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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 |
|---|---|---|---|---|---|
| 12 | g.91055324C>A | CA950424611 | KERA | c.886+72G>T (n.886+72G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91055324C= | CA2054259560 | KERA | c.886+72G= (n.886+72G=) | |
| 12 | g.91055324C>T | CA2726768550 | KERA | c.886+72G>A (n.886+72G>A) | dbSNP |
| 12 | g.91055325T>C | CA2054259562 | KERA | c.886+71A>G (n.886+71A>G) | dbSNP |
| 12 | g.91055325T= | CA2054259561 | KERA | c.886+71A= (n.886+71A=) | |
| 12 | g.91055327A>T | CA2575245768 | KERA | c.886+69T>A (n.886+69T>A) | |
| 12 | g.91055328A>T | CA2620149209 | KERA | c.886+68T>A (n.886+68T>A) | gnomAD v4 |
| 12 | g.91055329T>A | CA2620149210 | KERA | c.886+67A>T (n.886+67A>T) | gnomAD v4 |
| 12 | g.91055329T>C | CA693369597 | KERA | c.886+67A>G (n.886+67A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91055329T>G | CA2620149211 | KERA | c.886+67A>C (n.886+67A>C) | gnomAD v4 |
| 12 | g.91055329T= | CA2054259563 | KERA | c.886+67A= (n.886+67A=) | |
| 12 | g.91055330G>A | CA2054259565 | KERA | c.886+66C>T (n.886+66C>T) | dbSNP gnomAD v4 |
| 12 | g.91055330G= | CA2054259564 | KERA | c.886+66C= (n.886+66C=) | |
| 12 | g.91055330G>T | CA2620149212 | KERA | c.886+66C>A (n.886+66C>A) | gnomAD v4 |
| 12 | g.91055334dup | CA2840289804 | KERA | c.886+65dup (n.886+65dup) | |
| 12 | g.91055335T>C | CA2620149213 | KERA | c.886+61A>G (n.886+61A>G) | gnomAD v4 |
| 12 | g.91055338del | CA2840289805 | KERA | c.886+60del (n.886+60del) | |
| 12 | g.91055337A= | CA2054259566 | KERA | c.886+59T= (n.886+59T=) | |
| 12 | g.91055337A>G | CA241201072 | KERA | c.886+59T>C (n.886+59T>C) | dbSNP gnomAD v4 |
| 12 | g.91055339G>A | CA2620149214 | KERA | c.886+57C>T (n.886+57C>T) | gnomAD v4 |
| 12 | g.91055339G>T | CA2620149215 | KERA | c.886+57C>A (n.886+57C>A) | gnomAD v4 |
| 12 | g.91055340A= | CA2054259568 | KERA | c.886+56T= (n.886+56T=) | |
| 12 | g.91055340A>G | CA2054259567 | KERA | c.886+56T>C (n.886+56T>C) | dbSNP |
| 12 | g.91055341T>G | CA2620149216 | KERA | c.886+55A>C (n.886+55A>C) | gnomAD v4 |
| 12 | g.91055342A>G | CA2620149217 | KERA | c.886+54T>C (n.886+54T>C) | dbSNP gnomAD v4 |
| 12 | g.91055343C>A | CA2620149218 | KERA | c.886+53G>T (n.886+53G>T) | gnomAD v4 |
| 12 | g.91055343C= | CA2054259569 | KERA | c.886+53G= (n.886+53G=) | |
| 12 | g.91055343C>T | CA241201075 | KERA | c.886+53G>A (n.886+53G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055344A= | CA2054259570 | KERA | c.886+52T= (n.886+52T=) | |
| 12 | g.91055344A>T | CA693369601 | KERA | c.886+52T>A (n.886+52T>A) | dbSNP gnomAD v4 |
| 12 | g.91055345T>C | CA2620149219 | KERA | c.886+51A>G (n.886+51A>G) | gnomAD v4 |
| 12 | g.91055352_91055353insAAATAAAGATACTTTTAATGA | CA693369605 | KERA | c.886+51_886+52insAGTATCTTTATTTTCATTAAA (n.886+51_886+52insAGTATCTTTATTTTCATTAAA) | dbSNP gnomAD v4 |
| 12 | g.91055346T>A | CA2575245769 | KERA | c.886+50A>T (n.886+50A>T) | |
