Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.21710605G>A | CA366940197 | DNAH11 | c.6736G>A (p.Ala2246Thr) c.6757G>A (p.Ala2253Thr) | |
7 | g.21710605G>C | CA366940199 | DNAH11 | c.6736G>C (p.Ala2246Pro) c.6757G>C (p.Ala2253Pro) | ClinVar dbSNP |
7 | g.21710605G= | CA1693636459 | DNAH11 | c.6736G= (p.Ala2246=) c.6757G= (p.Ala2253=) | |
7 | g.21710605G>T | CA366940201 | DNAH11 | c.6736G>T (p.Ala2246Ser) c.6757G>T (p.Ala2253Ser) | |
7 | g.21710606C>A | CA4180972 | DNAH11 | c.6737C>A (p.Ala2246Glu) c.6758C>A (p.Ala2253Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710606C= | CA1693636465 | DNAH11 | c.6737C= (p.Ala2246=) c.6758C= (p.Ala2253=) | |
7 | g.21710606C>G | CA366940204 | DNAH11 | c.6737C>G (p.Ala2246Gly) c.6758C>G (p.Ala2253Gly) | |
7 | g.21710606C>T | CA366940207 | DNAH11 | c.6737C>T (p.Ala2246Val) c.6758C>T (p.Ala2253Val) | |
7 | g.21710607A= | CA1693636471 | DNAH11 | c.6738A= (p.Ala2246=) c.6759A= (p.Ala2253=) | |
7 | g.21710607A>C | CA453965464 | DNAH11 | c.6738A>C (p.Ala2246=) c.6759A>C (p.Ala2253=) | |
7 | g.21710607A>G | CA453965465 | DNAH11 | c.6738A>G (p.Ala2246=) c.6759A>G (p.Ala2253=) | |
7 | g.21710607A>T | CA453965466 | DNAH11 | c.6738A>T (p.Ala2246=) c.6759A>T (p.Ala2253=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710608A>C | CA366940214 | DNAH11 | c.6739A>C (p.Asn2247His) c.6760A>C (p.Asn2254His) | COSMIC COSMIC |
7 | g.21710608A>G | CA366940216 | DNAH11 | c.6739A>G (p.Asn2247Asp) c.6760A>G (p.Asn2254Asp) | |
7 | g.21710608A>T | CA366940218 | DNAH11 | c.6739A>T (p.Asn2247Tyr) c.6760A>T (p.Asn2254Tyr) | gnomAD v4 |
7 | g.21710609A= | CA1693636474 | DNAH11 | c.6740A= (p.Asn2247=) c.6761A= (p.Asn2254=) | |
7 | g.21710609A>C | CA366940222 | DNAH11 | c.6740A>C (p.Asn2247Thr) c.6761A>C (p.Asn2254Thr) | |
7 | g.21710609A>G | CA366940225 | DNAH11 | c.6740A>G (p.Asn2247Ser) c.6761A>G (p.Asn2254Ser) | dbSNP |
7 | g.21710609A>T | CA366940228 | DNAH11 | c.6740A>T (p.Asn2247Ile) c.6761A>T (p.Asn2254Ile) | |
7 | g.21710610T>A | CA366940231 | DNAH11 | c.6741T>A (p.Asn2247Lys) c.6762T>A (p.Asn2254Lys) | |
7 | g.21710610T>C | CA453965467 | DNAH11 | c.6741T>C (p.Asn2247=) c.6762T>C (p.Asn2254=) | |
7 | g.21710610T>G | CA366940234 | DNAH11 | c.6741T>G (p.Asn2247Lys) c.6762T>G (p.Asn2254Lys) | |
7 | g.21710611C>A | CA366940237 | DNAH11 | c.6742C>A (p.Leu2248Ile) c.6763C>A (p.Leu2255Ile) | |
7 | g.21710611C= | CA1693636480 | DNAH11 | c.6742C= (p.Leu2248=) c.6763C= (p.Leu2255=) | |
7 | g.21710611C>G | CA366940240 | DNAH11 | c.6742C>G (p.Leu2248Val) c.6763C>G (p.Leu2255Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710611C>T | CA366940243 | DNAH11 | c.6742C>T (p.Leu2248Phe) c.6763C>T (p.Leu2255Phe) | |
7 | g.21710612T>A | CA366940250 | DNAH11 | c.6743T>A (p.Leu2248His) c.6764T>A (p.Leu2255His) | |
7 | g.21710612T>C | CA366940252 | DNAH11 | c.6743T>C (p.Leu2248Pro) c.6764T>C (p.Leu2255Pro) | |
7 | g.21710612T>G | CA155081484 | DNAH11 | c.6743T>G (p.Leu2248Arg) c.6764T>G (p.Leu2255Arg) | dbSNP |
7 | g.21710612T= | CA1693636484 | DNAH11 | c.6743T= (p.Leu2248=) c.6764T= (p.Leu2255=) | |
7 | g.21710613T>A | CA453965468 | DNAH11 | c.6744T>A (p.Leu2248=) c.6765T>A (p.Leu2255=) | |
7 | g.21710613T>C | CA453965469 | DNAH11 | c.6744T>C (p.Leu2248=) c.6765T>C (p.Leu2255=) | |
7 | g.21710613T>G | CA453965470 | DNAH11 | c.6744T>G (p.Leu2248=) c.6765T>G (p.Leu2255=) | |
7 | g.21710614A>C | CA366940257 | DNAH11 | c.6745A>C (p.Lys2249Gln) c.6766A>C (p.Lys2256Gln) | |
7 | g.21710614A>G | CA366940262 | DNAH11 | c.6745A>G (p.Lys2249Glu) c.6766A>G (p.Lys2256Glu) | |
7 | g.21710614A>T | CA366940265 | DNAH11 | c.6745A>T (p.Lys2249Ter) c.6766A>T (p.Lys2256Ter) | |
7 | g.21710615A>C | CA366940269 | DNAH11 | c.6746A>C (p.Lys2249Thr) c.6767A>C (p.Lys2256Thr) | |
7 | g.21710615A>G | CA366940272 | DNAH11 | c.6746A>G (p.Lys2249Arg) c.6767A>G (p.Lys2256Arg) | |
7 | g.21710615A>T | CA366940276 | DNAH11 | c.6746A>T (p.Lys2249Met) c.6767A>T (p.Lys2256Met) | |
7 | g.21710616G>A | CA453965473 | DNAH11 | c.6747G>A (p.Lys2249=) c.6768G>A (p.Lys2256=) | COSMIC COSMIC |
7 | g.21710616G>C | CA4180973 | DNAH11 | c.6747G>C (p.Lys2249Asn) c.6768G>C (p.Lys2256Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710616G= | CA1693636488 | DNAH11 | c.6747G= (p.Lys2249=) c.6768G= (p.Lys2256=) | |
7 | g.21710616G>T | CA366940284 | DNAH11 | c.6747G>T (p.Lys2249Asn) c.6768G>T (p.Lys2256Asn) | |
7 | g.21710617C>A | CA366940287 | DNAH11 | c.6748C>A (p.His2250Asn) c.6769C>A (p.His2257Asn) | COSMIC COSMIC |
