n.6424+88G>C) | gnomAD v4 |
| 6 | g.64230505A>G | CA2578660032 | EYS | c.6424+87T>C (n.6424+87T>C) | gnomAD v4 |
| 6 | g.64230506C= | CA1633626594 | EYS | c.6424+86G= (n.6424+86G=) | |
| 6 | g.64230506C>G | CA827005040 | EYS | c.6424+86G>C (n.6424+86G>C) | dbSNP gnomAD v4 |
| 6 | g.64230506C>T | CA1633626595 | EYS | c.6424+86G>A (n.6424+86G>A) | dbSNP gnomAD v4 |
| 6 | g.64230507T>C | CA2679283431 | EYS | c.6424+85A>G (n.6424+85A>G) | gnomAD v4 |
| 6 | g.64230510G>T | CA2679283432 | EYS | c.6424+82C>A (n.6424+82C>A) | gnomAD v4 |
| 6 | g.64230512T>A | CA2679283433 | EYS | c.6424+80A>T (n.6424+80A>T) | gnomAD v4 |
| 6 | g.64230513T>C | CA140296079 | EYS | c.6424+79A>G (n.6424+79A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230513T= | CA1633626596 | EYS | c.6424+79A= (n.6424+79A=) | |
| 6 | g.64230515C>T | CA2679283434 | EYS | c.6424+77G>A (n.6424+77G>A) | gnomAD v4 |
| 6 | g.64230516A>G | CA2578660033 | EYS | c.6424+76T>C (n.6424+76T>C) | |
| 6 | g.64230518T>C | CA2679283435 | EYS | c.6424+74A>G (n.6424+74A>G) | gnomAD v4 |
| 6 | g.64230520dup | CA2578660034 | EYS | c.6424+72dup (n.6424+72dup) | gnomAD v4 |
| 6 | g.64230521A= | CA1633626597 | EYS | c.6424+71T= (n.6424+71T=) | |
| 6 | g.64230521A>C | CA827005050 | EYS | c.6424+71T>G (n.6424+71T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230522T>C | CA140296080 | EYS | c.6424+70A>G (n.6424+70A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230522T= | CA1633626598 | EYS | c.6424+70A= (n.6424+70A=) | |
| 6 | g.64230523T>A | CA2679283436 | EYS | c.6424+69A>T (n.6424+69A>T) | gnomAD v4 |
| 6 | g.64230524T>C | CA2679283437 | EYS | c.6424+68A>G (n.6424+68A>G) | gnomAD v4 |
| 6 | g.64230525C>A | CA2679283438 | EYS | c.6424+67G>T (n.6424+67G>T) | dbSNP gnomAD v4 |
| 6 | g.64230525C>T | CA2679283439 | EYS | c.6424+67G>A (n.6424+67G>A) | gnomAD v4 |
| 6 | g.64230527A>T | CA2578660035 | EYS | c.6424+65T>A (n.6424+65T>A) | |
| 6 | g.64230528C>A | CA2679283440 | EYS | c.6424+64G>T (n.6424+64G>T) | gnomAD v4 |
| 6 | g.64230528C>T | CA2679283441 | EYS | c.6424+64G>A (n.6424+64G>A) | gnomAD v4 |
| 6 | g.64230529_64230531delinsTCC | CA1633626599 | EYS | c.6424+61_6424+63delinsGGA (n.6424+61_6424+63delinsGGA) | |
| 6 | g.64230530_64230531del | CA568119100 | EYS | c.6424+61_6424+62del (n.6424+61_6424+62del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230531C>A | CA2679283442 | EYS | c.6424+61G>T (n.6424+61G>T) | gnomAD v4 |
| 6 | g.64230531C>T | CA2679283443 | EYS | c.6424+61G>A (n.6424+61G>A) | gnomAD v4 |
| 6 | g.64230533G>C | CA2578660036 | EYS | c.6424+59C>G (n.6424+59C>G) | |
| 6 | g.64230533G>T | CA2578660037 | EYS | c.6424+59C>A (n.6424+59C>A) | gnomAD v4 |
| 6 | g.64230535C>A | CA2679283444 | EYS | c.6424+57G>T (n.6424+57G>T) | gnomAD v4 |
| 6 | g.64230535C>G | CA2679283445 | EYS | c.6424+57G>C (n.6424+57G>C) | gnomAD v4 |
| 6 | g.64230536C>A | CA2679283446 | EYS | c.6424+56G>T (n.6424+56G>T) | gnomAD v4 |
