7 | g.107674283_107674294dup | CA1732746109 | SLC26A4 | c.535_546dup (p.Asp182_Thr183insAlaAlaArgAsp)
| dbSNP gnomAD v4 |
7 | g.107674290G>A | CA368848240 | SLC26A4 | c.542G>A (p.Arg181Lys)
| dbSNP |
7 | g.107674290G>C | CA368848241 | SLC26A4 | c.542G>C (p.Arg181Thr)
| dbSNP gnomAD v2 gnomAD v4 |
7 | g.107674290G= | CA1732746142 | SLC26A4 | c.542G= (p.Arg181=)
| |
7 | g.107674290G>T | CA368848242 | SLC26A4 | c.542G>T (p.Arg181Ile)
| gnomAD v4 |
7 | g.107674291A= | CA1732746146 | SLC26A4 | c.543A= (p.Arg181=)
| |
7 | g.107674291A>C | CA368848244 | SLC26A4 | c.543A>C (p.Arg181Ser)
| |
7 | g.107674291A>G | CA457105417 | SLC26A4 | c.543A>G (p.Arg181=)
| |
7 | g.107674291A>T | CA164216363 | SLC26A4 | c.543A>T (p.Arg181Ser)
| dbSNP gnomAD v3 gnomAD v4 |
7 | g.107674292G>A | CA368848256 | SLC26A4 | c.544G>A (p.Asp182Asn)
| |
7 | g.107674292G>C | CA164216364 | SLC26A4 | c.544G>C (p.Asp182His)
| dbSNP gnomAD v4 |
7 | g.107674292G= | CA1732746150 | SLC26A4 | c.544G= (p.Asp182=)
| |
7 | g.107674292G>T | CA368848253 | SLC26A4 | c.544G>T (p.Asp182Tyr)
| |
7 | g.107674293A= | CA1732746159 | SLC26A4 | c.545A= (p.Asp182=)
| |
7 | g.107674293A>C | CA368848258 | SLC26A4 | c.545A>C (p.Asp182Ala)
| |
7 | g.107674293A>G | CA368848259 | SLC26A4 | c.545A>G (p.Asp182Gly)
| |
7 | g.107674293A>T | CA132730 | SLC26A4 | c.545A>T (p.Asp182Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107674294T>A | CA368848262 | SLC26A4 | c.546T>A (p.Asp182Glu)
| |
7 | g.107674294T>C | CA457105418 | SLC26A4 | c.546T>C (p.Asp182=)
| |
7 | g.107674294T>G | CA368848270 | SLC26A4 | c.546T>G (p.Asp182Glu)
| |
7 | g.107674295A>C | CA368848275 | SLC26A4 | c.547A>C (p.Thr183Pro)
| gnomAD v4 |
7 | g.107674295A>G | CA368848277 | SLC26A4 | c.547A>G (p.Thr183Ala)
| |
7 | g.107674295A>T | CA368848278 | SLC26A4 | c.547A>T (p.Thr183Ser)
| |
7 | g.107674296C>A | CA368848281 | SLC26A4 | c.548C>A (p.Thr183Lys)
| |
7 | g.107674296C>G | CA368848282 | SLC26A4 | c.548C>G (p.Thr183Arg)
| |
7 | g.107674296C>T | CA368848283 | SLC26A4 | c.548C>T (p.Thr183Ile)
| |
7 | g.107674296_107674297delinsCA | CA1732746163 | SLC26A4 | c.548_549delinsCA (p.Thr183=)
| |
7 | g.107674297del | CA831175431 | SLC26A4 | c.549del (p.Ala184LeufsTer4)
| dbSNP gnomAD v3 gnomAD v4 |
7 | g.107674297A>C | CA457105422 | SLC26A4 | c.549A>C (p.Thr183=)
| |
7 | g.107674297A>G | CA457105423 | SLC26A4 | c.549A>G (p.Thr183=)
| gnomAD v4 |
7 | g.107674297A>T | CA457105424 | SLC26A4 | c.549A>T (p.Thr183=)
| |
7 | g.107674298G>A | CA368848286 | SLC26A4 | c.550G>A (p.Ala184Thr)
| |
7 | g.107674298G>C | CA368848289 | SLC26A4 | c.550G>C (p.Ala184Pro)
| |
7 | g.107674298G>T | CA368848288 | SLC26A4 | c.550G>T (p.Ala184Ser)
| |
7 | g.107674299C>A | CA368848292 | SLC26A4 | c.551C>A (p.Ala184Asp)
| |
7 | g.107674299C= | CA1732746171 | SLC26A4 | c.551C= (p.Ala184=)
| |
7 | g.107674299C>G | CA368848295 | SLC26A4 | c.551C>G (p.Ala184Gly)
| dbSNP gnomAD v3 gnomAD v4 |
7 | g.107674299C>T | CA368848293 | SLC26A4 | c.551C>T (p.Ala184Val)
| |
7 | g.107674300T>A | CA457105432 | SLC26A4 | c.552T>A (p.Ala184=)
| |
7 | g.107674300T>C | CA457105434 | SLC26A4 | c.552T>C (p.Ala184=)
| dbSNP |
7 | g.107674300T>G | CA457105435 | SLC26A4 | c.552T>G (p.Ala184=)
| |
7 | g.107674300T= | CA1732746175 | SLC26A4 | c.552T= (p.Ala184=)
| |
7 | g.107674301A>C | CA457105437 | SLC26A4 | c.553A>C (p.Arg185=)
| |
7 | g.107674301A>G | CA368848298 | SLC26A4 | c.553A>G (p.Arg185Gly)
| |
7 | g.107674301A>T | CA368848299 | SLC26A4 | c.553A>T (p.Arg185Ter)
| ClinVar |
7 | g.107674303_107674304del | CA2580617073 | SLC26A4 | c.555_556del (p.Arg185SerfsTer?)
