Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.50198433_50199305delinsA | CA2573131850 | COL1A1 | c.392_543delinsT | |
17 | g.50199215_50199218dup | CA2580612656 | COL1A1 | c.471+9_471+12dup (n.471+9_471+12dup) | ClinVar gnomAD v4 |
17 | g.50199215T>G | CA2263920583 | COL1A1 | c.471+11A>C (n.471+11A>C) | dbSNP |
17 | g.50199215T= | CA2263920582 | COL1A1 | c.471+11A= (n.471+11A=) | |
17 | g.50199216C>A | CA2638681519 | COL1A1 | c.471+10G>T (n.471+10G>T) | gnomAD v4 |
17 | g.50199217T>C | CA2638681524 | COL1A1 | c.471+9A>G (n.471+9A>G) | gnomAD v4 |
17 | g.50199219C>T | CA2638681527 | COL1A1 | c.471+7G>A (n.471+7G>A) | gnomAD v4 |
17 | g.50199220A= | CA2263920584 | COL1A1 | c.471+6T= (n.471+6T=) | |
17 | g.50199220A>G | CA772776383 | COL1A1 | c.471+6T>C (n.471+6T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199220A>T | CA2809770995 | COL1A1 | c.471+6T>A (n.471+6T>A) | |
17 | g.50199221C>A | CA658798906 | COL1A1 | c.471+5G>T (n.471+5G>T) | ClinVar dbSNP |
17 | g.50199221C= | CA2263920585 | COL1A1 | c.471+5G= (n.471+5G=) | |
17 | g.50199221C>G | CA2573054490 | COL1A1 | c.471+5G>C (n.471+5G>C) | ClinVar dbSNP |
17 | g.50199221C>T | CA2573154234 | COL1A1 | c.471+5G>A (n.471+5G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.50199223T>C | CA2638681564 | COL1A1 | c.471+3A>G (n.471+3A>G) | gnomAD v4 |
17 | g.50199224A>C | CA400227206 | COL1A1 | c.471+2T>G (n.471+2T>G) | |
17 | g.50199224A>G | CA400227201 | COL1A1 | c.471+2T>C (n.471+2T>C) | gnomAD v4 |
17 | g.50199224A>T | CA400227204 | COL1A1 | c.471+2T>A (n.471+2T>A) | |
17 | g.50199225C>A | CA400227210 | COL1A1 | c.471+1G>T (n.471+1G>T) | gnomAD v4 |
17 | g.50199225C= | CA2263920586 | COL1A1 | c.471+1G= (n.471+1G=) | |
17 | g.50199225C>G | CA400227213 | COL1A1 | c.471+1G>C (n.471+1G>C) | |
17 | g.50199225C>T | CA291550331 | COL1A1 | c.471+1G>A (n.471+1G>A) | dbSNP gnomAD v4 |
17 | g.50199226T>A | CA500852131 | COL1A1 | c.471A>T (p.Gly157=) | |
17 | g.50199226T>C | CA500852132 | COL1A1 | c.471A>G (p.Gly157=) | gnomAD v4 |
17 | g.50199226T>G | CA500852130 | COL1A1 | c.471A>C (p.Gly157=) | |
17 | g.50199227C>A | CA400227215 | COL1A1 | c.470G>T (p.Gly157Val) | gnomAD v4 |
17 | g.50199227C>G | CA400227216 | COL1A1 | c.470G>C (p.Gly157Ala) | |
17 | g.50199227C>T | CA400227217 | COL1A1 | c.470G>A (p.Gly157Glu) | |
17 | g.50199228C>A | CA400227220 | COL1A1 | c.469G>T (p.Gly157Ter) | |
17 | g.50199228C>G | CA400227221 | COL1A1 | c.469G>C (p.Gly157Arg) | gnomAD v4 |
17 | g.50199228C>T | CA400227223 | COL1A1 | c.469G>A (p.Gly157Arg) | |
17 | g.50199229T>A | CA500852133 | COL1A1 | c.468A>T (p.Gly156=) | |
17 | g.50199229T>C | CA500852134 | COL1A1 | c.468A>G (p.Gly156=) | dbSNP |
17 | g.50199229T>G | CA500852135 | COL1A1 | c.468A>C (p.Gly156=) | |
17 | g.50199229T= | CA2263920587 | COL1A1 | c.468A= (p.Gly156=) | |
17 | g.50199230C>A | CA400227225 | COL1A1 | c.467G>T (p.Gly156Val) | |
17 | g.50199230C>G | CA400227227 | COL1A1 | c.467G>C (p.Gly156Ala) | |
17 | g.50199230C>T | CA400227230 | COL1A1 | c.467G>A (p.Gly156Glu) | gnomAD v4 |
17 | g.50199231C>A | CA400227234 | COL1A1 | c.466G>T (p.Gly156Ter) | gnomAD v4 |
17 | g.50199231C= | CA2263920588 | COL1A1 | c.466G= (p.Gly156=) | |
17 | g.50199231C>G | CA400227236 | COL1A1 | c.466G>C (p.Gly156Arg) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199231C>T | CA8645698 | COL1A1 | c.466G>A (p.Gly156Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199232G>A | CA500852136 | COL1A1 | c.465C>T (p.Leu155=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199232G>C | CA500852137 | COL1A1 | c.465C>G (p.Leu155=) | |
17 | g.50199232G= | CA2263920589 | COL1A1 | c.465C= (p.Leu155=) | |
17 | g.50199232G>T | CA500852138 | COL1A1 | c.465C>A (p.Leu155=) | gnomAD v4 |
17 | g.50199236_50199252del | CA2695226552 | COL1A1 | c.449_465del (p.Pro150ArgfsTer13) | |
17 | g.50199233A>C | CA400227240 | COL1A1 | c.464T>G (p.Leu155Arg) | |
17 | g.50199233A>G | CA400227242 | COL1A1 | c.464T>C (p.Leu155Pro) | |
17 | g.50199233A>T | CA400227245 | COL1A1 | c.464T>A (p.Leu155His) | |
17 | g.50199234G>A | CA400227247 | COL1A1 | c.463C>T (p.Leu155Phe) | |
17 | g.50199234G>C | CA400227249 | COL1A1 | c.463C>G (p.Leu155Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199234G= | CA2263920590 | COL1A1 | c.463C= (p.Leu155=) | |
17 | g.50199234G>T | CA400227252 | COL1A1 | c.463C>A (p.Leu155Ile) | |
17 | g.50199244_50199315del | CA2638681625 | COL1A1 | c.392_463del (p.Arg131_Gly154del) | gnomAD v4 |