| 6 | g.64230536C>T | CA2578660038 | EYS | c.6424+56G>A (n.6424+56G>A) | |
| 6 | g.64230537A= | CA1633626600 | EYS | c.6424+55T= (n.6424+55T=) | |
| 6 | g.64230537A>G | CA140296081 | EYS | c.6424+55T>C (n.6424+55T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230538T>A | CA1089830874 | EYS | c.6424+54A>T (n.6424+54A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230538T>G | CA2679283447 | EYS | c.6424+54A>C (n.6424+54A>C) | gnomAD v4 |
| 6 | g.64230538T= | CA1633626601 | EYS | c.6424+54A= (n.6424+54A=) | |
| 6 | g.64230540C>A | CA2679283448 | EYS | c.6424+52G>T (n.6424+52G>T) | gnomAD v4 |
| 6 | g.64230540C= | CA1633626602 | EYS | c.6424+52G= (n.6424+52G=) | |
| 6 | g.64230540C>T | CA1633626603 | EYS | c.6424+52G>A (n.6424+52G>A) | dbSNP |
| 6 | g.64230541T>A | CA1089830904 | EYS | c.6424+51A>T (n.6424+51A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230541T= | CA1633626604 | EYS | c.6424+51A= (n.6424+51A=) | |
| 6 | g.64230542C>A | CA2679283449 | EYS | c.6424+50G>T (n.6424+50G>T) | gnomAD v4 |
| 6 | g.64230542C>G | CA2771469812 | EYS | c.6424+50G>C (n.6424+50G>C) | |
| 6 | g.64230544G>A | CA1633626606 | EYS | c.6424+48C>T (n.6424+48C>T) | dbSNP |
| 6 | g.64230544G= | CA1633626605 | EYS | c.6424+48C= (n.6424+48C=) | |
| 6 | g.64230544G>T | CA2578660039 | EYS | c.6424+48C>A (n.6424+48C>A) | gnomAD v4 |
| 6 | g.64230545del | CA2679283450 | EYS | c.6424+48del (n.6424+48del) | gnomAD v4 |
| 6 | g.64230545G>C | CA3876920 | EYS | c.6424+47C>G (n.6424+47C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230545G= | CA1633626607 | EYS | c.6424+47C= (n.6424+47C=) | |
| 6 | g.64230545G>T | CA2679283451 | EYS | c.6424+47C>A (n.6424+47C>A) | gnomAD v4 |
| 6 | g.64230548A= | CA1633626608 | EYS | c.6424+44T= (n.6424+44T=) | |
| 6 | g.64230548A>G | CA827005058 | EYS | c.6424+44T>C (n.6424+44T>C) | dbSNP gnomAD v4 |
| 6 | g.64230549G>T | CA2679283452 | EYS | c.6424+43C>A (n.6424+43C>A) | gnomAD v4 |
| 6 | g.64230550G>A | CA1089830916 | EYS | c.6424+42C>T (n.6424+42C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230550G>C | CA140296082 | EYS | c.6424+42C>G (n.6424+42C>G) | dbSNP |
| 6 | g.64230550G= | CA1633626609 | EYS | c.6424+42C= (n.6424+42C=) | |
| 6 | g.64230550G>T | CA2838533545 | EYS | c.6424+42C>A (n.6424+42C>A) | |
| 6 | g.64230551T>C | CA2679283453 | EYS | c.6424+41A>G (n.6424+41A>G) | gnomAD v4 |
| 6 | g.64230555dup | CA568119101 | EYS | c.6424+41dup (n.6424+41dup) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.64230553T>C | CA827005066 | EYS | c.6424+39A>G (n.6424+39A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230553T>G | CA568119102 | EYS | c.6424+39A>C (n.6424+39A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230553T= | CA1633626610 | EYS | c.6424+39A= (n.6424+39A=) | |
| 6 | g.64230554T>A | CA568119103 | EYS | c.6424+38A>T (n.6424+38A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230554T= | CA1633626611 | EYS | c.6424+38A= (n.6424+38A=) | |
