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)
| |
12 | g.91055424G>A | CA481306364 | KERA | c.858C>T (p.His286=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055424G>C | CA386013204 | KERA | c.858C>G (p.His286Gln)
| |
12 | g.91055424G= | CA2054259609 | KERA | c.858C= (p.His286=)
| |
12 | g.91055424G>T | CA386013203 | KERA | c.858C>A (p.His286Gln)
| |
12 | g.91055425T>A | CA386013205 | KERA | c.857A>T (p.His286Leu)
| |
12 | g.91055425T>C | CA386013206 | KERA | c.857A>G (p.His286Arg)
| |
12 | g.91055425T>G | CA386013207 | KERA | c.857A>C (p.His286Pro)
| |
12 | g.91055426G>A | CA386013208 | KERA | c.856C>T (p.His286Tyr)
| gnomAD v4 |
12 | g.91055426G>C | CA386013209 | KERA | c.856C>G (p.His286Asp)
| |
12 | g.91055426G>T | CA386013210 | KERA | c.856C>A (p.His286Asn)
| |
12 | g.91055427C>A | CA386013211 | KERA | c.855G>T (p.Gln285His)
| |
12 | g.91055427C= | CA2054259610 | KERA | c.855G= (p.Gln285=)
| |
12 | g.91055427C>G | CA241201167 | KERA | c.855G>C (p.Gln285His)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055427C>T | CA6716489 | KERA | c.855G>A (p.Gln285=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055428T>A | CA386013212 | KERA | c.854A>T (p.Gln285Leu)
| |
12 | g.91055428T>C | CA6716490 | KERA | c.854A>G (p.Gln285Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055428T>G | CA386013213 | KERA | c.854A>C (p.Gln285Pro)
| |
12 | g.91055428T= | CA2054259611 | KERA | c.854A= (p.Gln285=)
| |
12 | g.91055429G>A | CA386013214 | KERA | c.853C>T (p.Gln285Ter)
| dbSNP gnomAD v4 |
12 | g.91055429G>C | CA386013216 | KERA | c.853C>G (p.Gln285Glu)
| |
12 | g.91055429G= | CA2054259612 | KERA | c.853C= (p.Gln285=)
| |
12 | g.91055429G>T | CA386013215 | KERA | c.853C>A (p.Gln285Lys)
| |
12 | g.91055430C>A | CA6716491 | KERA | c.852G>T (p.Leu284=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055430C= | CA2054259613 | KERA | c.852G= (p.Leu284=)
| |
12 | g.91055430C>G | CA481306370 | KERA | c.852G>C (p.Leu284=)
| |
12 | g.91055430C>T | CA481306371 | KERA | c.852G>A (p.Leu284=)
| |
12 | g.91055431A>C | CA386013217 | KERA | c.851T>G (p.Leu284Arg)
| |
12 | g.91055431A>G | CA386013218 | KERA | c.851T>C (p.Leu284Pro)
| |
12 | g.91055431A>T | CA386013219 | KERA | c.851T>A (p.Leu284Gln)
| |
12 | g.91055432G>A | CA6716492 | KERA | c.850C>T (p.Leu284=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055432G>C | CA386013220 | KERA | c.850C>G (p.Leu284Val)
| |
12 | g.91055432G= | CA2054259614 | KERA | c.850C= (p.Leu284=)
| |
12 | g.91055432G>T | CA386013221 | KERA | c.850C>A (p.Leu284Met)
| |
12 | g.91055433A>C | CA386013222 | KERA | c.849T>G (p.His283Gln)
| |
12 | g.91055433A>G | CA481306375 | KERA | c.849T>C (p.His283=)
| |
12 | g.91055433A>T | CA386013223 | KERA | c.849T>A (p.His283Gln)
| gnomAD v4 |
12 | g.91055434T>A | CA386013226 | KERA | c.848A>T (p.His283Leu)
| |
12 | g.91055434T>C | CA386013225 | KERA | c.848A>G (p.His283Arg)
| |
12 | g.91055434T>G | CA386013224 | KERA | c.848A>C (p.His283Pro)
| gnomAD v4 |