7 | g.21710617C= | CA1693636495 | DNAH11 | c.6748C= (p.His2250=) c.6769C= (p.His2257=) | |
7 | g.21710617C>G | CA366940289 | DNAH11 | c.6748C>G (p.His2250Asp) c.6769C>G (p.His2257Asp) | |
7 | g.21710617C>T | CA366940293 | DNAH11 | c.6748C>T (p.His2250Tyr) c.6769C>T (p.His2257Tyr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710618A= | CA1693636499 | DNAH11 | c.6749A= (p.His2250=) c.6770A= (p.His2257=) | |
7 | g.21710618A>C | CA366940298 | DNAH11 | c.6749A>C (p.His2250Pro) c.6770A>C (p.His2257Pro) | |
7 | g.21710618A>G | CA155081496 | DNAH11 | c.6749A>G (p.His2250Arg) c.6770A>G (p.His2257Arg) | dbSNP gnomAD v4 |
7 | g.21710618A>T | CA366940304 | DNAH11 | c.6749A>T (p.His2250Leu) c.6770A>T (p.His2257Leu) | gnomAD v4 |
7 | g.21710619T>A | CA366940307 | DNAH11 | c.6750T>A (p.His2250Gln) c.6771T>A (p.His2257Gln) | |
7 | g.21710619T>C | CA453965475 | DNAH11 | c.6750T>C (p.His2250=) c.6771T>C (p.His2257=) | |
7 | g.21710619T>G | CA366940311 | DNAH11 | c.6750T>G (p.His2250Gln) c.6771T>G (p.His2257Gln) | |
7 | g.21710620G>A | CA366940316 | DNAH11 | c.6751G>A (p.Asp2251Asn) c.6772G>A (p.Asp2258Asn) | |
7 | g.21710620G>C | CA366940331 | DNAH11 | c.6751G>C (p.Asp2251His) c.6772G>C (p.Asp2258His) | dbSNP |
7 | g.21710620G= | CA1693636504 | DNAH11 | c.6751G= (p.Asp2251=) c.6772G= (p.Asp2258=) | |
7 | g.21710620G>T | CA366940333 | DNAH11 | c.6751G>T (p.Asp2251Tyr) c.6772G>T (p.Asp2258Tyr) | |
7 | g.21710621A= | CA1693636510 | DNAH11 | c.6752A= (p.Asp2251=) c.6773A= (p.Asp2258=) | |
7 | g.21710621A>C | CA366940337 | DNAH11 | c.6752A>C (p.Asp2251Ala) c.6773A>C (p.Asp2258Ala) | |
7 | g.21710621A>G | CA366940339 | DNAH11 | c.6752A>G (p.Asp2251Gly) c.6773A>G (p.Asp2258Gly) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710621A>T | CA4180974 | DNAH11 | c.6752A>T (p.Asp2251Val) c.6773A>T (p.Asp2258Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710622T>A | CA366940343 | DNAH11 | c.6753T>A (p.Asp2251Glu) c.6774T>A (p.Asp2258Glu) | |
7 | g.21710622T>C | CA4180975 | DNAH11 | c.6753T>C (p.Asp2251=) c.6774T>C (p.Asp2258=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710622T>G | CA366940349 | DNAH11 | c.6753T>G (p.Asp2251Glu) c.6774T>G (p.Asp2258Glu) | |
7 | g.21710622T= | CA1693636517 | DNAH11 | c.6753T= (p.Asp2251=) c.6774T= (p.Asp2258=) | |
7 | g.21710623G>A | CA366940353 | DNAH11 | c.6754G>A (p.Gly2252Arg) c.6775G>A (p.Gly2259Arg) | |
7 | g.21710623G>C | CA366940354 | DNAH11 | c.6754G>C (p.Gly2252Arg) c.6775G>C (p.Gly2259Arg) | |
7 | g.21710623G>T | CA366940355 | DNAH11 | c.6754G>T (p.Gly2252Ter) c.6775G>T (p.Gly2259Ter) | |
7 | g.21710624G>A | CA366940360 | DNAH11 | c.6755G>A (p.Gly2252Glu) c.6776G>A (p.Gly2259Glu) | gnomAD v4 |
7 | g.21710624G>C | CA366940357 | DNAH11 | c.6755G>C (p.Gly2252Ala) c.6776G>C (p.Gly2259Ala) | |
7 | g.21710624G>T | CA366940356 | DNAH11 | c.6755G>T (p.Gly2252Val) c.6776G>T (p.Gly2259Val) | gnomAD v4 |
7 | g.21710625A>C | CA453965478 | DNAH11 | c.6756A>C (p.Gly2252=) c.6777A>C (p.Gly2259=) | |
7 | g.21710625A>G | CA453965480 | DNAH11 | c.6756A>G (p.Gly2252=) c.6777A>G (p.Gly2259=) | |
7 | g.21710625A>T | CA453965479 | DNAH11 | c.6756A>T (p.Gly2252=) c.6777A>T (p.Gly2259=) | |
7 | g.21710626C>A | CA366940363 | DNAH11 | c.6757C>A (p.Pro2253Thr) c.6778C>A (p.Pro2260Thr) | gnomAD v4 COSMIC COSMIC |
7 | g.21710626C>G | CA366940372 | DNAH11 | c.6757C>G (p.Pro2253Ala) c.6778C>G (p.Pro2260Ala) | |
7 | g.21710626C>T | CA366940368 | DNAH11 | c.6757C>T (p.Pro2253Ser) c.6778C>T (p.Pro2260Ser) | |
7 | g.21710627dup | CA2681984678 | DNAH11 | c.6758dup (p.Trp2255MetfsTer9) c.6779dup (p.Trp2262MetfsTer9) | gnomAD v4 |
7 | g.21710627C>A | CA366940376 | DNAH11 | c.6758C>A (p.Pro2253Gln) c.6779C>A (p.Pro2260Gln) | dbSNP gnomAD v4 COSMIC COSMIC |
7 | g.21710627C= | CA1693636520 | DNAH11 | c.6758C= (p.Pro2253=) c.6779C= (p.Pro2260=) | |
7 | g.21710627C>G | CA366940380 | DNAH11 | c.6758C>G (p.Pro2253Arg) c.6779C>G (p.Pro2260Arg) | |
7 | g.21710627C>T | CA366940389 | DNAH11 | c.6758C>T (p.Pro2253Leu) c.6779C>T (p.Pro2260Leu) | |
7 | g.21710628A>C | CA453965482 | DNAH11 | c.6759A>C (p.Pro2253=) c.6780A>C (p.Pro2260=) | |
7 | g.21710628A>G | CA453965483 | DNAH11 | c.6759A>G (p.Pro2253=) c.6780A>G (p.Pro2260=) | |
7 | g.21710628A>T | CA453965485 | DNAH11 | c.6759A>T (p.Pro2253=) c.6780A>T (p.Pro2260=) | |
7 | g.21710629A>C | CA366940393 | DNAH11 | c.6760A>C (p.Lys2254Gln) c.6781A>C (p.Lys2261Gln) | |
7 | g.21710629A>G | CA366940396 | DNAH11 | c.6760A>G (p.Lys2254Glu) c.6781A>G (p.Lys2261Glu) | |