17 | g.50199235G>A | CA8645699 | COL1A1 | c.462C>T (p.Gly154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199235G>C | CA500852139 | COL1A1 | c.462C>G (p.Gly154=) | |
17 | g.50199235G= | CA2263920591 | COL1A1 | c.462C= (p.Gly154=) | |
17 | g.50199235G>T | CA500852140 | COL1A1 | c.462C>A (p.Gly154=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199236C>A | CA400227255 | COL1A1 | c.461G>T (p.Gly154Val) | |
17 | g.50199236C>G | CA400227258 | COL1A1 | c.461G>C (p.Gly154Ala) | |
17 | g.50199236C>T | CA400227256 | COL1A1 | c.461G>A (p.Gly154Asp) | |
17 | g.50199237C>A | CA400227260 | COL1A1 | c.460G>T (p.Gly154Cys) | |
17 | g.50199237C>G | CA400227263 | COL1A1 | c.460G>C (p.Gly154Arg) | |
17 | g.50199237C>T | CA400227266 | COL1A1 | c.460G>A (p.Gly154Ser) | gnomAD v4 |
17 | g.50199237_50199238delinsCA | CA2263920592 | COL1A1 | c.459_460delinsTG (p.Pro153=) | |
17 | g.50199238del | CA291550343 | COL1A1 | c.459del (p.Gly154AlafsTer?) | ClinVar dbSNP |
17 | g.50199238A= | CA2263920595 | COL1A1 | c.459T= (p.Pro153=) | |
17 | g.50199238A>C | CA500852143 | COL1A1 | c.459T>G (p.Pro153=) | gnomAD v4 |
17 | g.50199238A>G | CA500852141 | COL1A1 | c.459T>C (p.Pro153=) | ClinVar dbSNP gnomAD v4 |
17 | g.50199238A>T | CA500852142 | COL1A1 | c.459T>A (p.Pro153=) | COSMIC |
17 | g.50199238_50199239delinsAG | CA2263920593 | COL1A1 | c.458_459delinsCT (p.Pro153=) | |
17 | g.50199238_50199256delinsAGGGGGTCCGGGAGGTCCG | CA2263920594 | COL1A1 | c.441_459delinsCGGACCTCCCGGACCCCCT (p.Pro147=) | |
17 | g.50199239G>A | CA400227274 | COL1A1 | c.458C>T (p.Pro153Leu) | gnomAD v4 |
17 | g.50199239G>C | CA400227276 | COL1A1 | c.458C>G (p.Pro153Arg) | |
17 | g.50199239G>T | CA400227275 | COL1A1 | c.458C>A (p.Pro153His) | gnomAD v4 |
17 | g.50199243dup | CA645293910 | COL1A1 | c.458dup (p.Gly154TrpfsTer15) | ClinVar dbSNP |
17 | g.50199243del | CA915950624 | COL1A1 | c.458del (p.Pro153LeufsTer?) | ClinVar dbSNP gnomAD v4 |
17 | g.50199241_50199249dup | CA2842164339 | COL1A1 | c.450_458dup (p.Pro153_Gly154insGlyProPro) | |
17 | g.50199250_50199267dup | CA2638681687 | COL1A1 | c.441_458dup (p.Pro153_Gly154insGlyProProGlyProPro) | ClinVar gnomAD v4 |
17 | g.50199250_50199267del | CA500852144 | COL1A1 | c.441_458del (p.Gly148_Pro153del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199251_50199277del | CA2573154235 | COL1A1 | c.432_458del (p.Gly145_Pro153del) | ClinVar dbSNP gnomAD v4 |
17 | g.50199240G>A | CA400227277 | COL1A1 | c.457C>T (p.Pro153Ser) | ClinVar gnomAD v4 |
17 | g.50199240G>C | CA400227278 | COL1A1 | c.457C>G (p.Pro153Ala) | gnomAD v4 |
17 | g.50199240G>T | CA400227280 | COL1A1 | c.457C>A (p.Pro153Thr) | gnomAD v4 |
17 | g.50199241G>A | CA500852145 | COL1A1 | c.456C>T (p.Pro152=) | gnomAD v4 |
17 | g.50199241G>C | CA500852146 | COL1A1 | c.456C>G (p.Pro152=) | |
17 | g.50199241G>T | CA500852147 | COL1A1 | c.456C>A (p.Pro152=) | gnomAD v4 |
17 | g.50199241_50199250delinsGGGTCCGGGA | CA2263920596 | COL1A1 | c.447_456delinsTCCCGGACCC (p.Pro149=) | |
17 | g.50199242G>A | CA400227281 | COL1A1 | c.455C>T (p.Pro152Leu) | gnomAD v4 |
17 | g.50199242G>C | CA400227282 | COL1A1 | c.455C>G (p.Pro152Arg) | gnomAD v4 |
17 | g.50199242G= | CA2263920597 | COL1A1 | c.455C= (p.Pro152=) | |
17 | g.50199242G>T | CA400227283 | COL1A1 | c.455C>A (p.Pro152His) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199258_50199259insAGGTCCGGGAGGTCCGGG | CA626486269 | COL1A1 | c.455_456insTCCCGGACCTCCCGGACC (p.Pro152_Pro153insProGlyProProGlyPro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199250_50199258dup | CA2576317756 | COL1A1 | c.447_455dup (p.Pro152_Pro153insProGlyPro) | gnomAD v4 |
17 | g.50199250_50199258del | CA626486268 | COL1A1 | c.447_455del (p.Pro150_Pro152del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199243G>A | CA400227285 | COL1A1 | c.454C>T (p.Pro152Ser) | |
17 | g.50199243G>C | CA400227286 | COL1A1 | c.454C>G (p.Pro152Ala) | |
17 | g.50199243G= | CA2263920598 | COL1A1 | c.454C= (p.Pro152=) | |
17 | g.50199243G>T | CA400227288 | COL1A1 | c.454C>A (p.Pro152Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199244T>A | CA500852148 | COL1A1 | c.453A>T (p.Gly151=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199244T>C | CA500852149 | COL1A1 | c.453A>G (p.Gly151=) | |
17 | g.50199244T>G | CA500852150 | COL1A1 | c.453A>C (p.Gly151=) | |
17 | g.50199244T= | CA2263920599 | COL1A1 | c.453A= (p.Gly151=) | |
17 | g.50199245C>A | CA400227289 | COL1A1 | c.452G>T (p.Gly151Val) | gnomAD v4 |
17 | g.50199245C= | CA2263920600 | COL1A1 | c.452G= (p.Gly151=) | |
