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.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 |
6 | g.64230599A>C | CA364391150 | EYS | c.6417T>G (p.Cys2139Trp)
| |
6 | g.64230599A>G | CA450758748 | EYS | c.6417T>C (p.Cys2139=)
| |
6 | g.64230599A>T | CA364391151 | EYS | c.6417T>A (p.Cys2139Ter)
| |
6 | g.64230600C>A | CA364391152 | EYS | c.6416G>T (p.Cys2139Phe)
| |
6 | g.64230600C= | CA1633626627 | EYS | c.6416G= (p.Cys2139=)
| |
6 | g.64230600C>G | CA364391153 | EYS | c.6416G>C (p.Cys2139Ser)
| |
6 | g.64230600C>T | CA199162 | EYS | c.6416G>A (p.Cys2139Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230601A= | CA1633626628 | EYS | c.6415T= (p.Cys2139=)
| |
6 | g.64230601A>C | CA364391154 | EYS | c.6415T>G (p.Cys2139Gly)
| |
6 | g.64230601A>G | CA364391155 | EYS | c.6415T>C (p.Cys2139Arg)
| ClinVar dbSNP |
6 | g.64230601A>T | CA364391156 | EYS | c.6415T>A (p.Cys2139Ser)
| |
6 | g.64230601_64230612del | CA2679283466 | EYS | c.6404_6415del (p.Thr2135_Cys2139delinsSer)
| ClinVar gnomAD v4 |
6 | g.64230602G>A | CA450758749 | EYS | c.6414C>T (p.Phe2138=)
| ClinVar gnomAD v4 |
6 | g.64230602G>C | CA364391157 | EYS | c.6414C>G (p.Phe2138Leu)
| |
6 | g.64230602G>T | CA364391158 | EYS | c.6414C>A (p.Phe2138Leu)
| |
6 | g.64230603A>C | CA364391161 | EYS | c.6413T>G (p.Phe2138Cys)
| |
6 | g.64230603A>G | CA364391160 | EYS | c.6413T>C (p.Phe2138Ser)
| gnomAD v4 |
6 | g.64230603A>T | CA364391159 | EYS | c.6413T>A (p.Phe2138Tyr)
| |
6 | g.64230604A= | CA1633626629 | EYS | c.6412T= (p.Phe2138=)
| |
6 | g.64230604A>C | CA364391162 | EYS | c.6412T>G (p.Phe2138Val)
| |
6 | g.64230604A>G | CA364391163 | EYS | c.6412T>C (p.Phe2138Leu)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230604A>T | CA364391164 | EYS | c.6412T>A (p.Phe2138Ile)
| |
6 | g.64230605G>A | CA450758752 | EYS | c.6411C>T (p.Arg2137=)
| |
6 | g.64230605G>C | CA450758751 | EYS | c.6411C>G (p.Arg2137=)
| |
6 | g.64230605G>T | CA450758750 | EYS | c.6411C>A (p.Arg2137=)
| |
6 | g.64230606C>A | CA364391165 | EYS | c.6410G>T (p.Arg2137Leu)
| gnomAD v4 |
6 | g.64230606C= | CA1633626630 | EYS | c.6410G= (p.Arg2137=)
| |
6 | g.64230606C>G | CA364391166 | EYS | c.6410G>C (p.Arg2137Pro)
| |
6 | g.64230606C>T | CA140296089 | EYS | c.6410G>A (p.Arg2137His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230607G>A | CA3876922 | EYS | c.6409C>T (p.Arg2137Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230607G>C | CA364391167 | EYS | c.6409C>G (p.Arg2137Gly)
| |
6 | g.64230607G= | CA1633626631 | EYS | c.6409C= (p.Arg2137=)
| |
6 | g.64230607G>T | CA364391168 | EYS | c.6409C>A (p.Arg2137Ser)
| |
6 | g.64230608G>A | CA450758753 | EYS | c.6408C>T (p.Gly2136=)
| ClinVar |
6 | g.64230608G>C | CA450758754 | EYS | c.6408C>G (p.Gly2136=)
| gnomAD v4 |
6 | g.64230608G>T | CA450758755 | EYS | c.6408C>A (p.Gly2136=)
| |
6 | g.64230609C>A | CA364391169 | EYS | c.6407G>T (p.Gly2136Val)
| |
6 | g.64230609C= | CA1633626632 | EYS | c.6407G= (p.Gly2136=)
| |