7 | g.21710629A>T | CA366940399 | DNAH11 | c.6760A>T (p.Lys2254Ter) c.6781A>T (p.Lys2261Ter) | |
7 | g.21710630A= | CA1693636523 | DNAH11 | c.6761A= (p.Lys2254=) c.6782A= (p.Lys2261=) | |
7 | g.21710630A>C | CA366940404 | DNAH11 | c.6761A>C (p.Lys2254Thr) c.6782A>C (p.Lys2261Thr) | |
7 | g.21710630A>G | CA366940405 | DNAH11 | c.6761A>G (p.Lys2254Arg) c.6782A>G (p.Lys2261Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710630A>T | CA366940410 | DNAH11 | c.6761A>T (p.Lys2254Ile) c.6782A>T (p.Lys2261Ile) | |
7 | g.21710631A= | CA1693636528 | DNAH11 | c.6762A= (p.Lys2254=) c.6783A= (p.Lys2261=) | |
7 | g.21710631A>C | CA366940416 | DNAH11 | c.6762A>C (p.Lys2254Asn) c.6783A>C (p.Lys2261Asn) | |
7 | g.21710631A>G | CA4180976 | DNAH11 | c.6762A>G (p.Lys2254=) c.6783A>G (p.Lys2261=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710631A>T | CA366940420 | DNAH11 | c.6762A>T (p.Lys2254Asn) c.6783A>T (p.Lys2261Asn) | |
7 | g.21710632T>A | CA366940428 | DNAH11 | c.6763T>A (p.Trp2255Arg) c.6784T>A (p.Trp2262Arg) | |
7 | g.21710632T>C | CA366940424 | DNAH11 | c.6763T>C (p.Trp2255Arg) c.6784T>C (p.Trp2262Arg) | ClinVar gnomAD v4 |
7 | g.21710632T>G | CA366940426 | DNAH11 | c.6763T>G (p.Trp2255Gly) c.6784T>G (p.Trp2262Gly) | |
7 | g.21710633G>A | CA366940430 | DNAH11 | c.6764G>A (p.Trp2255Ter) c.6785G>A (p.Trp2262Ter) | gnomAD v4 |
7 | g.21710633G>C | CA366940431 | DNAH11 | c.6764G>C (p.Trp2255Ser) c.6785G>C (p.Trp2262Ser) | |
7 | g.21710633G>T | CA366940433 | DNAH11 | c.6764G>T (p.Trp2255Leu) c.6785G>T (p.Trp2262Leu) | |
7 | g.21710634G>A | CA366940436 | DNAH11 | c.6765G>A (p.Trp2255Ter) c.6786G>A (p.Trp2262Ter) | |
7 | g.21710634G>C | CA366940438 | DNAH11 | c.6765G>C (p.Trp2255Cys) c.6786G>C (p.Trp2262Cys) | |
7 | g.21710634G>T | CA366940442 | DNAH11 | c.6765G>T (p.Trp2255Cys) c.6786G>T (p.Trp2262Cys) | dbSNP |
7 | g.21710635A= | CA1693636537 | DNAH11 | c.6766A= (p.Ile2256=) c.6787A= (p.Ile2263=) | |
7 | g.21710635A>C | CA366940447 | DNAH11 | c.6766A>C (p.Ile2256Leu) c.6787A>C (p.Ile2263Leu) | |
7 | g.21710635A>G | CA4180977 | DNAH11 | c.6766A>G (p.Ile2256Val) c.6787A>G (p.Ile2263Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710635A>T | CA366940451 | DNAH11 | c.6766A>T (p.Ile2256Leu) c.6787A>T (p.Ile2263Leu) | gnomAD v4 |
7 | g.21710636T>A | CA366940454 | DNAH11 | c.6767T>A (p.Ile2256Lys) c.6788T>A (p.Ile2263Lys) | |
7 | g.21710636T>C | CA366940457 | DNAH11 | c.6767T>C (p.Ile2256Thr) c.6788T>C (p.Ile2263Thr) | |
7 | g.21710636T>G | CA366940464 | DNAH11 | c.6767T>G (p.Ile2256Arg) c.6788T>G (p.Ile2263Arg) | |
7 | g.21710637A>C | CA453965490 | DNAH11 | c.6768A>C (p.Ile2256=) c.6789A>C (p.Ile2263=) | |
7 | g.21710637A>G | CA366940466 | DNAH11 | c.6768A>G (p.Ile2256Met) c.6789A>G (p.Ile2263Met) | gnomAD v4 |
7 | g.21710637A>T | CA453965491 | DNAH11 | c.6768A>T (p.Ile2256=) c.6789A>T (p.Ile2263=) | ClinVar |
7 | g.21710638G>A | CA366940475 | DNAH11 | c.6769G>A (p.Val2257Ile) c.6790G>A (p.Val2264Ile) | |
7 | g.21710638G>C | CA366940469 | DNAH11 | c.6769G>C (p.Val2257Leu) c.6790G>C (p.Val2264Leu) | |
7 | g.21710638G>T | CA366940473 | DNAH11 | c.6769G>T (p.Val2257Phe) c.6790G>T (p.Val2264Phe) | |
7 | g.21710639T>A | CA4180978 | DNAH11 | c.6770T>A (p.Val2257Asp) c.6791T>A (p.Val2264Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710639T>C | CA366940479 | DNAH11 | c.6770T>C (p.Val2257Ala) c.6791T>C (p.Val2264Ala) | |
7 | g.21710639T>G | CA366940482 | DNAH11 | c.6770T>G (p.Val2257Gly) c.6791T>G (p.Val2264Gly) | |
7 | g.21710639T= | CA1693636557 | DNAH11 | c.6770T= (p.Val2257=) c.6791T= (p.Val2264=) | |
7 | g.21710640C>A | CA453965495 | DNAH11 | c.6771C>A (p.Val2257=) c.6792C>A (p.Val2264=) | |
7 | g.21710640C= | CA1693636564 | DNAH11 | c.6771C= (p.Val2257=) c.6792C= (p.Val2264=) | |
7 | g.21710640C>G | CA155081551 | DNAH11 | c.6771C>G (p.Val2257=) c.6792C>G (p.Val2264=) | ClinVar dbSNP |
7 | g.21710640C>T | CA4180979 | DNAH11 | c.6771C>T (p.Val2257=) c.6792C>T (p.Val2264=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
7 | g.21710641C>A | CA366940504 | DNAH11 | c.6772C>A (p.Leu2258Met) c.6793C>A (p.Leu2265Met) | dbSNP |
7 | g.21710641C= | CA1693636571 | DNAH11 | c.6772C= (p.Leu2258=) c.6793C= (p.Leu2265=) | |
7 | g.21710641C>G | CA366940507 | DNAH11 | c.6772C>G (p.Leu2258Val) c.6793C>G (p.Leu2265Val) | gnomAD v4 |
7 | g.21710641C>T | CA453965496 | DNAH11 | c.6772C>T (p.Leu2258=) c.6793C>T (p.Leu2265=) | |
7 | g.21710642T>A | CA366940512 | DNAH11 | c.6773T>A (p.Leu2258Gln) c.6794T>A (p.Leu2265Gln) | |