12 | g.91055435G>A | CA386013227 | KERA | c.847C>T (p.His283Tyr)
| |
12 | g.91055435G>C | CA386013228 | KERA | c.847C>G (p.His283Asp)
| |
12 | g.91055435G>T | CA386013229 | KERA | c.847C>A (p.His283Asn)
| dbSNP gnomAD v4 |
12 | g.91055436A= | CA2054259615 | KERA | c.846T= (p.Ala282=)
| |
12 | g.91055436A>C | CA481306377 | KERA | c.846T>G (p.Ala282=)
| gnomAD v4 |
12 | g.91055436A>G | CA6716493 | KERA | c.846T>C (p.Ala282=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055436A>T | CA481306379 | KERA | c.846T>A (p.Ala282=)
| |
12 | g.91055437G>A | CA6716494 | KERA | c.845C>T (p.Ala282Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055437G>C | CA386013230 | KERA | c.845C>G (p.Ala282Gly)
| |
12 | g.91055437G= | CA2054259616 | KERA | c.845C= (p.Ala282=)
| |
12 | g.91055437G>T | CA386013231 | KERA | c.845C>A (p.Ala282Asp)
| |
12 | g.91055438C>A | CA386013232 | KERA | c.844G>T (p.Ala282Ser)
| |
12 | g.91055438C>G | CA386013233 | KERA | c.844G>C (p.Ala282Pro)
| |
12 | g.91055438C>T | CA386013234 | KERA | c.844G>A (p.Ala282Thr)
| |
12 | g.91055439_91055446dup | CA6716495 | KERA | c.837_844dup (p.Ala282GlufsTer19)
| dbSNP ExAC gnomAD v4 |
12 | g.91055439A>C | CA386013235 | KERA | c.843T>G (p.Ser281Arg)
| |
12 | g.91055439A>G | CA481306381 | KERA | c.843T>C (p.Ser281=)
| gnomAD v4 |
12 | g.91055439A>T | CA386013236 | KERA | c.843T>A (p.Ser281Arg)
| |
12 | g.91055440C>A | CA386013237 | KERA | c.842G>T (p.Ser281Ile)
| |
12 | g.91055440C>G | CA386013238 | KERA | c.842G>C (p.Ser281Thr)
| |
12 | g.91055440C>T | CA386013239 | KERA | c.842G>A (p.Ser281Asn)
| gnomAD v4 |
12 | g.91055441T>A | CA386013240 | KERA | c.841A>T (p.Ser281Cys)
| |
12 | g.91055441T>C | CA386013241 | KERA | c.841A>G (p.Ser281Gly)
| |
12 | g.91055441T>G | CA386013242 | KERA | c.841A>C (p.Ser281Arg)
| |
12 | g.91055442G>A | CA481306385 | KERA | c.840C>T (p.Ile280=)
| |
12 | g.91055442G>C | CA386013243 | KERA | c.840C>G (p.Ile280Met)
| |
12 | g.91055442G>T | CA481306384 | KERA | c.840C>A (p.Ile280=)
| |
12 | g.91055443A>C | CA386013244 | KERA | c.839T>G (p.Ile280Ser)
| |
12 | g.91055443A>G | CA386013245 | KERA | c.839T>C (p.Ile280Thr)
| |
12 | g.91055443A>T | CA386013246 | KERA | c.839T>A (p.Ile280Asn)
| |
12 | g.91055444T>A | CA386013247 | KERA | c.838A>T (p.Ile280Phe)
| |
12 | g.91055444T>C | CA386013248 | KERA | c.838A>G (p.Ile280Val)
| |
12 | g.91055444T>G | CA386013249 | KERA | c.838A>C (p.Ile280Leu)
| |
12 | g.91055445T>A | CA481306387 | KERA | c.837A>T (p.Arg279=)
| |
12 | g.91055445T>C | CA481306388 | KERA | c.837A>G (p.Arg279=)
| dbSNP |
12 | g.91055445T>G | CA481306389 | KERA | c.837A>C (p.Arg279=)
| |
12 | g.91055445T= | CA2054259617 | KERA | c.837A= (p.Arg279=)
| |
12 | g.91055446C>A | CA386013251 | KERA | c.836G>T (p.Arg279Leu)
| |
12 | g.91055446C= | CA2054259618 | KERA | c.836G= (p.Arg279=)
| |
12 | g.91055446C>G | CA386013250 | KERA | c.836G>C (p.Arg279Pro)
| |