17 | g.50199245C>G | CA400227291 | COL1A1 | c.452G>C (p.Gly151Ala) | |
17 | g.50199245C>T | CA291550346 | COL1A1 | c.452G>A (p.Gly151Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199246dup | CA2573050781 | COL1A1 | c.452dup (p.Pro152ThrfsTer17) | ClinVar dbSNP |
17 | g.50199246C>A | CA400227294 | COL1A1 | c.451G>T (p.Gly151Ter) | gnomAD v4 |
17 | g.50199246C>G | CA400227292 | COL1A1 | c.451G>C (p.Gly151Arg) | |
17 | g.50199246C>T | CA400227293 | COL1A1 | c.451G>A (p.Gly151Arg) | ClinVar |
17 | g.50199247G>A | CA500852151 | COL1A1 | c.450C>T (p.Pro150=) | gnomAD v4 |
17 | g.50199247G>C | CA500852152 | COL1A1 | c.450C>G (p.Pro150=) | gnomAD v4 |
17 | g.50199247G>T | CA500852153 | COL1A1 | c.450C>A (p.Pro150=) | gnomAD v4 |
17 | g.50199248G>A | CA400227295 | COL1A1 | c.449C>T (p.Pro150Leu) | ClinVar gnomAD v4 |
17 | g.50199248G>C | CA400227297 | COL1A1 | c.449C>G (p.Pro150Arg) | |
17 | g.50199248G>T | CA400227298 | COL1A1 | c.449C>A (p.Pro150His) | gnomAD v4 |
17 | g.50199249G>A | CA400227300 | COL1A1 | c.448C>T (p.Pro150Ser) | gnomAD v4 |
17 | g.50199249G>C | CA400227301 | COL1A1 | c.448C>G (p.Pro150Ala) | gnomAD v4 |
17 | g.50199249G>T | CA400227302 | COL1A1 | c.448C>A (p.Pro150Thr) | |
17 | g.50199250A= | CA2263920602 | COL1A1 | c.447T= (p.Pro149=) | |
17 | g.50199250A>C | CA500852154 | COL1A1 | c.447T>G (p.Pro149=) | |
17 | g.50199250A>G | CA500852155 | COL1A1 | c.447T>C (p.Pro149=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199250A>T | CA500852156 | COL1A1 | c.447T>A (p.Pro149=) | |
17 | g.50199250_50199259delinsAGGTCCGGGG | CA2263920601 | COL1A1 | c.438_447delinsCCCCGGACCT (p.Pro146=) | |
17 | g.50199251G>A | CA400227307 | COL1A1 | c.446C>T (p.Pro149Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199251G>C | CA400227304 | COL1A1 | c.446C>G (p.Pro149Arg) | |
17 | g.50199251G= | CA2263920603 | COL1A1 | c.446C= (p.Pro149=) | |
17 | g.50199251G>T | CA400227305 | COL1A1 | c.446C>A (p.Pro149His) | |
17 | g.50199268_50199276dup | CA8645700 | COL1A1 | c.438_446dup (p.Pro149_Pro150insProGlyPro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199268_50199276del | CA626486271 | COL1A1 | c.438_446del (p.Pro147_Pro149del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199259_50199276del | CA2638681844 | COL1A1 | c.429_446del (p.Pro144_Pro149del) | gnomAD v4 |
17 | g.50199252G>A | CA400227309 | COL1A1 | c.445C>T (p.Pro149Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199252G>C | CA400227311 | COL1A1 | c.445C>G (p.Pro149Ala) | |
17 | g.50199252G= | CA2263920604 | COL1A1 | c.445C= (p.Pro149=) | |
17 | g.50199252G>T | CA400227312 | COL1A1 | c.445C>A (p.Pro149Thr) | gnomAD v4 |
17 | g.50199253T>A | CA500852159 | COL1A1 | c.444A>T (p.Gly148=) | |
17 | g.50199253T>C | CA500852158 | COL1A1 | c.444A>G (p.Gly148=) | |
17 | g.50199253T>G | CA500852157 | COL1A1 | c.444A>C (p.Gly148=) | |
17 | g.50199254C>A | CA400227313 | COL1A1 | c.443G>T (p.Gly148Val) | |
17 | g.50199254C>G | CA400227315 | COL1A1 | c.443G>C (p.Gly148Ala) | |
17 | g.50199254C>T | CA400227317 | COL1A1 | c.443G>A (p.Gly148Glu) | |
17 | g.50199255dup | CA2739291025 | COL1A1 | c.443dup (p.Pro149ThrfsTer20) | |
17 | g.50199255C>A | CA400227318 | COL1A1 | c.442G>T (p.Gly148Ter) | gnomAD v4 |
17 | g.50199255C>G | CA400227321 | COL1A1 | c.442G>C (p.Gly148Arg) | |
17 | g.50199255C>T | CA400227320 | COL1A1 | c.442G>A (p.Gly148Arg) | gnomAD v4 |
17 | g.50199255_50199256delinsCG | CA2263920605 | COL1A1 | c.441_442delinsCG (p.Pro147=) | |
17 | g.50199256G>A | CA500852160 | COL1A1 | c.441C>T (p.Pro147=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199256G>C | CA500852161 | COL1A1 | c.441C>G (p.Pro147=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199256G= | CA2263920606 | COL1A1 | c.441C= (p.Pro147=) | |
17 | g.50199256G>T | CA500852162 | COL1A1 | c.441C>A (p.Pro147=) | gnomAD v4 |
17 | g.50199256delinsTGA | CA2695226553 | COL1A1 | c.441delinsTCA (p.Gly148GlnfsTer?) | |
17 | g.50199261dup | CA2638681886 | COL1A1 | c.441dup (p.Gly148ArgfsTer21) | gnomAD v4 |
17 | g.50199261del | CA626486275 | COL1A1 | c.441del (p.Gly148AspfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199257G>A | CA400227323 | COL1A1 | c.440C>T (p.Pro147Leu) | |
17 | g.50199257G>C | CA400227324 | COL1A1 | c.440C>G (p.Pro147Arg) | dbSNP |
17 | g.50199257G= | CA2263920607 | COL1A1 | c.440C= (p.Pro147=) | |
17 | g.50199257G>T | CA400227326 | COL1A1 | c.440C>A (p.Pro147His) | gnomAD v4 |
17 | g.50199258G>A | CA400227327 | COL1A1 | c.439C>T (p.Pro147Ser) | ClinVar gnomAD v4 |