| 12 | g.91055346T>C | CA2620149220 | KERA | c.886+50A>G (n.886+50A>G) | gnomAD v4 |
| 12 | g.91055348A>G | CA2726852713 | KERA | c.886+48T>C (n.886+48T>C) | dbSNP |
| 12 | g.91055349A= | CA2054259571 | KERA | c.886+47T= (n.886+47T=) | |
| 12 | g.91055349A>G | CA950424639 | KERA | c.886+47T>C (n.886+47T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91055351G>A | CA2796947200 | KERA | c.886+45C>T (n.886+45C>T) | |
| 12 | g.91055351G>T | CA2575245770 | KERA | c.886+45C>A (n.886+45C>A) | gnomAD v4 |
| 12 | g.91055352A>G | CA2620149221 | KERA | c.886+44T>C (n.886+44T>C) | gnomAD v4 |
| 12 | g.91055353C>A | CA6716476 | KERA | c.886+43G>T (n.886+43G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055353C= | CA2054259572 | KERA | c.886+43G= (n.886+43G=) | |
| 12 | g.91055353C>T | CA607142917 | KERA | c.886+43G>A (n.886+43G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055354C>A | CA2620149222 | KERA | c.886+42G>T (n.886+42G>T) | gnomAD v4 |
| 12 | g.91055354C= | CA2054259573 | KERA | c.886+42G= (n.886+42G=) | |
| 12 | g.91055354C>T | CA6716477 | KERA | c.886+42G>A (n.886+42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.91055355A= | CA2054259574 | KERA | c.886+41T= (n.886+41T=) | |
| 12 | g.91055355A>T | CA6716478 | KERA | c.886+41T>A (n.886+41T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.91055356T>C | CA607142918 | KERA | c.886+40A>G (n.886+40A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055356T= | CA2054259575 | KERA | c.886+40A= (n.886+40A=) | |
| 12 | g.91055357G>A | CA950424643 | KERA | c.886+39C>T (n.886+39C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91055357G= | CA2054259576 | KERA | c.886+39C= (n.886+39C=) | |
| 12 | g.91055357G>T | CA6716479 | KERA | c.886+39C>A (n.886+39C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.91055358A>G | CA2620149223 | KERA | c.886+38T>C (n.886+38T>C) | gnomAD v4 |
| 12 | g.91055359G= | CA2054259577 | KERA | c.886+37C= (n.886+37C=) | |
| 12 | g.91055359G>T | CA6716480 | KERA | c.886+37C>A (n.886+37C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055360C>A | CA6716481 | KERA | c.886+36G>T (n.886+36G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.91055360C= | CA2054259578 | KERA | c.886+36G= (n.886+36G=) | |
| 12 | g.91055360C>T | CA2620149224 | KERA | c.886+36G>A (n.886+36G>A) | gnomAD v4 |
| 12 | g.91055362del | CA2562668583 | KERA | c.886+36del (n.886+36del) | |
| 12 | g.91055361C>A | CA607142919 | KERA | c.886+35G>T (n.886+35G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055361C= | CA2054259579 | KERA | c.886+35G= (n.886+35G=) | |
| 12 | g.91055361C>T | CA607142920 | KERA | c.886+35G>A (n.886+35G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055362C>G | CA2620149225 | KERA | c.886+34G>C (n.886+34G>C) | gnomAD v4 |
| 12 | g.91055362C>T | CA2575245771 | KERA | c.886+34G>A (n.886+34G>A) | gnomAD v4 |