6 | g.64230609C>G | CA364391170 | EYS | c.6407G>C (p.Gly2136Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64230609C>T | CA364391171 | EYS | c.6407G>A (p.Gly2136Asp)
| gnomAD v4 |
6 | g.64230610C>A | CA364391173 | EYS | c.6406G>T (p.Gly2136Cys)
| |
6 | g.64230610C>G | CA364391174 | EYS | c.6406G>C (p.Gly2136Arg)
| |
6 | g.64230610C>T | CA364391172 | EYS | c.6406G>A (p.Gly2136Ser)
| |
6 | g.64230611A= | CA1633626633 | EYS | c.6405T= (p.Thr2135=)
| |
6 | g.64230611A>C | CA450758757 | EYS | c.6405T>G (p.Thr2135=)
| |
6 | g.64230611A>G | CA450758758 | EYS | c.6405T>C (p.Thr2135=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230611A>T | CA450758759 | EYS | c.6405T>A (p.Thr2135=)
| |
6 | g.64230612G>A | CA364391175 | EYS | c.6404C>T (p.Thr2135Ile)
| |
6 | g.64230612G>C | CA364391176 | EYS | c.6404C>G (p.Thr2135Ser)
| |
6 | g.64230612G>T | CA364391177 | EYS | c.6404C>A (p.Thr2135Asn)
| gnomAD v4 |
6 | g.64230613T>A | CA364391178 | EYS | c.6403A>T (p.Thr2135Ser)
| |
6 | g.64230613T>C | CA364391179 | EYS | c.6403A>G (p.Thr2135Ala)
| |
6 | g.64230613T>G | CA364391180 | EYS | c.6403A>C (p.Thr2135Pro)
| |
6 | g.64230614G>A | CA450758760 | EYS | c.6402C>T (p.Phe2134=)
| |
6 | g.64230614G>C | CA364391181 | EYS | c.6402C>G (p.Phe2134Leu)
| |
6 | g.64230614G>T | CA364391182 | EYS | c.6402C>A (p.Phe2134Leu)
| |
6 | g.64230615A>C | CA364391183 | EYS | c.6401T>G (p.Phe2134Cys)
| |
6 | g.64230615A>G | CA364391184 | EYS | c.6401T>C (p.Phe2134Ser)
| |
6 | g.64230615A>T | CA364391185 | EYS | c.6401T>A (p.Phe2134Tyr)
| |
6 | g.64230616A>C | CA364391186 | EYS | c.6400T>G (p.Phe2134Val)
| |
6 | g.64230616A>G | CA364391187 | EYS | c.6400T>C (p.Phe2134Leu)
| |
6 | g.64230616A>T | CA364391188 | EYS | c.6400T>A (p.Phe2134Ile)
| |
6 | g.64230617A>C | CA364391189 | EYS | c.6399T>G (p.His2133Gln)
| |
6 | g.64230617A>G | CA450758761 | EYS | c.6399T>C (p.His2133=)
| |
6 | g.64230617A>T | CA364391190 | EYS | c.6399T>A (p.His2133Gln)
| |
6 | g.64230618T>A | CA364391191 | EYS | c.6398A>T (p.His2133Leu)
| |
6 | g.64230618T>C | CA364391192 | EYS | c.6398A>G (p.His2133Arg)
| gnomAD v4 |
6 | g.64230618T>G | CA364391193 | EYS | c.6398A>C (p.His2133Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230618T= | CA1633626634 | EYS | c.6398A= (p.His2133=)
| |
6 | g.64230619G>A | CA364391194 | EYS | c.6397C>T (p.His2133Tyr)
| |
6 | g.64230619G>C | CA364391195 | EYS | c.6397C>G (p.His2133Asp)
| |
6 | g.64230619G>T | CA364391196 | EYS | c.6397C>A (p.His2133Asn)
| |
6 | g.64230620T>A | CA450758762 | EYS | c.6396A>T (p.Leu2132=)
| |
6 | g.64230620T>C | CA450758763 | EYS | c.6396A>G (p.Leu2132=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230620T>G | CA450758764 | EYS | c.6396A>C (p.Leu2132=)
| |
6 | g.64230620T= | CA1633626635 | EYS | c.6396A= (p.Leu2132=)
| |
6 | g.64230621A= | CA1633626636 | EYS | c.6395T= (p.Leu2132=)
| |
6 | g.64230621A>C | CA140296090 | EYS | c.6395T>G (p.Leu2132Arg)
| dbSNP |
6 | g.64230621A>G | CA364391197 | EYS | c.6395T>C (p.Leu2132Pro)
| gnomAD v4 |