12 | g.91055446C>T | CA6716496 | KERA | c.836G>A (p.Arg279Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.91055447G>A | CA144359 | KERA | c.835C>T (p.Arg279Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055447G>C | CA386013252 | KERA | c.835C>G (p.Arg279Gly)
| |
12 | g.91055447G= | CA2054259619 | KERA | c.835C= (p.Arg279=)
| |
12 | g.91055447G>T | CA481306393 | KERA | c.835C>A (p.Arg279=)
| |
12 | g.91055450del | CA2620149234 | KERA | c.835del (p.Arg279GlufsTer19)
| gnomAD v4 |
12 | g.91055448G>A | CA481306394 | KERA | c.834C>T (p.Pro278=)
| gnomAD v4 |
12 | g.91055448G>C | CA481306396 | KERA | c.834C>G (p.Pro278=)
| |
12 | g.91055448G>T | CA481306395 | KERA | c.834C>A (p.Pro278=)
| |
12 | g.91055449G>A | CA386013253 | KERA | c.833C>T (p.Pro278Leu)
| dbSNP |
12 | g.91055449G>C | CA386013254 | KERA | c.833C>G (p.Pro278Arg)
| |
12 | g.91055449G= | CA2054259620 | KERA | c.833C= (p.Pro278=)
| |
12 | g.91055449G>T | CA386013255 | KERA | c.833C>A (p.Pro278His)
| |
12 | g.91055450G>A | CA6716497 | KERA | c.832C>T (p.Pro278Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.91055450G>C | CA386013256 | KERA | c.832C>G (p.Pro278Ala)
| |
12 | g.91055450G= | CA2054259621 | KERA | c.832C= (p.Pro278=)
| |
12 | g.91055450G>T | CA386013257 | KERA | c.832C>A (p.Pro278Thr)
| |
12 | g.91055451A>C | CA481306398 | KERA | c.831T>G (p.Val277=)
| |
12 | g.91055451A>G | CA481306399 | KERA | c.831T>C (p.Val277=)
| |
12 | g.91055451A>T | CA481306400 | KERA | c.831T>A (p.Val277=)
| |
12 | g.91055452A>C | CA386013258 | KERA | c.830T>G (p.Val277Gly)
| |
12 | g.91055452A>G | CA386013259 | KERA | c.830T>C (p.Val277Ala)
| |
12 | g.91055452A>T | CA386013260 | KERA | c.830T>A (p.Val277Asp)
| |
12 | g.91055453C>A | CA6716499 | KERA | c.829G>T (p.Val277Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055453C= | CA2054259622 | KERA | c.829G= (p.Val277=)
| |
12 | g.91055453C>G | CA386013261 | KERA | c.829G>C (p.Val277Leu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055453C>T | CA6716498 | KERA | c.829G>A (p.Val277Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055454C>A | CA6716500 | KERA | c.828G>T (p.Lys276Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055454C= | CA2054259623 | KERA | c.828G= (p.Lys276=)
| |
12 | g.91055454C>G | CA6716502 | KERA | c.828G>C (p.Lys276Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055454C>T | CA6716501 | KERA | c.828G>A (p.Lys276=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055455T>A | CA386013262 | KERA | c.827A>T (p.Lys276Met)
| |
12 | g.91055455T>C | CA386013263 | KERA | c.827A>G (p.Lys276Arg)
| |
12 | g.91055455T>G | CA386013264 | KERA | c.827A>C (p.Lys276Thr)
| |
12 | g.91055456T>A | CA386013265 | KERA | c.826A>T (p.Lys276Ter)
| |
12 | g.91055456T>C | CA386013266 | KERA | c.826A>G (p.Lys276Glu)
| gnomAD v4 |
12 | g.91055456T>G | CA386013267 | KERA | c.826A>C (p.Lys276Gln)
| |
12 | g.91055457T>A | CA481306407 | KERA | c.825A>T (p.Thr275=)
| |
12 | g.91055457T>C | CA481306405 | KERA | c.825A>G (p.Thr275=)
| |
12 | g.91055457T>G | CA481306406 | KERA | c.825A>C (p.Thr275=)
| |
12 | g.91055458G>A | CA386013268 | KERA | c.824C>T (p.Thr275Ile)