17 | g.50199258G>C | CA400227329 | COL1A1 | c.439C>G (p.Pro147Ala) | gnomAD v4 |
17 | g.50199258G>T | CA400227330 | COL1A1 | c.439C>A (p.Pro147Thr) | |
17 | g.50199259G>A | CA291550373 | COL1A1 | c.438C>T (p.Pro146=) | dbSNP gnomAD v4 |
17 | g.50199259G>C | CA500852163 | COL1A1 | c.438C>G (p.Pro146=) | |
17 | g.50199259G= | CA2263920608 | COL1A1 | c.438C= (p.Pro146=) | |
17 | g.50199259G>T | CA500852164 | COL1A1 | c.438C>A (p.Pro146=) | gnomAD v4 |
17 | g.50199260G>A | CA400227332 | COL1A1 | c.437C>T (p.Pro146Leu) | gnomAD v4 |
17 | g.50199260G>C | CA400227334 | COL1A1 | c.437C>G (p.Pro146Arg) | |
17 | g.50199260G>T | CA400227335 | COL1A1 | c.437C>A (p.Pro146His) | gnomAD v4 |
17 | g.50199261G>A | CA8645702 | COL1A1 | c.436C>T (p.Pro146Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199261G>C | CA400227337 | COL1A1 | c.436C>G (p.Pro146Ala) | ClinVar dbSNP gnomAD v4 |
17 | g.50199261G= | CA2263920609 | COL1A1 | c.436C= (p.Pro146=) | |
17 | g.50199261G>T | CA8645701 | COL1A1 | c.436C>A (p.Pro146Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199262T>A | CA500852165 | COL1A1 | c.435A>T (p.Gly145=) | |
17 | g.50199262T>C | CA500852166 | COL1A1 | c.435A>G (p.Gly145=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199262T>G | CA500852167 | COL1A1 | c.435A>C (p.Gly145=) | |
17 | g.50199262T= | CA2263920610 | COL1A1 | c.435A= (p.Gly145=) | |
17 | g.50199263C>A | CA400227340 | COL1A1 | c.434G>T (p.Gly145Val) | |
17 | g.50199263C>G | CA400227338 | COL1A1 | c.434G>C (p.Gly145Ala) | |
17 | g.50199263C>T | CA400227339 | COL1A1 | c.434G>A (p.Gly145Glu) | |
17 | g.50199263_50199264insG | CA2695226554 | COL1A1 | c.433_434insC (p.Gly145AlafsTer24) | |
17 | g.50199264C>A | CA400227341 | COL1A1 | c.433G>T (p.Gly145Ter) | gnomAD v4 |
17 | g.50199264C= | CA2263920612 | COL1A1 | c.433G= (p.Gly145=) | |
17 | g.50199264C>G | CA400227342 | COL1A1 | c.433G>C (p.Gly145Arg) | |
17 | g.50199264C>T | CA400227343 | COL1A1 | c.433G>A (p.Gly145Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.50199264_50199265delinsCG | CA2263920611 | COL1A1 | c.432_433delinsCG (p.Pro144=) | |
17 | g.50199264_50199274delinsA | CA2739291026 | COL1A1 | c.423_433delinsT (p.Gly142AspfsTer?) | |
17 | g.50199265G>A | CA500852170 | COL1A1 | c.432C>T (p.Pro144=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199265G>C | CA500852169 | COL1A1 | c.432C>G (p.Pro144=) | dbSNP gnomAD v4 |
17 | g.50199265G= | CA2263920613 | COL1A1 | c.432C= (p.Pro144=) | |
17 | g.50199265G>T | CA500852168 | COL1A1 | c.432C>A (p.Pro144=) | gnomAD v4 |
17 | g.50199270dup | CA645293911 | COL1A1 | c.432dup (p.Gly145ArgfsTer24) | ClinVar dbSNP gnomAD v4 |
17 | g.50199270del | CA291550378 | COL1A1 | c.432del (p.Gly145AspfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199266G>A | CA400227344 | COL1A1 | c.431C>T (p.Pro144Leu) | gnomAD v4 |
17 | g.50199266G>C | CA400227345 | COL1A1 | c.431C>G (p.Pro144Arg) | gnomAD v4 |
17 | g.50199266G>T | CA400227346 | COL1A1 | c.431C>A (p.Pro144His) | gnomAD v4 |
17 | g.50199267G>A | CA291550395 | COL1A1 | c.430C>T (p.Pro144Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199267G>C | CA400227347 | COL1A1 | c.430C>G (p.Pro144Ala) | gnomAD v4 |
17 | g.50199267G= | CA2263920614 | COL1A1 | c.430C= (p.Pro144=) | |
17 | g.50199267G>T | CA400227348 | COL1A1 | c.430C>A (p.Pro144Thr) | gnomAD v4 |
17 | g.50199268G>A | CA500852171 | COL1A1 | c.429C>T (p.Pro143=) | ClinVar gnomAD v4 |
17 | g.50199268G>C | CA500852173 | COL1A1 | c.429C>G (p.Pro143=) | |
17 | g.50199268G>T | CA500852172 | COL1A1 | c.429C>A (p.Pro143=) | gnomAD v4 |
17 | g.50199269G>A | CA400227349 | COL1A1 | c.428C>T (p.Pro143Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199269G>C | CA400227350 | COL1A1 | c.428C>G (p.Pro143Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199269G= | CA2263920615 | COL1A1 | c.428C= (p.Pro143=) | |
17 | g.50199269G>T | CA291550399 | COL1A1 | c.428C>A (p.Pro143His) | dbSNP gnomAD v4 |
17 | g.50199270G>A | CA291550400 | COL1A1 | c.427C>T (p.Pro143Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199270G>C | CA400227351 | COL1A1 | c.427C>G (p.Pro143Ala) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199270G= | CA2263920616 | COL1A1 | c.427C= (p.Pro143=) | |
17 | g.50199270G>T | CA400227352 | COL1A1 | c.427C>A (p.Pro143Thr) | gnomAD v4 |
17 | g.50199271T>A | CA500852176 | COL1A1 | c.426A>T (p.Gly142=) | |
17 | g.50199271T>C | CA500852175 | COL1A1 | c.426A>G (p.Gly142=) | gnomAD v4 |
17 | g.50199271T>G | CA500852174 | COL1A1 | c.426A>C (p.Gly142=) | |