| ClinVar |
7 | g.107674302G>A | CA368848301 | SLC26A4 | c.554G>A (p.Arg185Lys)
| |
7 | g.107674302G>C | CA274070 | SLC26A4 | c.554G>C (p.Arg185Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674302G= | CA1732746180 | SLC26A4 | c.554G= (p.Arg185=)
| |
7 | g.107674302G>T | CA368848304 | SLC26A4 | c.554G>T (p.Arg185Ile)
| |
7 | g.107674304_107674310del | CA2684461708 | SLC26A4 | c.556_562del (p.Val186LeufsTer5)
| ClinVar gnomAD v4 |
7 | g.107674303A= | CA1732746187 | SLC26A4 | c.555A= (p.Arg185=)
| |
7 | g.107674303A>C | CA368848306 | SLC26A4 | c.555A>C (p.Arg185Ser)
| |
7 | g.107674303A>G | CA457105444 | SLC26A4 | c.555A>G (p.Arg185=)
| |
7 | g.107674303A>T | CA368848307 | SLC26A4 | c.555A>T (p.Arg185Ser)
| dbSNP |
7 | g.107674304G>A | CA368848310 | SLC26A4 | c.556G>A (p.Val186Ile)
| |
7 | g.107674304G>C | CA368848311 | SLC26A4 | c.556G>C (p.Val186Leu)
| |
7 | g.107674304G= | CA1732746190 | SLC26A4 | c.556G= (p.Val186=)
| |
7 | g.107674304G>T | CA4432505 | SLC26A4 | c.556G>T (p.Val186Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674305T>A | CA368848313 | SLC26A4 | c.557T>A (p.Val186Asp)
| |
7 | g.107674305T>C | CA368848315 | SLC26A4 | c.557T>C (p.Val186Ala)
| |
7 | g.107674305T>G | CA368848316 | SLC26A4 | c.557T>G (p.Val186Gly)
| |
7 | g.107674306C>A | CA457105451 | SLC26A4 | c.558C>A (p.Val186=)
| |
7 | g.107674306C>G | CA457105453 | SLC26A4 | c.558C>G (p.Val186=)
| |
7 | g.107674306C>T | CA457105455 | SLC26A4 | c.558C>T (p.Val186=)
| |
7 | g.107674307C>A | CA368848317 | SLC26A4 | c.559C>A (p.Leu187Met)
| |
7 | g.107674307C>G | CA368848319 | SLC26A4 | c.559C>G (p.Leu187Val)
| |
7 | g.107674307C>T | CA457105457 | SLC26A4 | c.559C>T (p.Leu187=)
| |
7 | g.107674308T>A | CA368848321 | SLC26A4 | c.560T>A (p.Leu187Gln)
| |
7 | g.107674308T>C | CA368848324 | SLC26A4 | c.560T>C (p.Leu187Pro)
| |
7 | g.107674308T>G | CA368848323 | SLC26A4 | c.560T>G (p.Leu187Arg)
| gnomAD v4 |
7 | g.107674309G>A | CA457105461 | SLC26A4 | c.561G>A (p.Leu187=)
| |
7 | g.107674309G>C | CA457105464 | SLC26A4 | c.561G>C (p.Leu187=)
| gnomAD v4 |
7 | g.107674309G= | CA1732746198 | SLC26A4 | c.561G= (p.Leu187=)
| |
7 | g.107674309G>T | CA4432506 | SLC26A4 | c.561G>T (p.Leu187=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674310del | CA2684461736 | SLC26A4 | c.562del (p.Ile188LeufsTer5)
| gnomAD v4 |
7 | g.107674310A= | CA1732746202 | SLC26A4 | c.562A= (p.Ile188=)
| |
7 | g.107674310A>C | CA368848328 | SLC26A4 | c.562A>C (p.Ile188Leu)
| |
7 | g.107674310A>G | CA4432507 | SLC26A4 | c.562A>G (p.Ile188Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674310A>T | CA368848330 | SLC26A4 | c.562A>T (p.Ile188Phe)
| |
7 | g.107674311T>A | CA368848332 | SLC26A4 | c.563T>A (p.Ile188Asn)
| |
7 | g.107674311T>C | CA368848334 | SLC26A4 | c.563T>C (p.Ile188Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674311T>G | CA368848336 | SLC26A4 | c.563T>G (p.Ile188Ser)
| |
7 | g.107674311T= | CA1732746207 | SLC26A4 | c.563T= (p.Ile188=)
| |
7 | g.107674312dup | CA2684461743 | SLC26A4 | c.564dup (p.Ala189CysfsTer?)