7 | g.21710642T>C | CA366940515 | DNAH11 | c.6773T>C (p.Leu2258Pro) c.6794T>C (p.Leu2265Pro) | |
7 | g.21710642T>G | CA366940524 | DNAH11 | c.6773T>G (p.Leu2258Arg) c.6794T>G (p.Leu2265Arg) | |
7 | g.21710643G>A | CA453965498 | DNAH11 | c.6774G>A (p.Leu2258=) c.6795G>A (p.Leu2265=) | ClinVar gnomAD v4 |
7 | g.21710643G>C | CA453965499 | DNAH11 | c.6774G>C (p.Leu2258=) c.6795G>C (p.Leu2265=) | |
7 | g.21710643G>T | CA453965500 | DNAH11 | c.6774G>T (p.Leu2258=) c.6795G>T (p.Leu2265=) | |
7 | g.21710644G>A | CA366940535 | DNAH11 | c.6775G>A (p.Asp2259Asn) c.6796G>A (p.Asp2266Asn) | |
7 | g.21710644G>C | CA366940532 | DNAH11 | c.6775G>C (p.Asp2259His) c.6796G>C (p.Asp2266His) | |
7 | g.21710644G>T | CA366940528 | DNAH11 | c.6775G>T (p.Asp2259Tyr) c.6796G>T (p.Asp2266Tyr) | |
7 | g.21710645A= | CA1693636578 | DNAH11 | c.6776A= (p.Asp2259=) c.6797A= (p.Asp2266=) | |
7 | g.21710645A>C | CA366940538 | DNAH11 | c.6776A>C (p.Asp2259Ala) c.6797A>C (p.Asp2266Ala) | |
7 | g.21710645A>G | CA366940541 | DNAH11 | c.6776A>G (p.Asp2259Gly) c.6797A>G (p.Asp2266Gly) | |
7 | g.21710645A>T | CA4180980 | DNAH11 | c.6776A>T (p.Asp2259Val) c.6797A>T (p.Asp2266Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710646T>A | CA366940548 | DNAH11 | c.6777T>A (p.Asp2259Glu) c.6798T>A (p.Asp2266Glu) | |
7 | g.21710646T>C | CA453965505 | DNAH11 | c.6777T>C (p.Asp2259=) c.6798T>C (p.Asp2266=) | |
7 | g.21710646T>G | CA366940552 | DNAH11 | c.6777T>G (p.Asp2259Glu) c.6798T>G (p.Asp2266Glu) | |
7 | g.21710647G>A | CA366940568 | DNAH11 | c.6778G>A (p.Gly2260Ser) c.6799G>A (p.Gly2267Ser) | |
7 | g.21710647G>C | CA366940571 | DNAH11 | c.6778G>C (p.Gly2260Arg) c.6799G>C (p.Gly2267Arg) | |
7 | g.21710647G>T | CA366940574 | DNAH11 | c.6778G>T (p.Gly2260Cys) c.6799G>T (p.Gly2267Cys) | |
7 | g.21710648G>A | CA366940587 | DNAH11 | c.6779G>A (p.Gly2260Asp) c.6800G>A (p.Gly2267Asp) | gnomAD v4 |
7 | g.21710648G>C | CA366940588 | DNAH11 | c.6779G>C (p.Gly2260Ala) c.6800G>C (p.Gly2267Ala) | |
7 | g.21710648G>T | CA366940592 | DNAH11 | c.6779G>T (p.Gly2260Val) c.6800G>T (p.Gly2267Val) | |
7 | g.21710649C>A | CA453965507 | DNAH11 | c.6780C>A (p.Gly2260=) c.6801C>A (p.Gly2267=) | dbSNP |
7 | g.21710649C= | CA1693636583 | DNAH11 | c.6780C= (p.Gly2260=) c.6801C= (p.Gly2267=) | |
7 | g.21710649C>G | CA453965508 | DNAH11 | c.6780C>G (p.Gly2260=) c.6801C>G (p.Gly2267=) | ClinVar |
7 | g.21710649C>T | CA4180981 | DNAH11 | c.6780C>T (p.Gly2260=) c.6801C>T (p.Gly2267=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710650G>A | CA366940605 | DNAH11 | c.6781G>A (p.Asp2261Asn) c.6802G>A (p.Asp2268Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
7 | g.21710650G>C | CA4180982 | DNAH11 | c.6781G>C (p.Asp2261His) c.6802G>C (p.Asp2268His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710650G= | CA1693636590 | DNAH11 | c.6781G= (p.Asp2261=) c.6802G= (p.Asp2268=) | |
7 | g.21710650G>T | CA366940598 | DNAH11 | c.6781G>T (p.Asp2261Tyr) c.6802G>T (p.Asp2268Tyr) | |
7 | g.21710651A>C | CA366940607 | DNAH11 | c.6782A>C (p.Asp2261Ala) c.6803A>C (p.Asp2268Ala) | |
7 | g.21710651A>G | CA366940611 | DNAH11 | c.6782A>G (p.Asp2261Gly) c.6803A>G (p.Asp2268Gly) | |
7 | g.21710651A>T | CA366940609 | DNAH11 | c.6782A>T (p.Asp2261Val) c.6803A>T (p.Asp2268Val) | |
7 | g.21710652T>A | CA366940614 | DNAH11 | c.6783T>A (p.Asp2261Glu) c.6804T>A (p.Asp2268Glu) | |
7 | g.21710652T>C | CA453965511 | DNAH11 | c.6783T>C (p.Asp2261=) c.6804T>C (p.Asp2268=) | gnomAD v4 |
7 | g.21710652T>G | CA366940616 | DNAH11 | c.6783T>G (p.Asp2261Glu) c.6804T>G (p.Asp2268Glu) | |
7 | g.21710653A>C | CA366940619 | DNAH11 | c.6784A>C (p.Ile2262Leu) c.6805A>C (p.Ile2269Leu) | |
7 | g.21710653A>G | CA366940623 | DNAH11 | c.6784A>G (p.Ile2262Val) c.6805A>G (p.Ile2269Val) | COSMIC COSMIC |
7 | g.21710653A>T | CA366940626 | DNAH11 | c.6784A>T (p.Ile2262Phe) c.6805A>T (p.Ile2269Phe) | |
7 | g.21710654T>A | CA366940634 | DNAH11 | c.6785T>A (p.Ile2262Asn) c.6806T>A (p.Ile2269Asn) | |
7 | g.21710654T>C | CA366940636 | DNAH11 | c.6785T>C (p.Ile2262Thr) c.6806T>C (p.Ile2269Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710654T>G | CA366940639 | DNAH11 | c.6785T>G (p.Ile2262Ser) c.6806T>G (p.Ile2269Ser) | |
7 | g.21710654T= | CA1693636599 | DNAH11 | c.6785T= (p.Ile2262=) c.6806T= (p.Ile2269=) | |
7 | g.21710655T>A | CA453965513 | DNAH11 | c.6786T>A (p.Ile2262=) c.6807T>A (p.Ile2269=) | |
7 | g.21710655T>C | CA453965512 | DNAH11 | c.6786T>C (p.Ile2262=) c.6807T>C (p.Ile2269=) | |