| 6 | g.64230555T>C | CA3876921 | EYS | c.6424+37A>G (n.6424+37A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230555T= | CA1633626612 | EYS | c.6424+37A= (n.6424+37A=) | |
| 6 | g.64230556A>G | CA2679283454 | EYS | c.6424+36T>C (n.6424+36T>C) | gnomAD v4 |
| 6 | g.64230563A= | CA1633626613 | EYS | c.6424+29T= (n.6424+29T=) | |
| 6 | g.64230563A>C | CA827005097 | EYS | c.6424+29T>G (n.6424+29T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230566A= | CA1633626614 | EYS | c.6424+26T= (n.6424+26T=) | |
| 6 | g.64230566A>G | CA140296083 | EYS | c.6424+26T>C (n.6424+26T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230567C= | CA1633626615 | EYS | c.6424+25G= (n.6424+25G=) | |
| 6 | g.64230567C>T | CA568119104 | EYS | c.6424+25G>A (n.6424+25G>A) | dbSNP gnomAD v2 |
| 6 | g.64230568A= | CA1633626616 | EYS | c.6424+24T= (n.6424+24T=) | |
| 6 | g.64230568A>G | CA568119105 | EYS | c.6424+24T>C (n.6424+24T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230571del | CA2679283455 | EYS | c.6424+24del (n.6424+24del) | gnomAD v4 |
| 6 | g.64230569A= | CA1633626617 | EYS | c.6424+23T= (n.6424+23T=) | |
| 6 | g.64230569A>G | CA568119106 | EYS | c.6424+23T>C (n.6424+23T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.64230571A>G | CA2679283456 | EYS | c.6424+21T>C (n.6424+21T>C) | gnomAD v4 |
| 6 | g.64230572G>A | CA2679283457 | EYS | c.6424+20C>T (n.6424+20C>T) | gnomAD v4 |
| 6 | g.64230572G>C | CA2679283458 | EYS | c.6424+20C>G (n.6424+20C>G) | gnomAD v4 |
| 6 | g.64230573G>A | CA2679283459 | EYS | c.6424+19C>T (n.6424+19C>T) | gnomAD v4 |
| 6 | g.64230574G>A | CA827005130 | EYS | c.6424+18C>T (n.6424+18C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230574G= | CA1633626618 | EYS | c.6424+18C= (n.6424+18C=) | |
| 6 | g.64230574G>T | CA2679283460 | EYS | c.6424+18C>A (n.6424+18C>A) | gnomAD v4 |
| 6 | g.64230578T>C | CA1089830931 | EYS | c.6424+14A>G (n.6424+14A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230578T>G | CA2679283461 | EYS | c.6424+14A>C (n.6424+14A>C) | gnomAD v4 |
| 6 | g.64230578T= | CA1633626619 | EYS | c.6424+14A= (n.6424+14A=) | |
| 6 | g.64230582G>A | CA140296084 | EYS | c.6424+10C>T (n.6424+10C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.64230582G= | CA1633626620 | EYS | c.6424+10C= (n.6424+10C=) | |
| 6 | g.64230582G>T | CA140296085 | EYS | c.6424+10C>A (n.6424+10C>A) | dbSNP gnomAD v4 |
| 6 | g.64230583A>C | CA2679283462 | EYS | c.6424+9T>G (n.6424+9T>G) | gnomAD v4 |
| 6 | g.64230584T>C | CA140296086 | EYS | c.6424+8A>G (n.6424+8A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230584T>G | CA2679283463 | EYS | c.6424+8A>C (n.6424+8A>C) | gnomAD v4 |
| 6 | g.64230584T= | CA1633626621 | EYS | c.6424+8A= (n.6424+8A=) | |
| 6 | g.64230585T>A | CA2578660040 | EYS | c.6424+7A>T (n.6424+7A>T) | |
| 6 | g.64230586G>T | CA2679283464 | EYS | c.6424+6C>A (n.6424+6C>A) | gnomAD v4 |