| gnomAD v4 |
7 | g.107674312T>A | CA457105471 | SLC26A4 | c.564T>A (p.Ile188=)
| |
7 | g.107674312T>C | CA457105472 | SLC26A4 | c.564T>C (p.Ile188=)
| |
7 | g.107674312T>G | CA368848337 | SLC26A4 | c.564T>G (p.Ile188Met)
| |
7 | g.107674313G>A | CA4432508 | SLC26A4 | c.565G>A (p.Ala189Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674313G>C | CA368848342 | SLC26A4 | c.565G>C (p.Ala189Pro)
| |
7 | g.107674313G= | CA1732746217 | SLC26A4 | c.565G= (p.Ala189=)
| |
7 | g.107674313G>T | CA132732 | SLC26A4 | c.565G>T (p.Ala189Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674313_107674314delinsGC | CA1732746219 | SLC26A4 | c.565_566delinsGC (p.Ala189=)
| |
7 | g.107674314C>A | CA368848349 | SLC26A4 | c.566C>A (p.Ala189Asp)
| |
7 | g.107674314C= | CA1732746225 | SLC26A4 | c.566C= (p.Ala189=)
| |
7 | g.107674314C>G | CA368848347 | SLC26A4 | c.566C>G (p.Ala189Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674314C>T | CA368848346 | SLC26A4 | c.566C>T (p.Ala189Val)
| |
7 | g.107674315del | CA1105627796 | SLC26A4 | c.567del (p.Ser190ValfsTer3)
| ClinVar dbSNP |
7 | g.107674315C>A | CA457105481 | SLC26A4 | c.567C>A (p.Ala189=)
| |
7 | g.107674315C= | CA1732746229 | SLC26A4 | c.567C= (p.Ala189=)
| |
7 | g.107674315C>G | CA457105485 | SLC26A4 | c.567C>G (p.Ala189=)
| ClinVar dbSNP |
7 | g.107674315C>T | CA457105483 | SLC26A4 | c.567C>T (p.Ala189=)
| |
7 | g.107674316A= | CA1732746232 | SLC26A4 | c.568A= (p.Ser190=)
| |
7 | g.107674316A>C | CA368848353 | SLC26A4 | c.568A>C (p.Ser190Arg)
| |
7 | g.107674316A>G | CA368848351 | SLC26A4 | c.568A>G (p.Ser190Gly)
| gnomAD v4 COSMIC |
7 | g.107674316A>T | CA4432509 | SLC26A4 | c.568A>T (p.Ser190Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674317G>A | CA368848355 | SLC26A4 | c.569G>A (p.Ser190Asn)
| dbSNP gnomAD v3 gnomAD v4 |
7 | g.107674317G>C | CA368848357 | SLC26A4 | c.569G>C (p.Ser190Thr)
| |
7 | g.107674317G= | CA1732746234 | SLC26A4 | c.569G= (p.Ser190=)
| |
7 | g.107674317G>T | CA368848358 | SLC26A4 | c.569G>T (p.Ser190Ile)
| |
7 | g.107674318T>A | CA368848361 | SLC26A4 | c.570T>A (p.Ser190Arg)
| |
7 | g.107674318T>C | CA457105493 | SLC26A4 | c.570T>C (p.Ser190=)
| |
7 | g.107674318T>G | CA368848362 | SLC26A4 | c.570T>G (p.Ser190Arg)
| |
7 | g.107674319G>A | CA368848364 | SLC26A4 | c.571G>A (p.Ala191Thr)
| gnomAD v4 |
7 | g.107674319G>C | CA368848365 | SLC26A4 | c.571G>C (p.Ala191Pro)
| |
7 | g.107674319G>T | CA368848367 | SLC26A4 | c.571G>T (p.Ala191Ser)
| |
7 | g.107674320C>A | CA368848369 | SLC26A4 | c.572C>A (p.Ala191Asp)
| |
7 | g.107674320C= | CA1732746241 | SLC26A4 | c.572C= (p.Ala191=)
| |
7 | g.107674320C>G | CA368848371 | SLC26A4 | c.572C>G (p.Ala191Gly)
| dbSNP |
7 | g.107674320C>T | CA132734 | SLC26A4 | c.572C>T (p.Ala191Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674322del | CA2695199610 | SLC26A4 | c.574del (p.Leu192Ter)
| ClinVar |