17 | g.50199272C>A | CA400227353 | COL1A1 | c.425G>T (p.Gly142Val) | gnomAD v4 |
17 | g.50199272C>G | CA400227354 | COL1A1 | c.425G>C (p.Gly142Ala) | |
17 | g.50199272C>T | CA400227355 | COL1A1 | c.425G>A (p.Gly142Glu) | gnomAD v4 |
17 | g.50199273C>A | CA400227356 | COL1A1 | c.424G>T (p.Gly142Ter) | gnomAD v4 |
17 | g.50199273C= | CA2263920617 | COL1A1 | c.424G= (p.Gly142=) | |
17 | g.50199273C>G | CA400227357 | COL1A1 | c.424G>C (p.Gly142Arg) | |
17 | g.50199273C>T | CA400227358 | COL1A1 | c.424G>A (p.Gly142Arg) | ClinVar dbSNP gnomAD v4 |
17 | g.50199274G>A | CA500852177 | COL1A1 | c.423C>T (p.Pro141=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199274G>C | CA500852179 | COL1A1 | c.423C>G (p.Pro141=) | |
17 | g.50199274G= | CA2263920618 | COL1A1 | c.423C= (p.Pro141=) | |
17 | g.50199274G>T | CA500852178 | COL1A1 | c.423C>A (p.Pro141=) | |
17 | g.50199276del | CA2580094384 | COL1A1 | c.423del (p.Gly142AspfsTer?) | ClinVar |
17 | g.50199275G>A | CA400227360 | COL1A1 | c.422C>T (p.Pro141Leu) | gnomAD v4 |
17 | g.50199275G>C | CA400227362 | COL1A1 | c.422C>G (p.Pro141Arg) | |
17 | g.50199275G>T | CA400227363 | COL1A1 | c.422C>A (p.Pro141His) | |
17 | g.50199276G>A | CA400227365 | COL1A1 | c.421C>T (p.Pro141Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199276G>C | CA400227366 | COL1A1 | c.421C>G (p.Pro141Ala) | |
17 | g.50199276G= | CA2263920619 | COL1A1 | c.421C= (p.Pro141=) | |
17 | g.50199276G>T | CA400227368 | COL1A1 | c.421C>A (p.Pro141Thr) | |
17 | g.50199277A>C | CA500852180 | COL1A1 | c.420T>G (p.Leu140=) | |
17 | g.50199277A>G | CA500852181 | COL1A1 | c.420T>C (p.Leu140=) | |
17 | g.50199277A>T | CA500852182 | COL1A1 | c.420T>A (p.Leu140=) | |
17 | g.50199277_50199278delinsAA | CA2263920620 | COL1A1 | c.419_420delinsTT (p.Leu140=) | |
17 | g.50199277_50199278delinsGG | CA658656725 | COL1A1 | c.419_420delinsCC (p.Leu140Pro) | ClinVar dbSNP |
17 | g.50199278A>C | CA400227371 | COL1A1 | c.419T>G (p.Leu140Arg) n.640T>G | |
17 | g.50199278A>G | CA400227374 | COL1A1 | c.419T>C (p.Leu140Pro) n.640T>C | |
17 | g.50199278A>T | CA400227372 | COL1A1 | c.419T>A (p.Leu140His) n.640T>A | |
17 | g.50199278_50199281del | CA2695226555 | COL1A1 | c.416_419del (p.Gly139ValfsTer?) n.637_640del | |
17 | g.50199278_50199284dup | CA2831039644 | COL1A1 | c.413_419dup (p.Pro141TrpfsTer30) | |
17 | g.50199279G>A | CA400227377 | COL1A1 | c.418C>T (p.Leu140Phe) n.639C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199279G>C | CA400227380 | COL1A1 | c.418C>G (p.Leu140Val) n.639C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199279G= | CA2263920621 | COL1A1 | c.418C= (p.Leu140=) n.639C= | |
17 | g.50199279G>T | CA400227379 | COL1A1 | c.418C>A (p.Leu140Ile) n.639C>A | gnomAD v4 |
17 | g.50199280T>A | CA500852183 | COL1A1 | c.417A>T (p.Gly139=) n.638A>T | |
17 | g.50199280T>C | CA500852184 | COL1A1 | c.417A>G (p.Gly139=) n.638A>G | |
17 | g.50199280T>G | CA500852185 | COL1A1 | c.417A>C (p.Gly139=) n.638A>C | |
17 | g.50199281C>A | CA400227382 | COL1A1 | c.416G>T (p.Gly139Val) n.637G>T | gnomAD v4 |
17 | g.50199281C>G | CA400227384 | COL1A1 | c.416G>C (p.Gly139Ala) n.637G>C | |
17 | g.50199281C>T | CA400227386 | COL1A1 | c.416G>A (p.Gly139Glu) n.637G>A | gnomAD v4 |
17 | g.50199282del | CA2576317757 | COL1A1 | c.416del (p.Gly139AspfsTer?) n.637del | |
17 | g.50199282C>A | CA400227388 | COL1A1 | c.415G>T (p.Gly139Ter) n.636G>T | ClinVar gnomAD v4 |
17 | g.50199282C>G | CA400227390 | COL1A1 | c.415G>C (p.Gly139Arg) n.636G>C | |
17 | g.50199282C>T | CA400227392 | COL1A1 | c.415G>A (p.Gly139Arg) n.636G>A | |
17 | g.50199283A>C | CA500852186 | COL1A1 | c.414T>G (p.Pro138=) n.635T>G | ClinVar dbSNP |
17 | g.50199283A>G | CA500852187 | COL1A1 | c.414T>C (p.Pro138=) n.635T>C | gnomAD v4 |
17 | g.50199283A>T | CA500852188 | COL1A1 | c.414T>A (p.Pro138=) n.635T>A | |
17 | g.50199284G>A | CA400227395 | COL1A1 | c.413C>T (p.Pro138Leu) n.634C>T | dbSNP |
17 | g.50199284G>C | CA400227396 | COL1A1 | c.413C>G (p.Pro138Arg) n.634C>G | gnomAD v4 |
17 | g.50199284G= | CA2263920622 | COL1A1 | c.413C= (p.Pro138=) n.634C= | |
17 | g.50199284G>T | CA400227397 | COL1A1 | c.413C>A (p.Pro138His) n.634C>A | gnomAD v4 COSMIC |
17 | g.50199285_50199288del | CA2695226556 | COL1A1 | c.410_413del (p.Gln137LeufsTer?) n.631_634del | |
17 | g.50199285G>A | CA400227399 | COL1A1 | c.412C>T (p.Pro138Ser) n.633C>T | |
17 | g.50199285G>C | CA400227400 | COL1A1 | c.412C>G (p.Pro138Ala) n.633C>G | |