| 12 | g.91055363T>C | CA693369639 | KERA | c.886+33A>G (n.886+33A>G) | dbSNP |
| 12 | g.91055363T= | CA2054259580 | KERA | c.886+33A= (n.886+33A=) | |
| 12 | g.91055365del | CA2575245772 | KERA | c.886+33del (n.886+33del) | |
| 12 | g.91055364T>C | CA607142921 | KERA | c.886+32A>G (n.886+32A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055364T= | CA2054259581 | KERA | c.886+32A= (n.886+32A=) | |
| 12 | g.91055365T>C | CA2054259583 | KERA | c.886+31A>G (n.886+31A>G) | dbSNP |
| 12 | g.91055365T= | CA2054259582 | KERA | c.886+31A= (n.886+31A=) | |
| 12 | g.91055366A= | CA2054259584 | KERA | c.886+30T= (n.886+30T=) | |
| 12 | g.91055366A>T | CA607142922 | KERA | c.886+30T>A (n.886+30T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055367G>A | CA607142923 | KERA | c.886+29C>T (n.886+29C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055367G= | CA2054259585 | KERA | c.886+29C= (n.886+29C=) | |
| 12 | g.91055373G= | CA2054259586 | KERA | c.886+23C= (n.886+23C=) | |
| 12 | g.91055373G>T | CA607142924 | KERA | c.886+23C>A (n.886+23C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055373dup | CA2536923139 | KERA | c.886+23dup (n.886+23dup) | |
| 12 | g.91055374A= | CA2054259587 | KERA | c.886+22T= (n.886+22T=) | |
| 12 | g.91055374A>G | CA693369649 | KERA | c.886+22T>C (n.886+22T>C) | dbSNP |
| 12 | g.91055375C>A | CA2620149226 | KERA | c.886+21G>T (n.886+21G>T) | gnomAD v4 |
| 12 | g.91055375C>T | CA2620149227 | KERA | c.886+21G>A (n.886+21G>A) | gnomAD v4 |
| 12 | g.91055376A= | CA2054259588 | KERA | c.886+20T= (n.886+20T=) | |
| 12 | g.91055376A>C | CA2620149228 | KERA | c.886+20T>G (n.886+20T>G) | gnomAD v4 |
| 12 | g.91055376A>G | CA6716482 | KERA | c.886+20T>C (n.886+20T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055376A>T | CA6716483 | KERA | c.886+20T>A (n.886+20T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.91055377T>G | CA2620149229 | KERA | c.886+19A>C (n.886+19A>C) | gnomAD v4 |
| 12 | g.91055378A= | CA2054259589 | KERA | c.886+18T= (n.886+18T=) | |
| 12 | g.91055378A>G | CA2054259590 | KERA | c.886+18T>C (n.886+18T>C) | dbSNP |
| 12 | g.91055379C= | CA2054259591 | KERA | c.886+17G= (n.886+17G=) | |
| 12 | g.91055379C>G | CA950424655 | KERA | c.886+17G>C (n.886+17G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.91055379C>T | CA950424656 | KERA | c.886+17G>A (n.886+17G>A) | dbSNP gnomAD v4 |
| 12 | g.91055380T>C | CA6716484 | KERA | c.886+16A>G (n.886+16A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.91055380T= | CA2054259592 | KERA | c.886+16A= (n.886+16A=) | |
| 12 | g.91055381C= | CA2054259593 | KERA | c.886+15G= (n.886+15G=) | |
| 12 | g.91055381C>T | CA2054259594 | KERA | c.886+15G>A (n.886+15G>A) | dbSNP |
| 12 | g.91055383G>A | CA607142925 | KERA | c.886+13C>T (n.886+13C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055383G>C | CA2620149230 | KERA | c.886+13C>G (n.886+13C>G) | gnomAD v4 |
| 12 | g.91055383G= | CA2054259595 | KERA | c.886+13C= (n.886+13C=) | |