7 | g.107674321C>A | CA457105501 | SLC26A4 | c.573C>A (p.Ala191=)
| |
7 | g.107674321C>G | CA457105503 | SLC26A4 | c.573C>G (p.Ala191=)
| gnomAD v4 |
7 | g.107674321C>T | CA457105505 | SLC26A4 | c.573C>T (p.Ala191=)
| |
7 | g.107674322C>A | CA368848376 | SLC26A4 | c.574C>A (p.Leu192Met)
| |
7 | g.107674322C= | CA1732746247 | SLC26A4 | c.574C= (p.Leu192=)
| |
7 | g.107674322C>G | CA368848374 | SLC26A4 | c.574C>G (p.Leu192Val)
| |
7 | g.107674322C>T | CA4432510 | SLC26A4 | c.574C>T (p.Leu192=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674323T>A | CA368848378 | SLC26A4 | c.575T>A (p.Leu192Gln)
| |
7 | g.107674323T>C | CA368848380 | SLC26A4 | c.575T>C (p.Leu192Pro)
| |
7 | g.107674323T>G | CA368848382 | SLC26A4 | c.575T>G (p.Leu192Arg)
| |
7 | g.107674324G>A | CA4432511 | SLC26A4 | c.576G>A (p.Leu192=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674324G>C | CA457105512 | SLC26A4 | c.576G>C (p.Leu192=)
| |
7 | g.107674324G= | CA1732746250 | SLC26A4 | c.576G= (p.Leu192=)
| |
7 | g.107674324G>T | CA457105514 | SLC26A4 | c.576G>T (p.Leu192=)
| |
7 | g.107674325A>C | CA368848385 | SLC26A4 | c.577A>C (p.Thr193Pro)
| |
7 | g.107674325A>G | CA368848386 | SLC26A4 | c.577A>G (p.Thr193Ala)
| |
7 | g.107674325A>T | CA368848387 | SLC26A4 | c.577A>T (p.Thr193Ser)
| |
7 | g.107674326C>A | CA368848389 | SLC26A4 | c.578C>A (p.Thr193Asn)
| |
7 | g.107674326C= | CA1732746254 | SLC26A4 | c.578C= (p.Thr193=)
| |
7 | g.107674326C>G | CA368848391 | SLC26A4 | c.578C>G (p.Thr193Ser)
| |
7 | g.107674326C>T | CA253310 | SLC26A4 | c.578C>T (p.Thr193Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674327T>A | CA457105521 | SLC26A4 | c.579T>A (p.Thr193=)
| dbSNP |
7 | g.107674327T>C | CA457105523 | SLC26A4 | c.579T>C (p.Thr193=)
| |
7 | g.107674327T>G | CA457105525 | SLC26A4 | c.579T>G (p.Thr193=)
| |
7 | g.107674327T= | CA1732746260 | SLC26A4 | c.579T= (p.Thr193=)
| |
7 | g.107674328C>A | CA368848393 | SLC26A4 | c.580C>A (p.Leu194Met)
| dbSNP gnomAD v3 gnomAD v4 |
7 | g.107674328C= | CA1732746265 | SLC26A4 | c.580C= (p.Leu194=)
| |
7 | g.107674328C>G | CA368848395 | SLC26A4 | c.580C>G (p.Leu194Val)
| dbSNP |
7 | g.107674328C>T | CA457105528 | SLC26A4 | c.580C>T (p.Leu194=)
| COSMIC |
7 | g.107674329T>A | CA368848399 | SLC26A4 | c.581T>A (p.Leu194Gln)
| |
7 | g.107674329T>C | CA368848401 | SLC26A4 | c.581T>C (p.Leu194Pro)
| gnomAD v4 |
7 | g.107674329T>G | CA368848397 | SLC26A4 | c.581T>G (p.Leu194Arg)
| |
7 | g.107674330G>A | CA457105532 | SLC26A4 | c.582G>A (p.Leu194=)
| ClinVar dbSNP |
7 | g.107674330G>C | CA457105535 | SLC26A4 | c.582G>C (p.Leu194=)
| |
7 | g.107674330G= | CA1732746269 | SLC26A4 | c.582G= (p.Leu194=)
| |
7 | g.107674330G>T | CA457105534 | SLC26A4 | c.582G>T (p.Leu194=)
| |
7 | g.107674331C>A | CA368848402 | SLC26A4 | c.583C>A (p.Leu195Met)
| |
7 | g.107674331C>G | CA368848404 | SLC26A4 | c.583C>G (p.Leu195Val)