| gnomAD v4 |
12 | g.91055458G>C | CA386013269 | KERA | c.824C>G (p.Thr275Arg)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.91055458G= | CA2054259624 | KERA | c.824C= (p.Thr275=)
| |
12 | g.91055458G>T | CA386013270 | KERA | c.824C>A (p.Thr275Lys)
| COSMIC |
12 | g.91055459T>A | CA386013271 | KERA | c.823A>T (p.Thr275Ser)
| |
12 | g.91055459T>C | CA386013273 | KERA | c.823A>G (p.Thr275Ala)
| |
12 | g.91055459T>G | CA386013272 | KERA | c.823A>C (p.Thr275Pro)
| gnomAD v4 |
12 | g.91055460G>A | CA481306417 | KERA | c.822C>T (p.Leu274=)
| dbSNP |
12 | g.91055460G>C | CA481306418 | KERA | c.822C>G (p.Leu274=)
| |
12 | g.91055460G>T | CA481306420 | KERA | c.822C>A (p.Leu274=)
| |
12 | g.91055461A>C | CA386013274 | KERA | c.821T>G (p.Leu274Arg)
| |
12 | g.91055461A>G | CA386013275 | KERA | c.821T>C (p.Leu274Pro)
| |
12 | g.91055461A>T | CA386013276 | KERA | c.821T>A (p.Leu274His)
| gnomAD v4 |
12 | g.91055462G>A | CA386013277 | KERA | c.820C>T (p.Leu274Phe)
| |
12 | g.91055462G>C | CA386013278 | KERA | c.820C>G (p.Leu274Val)
| |
12 | g.91055462G>T | CA386013279 | KERA | c.820C>A (p.Leu274Ile)
| |
12 | g.91055463T>A | CA386013280 | KERA | c.819A>T (p.Gln273His)
| |
12 | g.91055463T>C | CA241201216 | KERA | c.819A>G (p.Gln273=)
| dbSNP gnomAD v4 |
12 | g.91055463T>G | CA386013281 | KERA | c.819A>C (p.Gln273His)
| |
12 | g.91055463T= | CA2054259625 | KERA | c.819A= (p.Gln273=)
| |
12 | g.91055464T>A | CA386013282 | KERA | c.818A>T (p.Gln273Leu)
| |
12 | g.91055464T>C | CA386013284 | KERA | c.818A>G (p.Gln273Arg)
| |
12 | g.91055464T>G | CA386013283 | KERA | c.818A>C (p.Gln273Pro)
| |
12 | g.91055465G>A | CA386013285 | KERA | c.817C>T (p.Gln273Ter)
| |
12 | g.91055465G>C | CA386013287 | KERA | c.817C>G (p.Gln273Glu)
| |
12 | g.91055465G>T | CA386013286 | KERA | c.817C>A (p.Gln273Lys)
| |
12 | g.91055466A= | CA2054259626 | KERA | c.816T= (p.Asn272=)
| |
12 | g.91055466A>C | CA386013288 | KERA | c.816T>G (p.Asn272Lys)
| |
12 | g.91055466A>G | CA481306430 | KERA | c.816T>C (p.Asn272=)
| |
12 | g.91055466A>T | CA386013289 | KERA | c.816T>A (p.Asn272Lys)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055467T>A | CA386013290 | KERA | c.815A>T (p.Asn272Ile)
| |
12 | g.91055467T>C | CA386013291 | KERA | c.815A>G (p.Asn272Ser)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055467T>G | CA386013292 | KERA | c.815A>C (p.Asn272Thr)
| |
12 | g.91055467T= | CA2054259627 | KERA | c.815A= (p.Asn272=)
| |
12 | g.91055468T>A | CA386013293 | KERA | c.814A>T (p.Asn272Tyr)
| |
12 | g.91055468T>C | CA386013294 | KERA | c.814A>G (p.Asn272Asp)
| gnomAD v4 |
12 | g.91055468T>G | CA386013295 | KERA | c.814A>C (p.Asn272His)
| |
12 | g.91055469G>A | CA481306435 | KERA | c.813C>T (p.His271=)
| gnomAD v4 |
12 | g.91055469G>C | CA386013296 | KERA | c.813C>G (p.His271Gln)
| |
12 | g.91055469G>T | CA386013297 | KERA | c.813C>A (p.His271Gln)
| |
12 | g.91055470T>A | CA386013300 | KERA | c.812A>T (p.His271Leu)
| |
12 | g.91055470T>C | CA386013298 | KERA | c.812A>G (p.His271Arg)