| 12 | g.91055383G>T | CA2620149231 | KERA | c.886+13C>A (n.886+13C>A) | gnomAD v4 |
| 12 | g.91055384C>A | CA2565554743 | KERA | c.886+12G>T (n.886+12G>T) | gnomAD v4 |
| 12 | g.91055385A= | CA2054259596 | KERA | c.886+11T= (n.886+11T=) | |
| 12 | g.91055385A>G | CA6716485 | KERA | c.886+11T>C (n.886+11T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055386G>A | CA607142926 | KERA | c.886+10C>T (n.886+10C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055386G= | CA2054259597 | KERA | c.886+10C= (n.886+10C=) | |
| 12 | g.91055386G>T | CA645586572 | KERA | c.886+10C>A (n.886+10C>A) | gnomAD v4 COSMIC |
| 12 | g.91055387G>A | CA241201142 | KERA | c.886+9C>T (n.886+9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055387G= | CA2054259598 | KERA | c.886+9C= (n.886+9C=) | |
| 12 | g.91055387G>T | CA2726720181 | KERA | c.886+9C>A (n.886+9C>A) | dbSNP |
| 12 | g.91055387_91055391delinsGTTAC | CA2054259599 | KERA | c.886+5_886+9delinsGTAAC (n.886+5_886+9delinsGTAAC) | |
| 12 | g.91055388T>A | CA2620149232 | KERA | c.886+8A>T (n.886+8A>T) | gnomAD v4 |
| 12 | g.91055394_91055397del | CA2054259600 | KERA | c.886+5_886+8del | dbSNP gnomAD v4 |
| 12 | g.91055389T>A | CA607142927 | KERA | c.886+7A>T (n.886+7A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055389T>C | CA6716486 | KERA | c.886+7A>G (n.886+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.91055389T= | CA2054259601 | KERA | c.886+7A= (n.886+7A=) | |
| 12 | g.91055390A>G | CA2620149233 | KERA | c.886+6T>C (n.886+6T>C) | gnomAD v4 |
| 12 | g.91055390A>T | CA2575245773 | KERA | c.886+6T>A (n.886+6T>A) | |
| 12 | g.91055393T>C | CA6716487 | KERA | c.886+3A>G (n.886+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.91055393T= | CA2054259602 | KERA | c.886+3A= (n.886+3A=) | |
| 12 | g.91055394A>C | CA386013129 | KERA | c.886+2T>G (n.886+2T>G) | |
| 12 | g.91055394A>G | CA386013130 | KERA | c.886+2T>C (n.886+2T>C) | |
| 12 | g.91055394A>T | CA386013131 | KERA | c.886+2T>A (n.886+2T>A) | |
| 12 | g.91055395C>A | CA386013134 | KERA | c.886+1G>T (n.886+1G>T) | |
| 12 | g.91055395C>G | CA386013133 | KERA | c.886+1G>C (n.886+1G>C) | |
| 12 | g.91055395C>T | CA386013132 | KERA | c.886+1G>A (n.886+1G>A) | |
| 12 | g.91055396T>A | CA386013135 | KERA | c.886A>T (p.Ser296Cys) | |
| 12 | g.91055396T>C | CA386013137 | KERA | c.886A>G (p.Ser296Gly) | |
| 12 | g.91055396T>G | CA386013136 | KERA | c.886A>C (p.Ser296Arg) | |
| 12 | g.91055397T>A | CA386013138 | KERA | c.885A>T (p.Lys295Asn) | |
| 12 | g.91055397T>C | CA481306333 | KERA | c.885A>G (p.Lys295=) | |
| 12 | g.91055397T>G | CA386013139 | KERA | c.885A>C (p.Lys295Asn) | |
| 12 | g.91055398T>A | CA386013140 | KERA | c.884A>T (p.Lys295Ile) | |
| 12 | g.91055398T>C | CA386013142 | KERA | c.884A>G (p.Lys295Arg) | |
| 12 | g.91055398T>G | CA386013141 | KERA | c.884A>C (p.Lys295Thr) | |
| 12 | g.91055399T>A | CA386013143 | KERA | c.883A>T (p.Lys295Ter) | |