| gnomAD v4 |
7 | g.107674331C>T | CA457105538 | SLC26A4 | c.583C>T (p.Leu195=)
| |
7 | g.107674332del | CA2697557483 | SLC26A4 | c.584del (p.Leu195ArgfsTer7)
| ClinVar |
7 | g.107674332T>A | CA368848406 | SLC26A4 | c.584T>A (p.Leu195Gln)
| |
7 | g.107674332T>C | CA368848408 | SLC26A4 | c.584T>C (p.Leu195Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.107674332T>G | CA368848410 | SLC26A4 | c.584T>G (p.Leu195Arg)
| |
7 | g.107674332T= | CA1732746273 | SLC26A4 | c.584T= (p.Leu195=)
| |
7 | g.107674333G>A | CA457105543 | SLC26A4 | c.585G>A (p.Leu195=)
| gnomAD v4 |
7 | g.107674333G>C | CA457105545 | SLC26A4 | c.585G>C (p.Leu195=)
| |
7 | g.107674333G>T | CA457105547 | SLC26A4 | c.585G>T (p.Leu195=)
| |
7 | g.107674334G>A | CA368848411 | SLC26A4 | c.586G>A (p.Val196Ile)
| gnomAD v4 |
7 | g.107674334G>C | CA368848412 | SLC26A4 | c.586G>C (p.Val196Leu)
| gnomAD v4 |
7 | g.107674334G= | CA1732746276 | SLC26A4 | c.586G= (p.Val196=)
| |
7 | g.107674334G>T | CA368848414 | SLC26A4 | c.586G>T (p.Val196Phe)
| dbSNP gnomAD v4 |
7 | g.107674335T>A | CA368848416 | SLC26A4 | c.587T>A (p.Val196Asp)
| ClinVar dbSNP gnomAD v4 |
7 | g.107674335T>C | CA4432512 | SLC26A4 | c.587T>C (p.Val196Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.107674335T>G | CA368848419 | SLC26A4 | c.587T>G (p.Val196Gly)
| |
7 | g.107674335T= | CA1732746277 | SLC26A4 | c.587T= (p.Val196=)
| |
7 | g.107674336T>A | CA457105552 | SLC26A4 | c.588T>A (p.Val196=)
| |
7 | g.107674336T>C | CA457105556 | SLC26A4 | c.588T>C (p.Val196=)
| |
7 | g.107674336T>G | CA457105554 | SLC26A4 | c.588T>G (p.Val196=)
| |
7 | g.107674337G>A | CA261433 | SLC26A4 | c.589G>A (p.Gly197Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674337G>C | CA368848421 | SLC26A4 | c.589G>C (p.Gly197Arg)
| |
7 | g.107674337G= | CA1732746283 | SLC26A4 | c.589G= (p.Gly197=)
| |
7 | g.107674337G>T | CA368848422 | SLC26A4 | c.589G>T (p.Gly197Ter)
| ClinVar dbSNP |
7 | g.107674338G>A | CA368848425 | SLC26A4 | c.590G>A (p.Gly197Glu)
| ClinVar dbSNP |
7 | g.107674338G>C | CA368848428 | SLC26A4 | c.590G>C (p.Gly197Ala)
| |
7 | g.107674338G= | CA1732746291 | SLC26A4 | c.590G= (p.Gly197=)
| |
7 | g.107674338G>T | CA368848426 | SLC26A4 | c.590G>T (p.Gly197Val)
| |
7 | g.107674341_107674356del | CA2573052785 | SLC26A4 | c.593_600+8del
| ClinVar dbSNP |
7 | g.107674339A>C | CA457105563 | SLC26A4 | c.591A>C (p.Gly197=)
| |
7 | g.107674339A>G | CA457105564 | SLC26A4 | c.591A>G (p.Gly197=)
| |
7 | g.107674339A>T | CA457105565 | SLC26A4 | c.591A>T (p.Gly197=)
| |
7 | g.107674340A>C | CA368848430 | SLC26A4 | c.592A>C (p.Ile198Leu)
| |
7 | g.107674340A>G | CA368848432 | SLC26A4 | c.592A>G (p.Ile198Val)
| |
7 | g.107674340A>T | CA368848434 | SLC26A4 | c.592A>T (p.Ile198Phe)
| COSMIC |
7 | g.107674341T>A | CA368848435 | SLC26A4 | c.593T>A (p.Ile198Asn)
| |