17 | g.50199285G>T | CA400227402 | COL1A1 | c.412C>A (p.Pro138Thr) n.633C>A | gnomAD v4 |
17 | g.50199286C>A | CA400227404 | COL1A1 | c.411G>T (p.Gln137His) n.632G>T | gnomAD v4 |
17 | g.50199286C>G | CA400227405 | COL1A1 | c.411G>C (p.Gln137His) n.632G>C | gnomAD v4 |
17 | g.50199286C>T | CA500852189 | COL1A1 | c.411G>A (p.Gln137=) n.632G>A | ClinVar gnomAD v4 |
17 | g.50199287T>A | CA400227407 | COL1A1 | c.410A>T (p.Gln137Leu) n.631A>T | gnomAD v4 |
17 | g.50199287T>C | CA400227409 | COL1A1 | c.410A>G (p.Gln137Arg) n.631A>G | gnomAD v4 |
17 | g.50199287T>G | CA400227411 | COL1A1 | c.410A>C (p.Gln137Pro) n.631A>C | |
17 | g.50199288G>A | CA400227413 | COL1A1 | c.409C>T (p.Gln137Ter) n.630C>T | ClinVar gnomAD v4 |
17 | g.50199288G>C | CA400227415 | COL1A1 | c.409C>G (p.Gln137Glu) n.630C>G | |
17 | g.50199288G>T | CA400227417 | COL1A1 | c.409C>A (p.Gln137Lys) n.630C>A | gnomAD v4 |
17 | g.50199289T>A | CA500852190 | COL1A1 | c.408A>T (p.Gly136=) n.629A>T c.462A>T (p.Gly154=) | gnomAD v4 |
17 | g.50199289T>C | CA8645703 | COL1A1 | c.408A>G (p.Gly136=) n.629A>G c.462A>G (p.Gly154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199289T>G | CA500852191 | COL1A1 | c.408A>C (p.Gly136=) n.629A>C c.462A>C (p.Gly154=) | |
17 | g.50199289T= | CA2263920623 | COL1A1 | c.408A= (p.Gly136=) n.629A= c.462A= (p.Gly154=) | |
17 | g.50199290C>A | CA400227421 | COL1A1 | c.407G>T (p.Gly136Val) n.628G>T c.461G>T (p.Gly154Val) | gnomAD v4 |
17 | g.50199290C>G | CA400227422 | COL1A1 | c.407G>C (p.Gly136Ala) n.628G>C c.461G>C (p.Gly154Ala) | |
17 | g.50199290C>T | CA400227423 | COL1A1 | c.407G>A (p.Gly136Glu) n.628G>A c.461G>A (p.Gly154Glu) | gnomAD v4 COSMIC |
17 | g.50199291dup | CA2695226557 | COL1A1 | c.407dup (p.Gln137ThrfsTer?) n.628dup c.461dup (p.Gly154=) | |
17 | g.50199291C>A | CA400227426 | COL1A1 | c.406G>T (p.Gly136Ter) n.627G>T c.460G>T (p.Gly154Ter) | gnomAD v4 |
17 | g.50199291C>G | CA400227428 | COL1A1 | c.406G>C (p.Gly136Arg) n.627G>C c.460G>C (p.Gly154Arg) | |
17 | g.50199291C>T | CA400227429 | COL1A1 | c.406G>A (p.Gly136Arg) n.627G>A c.460G>A (p.Gly154Arg) | |
17 | g.50199292A>C | CA500852192 | COL1A1 | c.405T>G (p.Pro135=) n.626T>G c.459T>G (p.Pro153=) | |
17 | g.50199292A>G | CA500852193 | COL1A1 | c.405T>C (p.Pro135=) n.626T>C c.459T>C (p.Pro153=) | ClinVar gnomAD v4 |
17 | g.50199292A>T | CA500852194 | COL1A1 | c.405T>A (p.Pro135=) n.626T>A c.459T>A (p.Pro153=) | |
17 | g.50199293G>A | CA400227433 | COL1A1 | c.404C>T (p.Pro135Leu) n.625C>T c.458C>T (p.Pro153Leu) | |
17 | g.50199293G>C | CA400227435 | COL1A1 | c.404C>G (p.Pro135Arg) n.625C>G c.458C>G (p.Pro153Arg) | ClinVar dbSNP |
17 | g.50199293G>T | CA400227434 | COL1A1 | c.404C>A (p.Pro135His) n.625C>A c.458C>A (p.Pro153His) | gnomAD v4 |
17 | g.50199294G>A | CA400227437 | COL1A1 | c.403C>T (p.Pro135Ser) n.624C>T c.457C>T (p.Pro153Ser) | |
17 | g.50199294G>C | CA400227439 | COL1A1 | c.403C>G (p.Pro135Ala) n.624C>G c.457C>G (p.Pro153Ala) | |
17 | g.50199294G>T | CA400227440 | COL1A1 | c.403C>A (p.Pro135Thr) n.624C>A c.457C>A (p.Pro153Thr) | |
17 | g.50199295G>A | CA500852195 | COL1A1 | c.402C>T (p.Ile134=) n.623C>T c.456C>T (p.Ile152=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199295G>C | CA400227441 | COL1A1 | c.402C>G (p.Ile134Met) n.623C>G c.456C>G (p.Ile152Met) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199295G= | CA2263920624 | COL1A1 | c.402C= (p.Ile134=) n.623C= c.456C= (p.Ile152=) | |
17 | g.50199295G>T | CA500852196 | COL1A1 | c.402C>A (p.Ile134=) n.623C>A c.456C>A (p.Ile152=) | gnomAD v4 |
17 | g.50199296A= | CA2263920625 | COL1A1 | c.401T= (p.Ile134=) n.622T= c.455T= (p.Ile152=) | |
17 | g.50199296A>C | CA400227442 | COL1A1 | c.401T>G (p.Ile134Ser) n.622T>G c.455T>G (p.Ile152Ser) | |
17 | g.50199296A>G | CA400227443 | COL1A1 | c.401T>C (p.Ile134Thr) n.622T>C c.455T>C (p.Ile152Thr) | gnomAD v4 |
17 | g.50199296A>T | CA8645704 | COL1A1 | c.401T>A (p.Ile134Asn) n.622T>A c.455T>A (p.Ile152Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199296dup | CA2580094386 | COL1A1 | c.401dup (p.Gly136TrpfsTer?) n.622dup c.455dup (p.Gly154TrpfsTer?) | ClinVar |
17 | g.50199297T>A | CA400227445 | COL1A1 | c.400A>T (p.Ile134Phe) n.621A>T c.454A>T (p.Ile152Phe) | |
17 | g.50199297T>C | CA400227446 | COL1A1 | c.400A>G (p.Ile134Val) n.621A>G c.454A>G (p.Ile152Val) | |
17 | g.50199297T>G | CA400227447 | COL1A1 | c.400A>C (p.Ile134Leu) n.621A>C c.454A>C (p.Ile152Leu) | |
17 | g.50199297dup | CA1139665715 | COL1A1 | c.400dup (p.Ile134AsnfsTer?) n.621dup c.454dup (p.Ile152AsnfsTer?) | |