| gnomAD v4 |
12 | g.91055470T>G | CA386013299 | KERA | c.812A>C (p.His271Pro)
| |
12 | g.91055471G>A | CA386013301 | KERA | c.811C>T (p.His271Tyr)
| |
12 | g.91055471G>C | CA386013302 | KERA | c.811C>G (p.His271Asp)
| |
12 | g.91055471G>T | CA386013303 | KERA | c.811C>A (p.His271Asn)
| |
12 | g.91055472C>A | CA6716504 | KERA | c.810G>T (p.Ser270=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055472C= | CA2054259628 | KERA | c.810G= (p.Ser270=)
| |
12 | g.91055472C>G | CA481306440 | KERA | c.810G>C (p.Ser270=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055472C>T | CA6716503 | KERA | c.810G>A (p.Ser270=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055473G>A | CA6716505 | KERA | c.809C>T (p.Ser270Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.91055473G>C | CA386013304 | KERA | c.809C>G (p.Ser270Trp)
| dbSNP |
12 | g.91055473G= | CA2054259629 | KERA | c.809C= (p.Ser270=)
| |
12 | g.91055473G>T | CA386013305 | KERA | c.809C>A (p.Ser270Ter)
| |
12 | g.91055474A= | CA2054259630 | KERA | c.808T= (p.Ser270=)
| |
12 | g.91055474A>C | CA241201223 | KERA | c.808T>G (p.Ser270Ala)
| dbSNP |
12 | g.91055474A>G | CA386013307 | KERA | c.808T>C (p.Ser270Pro)
| |
12 | g.91055474A>T | CA386013306 | KERA | c.808T>A (p.Ser270Thr)
| |
12 | g.91055475C>A | CA481306447 | KERA | c.807G>T (p.Leu269=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055475C= | CA2054259631 | KERA | c.807G= (p.Leu269=)
| |
12 | g.91055475C>G | CA481306448 | KERA | c.807G>C (p.Leu269=)
| |
12 | g.91055475C>T | CA241201233 | KERA | c.807G>A (p.Leu269=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055476A>C | CA386013308 | KERA | c.806T>G (p.Leu269Arg)
| |
12 | g.91055476A>G | CA386013309 | KERA | c.806T>C (p.Leu269Pro)
| |
12 | g.91055476A>T | CA386013310 | KERA | c.806T>A (p.Leu269Gln)
| |
12 | g.91055477G>A | CA481306450 | KERA | c.805C>T (p.Leu269=)
| |
12 | g.91055477G>C | CA386013311 | KERA | c.805C>G (p.Leu269Val)
| |
12 | g.91055477G>T | CA386013312 | KERA | c.805C>A (p.Leu269Met)
| |
12 | g.91055478T>A | CA386013313 | KERA | c.804A>T (p.Gln268His)
| dbSNP |
12 | g.91055478T>C | CA241201239 | KERA | c.804A>G (p.Gln268=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055478T>G | CA386013314 | KERA | c.804A>C (p.Gln268His)
| |
12 | g.91055478T= | CA2054259632 | KERA | c.804A= (p.Gln268=)
| |
12 | g.91055479T>A | CA386013315 | KERA | c.803A>T (p.Gln268Leu)
| |
12 | g.91055479T>C | CA386013316 | KERA | c.803A>G (p.Gln268Arg)
| |
12 | g.91055479T>G | CA386013317 | KERA | c.803A>C (p.Gln268Pro)
| |
12 | g.91055480G>A | CA386013318 | KERA | c.802C>T (p.Gln268Ter)
| |
12 | g.91055480G>C | CA386013320 | KERA | c.802C>G (p.Gln268Glu)
| |
12 | g.91055480G>T | CA386013319 | KERA | c.802C>A (p.Gln268Lys)
| |
12 | g.91055481A>C | CA481306458 | KERA | c.801T>G (p.Leu267=)
| |
12 | g.91055481A>G | CA481306459 | KERA | c.801T>C (p.Leu267=)
| COSMIC |
12 | g.91055481A>T | CA481306461 | KERA | c.801T>A (p.Leu267=)
| |
12 | g.91055482A>C | CA386013321 | KERA | c.800T>G (p.Leu267Arg)