7 | g.21710655T>G | CA366940640 | DNAH11 | c.6786T>G (p.Ile2262Met) c.6807T>G (p.Ile2269Met) | |
7 | g.21710656G>A | CA366940641 | DNAH11 | c.6787G>A (p.Asp2263Asn) c.6808G>A (p.Asp2270Asn) | |
7 | g.21710656G>C | CA366940642 | DNAH11 | c.6787G>C (p.Asp2263His) c.6808G>C (p.Asp2270His) | |
7 | g.21710656G>T | CA366940643 | DNAH11 | c.6787G>T (p.Asp2263Tyr) c.6808G>T (p.Asp2270Tyr) | |
7 | g.21710657A>C | CA366940648 | DNAH11 | c.6788A>C (p.Asp2263Ala) c.6809A>C (p.Asp2270Ala) | |
7 | g.21710657A>G | CA366940650 | DNAH11 | c.6788A>G (p.Asp2263Gly) c.6809A>G (p.Asp2270Gly) | |
7 | g.21710657A>T | CA366940654 | DNAH11 | c.6788A>T (p.Asp2263Val) c.6809A>T (p.Asp2270Val) | |
7 | g.21710658C>A | CA366940657 | DNAH11 | c.6789C>A (p.Asp2263Glu) c.6810C>A (p.Asp2270Glu) | gnomAD v4 |
7 | g.21710658C= | CA1693636604 | DNAH11 | c.6789C= (p.Asp2263=) c.6810C= (p.Asp2270=) | |
7 | g.21710658C>G | CA366940672 | DNAH11 | c.6789C>G (p.Asp2263Glu) c.6810C>G (p.Asp2270Glu) | |
7 | g.21710658C>T | CA453965517 | DNAH11 | c.6789C>T (p.Asp2263=) c.6810C>T (p.Asp2270=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710661del | CA2681984679 | DNAH11 | c.6792del (p.Met2265CysfsTer6) c.6813del (p.Met2272CysfsTer6) | gnomAD v4 |
7 | g.21710659C>A | CA366940676 | DNAH11 | c.6790C>A (p.Pro2264Thr) c.6811C>A (p.Pro2271Thr) | |
7 | g.21710659C= | CA1693636609 | DNAH11 | c.6790C= (p.Pro2264=) c.6811C= (p.Pro2271=) | |
7 | g.21710659C>G | CA366940679 | DNAH11 | c.6790C>G (p.Pro2264Ala) c.6811C>G (p.Pro2271Ala) | dbSNP |
7 | g.21710659C>T | CA366940682 | DNAH11 | c.6790C>T (p.Pro2264Ser) c.6811C>T (p.Pro2271Ser) | |
7 | g.21710660C>A | CA366940685 | DNAH11 | c.6791C>A (p.Pro2264His) c.6812C>A (p.Pro2271His) | gnomAD v4 |
7 | g.21710660C>G | CA366940687 | DNAH11 | c.6791C>G (p.Pro2264Arg) c.6812C>G (p.Pro2271Arg) | |
7 | g.21710660C>T | CA366940692 | DNAH11 | c.6791C>T (p.Pro2264Leu) c.6812C>T (p.Pro2271Leu) | |
7 | g.21710661C>A | CA453965520 | DNAH11 | c.6792C>A (p.Pro2264=) c.6813C>A (p.Pro2271=) | |
7 | g.21710661C= | CA1693636614 | DNAH11 | c.6792C= (p.Pro2264=) c.6813C= (p.Pro2271=) | |
7 | g.21710661C>G | CA453965521 | DNAH11 | c.6792C>G (p.Pro2264=) c.6813C>G (p.Pro2271=) | |
7 | g.21710661C>T | CA4180983 | DNAH11 | c.6792C>T (p.Pro2264=) c.6813C>T (p.Pro2271=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710662A= | CA1693636617 | DNAH11 | c.6793A= (p.Met2265=) c.6814A= (p.Met2272=) | |
7 | g.21710662A>C | CA155081602 | DNAH11 | c.6793A>C (p.Met2265Leu) c.6814A>C (p.Met2272Leu) | dbSNP |
7 | g.21710662A>G | CA366940702 | DNAH11 | c.6793A>G (p.Met2265Val) c.6814A>G (p.Met2272Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710662A>T | CA366940705 | DNAH11 | c.6793A>T (p.Met2265Leu) c.6814A>T (p.Met2272Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710663T>A | CA366940708 | DNAH11 | c.6794T>A (p.Met2265Lys) c.6815T>A (p.Met2272Lys) | |
7 | g.21710663T>C | CA366940709 | DNAH11 | c.6794T>C (p.Met2265Thr) c.6815T>C (p.Met2272Thr) | COSMIC COSMIC |
7 | g.21710663T>G | CA366940712 | DNAH11 | c.6794T>G (p.Met2265Arg) c.6815T>G (p.Met2272Arg) | |
7 | g.21710663_21710666del | CA2681984680 | DNAH11 | c.6794_6797del (p.Met2265ArgfsTer5) c.6815_6818del (p.Met2272ArgfsTer5) | gnomAD v4 |
7 | g.21710664G>A | CA4180984 | DNAH11 | c.6795G>A (p.Met2265Ile) c.6816G>A (p.Met2272Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710664G>C | CA366940716 | DNAH11 | c.6795G>C (p.Met2265Ile) c.6816G>C (p.Met2272Ile) | |
7 | g.21710664G= | CA1693636629 | DNAH11 | c.6795G= (p.Met2265=) c.6816G= (p.Met2272=) | |
7 | g.21710664G>T | CA366940718 | DNAH11 | c.6795G>T (p.Met2265Ile) c.6816G>T (p.Met2272Ile) | |
7 | g.21710665T>A | CA366940724 | DNAH11 | c.6796T>A (p.Trp2266Arg) c.6817T>A (p.Trp2273Arg) | |
7 | g.21710665T>C | CA366940726 | DNAH11 | c.6796T>C (p.Trp2266Arg) c.6817T>C (p.Trp2273Arg) | |
7 | g.21710665T>G | CA366940730 | DNAH11 | c.6796T>G (p.Trp2266Gly) c.6817T>G (p.Trp2273Gly) | |
7 | g.21710666G>A | CA366940733 | DNAH11 | c.6797G>A (p.Trp2266Ter) c.6818G>A (p.Trp2273Ter) | dbSNP COSMIC COSMIC |
7 | g.21710666G>C | CA366940735 | DNAH11 | c.6797G>C (p.Trp2266Ser) c.6818G>C (p.Trp2273Ser) | |
7 | g.21710666G= | CA1693636635 | DNAH11 | c.6797G= (p.Trp2266=) c.6818G= (p.Trp2273=) | |
7 | g.21710666G>T | CA366940740 | DNAH11 | c.6797G>T (p.Trp2266Leu) c.6818G>T (p.Trp2273Leu) | |
7 | g.21710667G>A | CA366940744 | DNAH11 | c.6798G>A (p.Trp2266Ter) c.6819G>A (p.Trp2273Ter) | gnomAD v4 |