7 | g.107674341T>C | CA368848437 | SLC26A4 | c.593T>C (p.Ile198Thr)
| dbSNP |
7 | g.107674341T>G | CA368848439 | SLC26A4 | c.593T>G (p.Ile198Ser)
| |
7 | g.107674341T= | CA1732746294 | SLC26A4 | c.593T= (p.Ile198=)
| |
7 | g.107674342T>A | CA457105572 | SLC26A4 | c.594T>A (p.Ile198=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674342T>C | CA457105574 | SLC26A4 | c.594T>C (p.Ile198=)
| ClinVar dbSNP gnomAD v4 |
7 | g.107674342T>G | CA368848440 | SLC26A4 | c.594T>G (p.Ile198Met)
| |
7 | g.107674342T= | CA1732746298 | SLC26A4 | c.594T= (p.Ile198=)
| |
7 | g.107674343A>C | CA368848442 | SLC26A4 | c.595A>C (p.Ile199Leu)
| |
7 | g.107674343A>G | CA368848443 | SLC26A4 | c.595A>G (p.Ile199Val)
| |
7 | g.107674343A>T | CA368848445 | SLC26A4 | c.595A>T (p.Ile199Leu)
| |
7 | g.107674344T>A | CA368848448 | SLC26A4 | c.596T>A (p.Ile199Lys)
| |
7 | g.107674344T>C | CA4432513 | SLC26A4 | c.596T>C (p.Ile199Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674344T>G | CA368848446 | SLC26A4 | c.596T>G (p.Ile199Arg)
| |
7 | g.107674344T= | CA1732746301 | SLC26A4 | c.596T= (p.Ile199=)
| |
7 | g.107674345A= | CA1732746307 | SLC26A4 | c.597A= (p.Ile199=)
| |
7 | g.107674345A>C | CA457105584 | SLC26A4 | c.597A>C (p.Ile199=)
| |
7 | g.107674345A>G | CA164216421 | SLC26A4 | c.597A>G (p.Ile199Met)
| dbSNP gnomAD v4 |
7 | g.107674345A>T | CA457105583 | SLC26A4 | c.597A>T (p.Ile199=)
| |
7 | g.107674346C>A | CA368848452 | SLC26A4 | c.598C>A (p.Gln200Lys)
| gnomAD v4 |
7 | g.107674346C>G | CA368848453 | SLC26A4 | c.598C>G (p.Gln200Glu)
| |
7 | g.107674346C>T | CA368848455 | SLC26A4 | c.598C>T (p.Gln200Ter)
| ClinVar gnomAD v4 COSMIC |
7 | g.107674346_107674347delinsCA | CA1732746314 | SLC26A4 | c.598_599delinsCA (p.Gln200=)
| |
7 | g.107674347del | CA831175502 | SLC26A4 | c.599del (p.Gln200ArgfsTer2)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.107674347A>C | CA368848458 | SLC26A4 | c.599A>C (p.Gln200Pro)
| |
7 | g.107674347A>G | CA368848459 | SLC26A4 | c.599A>G (p.Gln200Arg)
| gnomAD v4 |
7 | g.107674347A>T | CA368848461 | SLC26A4 | c.599A>T (p.Gln200Leu)
| |
7 | g.107674348G>A | CA457105590 | SLC26A4 | c.600G>A (p.Gln200=)
| gnomAD v4 |
7 | g.107674348G>C | CA368848462 | SLC26A4 | c.600G>C (p.Gln200His)
| |
7 | g.107674348G>T | CA368848464 | SLC26A4 | c.600G>T (p.Gln200His)
| |
7 | g.107674349G>A | CA368848466 | SLC26A4 | c.600+1G>A (n.600+1G>A)
| |
7 | g.107674349G>C | CA368848468 | SLC26A4 | c.600+1G>C (n.600+1G>C)
| |
7 | g.107674349G= | CA1732746318 | SLC26A4 | c.600+1G= (n.600+1G=)
| |
7 | g.107674349G>T | CA4432514 | SLC26A4 | c.600+1G>T (n.600+1G>T)
| dbSNP ExAC gnomAD v2 |
7 | g.107674350T>A | CA16041103 | SLC26A4 | c.600+2T>A (n.600+2T>A)
| ClinVar dbSNP |
7 | g.107674350T>C | CA368848470 | SLC26A4 | c.600+2T>C (n.600+2T>C)
| ClinVar dbSNP |
7 | g.107674350T>G | CA368848472 | SLC26A4 | c.600+2T>G (n.600+2T>G)
| |
7 | g.107674350T= | CA1732746321 | SLC26A4 | c.600+2T= (n.600+2T=)
| |
7 | g.107674351_107674353del | CA2777355087 | SLC26A4 | c.600+3_600+5del (n.600+3_600+5del)
| |
7 | g.107674351A= | CA1732746330 | SLC26A4 | c.600+3A= (n.600+3A=)
| |
7 | g.107674351A>G | CA4432515 | SLC26A4 | c.600+3A>G (n.600+3A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674351_107674352insG | CA577198880 | SLC26A4 | c.600+3_600+4insG (n.600+3_600+4insG)
| dbSNP gnomAD v2 |
7 | g.107674353T>C | CA577025710 | SLC26A4 | c.600+5T>C (n.600+5T>C)
| dbSNP gnomAD v2 |
7 | g.107674353T>G | CA4432516 | SLC26A4 | c.600+5T>G (n.600+5T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674353T= | CA1732746336 | SLC26A4 | c.600+5T= (n.600+5T=)
| |
7 | g.107674353_107674354insATTTGGTGGCTTGCAGATTG | CA2715529278 | SLC26A4 | c.600+5_600+6insATTTGGTGGCTTGCAGATTG (n.600+5_600+6insATTTGGTGGCTTGCAGATTG)
| dbSNP |
7 | g.107674354G>A | CA1732746339 | SLC26A4 | c.600+6G>A (n.600+6G>A)
| dbSNP gnomAD v4 |
7 | g.107674354G= | CA1732746338 | SLC26A4 | c.600+6G= (n.600+6G=)
| |
7 | g.107674354G>T | CA2684461942 | SLC26A4 | c.600+6G>T (n.600+6G>T)
| gnomAD v4 |
7 | g.107674355A= | CA1732746341 | SLC26A4 | c.600+7A= (n.600+7A=)
| |
7 | g.107674355A>G | CA164199540 | SLC26A4 | c.600+7A>G (n.600+7A>G)
| dbSNP gnomAD v4 |
7 | g.107674357C>A | CA2578988851 | SLC26A4 | c.600+9C>A (n.600+9C>A)
| gnomAD v4 |
7 | g.107674358T>G | CA1732746344 | SLC26A4 | c.600+10T>G (n.600+10T>G)
| ClinVar dbSNP gnomAD v4 |
7 | g.107674358T= | CA1732746343 | SLC26A4 | c.600+10T= (n.600+10T=)
| |
7 | g.107674360A= | CA1732746346 | SLC26A4 | c.600+12A= (n.600+12A=)
| |
7 | g.107674360A>T | CA4432517 | SLC26A4 | c.600+12A>T (n.600+12A>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674361C>A | CA2684461953 | SLC26A4 | c.600+13C>A (n.600+13C>A)
| gnomAD v4 |
7 | g.107674361C= | CA1732746348 | SLC26A4 | c.600+13C= (n.600+13C=)
| |
7 | g.107674361C>T | CA164199572 | SLC26A4 | c.600+13C>T (n.600+13C>T)
| dbSNP gnomAD v4 |
7 | g.107674362A>C | CA2684461957 | SLC26A4 | c.600+14A>C (n.600+14A>C)
| gnomAD v4 |
7 | g.107674362A>G | CA2684461958 | SLC26A4 | c.600+14A>G (n.600+14A>G)
| gnomAD v4 |
7 | g.107674364G>A | CA2684461959 | SLC26A4 | c.600+16G>A (n.600+16G>A)
| gnomAD v4 |
7 | g.107674365T>A | CA2578988852 | SLC26A4 | c.600+17T>A (n.600+17T>A)
| |
7 | g.107674366A>T | CA2684461960 | SLC26A4 | c.600+18A>T (n.600+18A>T)
| gnomAD v4 |
7 | g.107674367A>G | CA2684461963 | SLC26A4 | c.600+19A>G (n.600+19A>G)
| gnomAD v4 |
7 | g.107674368A>G | CA2684461967 | SLC26A4 | c.600+20A>G (n.600+20A>G)
| gnomAD v4 |
7 | g.107674369A= | CA1732746350 | SLC26A4 | c.600+21A= (n.600+21A=)
| |
7 | g.107674369A>T | CA4432518 | SLC26A4 | c.600+21A>T (n.600+21A>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674369_107674372delinsATAT | CA1732746354 | SLC26A4 | c.600+21_600+24delinsATAT (n.600+21_600+24delinsATAT)
| |
7 | g.107674370T>C | CA2514109471 | SLC26A4 | c.600+22T>C (n.600+22T>C)
| gnomAD v4 |
7 | g.107674370_107674372del | CA4432519 | SLC26A4 | c.600+22_600+24del (n.600+22_600+24del)
| dbSNP ExAC gnomAD v2 |
7 | g.107674371A= | CA1732746358 | SLC26A4 | c.600+23A= (n.600+23A=)
| |
7 | g.107674371A>G | CA4432520 | SLC26A4 | c.600+23A>G (n.600+23A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674371_107674373del | CA368830766 | SLC26A4 | c.600+23_600+25del (n.600+23_600+25del)
| |
7 | g.107674372T>C | CA4432521 | SLC26A4 | c.600+24T>C (n.600+24T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674372T= | CA1732746360 | SLC26A4 | c.600+24T= (n.600+24T=)
| |
7 | g.107674373A= | CA1732746361 | SLC26A4 | c.600+25A= (n.600+25A=)
| |
7 | g.107674373A>G | CA4432522 | SLC26A4 | c.600+25A>G (n.600+25A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.107674375A= | CA1732746363 | SLC26A4 | c.600+27A= (n.600+27A=)
| |
7 | g.107674375A>G | CA577025734 | SLC26A4 | c.600+27A>G (n.600+27A>G)
| dbSNP gnomAD v2 gnomAD v4 |
7 | g.107674376T>C | CA4432523 | SLC26A4 | c.600+28T>C (n.600+28T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674376T= | CA1732746366 | SLC26A4 | c.600+28T= (n.600+28T=)
| |
7 | g.107674377G>A | CA2684461992 | SLC26A4 | c.600+29G>A (n.600+29G>A)
| gnomAD v4 |
7 | g.107674378G>A | CA2777355092 | SLC26A4 | c.600+30G>A (n.600+30G>A)
| |
7 | g.107674379A= | CA1732746369 | SLC26A4 | c.600+31A= (n.600+31A=)
| |
7 | g.107674379A>G | CA4432524 | SLC26A4 | c.600+31A>G (n.600+31A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674379A>T | CA2578988853 | SLC26A4 | c.600+31A>T (n.600+31A>T)
| |
7 | g.107674380T>A | CA831175531 | SLC26A4 | c.600+32T>A (n.600+32T>A)
| dbSNP gnomAD v3 gnomAD v4 |
7 | g.107674380T>C | CA2684462011 | SLC26A4 | c.600+32T>C (n.600+32T>C)
| gnomAD v4 |
7 | g.107674380T= | CA1732746373 | SLC26A4 | c.600+32T= (n.600+32T=)
| |
7 | g.107674381G>A | CA577025740 | SLC26A4 | c.600+33G>A (n.600+33G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674381G= | CA1732746376 | SLC26A4 | c.600+33G= (n.600+33G=)
| |
7 | g.107674381G>T | CA2578988854 | SLC26A4 | c.600+33G>T (n.600+33G>T)
| |
7 | g.107674382T>A | CA577025742 | SLC26A4 | c.600+34T>A (n.600+34T>A)
| dbSNP gnomAD v2 gnomAD v4 |
7 | g.107674382T>C | CA2684462047 | SLC26A4 | c.600+34T>C (n.600+34T>C)
| gnomAD v4 |
7 | g.107674382T= | CA1732746379 | SLC26A4 | c.600+34T= (n.600+34T=)
| |
7 | g.107674384_107674390del | CA2684462041 | SLC26A4 | c.600+36_600+42del (n.600+36_600+42del)
| gnomAD v4 |
7 | g.107674383A>G | CA2684462068 | SLC26A4 | c.600+35A>G (n.600+35A>G)
| gnomAD v4 |
7 | g.107674389del | CA2578988855 | SLC26A4 | c.600+41del (n.600+41del)
| gnomAD v4 |
7 | g.107674386T>C | CA4432525 | SLC26A4 | c.600+38T>C (n.600+38T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107674386T= | CA1732746381 | SLC26A4 | c.600+38T= (n.600+38T=)
| |