| 12 | g.91055399T>C | CA6716488 | KERA | c.883A>G (p.Lys295Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.91055399T>G | CA386013144 | KERA | c.883A>C (p.Lys295Gln) | |
| 12 | g.91055399T= | CA2054259603 | KERA | c.883A= (p.Lys295=) | |
| 12 | g.91055400A>C | CA386013145 | KERA | c.882T>G (p.Ile294Met) | |
| 12 | g.91055400A>G | CA481306336 | KERA | c.882T>C (p.Ile294=) | |
| 12 | g.91055400A>T | CA481306337 | KERA | c.882T>A (p.Ile294=) | |
| 12 | g.91055401A>C | CA386013146 | KERA | c.881T>G (p.Ile294Ser) | |
| 12 | g.91055401A>G | CA386013147 | KERA | c.881T>C (p.Ile294Thr) | |
| 12 | g.91055401A>T | CA386013148 | KERA | c.881T>A (p.Ile294Asn) | |
| 12 | g.91055402T>A | CA386013149 | KERA | c.880A>T (p.Ile294Phe) | |
| 12 | g.91055402T>C | CA386013150 | KERA | c.880A>G (p.Ile294Val) | |
| 12 | g.91055402T>G | CA386013151 | KERA | c.880A>C (p.Ile294Leu) | |
| 12 | g.91055403T>A | CA241201162 | KERA | c.879A>T (p.Lys293Asn) | dbSNP gnomAD v4 |
| 12 | g.91055403T>C | CA481306341 | KERA | c.879A>G (p.Lys293=) | gnomAD v4 |
| 12 | g.91055403T>G | CA386013152 | KERA | c.879A>C (p.Lys293Asn) | |
| 12 | g.91055403T= | CA2054259604 | KERA | c.879A= (p.Lys293=) | |
| 12 | g.91055404T>A | CA386013155 | KERA | c.878A>T (p.Lys293Ile) | |
| 12 | g.91055404T>C | CA386013153 | KERA | c.878A>G (p.Lys293Arg) | |
| 12 | g.91055404T>G | CA386013154 | KERA | c.878A>C (p.Lys293Thr) | |
| 12 | g.91055405T>A | CA386013156 | KERA | c.877A>T (p.Lys293Ter) | |
| 12 | g.91055405T>C | CA386013157 | KERA | c.877A>G (p.Lys293Glu) | |
| 12 | g.91055405T>G | CA386013158 | KERA | c.877A>C (p.Lys293Gln) | gnomAD v4 |
| 12 | g.91055406G>A | CA481306345 | KERA | c.876C>T (p.Asn292=) | |
| 12 | g.91055406G>C | CA386013159 | KERA | c.876C>G (p.Asn292Lys) | |
| 12 | g.91055406G>T | CA386013160 | KERA | c.876C>A (p.Asn292Lys) | gnomAD v4 |
| 12 | g.91055407T>A | CA386013161 | KERA | c.875A>T (p.Asn292Ile) | |
| 12 | g.91055407T>C | CA386013162 | KERA | c.875A>G (p.Asn292Ser) | |
| 12 | g.91055407T>G | CA386013163 | KERA | c.875A>C (p.Asn292Thr) | |
| 12 | g.91055408T>A | CA386013166 | KERA | c.874A>T (p.Asn292Tyr) | COSMIC |
| 12 | g.91055408T>C | CA386013165 | KERA | c.874A>G (p.Asn292Asp) | |
| 12 | g.91055408T>G | CA386013164 | KERA | c.874A>C (p.Asn292His) | |
| 12 | g.91055409A>C | CA386013167 | KERA | c.873T>G (p.His291Gln) | |
| 12 | g.91055409A>G | CA481306347 | KERA | c.873T>C (p.His291=) | gnomAD v4 |
| 12 | g.91055409A>T | CA386013168 | KERA | c.873T>A (p.His291Gln) | |
| 12 | g.91055410T>A | CA386013169 | KERA | c.872A>T (p.His291Leu) | |
| 12 | g.91055410T>C | CA386013170 | KERA | c.872A>G (p.His291Arg) | |
| 12 | g.91055410T>G | CA386013171 | KERA | c.872A>C (p.His291Pro) | |
| 12 | g.91055411G>A | CA386013172 | KERA | c.871C>T (p.His291Tyr) | COSMIC |
| 12 | g.91055411G>C | CA386013173 | KERA | c.871C>G (p.His291Asp) | |
| 12 | g.91055411G>T | CA386013174 | KERA | c.871C>A (p.His291Asn) | |