6 | g.64230621A>T | CA364391198 | EYS | c.6395T>A (p.Leu2132Gln)
| |
6 | g.64230622G>A | CA3876923 | EYS | c.6394C>T (p.Leu2132=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230622G>C | CA364391199 | EYS | c.6394C>G (p.Leu2132Val)
| |
6 | g.64230622G= | CA1633626637 | EYS | c.6394C= (p.Leu2132=)
| |
6 | g.64230622G>T | CA364391200 | EYS | c.6394C>A (p.Leu2132Ile)
| |
6 | g.64230623T>A | CA450758765 | EYS | c.6393A>T (p.Pro2131=)
| |
6 | g.64230623T>C | CA450758766 | EYS | c.6393A>G (p.Pro2131=)
| |
6 | g.64230623T>G | CA450758767 | EYS | c.6393A>C (p.Pro2131=)
| |
6 | g.64230627_64230639del | CA2499218441 | EYS | c.6381_6393del (p.Gln2127HisfsTer26)
| ClinVar dbSNP |
6 | g.64230624G>A | CA364391203 | EYS | c.6392C>T (p.Pro2131Leu)
| |
6 | g.64230624G>C | CA364391202 | EYS | c.6392C>G (p.Pro2131Arg)
| |
6 | g.64230624G>T | CA364391201 | EYS | c.6392C>A (p.Pro2131Gln)
| |
6 | g.64230625G>A | CA364391204 | EYS | c.6391C>T (p.Pro2131Ser)
| |
6 | g.64230625G>C | CA364391206 | EYS | c.6391C>G (p.Pro2131Ala)
| |
6 | g.64230625G>T | CA364391205 | EYS | c.6391C>A (p.Pro2131Thr)
| |
6 | g.64230626A>C | CA364391207 | EYS | c.6390T>G (p.Cys2130Trp)
| |
6 | g.64230626A>G | CA450758769 | EYS | c.6390T>C (p.Cys2130=)
| ClinVar gnomAD v4 |
6 | g.64230626A>T | CA364391208 | EYS | c.6390T>A (p.Cys2130Ter)
| |
6 | g.64230627C>A | CA364391209 | EYS | c.6389G>T (p.Cys2130Phe)
| |
6 | g.64230627C= | CA1633626638 | EYS | c.6389G= (p.Cys2130=)
| |
6 | g.64230627C>G | CA140296091 | EYS | c.6389G>C (p.Cys2130Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230627C>T | CA364391210 | EYS | c.6389G>A (p.Cys2130Tyr)
| |
6 | g.64230628A>C | CA364391211 | EYS | c.6388T>G (p.Cys2130Gly)
| |
6 | g.64230628A>G | CA364391212 | EYS | c.6388T>C (p.Cys2130Arg)
| |
6 | g.64230628A>T | CA364391213 | EYS | c.6388T>A (p.Cys2130Ser)
| |
6 | g.64230629G>A | CA450758770 | EYS | c.6387C>T (p.Asp2129=)
| |
6 | g.64230629G>C | CA364391214 | EYS | c.6387C>G (p.Asp2129Glu)
| |
6 | g.64230629G>T | CA364391215 | EYS | c.6387C>A (p.Asp2129Glu)
| COSMIC |
6 | g.64230630T>A | CA364391216 | EYS | c.6386A>T (p.Asp2129Val)
| |
6 | g.64230630T>C | CA364391217 | EYS | c.6386A>G (p.Asp2129Gly)
| gnomAD v4 |
6 | g.64230630T>G | CA364391218 | EYS | c.6386A>C (p.Asp2129Ala)
| |
6 | g.64230631C>A | CA364391219 | EYS | c.6385G>T (p.Asp2129Tyr)
| |
6 | g.64230631C>G | CA364391220 | EYS | c.6385G>C (p.Asp2129His)
| gnomAD v4 |
6 | g.64230631C>T | CA364391221 | EYS | c.6385G>A (p.Asp2129Asn)
| |
6 | g.64230632A>C | CA364391222 | EYS | c.6384T>G (p.Cys2128Trp)
| |
6 | g.64230632A>G | CA450758771 | EYS | c.6384T>C (p.Cys2128=)
| |
6 | g.64230632A>T | CA364391223 | EYS | c.6384T>A (p.Cys2128Ter)
| |
6 | g.64230633C>A | CA364391225 | EYS | c.6383G>T (p.Cys2128Phe)
| |
6 | g.64230633C= | CA1633626639 | EYS | c.6383G= (p.Cys2128=)
| |
6 | g.64230633C>G | CA364391224 | EYS | c.6383G>C (p.Cys2128Ser)
| |
6 | g.64230633C>T | CA140296092 | EYS | c.6383G>A (p.Cys2128Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |