17 | g.50198433_50199305delinsA | CA2573131850 | COL1A1 | c.392_543delinsT
| |
17 | g.50199168C= | CA2263920567 | COL1A1 | c.471+58G= (n.471+58G=)
| |
17 | g.50199168C>G | CA291550311 | COL1A1 | c.471+58G>C (n.471+58G>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199170G>A | CA2638681272 | COL1A1 | c.471+56C>T (n.471+56C>T)
| gnomAD v4 |
17 | g.50199170G>T | CA2638681273 | COL1A1 | c.471+56C>A (n.471+56C>A)
| gnomAD v4 |
17 | g.50199171C>A | CA2638681282 | COL1A1 | c.471+55G>T (n.471+55G>T)
| gnomAD v4 |
17 | g.50199171C>T | CA2638681278 | COL1A1 | c.471+55G>A (n.471+55G>A)
| gnomAD v4 |
17 | g.50199172C>A | CA2638681283 | COL1A1 | c.471+54G>T (n.471+54G>T)
| gnomAD v4 |
17 | g.50199178dup | CA2638681285 | COL1A1 | c.471+53dup (n.471+53dup)
| gnomAD v4 |
17 | g.50199178del | CA2638681287 | COL1A1 | c.471+53del (n.471+53del)
| gnomAD v4 |
17 | g.50199184_50199189del | CA2638681291 | COL1A1 | c.471+47_471+52del (n.471+47_471+52del)
| gnomAD v4 |
17 | g.50199175A>G | CA2638681299 | COL1A1 | c.471+51T>C (n.471+51T>C)
| gnomAD v4 |
17 | g.50199177A>C | CA2638681303 | COL1A1 | c.471+49T>G (n.471+49T>G)
| gnomAD v4 |
17 | g.50199179_50199181del | CA2809770991 | COL1A1 | c.471+47_471+49del (n.471+47_471+49del)
| |
17 | g.50199178A= | CA2263920568 | COL1A1 | c.471+48T= (n.471+48T=)
| |
17 | g.50199178A>C | CA772776366 | COL1A1 | c.471+48T>G (n.471+48T>G)
| dbSNP gnomAD v4 |
17 | g.50199179del | CA2809770992 | COL1A1 | c.471+47del (n.471+47del)
| |
17 | g.50199179C>A | CA2733839753 | COL1A1 | c.471+47G>T (n.471+47G>T)
| dbSNP |
17 | g.50199180A= | CA2263920569 | COL1A1 | c.471+46T= (n.471+46T=)
| |
17 | g.50199180A>G | CA291550314 | COL1A1 | c.471+46T>C (n.471+46T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199180A>T | CA2809770993 | COL1A1 | c.471+46T>A (n.471+46T>A)
| |
17 | g.50199181A>G | CA2638681316 | COL1A1 | c.471+45T>C (n.471+45T>C)
| gnomAD v4 |
17 | g.50199182A= | CA2263920570 | COL1A1 | c.471+44T= (n.471+44T=)
| |
17 | g.50199182A>G | CA8645695 | COL1A1 | c.471+44T>C (n.471+44T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199185_50199188del | CA2576317748 | COL1A1 | c.471+41_471+44del (n.471+41_471+44del)
| |
17 | g.50199185C>T | CA2809770994 | COL1A1 | c.471+41G>A (n.471+41G>A)
| |
17 | g.50199186A>G | CA2638681334 | COL1A1 | c.471+40T>C (n.471+40T>C)
| gnomAD v4 |
17 | g.50199189del | CA2638681332 | COL1A1 | c.471+40del (n.471+40del)
| gnomAD v4 |
17 | g.50199187A>T | CA2638681336 | COL1A1 | c.471+39T>A (n.471+39T>A)
| gnomAD v4 |
17 | g.50199189A>C | CA2638681339 | COL1A1 | c.471+37T>G (n.471+37T>G)
| gnomAD v4 |
17 | g.50199190C>A | CA2638681342 | COL1A1 | c.471+36G>T (n.471+36G>T)
| gnomAD v4 |
17 | g.50199190C>G | CA2576317749 | COL1A1 | c.471+36G>C (n.471+36G>C)
| |
17 | g.50199190_50199192delinsCAG | CA2263920571 | COL1A1 | c.471+34_471+36delinsCTG (n.471+34_471+36delinsCTG)
| |
17 | g.50199191del | CA2638681349 | COL1A1 | c.471+35del (n.471+35del)
| gnomAD v4 |
17 | g.50199191_50199192del | CA772776369 | COL1A1 | c.471+34_471+35del (n.471+34_471+35del)
| dbSNP gnomAD v4 |
17 | g.50199192G>A | CA2263920573 | COL1A1 | c.471+34C>T (n.471+34C>T)
| dbSNP |
17 | g.50199192G= | CA2263920572 | COL1A1 | c.471+34C= (n.471+34C=)
| |
17 | g.50199194_50199195del | CA2638681362 | COL1A1 | c.471+33_471+34del (n.471+33_471+34del)
| gnomAD v4 |
17 | g.50199193G>T | CA2638681367 | COL1A1 | c.471+33C>A (n.471+33C>A)
| gnomAD v4 |
17 | g.50199194G>A | CA8645696 | COL1A1 | c.471+32C>T (n.471+32C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199194G= | CA2263920574 | COL1A1 | c.471+32C= (n.471+32C=)