| 6 | g.64230587A= | CA1633626622 | EYS | c.6424+5T= (n.6424+5T=) | |
| 6 | g.64230587A>G | CA827005140 | EYS | c.6424+5T>C (n.6424+5T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230588T>C | CA140296087 | EYS | c.6424+4A>G (n.6424+4A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230588T>G | CA2771469813 | EYS | c.6424+4A>C (n.6424+4A>C) | |
| 6 | g.64230588T= | CA1633626623 | EYS | c.6424+4A= (n.6424+4A=) | |
| 6 | g.64230590A= | CA1633626624 | EYS | c.6424+2T= (n.6424+2T=) | |
| 6 | g.64230590A>C | CA364391126 | EYS | c.6424+2T>G (n.6424+2T>G) | |
| 6 | g.64230590A>G | CA364391127 | EYS | c.6424+2T>C (n.6424+2T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.64230590A>T | CA364391128 | EYS | c.6424+2T>A (n.6424+2T>A) | |
| 6 | g.64230591C>A | CA140296088 | EYS | c.6424+1G>T (n.6424+1G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230591C= | CA1633626625 | EYS | c.6424+1G= (n.6424+1G=) | |
| 6 | g.64230591C>G | CA364391129 | EYS | c.6424+1G>C (n.6424+1G>C) | |
| 6 | g.64230591C>T | CA364391130 | EYS | c.6424+1G>A (n.6424+1G>A) | ClinVar |
| 6 | g.64230592C>A | CA364391131 | EYS | c.6424G>T (p.Asp2142Tyr) | gnomAD v4 |
| 6 | g.64230592C>G | CA364391133 | EYS | c.6424G>C (p.Asp2142His) | |
| 6 | g.64230592C>T | CA364391132 | EYS | c.6424G>A (p.Asp2142Asn) | |
| 6 | g.64230593T>A | CA364391134 | EYS | c.6423A>T (p.Lys2141Asn) | |
| 6 | g.64230593T>C | CA450758746 | EYS | c.6423A>G (p.Lys2141=) | gnomAD v4 |
| 6 | g.64230593T>G | CA364391135 | EYS | c.6423A>C (p.Lys2141Asn) | |
| 6 | g.64230597del | CA2679283465 | EYS | c.6423del (p.Asp2142MetfsTer15) | gnomAD v4 |
| 6 | g.64230594T>A | CA364391136 | EYS | c.6422A>T (p.Lys2141Ile) | |
| 6 | g.64230594T>C | CA364391137 | EYS | c.6422A>G (p.Lys2141Arg) | |
| 6 | g.64230594T>G | CA364391138 | EYS | c.6422A>C (p.Lys2141Thr) | |
| 6 | g.64230595T>A | CA364391139 | EYS | c.6421A>T (p.Lys2141Ter) | |
| 6 | g.64230595T>C | CA364391140 | EYS | c.6421A>G (p.Lys2141Glu) | |
| 6 | g.64230595T>G | CA364391141 | EYS | c.6421A>C (p.Lys2141Gln) | |
| 6 | g.64230596T>A | CA364391142 | EYS | c.6420A>T (p.Glu2140Asp) | |
| 6 | g.64230596T>C | CA450758747 | EYS | c.6420A>G (p.Glu2140=) | |
| 6 | g.64230596T>G | CA364391143 | EYS | c.6420A>C (p.Glu2140Asp) | |
| 6 | g.64230597T>A | CA364391146 | EYS | c.6419A>T (p.Glu2140Val) | |
| 6 | g.64230597T>C | CA364391145 | EYS | c.6419A>G (p.Glu2140Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.64230597T>G | CA364391144 | EYS | c.6419A>C (p.Glu2140Ala) | |
| 6 | g.64230597T= | CA1633626626 | EYS | c.6419A= (p.Glu2140=) | |
| 6 | g.64230597_64230598del | CA2578660041 | EYS | c.6418_6419del (p.Glu2140LysfsTer30) | |
| 6 | g.64230598C>A | CA364391147 | EYS | c.6418G>T (p.Glu2140Ter) | |
| 6 | g.64230598C>G | CA364391149 | EYS | c.6418G>C (p.Glu2140Gln) | |
| 6 | g.64230598C>T | CA364391148 | EYS | c.6418G>A (p.Glu2140Lys) | COSMIC |