| |
12 | g.91055482A>G | CA386013322 | KERA | c.800T>C (p.Leu267Pro)
| |
12 | g.91055482A>T | CA386013323 | KERA | c.800T>A (p.Leu267His)
| |
12 | g.91055483G>A | CA241201245 | KERA | c.799C>T (p.Leu267Phe)
| dbSNP gnomAD v4 |
12 | g.91055483G>C | CA386013324 | KERA | c.799C>G (p.Leu267Val)
| gnomAD v4 |
12 | g.91055483G= | CA2054259633 | KERA | c.799C= (p.Leu267=)
| |
12 | g.91055483G>T | CA386013325 | KERA | c.799C>A (p.Leu267Ile)
| gnomAD v4 |
12 | g.91055484A>C | CA386013326 | KERA | c.798T>G (p.Asp266Glu)
| |
12 | g.91055484A>G | CA481306468 | KERA | c.798T>C (p.Asp266=)
| gnomAD v4 |
12 | g.91055484A>T | CA386013327 | KERA | c.798T>A (p.Asp266Glu)
| |
12 | g.91055485T>A | CA386013328 | KERA | c.797A>T (p.Asp266Val)
| |
12 | g.91055485T>C | CA6716506 | KERA | c.797A>G (p.Asp266Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055485T>G | CA386013329 | KERA | c.797A>C (p.Asp266Ala)
| |
12 | g.91055485T= | CA2054259634 | KERA | c.797A= (p.Asp266=)
| |
12 | g.91055486C>A | CA386013330 | KERA | c.796G>T (p.Asp266Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055486C= | CA2054259635 | KERA | c.796G= (p.Asp266=)
| |
12 | g.91055486C>G | CA386013331 | KERA | c.796G>C (p.Asp266His)
| |
12 | g.91055486C>T | CA386013332 | KERA | c.796G>A (p.Asp266Asn)
| |
12 | g.91055487T>A | CA481306475 | KERA | c.795A>T (p.Leu265=)
| |
12 | g.91055487T>C | CA481306476 | KERA | c.795A>G (p.Leu265=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055487T>G | CA481306477 | KERA | c.795A>C (p.Leu265=)
| |
12 | g.91055487T= | CA2054259636 | KERA | c.795A= (p.Leu265=)
| |
12 | g.91055488A= | CA2054259637 | KERA | c.794T= (p.Leu265=)
| |
12 | g.91055488A>C | CA386013333 | KERA | c.794T>G (p.Leu265Arg)
| |
12 | g.91055488A>G | CA6716507 | KERA | c.794T>C (p.Leu265Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055488A>T | CA386013334 | KERA | c.794T>A (p.Leu265Gln)
| |
12 | g.91055489G>A | CA481306478 | KERA | c.793C>T (p.Leu265=)
| |
12 | g.91055489G>C | CA386013335 | KERA | c.793C>G (p.Leu265Val)
| |
12 | g.91055489G>T | CA386013336 | KERA | c.793C>A (p.Leu265Ile)
| |
12 | g.91055490A= | CA2054259638 | KERA | c.792T= (p.Ile264=)
| |
12 | g.91055490A>C | CA386013337 | KERA | c.792T>G (p.Ile264Met)
| |
12 | g.91055490A>G | CA481306480 | KERA | c.792T>C (p.Ile264=)
| |
12 | g.91055490A>T | CA6716508 | KERA | c.792T>A (p.Ile264=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055491A>C | CA386013338 | KERA | c.791T>G (p.Ile264Ser)
| |
12 | g.91055491A>G | CA386013339 | KERA | c.791T>C (p.Ile264Thr)
| |
12 | g.91055491A>T | CA386013340 | KERA | c.791T>A (p.Ile264Asn)
| |
12 | g.91055492T>A | CA386013341 | KERA | c.790A>T (p.Ile264Phe)
| |
12 | g.91055492T>C | CA6716509 | KERA | c.790A>G (p.Ile264Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.91055492T>G | CA386013342 | KERA | c.790A>C (p.Ile264Leu)
| |
12 | g.91055492T= | CA2054259639 | KERA | c.790A= (p.Ile264=)
| |
12 | g.91055493T>A | CA481306483 | KERA | c.789A>T (p.Ser263=)