| |
17 | g.50199194G>T | CA2638681381 | COL1A1 | c.471+32C>A (n.471+32C>A)
| gnomAD v4 |
17 | g.50199195G>T | CA2638681386 | COL1A1 | c.471+31C>A (n.471+31C>A)
| gnomAD v4 |
17 | g.50199196A>G | CA2638681392 | COL1A1 | c.471+30T>C (n.471+30T>C)
| gnomAD v4 |
17 | g.50199196A>T | CA2576317752 | COL1A1 | c.471+30T>A (n.471+30T>A)
| gnomAD v4 |
17 | g.50199197G>A | CA2638681398 | COL1A1 | c.471+29C>T (n.471+29C>T)
| dbSNP gnomAD v4 |
17 | g.50199197G>C | CA2638681401 | COL1A1 | c.471+29C>G (n.471+29C>G)
| gnomAD v4 |
17 | g.50199198A>C | CA2638681406 | COL1A1 | c.471+28T>G (n.471+28T>G)
| gnomAD v4 |
17 | g.50199199G>T | CA2638681410 | COL1A1 | c.471+27C>A (n.471+27C>A)
| gnomAD v4 |
17 | g.50199200T>A | CA2638681421 | COL1A1 | c.471+26A>T (n.471+26A>T)
| gnomAD v4 |
17 | g.50199200T>C | CA984451761 | COL1A1 | c.471+26A>G (n.471+26A>G)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199200T>G | CA291550319 | COL1A1 | c.471+26A>C (n.471+26A>C)
| dbSNP gnomAD v4 |
17 | g.50199200T= | CA2263920575 | COL1A1 | c.471+26A= (n.471+26A=)
| |
17 | g.50199201G>A | CA291550320 | COL1A1 | c.471+25C>T (n.471+25C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199201G= | CA2263920576 | COL1A1 | c.471+25C= (n.471+25C=)
| |
17 | g.50199202G= | CA2263920577 | COL1A1 | c.471+24C= (n.471+24C=)
| |
17 | g.50199202G>T | CA2638681432 | COL1A1 | c.471+24C>A (n.471+24C>A)
| gnomAD v4 |
17 | g.50199203A= | CA2263920578 | COL1A1 | c.471+23T= (n.471+23T=)
| |
17 | g.50199203A>G | CA291550323 | COL1A1 | c.471+23T>C (n.471+23T>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199208_50199209dup | CA984451763 | COL1A1 | c.471+22_471+23dup (n.471+22_471+23dup)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199204C= | CA2263920579 | COL1A1 | c.471+22G= (n.471+22G=)
| |
17 | g.50199204C>T | CA626486262 | COL1A1 | c.471+22G>A (n.471+22G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199205A= | CA2263920580 | COL1A1 | c.471+21T= (n.471+21T=)
| |
17 | g.50199205A>G | CA291550327 | COL1A1 | c.471+21T>C (n.471+21T>C)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.50199206C>A | CA2638681463 | COL1A1 | c.471+20G>T (n.471+20G>T)
| gnomAD v4 |
17 | g.50199206C>T | CA2638681466 | COL1A1 | c.471+20G>A (n.471+20G>A)
| gnomAD v4 |
17 | g.50199207A>G | CA2576317753 | COL1A1 | c.471+19T>C (n.471+19T>C)
| gnomAD v4 |
17 | g.50199208C>A | CA2638681477 | COL1A1 | c.471+18G>T (n.471+18G>T)
| gnomAD v4 |
17 | g.50199208C>T | CA2638681473 | COL1A1 | c.471+18G>A (n.471+18G>A)
| gnomAD v4 |
17 | g.50199210A>G | CA2638681480 | COL1A1 | c.471+16T>C (n.471+16T>C)
| gnomAD v4 |
17 | g.50199211G>A | CA2638681484 | COL1A1 | c.471+15C>T (n.471+15C>T)
| gnomAD v4 |
17 | g.50199211G>T | CA2638681486 | COL1A1 | c.471+15C>A (n.471+15C>A)
| gnomAD v4 |
17 | g.50199212G>A | CA626486263 | COL1A1 | c.471+14C>T (n.471+14C>T)
| dbSNP gnomAD v2 |
17 | g.50199212G>C | CA8645697 | COL1A1 | c.471+14C>G (n.471+14C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.50199212G= | CA2263920581 | COL1A1 | c.471+14C= (n.471+14C=)
| |
17 | g.50199213C>A | CA2638681504 | COL1A1 | c.471+13G>T (n.471+13G>T)
| gnomAD v4 |
17 | g.50199213C>T | CA2576317755 | COL1A1 | c.471+13G>A (n.471+13G>A)
| gnomAD v4 |
17 | g.50199214C>A | CA2638681512 | COL1A1 | c.471+12G>T (n.471+12G>T)
| gnomAD v4 |
17 | g.50199214C>T | CA2638681511 | COL1A1 | c.471+12G>A (n.471+12G>A)
| gnomAD v4 |
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.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 |