7 | g.21710667G>C | CA366940746 | DNAH11 | c.6798G>C (p.Trp2266Cys) c.6819G>C (p.Trp2273Cys) | |
7 | g.21710667G>T | CA366940748 | DNAH11 | c.6798G>T (p.Trp2266Cys) c.6819G>T (p.Trp2273Cys) | COSMIC COSMIC |
7 | g.21710668A>C | CA366940751 | DNAH11 | c.6799A>C (p.Ile2267Leu) c.6820A>C (p.Ile2274Leu) | |
7 | g.21710668A>G | CA366940752 | DNAH11 | c.6799A>G (p.Ile2267Val) c.6820A>G (p.Ile2274Val) | |
7 | g.21710668A>T | CA366940755 | DNAH11 | c.6799A>T (p.Ile2267Phe) c.6820A>T (p.Ile2274Phe) | gnomAD v4 |
7 | g.21710669T>A | CA366940760 | DNAH11 | c.6800T>A (p.Ile2267Asn) c.6821T>A (p.Ile2274Asn) | |
7 | g.21710669T>C | CA366940759 | DNAH11 | c.6800T>C (p.Ile2267Thr) c.6821T>C (p.Ile2274Thr) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710669T>G | CA366940758 | DNAH11 | c.6800T>G (p.Ile2267Ser) c.6821T>G (p.Ile2274Ser) | |
7 | g.21710669T= | CA1693636646 | DNAH11 | c.6800T= (p.Ile2267=) c.6821T= (p.Ile2274=) | |
7 | g.21710670T>A | CA453965531 | DNAH11 | c.6801T>A (p.Ile2267=) c.6822T>A (p.Ile2274=) | ClinVar |
7 | g.21710670T>C | CA4180985 | DNAH11 | c.6801T>C (p.Ile2267=) c.6822T>C (p.Ile2274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710670T>G | CA366940763 | DNAH11 | c.6801T>G (p.Ile2267Met) c.6822T>G (p.Ile2274Met) | |
7 | g.21710670T= | CA1693636651 | DNAH11 | c.6801T= (p.Ile2267=) c.6822T= (p.Ile2274=) | |
7 | g.21710671G>A | CA366940766 | DNAH11 | c.6802G>A (p.Glu2268Lys) c.6823G>A (p.Glu2275Lys) | |
7 | g.21710671G>C | CA366940769 | DNAH11 | c.6802G>C (p.Glu2268Gln) c.6823G>C (p.Glu2275Gln) | |
7 | g.21710671G>T | CA366940771 | DNAH11 | c.6802G>T (p.Glu2268Ter) c.6823G>T (p.Glu2275Ter) | |
7 | g.21710672A>C | CA366940776 | DNAH11 | c.6803A>C (p.Glu2268Ala) c.6824A>C (p.Glu2275Ala) | |
7 | g.21710672A>G | CA366940779 | DNAH11 | c.6803A>G (p.Glu2268Gly) c.6824A>G (p.Glu2275Gly) | |
7 | g.21710672A>T | CA366940781 | DNAH11 | c.6803A>T (p.Glu2268Val) c.6824A>T (p.Glu2275Val) | |
7 | g.21710673A>C | CA366940786 | DNAH11 | c.6804A>C (p.Glu2268Asp) c.6825A>C (p.Glu2275Asp) | |
7 | g.21710673A>G | CA453965535 | DNAH11 | c.6804A>G (p.Glu2268=) c.6825A>G (p.Glu2275=) | ClinVar |
7 | g.21710673A>T | CA366940789 | DNAH11 | c.6804A>T (p.Glu2268Asp) c.6825A>T (p.Glu2275Asp) | gnomAD v4 |
7 | g.21710674T>A | CA366940792 | DNAH11 | c.6805T>A (p.Ser2269Thr) c.6826T>A (p.Ser2276Thr) | |
7 | g.21710674T>C | CA366940796 | DNAH11 | c.6805T>C (p.Ser2269Pro) c.6826T>C (p.Ser2276Pro) | |
7 | g.21710674T>G | CA366940799 | DNAH11 | c.6805T>G (p.Ser2269Ala) c.6826T>G (p.Ser2276Ala) | |
7 | g.21710675C>A | CA366940808 | DNAH11 | c.6806C>A (p.Ser2269Ter) c.6827C>A (p.Ser2276Ter) | |
7 | g.21710675C>G | CA366940811 | DNAH11 | c.6806C>G (p.Ser2269Ter) c.6827C>G (p.Ser2276Ter) | |
7 | g.21710675C>T | CA366940803 | DNAH11 | c.6806C>T (p.Ser2269Leu) c.6827C>T (p.Ser2276Leu) | |
7 | g.21710676A>C | CA453965538 | DNAH11 | c.6807A>C (p.Ser2269=) c.6828A>C (p.Ser2276=) | |
7 | g.21710676A>G | CA453965540 | DNAH11 | c.6807A>G (p.Ser2269=) c.6828A>G (p.Ser2276=) | |
7 | g.21710676A>T | CA453965541 | DNAH11 | c.6807A>T (p.Ser2269=) c.6828A>T (p.Ser2276=) | |
7 | g.21710677C>A | CA366940821 | DNAH11 | c.6808C>A (p.Leu2270Met) c.6829C>A (p.Leu2277Met) | |
7 | g.21710677C>G | CA366940822 | DNAH11 | c.6808C>G (p.Leu2270Val) c.6829C>G (p.Leu2277Val) | |
7 | g.21710677C>T | CA453965542 | DNAH11 | c.6808C>T (p.Leu2270=) c.6829C>T (p.Leu2277=) | |
7 | g.21710678T>A | CA366940823 | DNAH11 | c.6809T>A (p.Leu2270Gln) c.6830T>A (p.Leu2277Gln) | |
7 | g.21710678T>C | CA366940824 | DNAH11 | c.6809T>C (p.Leu2270Pro) c.6830T>C (p.Leu2277Pro) | |
7 | g.21710678T>G | CA366940826 | DNAH11 | c.6809T>G (p.Leu2270Arg) c.6830T>G (p.Leu2277Arg) | |
7 | g.21710679G>A | CA4180986 | DNAH11 | c.6810G>A (p.Leu2270=) c.6831G>A (p.Leu2277=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710679G>C | CA453965546 | DNAH11 | c.6810G>C (p.Leu2270=) c.6831G>C (p.Leu2277=) | dbSNP gnomAD v4 |
7 | g.21710679G= | CA1693636657 | DNAH11 | c.6810G= (p.Leu2270=) c.6831G= (p.Leu2277=) | |
7 | g.21710679G>T | CA453965547 | DNAH11 | c.6810G>T (p.Leu2270=) c.6831G>T (p.Leu2277=) | |
7 | g.21710679_21710680delinsGA | CA1693636659 | DNAH11 | c.6810_6811delinsGA (p.Leu2270=) c.6831_6832delinsGA (p.Leu2277=) | |
7 | g.21710680A>C | CA366940832 | DNAH11 | c.6811A>C (p.Asn2271His) c.6832A>C (p.Asn2278His) | gnomAD v4 |
7 | g.21710680A>G | CA366940837 | DNAH11 | c.6811A>G (p.Asn2271Asp) c.6832A>G (p.Asn2278Asp) | |
7 | g.21710680A>T | CA366940840 | DNAH11 | c.6811A>T (p.Asn2271Tyr) c.6832A>T (p.Asn2278Tyr) | |