17 | g.50199297_50199306delinsTGCCATCTCG | CA2263920626 | COL1A1 | c.391_400delinsCGAGATGGCA (p.Arg131=) n.612_621delinsCGAGATGGCA c.445_454delinsCGAGATGGCA (p.Arg149=) | |
17 | g.50199298G>A | CA8645705 | COL1A1 | c.399C>T (p.Gly133=) n.620C>T c.453C>T (p.Gly151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199298G>C | CA500852197 | COL1A1 | c.399C>G (p.Gly133=) n.620C>G c.453C>G (p.Gly151=) | |
17 | g.50199298G= | CA2263920628 | COL1A1 | c.399C= (p.Gly133=) n.620C= c.453C= (p.Gly151=) | |
17 | g.50199298G>T | CA500852198 | COL1A1 | c.399C>A (p.Gly133=) n.620C>A c.453C>A (p.Gly151=) | gnomAD v4 |
17 | g.50199302_50199310del | CA2263920627 | COL1A1 | c.391_399del (p.Arg131_Gly133del) n.612_620del c.445_453del (p.Arg149_Gly151del) | dbSNP |
17 | g.50199299C>A | CA400227454 | COL1A1 | c.398G>T (p.Gly133Val) n.619G>T c.452G>T (p.Gly151Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199299C= | CA2263920629 | COL1A1 | c.398G= (p.Gly133=) n.619G= c.452G= (p.Gly151=) | |
17 | g.50199299C>G | CA400227452 | COL1A1 | c.398G>C (p.Gly133Ala) n.619G>C c.452G>C (p.Gly151Ala) | |
17 | g.50199299C>T | CA400227450 | COL1A1 | c.398G>A (p.Gly133Asp) n.619G>A c.452G>A (p.Gly151Asp) | gnomAD v4 |
17 | g.50199300C>A | CA400227456 | COL1A1 | c.397G>T (p.Gly133Cys) n.618G>T c.451G>T (p.Gly151Cys) | |
17 | g.50199300C>G | CA400227458 | COL1A1 | c.397G>C (p.Gly133Arg) n.618G>C c.451G>C (p.Gly151Arg) | |
17 | g.50199300C>T | CA400227460 | COL1A1 | c.397G>A (p.Gly133Ser) n.618G>A c.451G>A (p.Gly151Ser) | |
17 | g.50199301A>C | CA400227462 | COL1A1 | c.396T>G (p.Asp132Glu) n.617T>G c.450T>G (p.Asp150Glu) | |
17 | g.50199301A>G | CA500852199 | COL1A1 | c.396T>C (p.Asp132=) n.617T>C c.450T>C (p.Asp150=) | ClinVar |
17 | g.50199301A>T | CA400227464 | COL1A1 | c.396T>A (p.Asp132Glu) n.617T>A c.450T>A (p.Asp150Glu) | |
17 | g.50199302T>A | CA400227466 | COL1A1 | c.395A>T (p.Asp132Val) n.616A>T c.449A>T (p.Asp150Val) | gnomAD v4 |
17 | g.50199302T>C | CA8645706 | COL1A1 | c.395A>G (p.Asp132Gly) n.616A>G c.449A>G (p.Asp150Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199302T>G | CA400227468 | COL1A1 | c.395A>C (p.Asp132Ala) n.616A>C c.449A>C (p.Asp150Ala) | |
17 | g.50199302T= | CA2263920630 | COL1A1 | c.395A= (p.Asp132=) n.616A= c.449A= (p.Asp150=) | |
17 | g.50199304_50199305del | CA2580612658 | COL1A1 | c.394_395del (p.Asp132TrpfsTer?) n.615_616del c.448_449del (p.Asp150TrpfsTer?) | ClinVar dbSNP |
17 | g.50199303C>A | CA400227471 | COL1A1 | c.394G>T (p.Asp132Tyr) n.615G>T c.448G>T (p.Asp150Tyr) | gnomAD v4 |
17 | g.50199303C>G | CA400227473 | COL1A1 | c.394G>C (p.Asp132His) n.615G>C c.448G>C (p.Asp150His) | gnomAD v4 |
17 | g.50199303C>T | CA400227474 | COL1A1 | c.394G>A (p.Asp132Asn) n.615G>A c.448G>A (p.Asp150Asn) | gnomAD v4 |
17 | g.50199304T>A | CA8645707 | COL1A1 | c.393A>T (p.Arg131=) n.614A>T c.447A>T (p.Arg149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199304T>C | CA500852200 | COL1A1 | c.393A>G (p.Arg131=) n.614A>G c.447A>G (p.Arg149=) | gnomAD v4 |
17 | g.50199304T>G | CA500852201 | COL1A1 | c.393A>C (p.Arg131=) n.614A>C c.447A>C (p.Arg149=) | |
17 | g.50199304T= | CA2263920631 | COL1A1 | c.393A= (p.Arg131=) n.614A= c.447A= (p.Arg149=) | |
17 | g.50199305C>A | CA400227480 | COL1A1 | c.392G>T (p.Arg131Leu) n.613G>T c.446G>T (p.Arg149Leu) | gnomAD v4 |
17 | g.50199305C= | CA2263920632 | COL1A1 | c.392G= (p.Arg131=) n.613G= c.446G= (p.Arg149=) | |
17 | g.50199305C>G | CA400227477 | COL1A1 | c.392G>C (p.Arg131Pro) n.613G>C c.446G>C (p.Arg149Pro) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199305C>T | CA400227479 | COL1A1 | c.392G>A (p.Arg131Gln) n.613G>A c.446G>A (p.Arg149Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199306G>A | CA400227482 | COL1A1 | c.391C>T (p.Arg131Ter) n.612C>T c.445C>T (p.Arg149Ter) | ClinVar dbSNP gnomAD v4 |
17 | g.50199306G>C | CA400227483 | COL1A1 | c.391C>G (p.Arg131Gly) n.612C>G c.445C>G (p.Arg149Gly) | gnomAD v4 |
17 | g.50199306G= | CA2263920633 | COL1A1 | c.391C= (p.Arg131=) n.612C= c.445C= (p.Arg149=) | |
17 | g.50199306G>T | CA8645708 | COL1A1 | c.391C>A (p.Arg131=) n.612C>A c.445C>A (p.Arg149=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199306_50199307insT | CA2695226558 | COL1A1 | c.390_391insA (p.Arg131ThrfsTer?) n.611_612insA c.444_445insA (p.Arg149ThrfsTer?) | |
17 | g.50199307G>A | CA500852202 | COL1A1 | c.390C>T (p.Gly130=) n.611C>T c.444C>T (p.Gly148=) | gnomAD v4 |
17 | g.50199307G>C | CA500852203 | COL1A1 | c.390C>G (p.Gly130=) n.611C>G c.444C>G (p.Gly148=) | |