| |
12 | g.91055493T>C | CA481306484 | KERA | c.789A>G (p.Ser263=)
| |
12 | g.91055493T>G | CA481306486 | KERA | c.789A>C (p.Ser263=)
| |
12 | g.91055497_91055499del | CA2620149235 | KERA | c.787_789del (p.Ser263del)
| gnomAD v4 |
12 | g.91055494G>A | CA241201269 | KERA | c.788C>T (p.Ser263Leu)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.91055494G>C | CA386013343 | KERA | c.788C>G (p.Ser263Ter)
| |
12 | g.91055494G= | CA2054259640 | KERA | c.788C= (p.Ser263=)
| |
12 | g.91055494G>T | CA386013344 | KERA | c.788C>A (p.Ser263Ter)
| |
12 | g.91055495A>C | CA386013345 | KERA | c.787T>G (p.Ser263Ala)
| |
12 | g.91055495A>G | CA386013346 | KERA | c.787T>C (p.Ser263Pro)
| |
12 | g.91055495A>T | CA386013347 | KERA | c.787T>A (p.Ser263Thr)
| |
12 | g.91055496T>A | CA6716510 | KERA | c.786A>T (p.Ser262=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055496T>C | CA481306490 | KERA | c.786A>G (p.Ser262=)
| dbSNP gnomAD v4 |
12 | g.91055496T>G | CA481306491 | KERA | c.786A>C (p.Ser262=)
| |
12 | g.91055496T= | CA2054259641 | KERA | c.786A= (p.Ser262=)
| |
12 | g.91055497G>A | CA386013348 | KERA | c.785C>T (p.Ser262Leu)
| |
12 | g.91055497G>C | CA386013349 | KERA | c.785C>G (p.Ser262Ter)
| |
12 | g.91055497G>T | CA386013350 | KERA | c.785C>A (p.Ser262Ter)
| |
12 | g.91055498A>C | CA386013351 | KERA | c.784T>G (p.Ser262Ala)
| |
12 | g.91055498A>G | CA386013353 | KERA | c.784T>C (p.Ser262Pro)
| |
12 | g.91055498A>T | CA386013352 | KERA | c.784T>A (p.Ser262Thr)
| |
12 | g.91055499T>A | CA481306496 | KERA | c.783A>T (p.Val261=)
| |
12 | g.91055499T>C | CA481306493 | KERA | c.783A>G (p.Val261=)
| |
12 | g.91055499T>G | CA481306495 | KERA | c.783A>C (p.Val261=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.91055499T= | CA2054259642 | KERA | c.783A= (p.Val261=)
| |
12 | g.91055500A= | CA2054259643 | KERA | c.782T= (p.Val261=)
| |
12 | g.91055500A>C | CA386013354 | KERA | c.782T>G (p.Val261Gly)
| |
12 | g.91055500A>G | CA386013355 | KERA | c.782T>C (p.Val261Ala)
| dbSNP COSMIC |
12 | g.91055500A>T | CA386013356 | KERA | c.782T>A (p.Val261Glu)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.91055501C>A | CA386013357 | KERA | c.781G>T (p.Val261Leu)
| |
12 | g.91055501C>G | CA386013358 | KERA | c.781G>C (p.Val261Leu)
| |
12 | g.91055501C>T | CA386013359 | KERA | c.781G>A (p.Val261Ile)
| gnomAD v4 |
12 | g.91055502A= | CA2054259644 | KERA | c.780T= (p.Asp260=)
| |
12 | g.91055502A>C | CA386013360 | KERA | c.780T>G (p.Asp260Glu)
| dbSNP |
12 | g.91055502A>G | CA481306501 | KERA | c.780T>C (p.Asp260=)
| |
12 | g.91055502A>T | CA386013361 | KERA | c.780T>A (p.Asp260Glu)
| |
12 | g.91055503T>A | CA386013362 | KERA | c.779A>T (p.Asp260Val)
| dbSNP |
12 | g.91055503T>C | CA386013363 | KERA | c.779A>G (p.Asp260Gly)
| dbSNP |
12 | g.91055503T>G | CA386013364 | KERA | c.779A>C (p.Asp260Ala)
| |
12 | g.91055503T= | CA2054259645 | KERA | c.779A= (p.Asp260=)
| |
12 | g.91055505_91055512del | CA2695217070 | KERA | c.772_779del (p.Gly258CysfsTer30)
| |