7 | g.21710681del | CA1693636662 | DNAH11 | c.6812del (p.Asn2271IlefsTer3) c.6833del (p.Asn2278IlefsTer3) | dbSNP |
7 | g.21710681A>C | CA366940845 | DNAH11 | c.6812A>C (p.Asn2271Thr) c.6833A>C (p.Asn2278Thr) | |
7 | g.21710681A>G | CA366940848 | DNAH11 | c.6812A>G (p.Asn2271Ser) c.6833A>G (p.Asn2278Ser) | ClinVar |
7 | g.21710681A>T | CA366940851 | DNAH11 | c.6812A>T (p.Asn2271Ile) c.6833A>T (p.Asn2278Ile) | |
7 | g.21710682T>A | CA366940855 | DNAH11 | c.6813T>A (p.Asn2271Lys) c.6834T>A (p.Asn2278Lys) | |
7 | g.21710682T>C | CA453965549 | DNAH11 | c.6813T>C (p.Asn2271=) c.6834T>C (p.Asn2278=) | ClinVar gnomAD v4 |
7 | g.21710682T>G | CA366940858 | DNAH11 | c.6813T>G (p.Asn2271Lys) c.6834T>G (p.Asn2278Lys) | |
7 | g.21710683A= | CA1693636674 | DNAH11 | c.6814A= (p.Thr2272=) c.6835A= (p.Thr2279=) | |
7 | g.21710683A>C | CA366940871 | DNAH11 | c.6814A>C (p.Thr2272Pro) c.6835A>C (p.Thr2279Pro) | |
7 | g.21710683A>G | CA4180987 | DNAH11 | c.6814A>G (p.Thr2272Ala) c.6835A>G (p.Thr2279Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710683A>T | CA366940872 | DNAH11 | c.6814A>T (p.Thr2272Ser) c.6835A>T (p.Thr2279Ser) | |
7 | g.21710684C>A | CA366940880 | DNAH11 | c.6815C>A (p.Thr2272Asn) c.6836C>A (p.Thr2279Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710684C= | CA1693636675 | DNAH11 | c.6815C= (p.Thr2272=) c.6836C= (p.Thr2279=) | |
7 | g.21710684C>G | CA366940883 | DNAH11 | c.6815C>G (p.Thr2272Ser) c.6836C>G (p.Thr2279Ser) | |
7 | g.21710684C>T | CA366940887 | DNAH11 | c.6815C>T (p.Thr2272Ile) c.6836C>T (p.Thr2279Ile) | dbSNP |
7 | g.21710685T>A | CA453965551 | DNAH11 | c.6816T>A (p.Thr2272=) c.6837T>A (p.Thr2279=) | |
7 | g.21710685T>C | CA4180988 | DNAH11 | c.6816T>C (p.Thr2272=) c.6837T>C (p.Thr2279=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.21710685T>G | CA453965552 | DNAH11 | c.6816T>G (p.Thr2272=) c.6837T>G (p.Thr2279=) | |
7 | g.21710685T= | CA1693636678 | DNAH11 | c.6816T= (p.Thr2272=) c.6837T= (p.Thr2279=) | |
7 | g.21710686G>A | CA4180989 | DNAH11 | c.6817G>A (p.Val2273Ile) c.6838G>A (p.Val2280Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.21710686G>C | CA366940907 | DNAH11 | c.6817G>C (p.Val2273Leu) c.6838G>C (p.Val2280Leu) | |
7 | g.21710686G= | CA1693636682 | DNAH11 | c.6817G= (p.Val2273=) c.6838G= (p.Val2280=) | |
7 | g.21710686G>T | CA366940910 | DNAH11 | c.6817G>T (p.Val2273Leu) c.6838G>T (p.Val2280Leu) | |
7 | g.21710687T>A | CA366940916 | DNAH11 | c.6818T>A (p.Val2273Glu) c.6839T>A (p.Val2280Glu) | |
7 | g.21710687T>C | CA366940919 | DNAH11 | c.6818T>C (p.Val2273Ala) c.6839T>C (p.Val2280Ala) | |
7 | g.21710687T>G | CA366940922 | DNAH11 | c.6818T>G (p.Val2273Gly) c.6839T>G (p.Val2280Gly) | |
7 | g.21710688A>C | CA453965558 | DNAH11 | c.6819A>C (p.Val2273=) c.6840A>C (p.Val2280=) | |
7 | g.21710688A>G | CA453965559 | DNAH11 | c.6819A>G (p.Val2273=) c.6840A>G (p.Val2280=) | |
7 | g.21710688A>T | CA453965560 | DNAH11 | c.6819A>T (p.Val2273=) c.6840A>T (p.Val2280=) | |
7 | g.21710689A>C | CA366940927 | DNAH11 | c.6820A>C (p.Met2274Leu) c.6841A>C (p.Met2281Leu) | |
7 | g.21710689A>G | CA366940929 | DNAH11 | c.6820A>G (p.Met2274Val) c.6841A>G (p.Met2281Val) | |
7 | g.21710689A>T | CA366940925 | DNAH11 | c.6820A>T (p.Met2274Leu) c.6841A>T (p.Met2281Leu) | |
7 | g.21710690T>A | CA366940932 | DNAH11 | c.6821T>A (p.Met2274Lys) c.6842T>A (p.Met2281Lys) | |
7 | g.21710690T>C | CA366940934 | DNAH11 | c.6821T>C (p.Met2274Thr) c.6842T>C (p.Met2281Thr) | |
7 | g.21710690T>G | CA366940945 | DNAH11 | c.6821T>G (p.Met2274Arg) c.6842T>G (p.Met2281Arg) | |
7 | g.21710691G>A | CA366940948 | DNAH11 | c.6822G>A (p.Met2274Ile) c.6843G>A (p.Met2281Ile) | |
7 | g.21710691G>C | CA366940950 | DNAH11 | c.6822G>C (p.Met2274Ile) c.6843G>C (p.Met2281Ile) | |
7 | g.21710691G>T | CA366940951 | DNAH11 | c.6822G>T (p.Met2274Ile) c.6843G>T (p.Met2281Ile) | |
7 | g.21710692G>A | CA366940953 | DNAH11 | c.6823G>A (p.Asp2275Asn) c.6844G>A (p.Asp2282Asn) | |
7 | g.21710692G>C | CA366940956 | DNAH11 | c.6823G>C (p.Asp2275His) c.6844G>C (p.Asp2282His) | |
7 | g.21710692G>T | CA366940958 | DNAH11 | c.6823G>T (p.Asp2275Tyr) c.6844G>T (p.Asp2282Tyr) | gnomAD v4 |
7 | g.21710695_21710697del | CA2681984681 | DNAH11 | c.6826_6828del (p.Asp2276del) c.6847_6849del (p.Asp2283del) | gnomAD v4 |
7 | g.21710693A= | CA1693636693 | DNAH11 | c.6824A= (p.Asp2275=) c.6845A= (p.Asp2282=) | |
7 | g.21710693A>C | CA366940961 | DNAH11 | c.6824A>C (p.Asp2275Ala) c.6845A>C (p.Asp2282Ala) | |