17 | g.50199307G= | CA2263920634 | COL1A1 | c.390C= (p.Gly130=) n.611C= c.444C= (p.Gly148=) | |
17 | g.50199307G>T | CA500852204 | COL1A1 | c.390C>A (p.Gly130=) n.611C>A c.444C>A (p.Gly148=) | dbSNP gnomAD v4 |
17 | g.50199307_50199308insT | CA291550411 | COL1A1 | c.389_390insA (p.Arg131ProfsTer?) n.610_611insA c.443_444insA (p.Arg149ProfsTer?) | dbSNP |
17 | g.50199308C>A | CA400227487 | COL1A1 | c.389G>T (p.Gly130Val) n.610G>T c.443G>T (p.Gly148Val) | gnomAD v4 |
17 | g.50199308C>G | CA400227489 | COL1A1 | c.389G>C (p.Gly130Ala) n.610G>C c.443G>C (p.Gly148Ala) | |
17 | g.50199308C>T | CA400227485 | COL1A1 | c.389G>A (p.Gly130Asp) n.610G>A c.443G>A (p.Gly148Asp) | |
17 | g.50199309C>A | CA400227495 | COL1A1 | c.388G>T (p.Gly130Cys) n.609G>T c.442G>T (p.Gly148Cys) | ClinVar dbSNP |
17 | g.50199309C= | CA2263920635 | COL1A1 | c.388G= (p.Gly130=) n.609G= c.442G= (p.Gly148=) | |
17 | g.50199309C>G | CA400227492 | COL1A1 | c.388G>C (p.Gly130Arg) n.609G>C c.442G>C (p.Gly148Arg) | |
17 | g.50199309C>T | CA400227493 | COL1A1 | c.388G>A (p.Gly130Ser) n.609G>A c.442G>A (p.Gly148Ser) | |
17 | g.50199309_50199310delinsCA | CA2263920636 | COL1A1 | c.387_388delinsTG (p.Pro129=) n.608_609delinsTG c.441_442delinsTG (p.Pro147=) | |
17 | g.50199310del | CA658656726 | COL1A1 | c.387del (p.Gly130AlafsTer?) n.608del c.441del (p.Gly148AlafsTer?) | ClinVar dbSNP |
17 | g.50199310A>C | CA500852206 | COL1A1 | c.387T>G (p.Pro129=) n.608T>G c.441T>G (p.Pro147=) | |
17 | g.50199310A>G | CA500852205 | COL1A1 | c.387T>C (p.Pro129=) n.608T>C c.441T>C (p.Pro147=) | ClinVar gnomAD v4 |
17 | g.50199310A>T | CA500852207 | COL1A1 | c.387T>A (p.Pro129=) n.608T>A c.441T>A (p.Pro147=) | |
17 | g.50199310_50199311delinsAG | CA2263920637 | COL1A1 | c.386_387delinsCT (p.Pro129=) n.607_608delinsCT c.440_441delinsCT (p.Pro147=) | |
17 | g.50199311G>A | CA400227497 | COL1A1 | c.386C>T (p.Pro129Leu) n.607C>T c.440C>T (p.Pro147Leu) | |
17 | g.50199311G>C | CA400227499 | COL1A1 | c.386C>G (p.Pro129Arg) n.607C>G c.440C>G (p.Pro147Arg) | |
17 | g.50199311G= | CA2263920638 | COL1A1 | c.386C= (p.Pro129=) n.607C= c.440C= (p.Pro147=) | |
17 | g.50199311G>T | CA291550413 | COL1A1 | c.386C>A (p.Pro129His) n.607C>A c.440C>A (p.Pro147His) | dbSNP gnomAD v4 |
17 | g.50199316dup | CA645509528 | COL1A1 | c.386dup (p.Gly130TrpfsTer?) n.607dup c.440dup (p.Gly148TrpfsTer?) | ClinVar dbSNP gnomAD v4 |
17 | g.50199316del | CA8645709 | COL1A1 | c.386del (p.Pro129LeufsTer?) n.607del c.440del (p.Pro147LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.50199312G>A | CA8645710 | COL1A1 | c.385C>T (p.Pro129Ser) n.606C>T c.439C>T (p.Pro147Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199312G>C | CA400227504 | COL1A1 | c.385C>G (p.Pro129Ala) n.606C>G c.439C>G (p.Pro147Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199312G= | CA2263920639 | COL1A1 | c.385C= (p.Pro129=) n.606C= c.439C= (p.Pro147=) | |
17 | g.50199312G>T | CA400227506 | COL1A1 | c.385C>A (p.Pro129Thr) n.606C>A c.439C>A (p.Pro147Thr) | gnomAD v4 |
17 | g.50199313G>A | CA500852208 | COL1A1 | c.384C>T (p.Pro128=) n.605C>T c.438C>T (p.Pro146=) | gnomAD v4 |
17 | g.50199313G>C | CA500852209 | COL1A1 | c.384C>G (p.Pro128=) n.605C>G c.438C>G (p.Pro146=) | dbSNP gnomAD v4 |
17 | g.50199313G= | CA2263920640 | COL1A1 | c.384C= (p.Pro128=) n.605C= c.438C= (p.Pro146=) | |
17 | g.50199313G>T | CA500852210 | COL1A1 | c.384C>A (p.Pro128=) n.605C>A c.438C>A (p.Pro146=) | ClinVar dbSNP gnomAD v4 |
17 | g.50199314G>A | CA400227509 | COL1A1 | c.383C>T (p.Pro128Leu) n.604C>T c.437C>T (p.Pro146Leu) | dbSNP |
17 | g.50199314G>C | CA400227511 | COL1A1 | c.383C>G (p.Pro128Arg) n.604C>G c.437C>G (p.Pro146Arg) | |
17 | g.50199314G= | CA2263920641 | COL1A1 | c.383C= (p.Pro128=) n.604C= c.437C= (p.Pro146=) | |
17 | g.50199314G>T | CA400227515 | COL1A1 | c.383C>A (p.Pro128His) n.604C>A c.437C>A (p.Pro146His) | gnomAD v4 |
17 | g.50199317_50199324del | CA2739268230 | COL1A1 | c.376_383del (p.Ala126ProfsTer?) n.597_604del c.430_437del (p.Ala144ProfsTer?) | ClinVar |
17 | g.50199315G>A | CA400227517 | COL1A1 | c.382C>T (p.Pro128Ser) n.603C>T c.436C>T (p.Pro146Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50199315G>C | CA400227520 | COL1A1 | c.382C>G (p.Pro128Ala) n.603C>G c.436C>G (p.Pro146Ala) | |
17 | g.50199315G= | CA2263920642 | COL1A1 | c.382C= (p.Pro128=) n.603C= c.436C= (p.Pro146=) | |
17 | g.50199315G>T | CA400227518 | COL1A1 | c.382C>A (p.Pro128Thr) n.603C>A c.436C>A (p.Pro146Thr) | gnomAD v4 |