| 12 | g.91055412A>C | CA386013175 | KERA | c.870T>G (p.Asp290Glu) | |
| 12 | g.91055412A>G | CA481306351 | KERA | c.870T>C (p.Asp290=) | |
| 12 | g.91055412A>T | CA386013176 | KERA | c.870T>A (p.Asp290Glu) | |
| 12 | g.91055413T>A | CA386013179 | KERA | c.869A>T (p.Asp290Val) | |
| 12 | g.91055413T>C | CA386013177 | KERA | c.869A>G (p.Asp290Gly) | dbSNP gnomAD v4 |
| 12 | g.91055413T>G | CA386013178 | KERA | c.869A>C (p.Asp290Ala) | |
| 12 | g.91055413T= | CA2054259605 | KERA | c.869A= (p.Asp290=) | |
| 12 | g.91055414C>A | CA386013180 | KERA | c.868G>T (p.Asp290Tyr) | |
| 12 | g.91055414C>G | CA386013181 | KERA | c.868G>C (p.Asp290His) | gnomAD v4 |
| 12 | g.91055414C>T | CA386013182 | KERA | c.868G>A (p.Asp290Asn) | |
| 12 | g.91055415A= | CA2054259606 | KERA | c.867T= (p.Leu289=) | |
| 12 | g.91055415A>C | CA481306356 | KERA | c.867T>G (p.Leu289=) | |
| 12 | g.91055415A>G | CA481306354 | KERA | c.867T>C (p.Leu289=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.91055415A>T | CA481306353 | KERA | c.867T>A (p.Leu289=) | |
| 12 | g.91055416A>C | CA386013183 | KERA | c.866T>G (p.Leu289Arg) | |
| 12 | g.91055416A>G | CA386013184 | KERA | c.866T>C (p.Leu289Pro) | |
| 12 | g.91055416A>T | CA386013185 | KERA | c.866T>A (p.Leu289His) | |
| 12 | g.91055417G>A | CA386013186 | KERA | c.865C>T (p.Leu289Phe) | |
| 12 | g.91055417G>C | CA386013187 | KERA | c.865C>G (p.Leu289Val) | |
| 12 | g.91055417G>T | CA386013188 | KERA | c.865C>A (p.Leu289Ile) | |
| 12 | g.91055418G>A | CA481306357 | KERA | c.864C>T (p.His288=) | dbSNP gnomAD v4 COSMIC |
| 12 | g.91055418G>C | CA386013190 | KERA | c.864C>G (p.His288Gln) | |
| 12 | g.91055418G= | CA2054259607 | KERA | c.864C= (p.His288=) | |
| 12 | g.91055418G>T | CA386013189 | KERA | c.864C>A (p.His288Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.91055419T>A | CA241201163 | KERA | c.863A>T (p.His288Leu) | dbSNP |
| 12 | g.91055419T>C | CA386013191 | KERA | c.863A>G (p.His288Arg) | gnomAD v4 |
| 12 | g.91055419T>G | CA386013192 | KERA | c.863A>C (p.His288Pro) | |
| 12 | g.91055419T= | CA2054259608 | KERA | c.863A= (p.His288=) | |
| 12 | g.91055420G>A | CA386013193 | KERA | c.862C>T (p.His288Tyr) | |
| 12 | g.91055420G>C | CA386013194 | KERA | c.862C>G (p.His288Asp) | |
| 12 | g.91055420G>T | CA386013195 | KERA | c.862C>A (p.His288Asn) | |
| 12 | g.91055421A>C | CA481306359 | KERA | c.861T>G (p.Leu287=) | |
| 12 | g.91055421A>G | CA481306361 | KERA | c.861T>C (p.Leu287=) | |
| 12 | g.91055421A>T | CA481306360 | KERA | c.861T>A (p.Leu287=) | |
| 12 | g.91055422A>C | CA386013196 | KERA | c.860T>G (p.Leu287Arg) | |
| 12 | g.91055422A>G | CA386013197 | KERA | c.860T>C (p.Leu287Pro) | |
| 12 | g.91055422A>T | CA386013198 | KERA | c.860T>A (p.Leu287His) | |
| 12 | g.91055423G>A | CA386013200 | KERA | c.859C>T (p.Leu287Phe) | |
| 12 | g.91055423G>C | CA386013201 | KERA | c.859C>G (p.Leu287Val) | |
| 12 | g.91055423G>T | CA386013202 | KERA | c.859C>A (p.Leu287Ile) |