7 | g.21710693A>G | CA366940963 | DNAH11 | c.6824A>G (p.Asp2275Gly) c.6845A>G (p.Asp2282Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.21710693A>T | CA366940964 | DNAH11 | c.6824A>T (p.Asp2275Val) c.6845A>T (p.Asp2282Val) | gnomAD v4 |
7 | g.21710694T>A | CA366940968 | DNAH11 | c.6825T>A (p.Asp2275Glu) c.6846T>A (p.Asp2282Glu) | |
7 | g.21710694T>C | CA453965565 | DNAH11 | c.6825T>C (p.Asp2275=) c.6846T>C (p.Asp2282=) | |
7 | g.21710694T>G | CA366940966 | DNAH11 | c.6825T>G (p.Asp2275Glu) c.6846T>G (p.Asp2282Glu) | |
7 | g.21710695G>A | CA366940969 | DNAH11 | c.6826G>A (p.Asp2276Asn) c.6847G>A (p.Asp2283Asn) | gnomAD v4 |
7 | g.21710695G>C | CA366940971 | DNAH11 | c.6826G>C (p.Asp2276His) c.6847G>C (p.Asp2283His) | COSMIC COSMIC |
7 | g.21710695G>T | CA366940973 | DNAH11 | c.6826G>T (p.Asp2276Tyr) c.6847G>T (p.Asp2283Tyr) | |
7 | g.21710696A= | CA1693636699 | DNAH11 | c.6827A= (p.Asp2276=) c.6848A= (p.Asp2283=) | |
7 | g.21710696A>C | CA366940975 | DNAH11 | c.6827A>C (p.Asp2276Ala) c.6848A>C (p.Asp2283Ala) | |
7 | g.21710696A>G | CA366940976 | DNAH11 | c.6827A>G (p.Asp2276Gly) c.6848A>G (p.Asp2283Gly) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710696A>T | CA366940977 | DNAH11 | c.6827A>T (p.Asp2276Val) c.6848A>T (p.Asp2283Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.21710697T>A | CA366940978 | DNAH11 | c.6828T>A (p.Asp2276Glu) c.6849T>A (p.Asp2283Glu) | |
7 | g.21710697T>C | CA453965570 | DNAH11 | c.6828T>C (p.Asp2276=) c.6849T>C (p.Asp2283=) | |
7 | g.21710697T>G | CA366940979 | DNAH11 | c.6828T>G (p.Asp2276Glu) c.6849T>G (p.Asp2283Glu) | |
7 | g.21710698A>C | CA366940981 | DNAH11 | c.6829A>C (p.Asn2277His) c.6850A>C (p.Asn2284His) | gnomAD v4 |
7 | g.21710698A>G | CA366940983 | DNAH11 | c.6829A>G (p.Asn2277Asp) c.6850A>G (p.Asn2284Asp) | |
7 | g.21710698A>T | CA366940985 | DNAH11 | c.6829A>T (p.Asn2277Tyr) c.6850A>T (p.Asn2284Tyr) | |
7 | g.21710700_21710702del | CA2681984682 | DNAH11 | c.6831_6833del (p.Asn2277del) c.6852_6854del (p.Asn2284del) | gnomAD v4 |
7 | g.21710699A>C | CA366940986 | DNAH11 | c.6830A>C (p.Asn2277Thr) c.6851A>C (p.Asn2284Thr) | |
7 | g.21710699A>G | CA366940987 | DNAH11 | c.6830A>G (p.Asn2277Ser) c.6851A>G (p.Asn2284Ser) | gnomAD v4 |
7 | g.21710699A>T | CA366940993 | DNAH11 | c.6830A>T (p.Asn2277Ile) c.6851A>T (p.Asn2284Ile) | |
7 | g.21710700C>A | CA366940994 | DNAH11 | c.6831C>A (p.Asn2277Lys) c.6852C>A (p.Asn2284Lys) | |
7 | g.21710700C>G | CA366940996 | DNAH11 | c.6831C>G (p.Asn2277Lys) c.6852C>G (p.Asn2284Lys) | gnomAD v4 |
7 | g.21710700C>T | CA453965576 | DNAH11 | c.6831C>T (p.Asn2277=) c.6852C>T (p.Asn2284=) | gnomAD v4 |
7 | g.21710701A= | CA1693636704 | DNAH11 | c.6832A= (p.Lys2278=) c.6853A= (p.Lys2285=) | |
7 | g.21710701A>C | CA366940998 | DNAH11 | c.6832A>C (p.Lys2278Gln) c.6853A>C (p.Lys2285Gln) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710701A>G | CA366941001 | DNAH11 | c.6832A>G (p.Lys2278Glu) c.6853A>G (p.Lys2285Glu) | |
7 | g.21710701A>T | CA366941000 | DNAH11 | c.6832A>T (p.Lys2278Ter) c.6853A>T (p.Lys2285Ter) | dbSNP |
7 | g.21710702A>C | CA366941003 | DNAH11 | c.6833A>C (p.Lys2278Thr) c.6854A>C (p.Lys2285Thr) | |
7 | g.21710702A>G | CA366941008 | DNAH11 | c.6833A>G (p.Lys2278Arg) c.6854A>G (p.Lys2285Arg) | |
7 | g.21710702A>T | CA366941005 | DNAH11 | c.6833A>T (p.Lys2278Met) c.6854A>T (p.Lys2285Met) | |
7 | g.21710703G>A | CA453965577 | DNAH11 | c.6834G>A (p.Lys2278=) c.6855G>A (p.Lys2285=) | |
7 | g.21710703G>C | CA366941010 | DNAH11 | c.6834G>C (p.Lys2278Asn) c.6855G>C (p.Lys2285Asn) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.21710703G= | CA1693636709 | DNAH11 | c.6834G= (p.Lys2278=) c.6855G= (p.Lys2285=) | |
7 | g.21710703G>T | CA366941012 | DNAH11 | c.6834G>T (p.Lys2278Asn) c.6855G>T (p.Lys2285Asn) | |
7 | g.21710704G>A | CA366941014 | DNAH11 | c.6834+1G>A (n.6834+1G>A) c.6855+1G>A (n.6855+1G>A) | dbSNP gnomAD v2 |
7 | g.21710704G>C | CA366941016 | DNAH11 | c.6834+1G>C (n.6834+1G>C) c.6855+1G>C (n.6855+1G>C) | |
7 | g.21710704G= | CA1693636719 | DNAH11 | c.6834+1G= (n.6834+1G=) c.6855+1G= (n.6855+1G=) | |
7 | g.21710704G>T | CA366941018 | DNAH11 | c.6834+1G>T (n.6834+1G>T) c.6855+1G>T (n.6855+1G>T) | ClinVar dbSNP gnomAD v2 |
7 | g.21710705T>A | CA366941019 | DNAH11 | c.6834+2T>A (n.6834+2T>A) c.6855+2T>A (n.6855+2T>A) | |
7 | g.21710705T>C | CA366941021 | DNAH11 | c.6834+2T>C (n.6834+2T>C) c.6855+2T>C (n.6855+2T>C) | |
7 | g.21710705T>G | CA366941022 | DNAH11 | c.6834+2T>G (n.6834+2T>G) c.6855+2T>G (n.6855+2T>G) |